Wang, Xuefeng; Lee, Seunggeun; Zhu, Xiaofeng; Redline, Susan; Lin, Xihong
2013-12-01
Family-based genetic association studies of related individuals provide opportunities to detect genetic variants that complement studies of unrelated individuals. Most statistical methods for family association studies for common variants are single marker based, which test one SNP a time. In this paper, we consider testing the effect of an SNP set, e.g., SNPs in a gene, in family studies, for both continuous and discrete traits. Specifically, we propose a generalized estimating equations (GEEs) based kernel association test, a variance component based testing method, to test for the association between a phenotype and multiple variants in an SNP set jointly using family samples. The proposed approach allows for both continuous and discrete traits, where the correlation among family members is taken into account through the use of an empirical covariance estimator. We derive the theoretical distribution of the proposed statistic under the null and develop analytical methods to calculate the P-values. We also propose an efficient resampling method for correcting for small sample size bias in family studies. The proposed method allows for easily incorporating covariates and SNP-SNP interactions. Simulation studies show that the proposed method properly controls for type I error rates under both random and ascertained sampling schemes in family studies. We demonstrate through simulation studies that our approach has superior performance for association mapping compared to the single marker based minimum P-value GEE test for an SNP-set effect over a range of scenarios. We illustrate the application of the proposed method using data from the Cleveland Family GWAS Study. © 2013 WILEY PERIODICALS, INC.
ERIC Educational Resources Information Center
Marmorstein, Naomi R.; von Ranson, Kristin M.; Iacono, William G.; Succop, Paul A.
2007-01-01
This study investigated longitudinal associations between externalizing behavior and dysfunctional eating attitudes and behaviors. Participants were girls drawn from the community-based Minnesota Twin Family Study and assessed at ages 11, 14, and 17. Cross-sectional correlations indicated that the strength of the associations between externalizing…
OPATs: Omnibus P-value association tests.
Chen, Chia-Wei; Yang, Hsin-Chou
2017-07-10
Combining statistical significances (P-values) from a set of single-locus association tests in genome-wide association studies is a proof-of-principle method for identifying disease-associated genomic segments, functional genes and biological pathways. We review P-value combinations for genome-wide association studies and introduce an integrated analysis tool, Omnibus P-value Association Tests (OPATs), which provides popular analysis methods of P-value combinations. The software OPATs programmed in R and R graphical user interface features a user-friendly interface. In addition to analysis modules for data quality control and single-locus association tests, OPATs provides three types of set-based association test: window-, gene- and biopathway-based association tests. P-value combinations with or without threshold and rank truncation are provided. The significance of a set-based association test is evaluated by using resampling procedures. Performance of the set-based association tests in OPATs has been evaluated by simulation studies and real data analyses. These set-based association tests help boost the statistical power, alleviate the multiple-testing problem, reduce the impact of genetic heterogeneity, increase the replication efficiency of association tests and facilitate the interpretation of association signals by streamlining the testing procedures and integrating the genetic effects of multiple variants in genomic regions of biological relevance. In summary, P-value combinations facilitate the identification of marker sets associated with disease susceptibility and uncover missing heritability in association studies, thereby establishing a foundation for the genetic dissection of complex diseases and traits. OPATs provides an easy-to-use and statistically powerful analysis tool for P-value combinations. OPATs, examples, and user guide can be downloaded from http://www.stat.sinica.edu.tw/hsinchou/genetics/association/OPATs.htm. © The Author 2017. Published by Oxford University Press.
Ariel, Robert; Price, Jodi; Hertzog, Christopher
2015-01-01
Value-based remembering in free recall tasks may be spared from the typical age-related cognitive decline observed for episodic memory. However, it is unclear whether value-based remembering for associative information is also spared from age-related cognitive decline. The current experiments evaluated the contribution of agenda-based based regulation and strategy use during study to age differences and similarities in value-based remembering of associative information. Participants studied word pairs (Experiments 1-2) or single words (Experiment 2) slated with different point values by moving a mouse controlled cursor to different spatial locations to reveal either items for study or the point value associated with remembering each item. Some participants also provided strategy reports for each item. Younger and older adults allocated greater time to studying high than low valued information, reported using normatively effective encoding strategies to learn high-valued pairs, and avoided study of low-valued pairs. As a consequence, both age groups selectively remembered more high than low-valued items. Despite nearly identical regulatory behavior, an associative memory deficit for older adults was present for high valued pairs. Age differences in value-based remembering did not occur when the materials were word lists. Fluid intelligence also moderated the effectiveness of older adults’ strategy use for high valued pairs (Experiment 2). These results suggest that age differences in associative value-based remembering may be due to some older adults’ gleaning less benefit from using normatively effective encoding strategies rather than age differences in metacognitive self-regulation per se. PMID:26523692
Pössel, Patrick; Winkeljohn Black, Stephanie; Bjerg, Annie C; Jeppsen, Benjamin D; Wooldridge, Don T
2014-06-01
Significant associations of private prayer with mental health have been found, while mechanisms underlying these associations are largely unknown. This cross-sectional online study (N = 325, age 35.74, SD 18.50, 77.5 % females) used path modeling to test if trust-based beliefs (whether, when, and how prayers are answered) mediated the associations of prayer frequency with the Anxiety, Confusion, and Depression Profile of Mood States-Short Form scales. The association of prayer and depression was fully mediated by trust-based beliefs; associations with anxiety and confusion were partially mediated. Further, the interaction of prayer frequency by stress was associated with anxiety.
Engels, Eric A; Wacholder, Sholom; Katki, Hormuzd A; Chaturvedi, Anil K
2014-10-01
We describe the "tumor-based case-control" study as a type of epidemiologic study used to evaluate associations between infectious agents and cancer. These studies assess exposure using diseased tissues from affected individuals (i.e., evaluating tumor tissue for cancer cases), but they must utilize nondiseased tissues to assess control subjects, who do not have the disease of interest. This approach can lead to exposure misclassification in two ways. First, concerning the "when" of exposure assessment, retrospective assessment of tissues may not accurately measure exposure at the key earlier time point (i.e., during the etiologic window). Second, concerning the "where" of exposure assessment, use of different tissues in cases and controls can have different accuracy for detecting the exposure (i.e., differential exposure misclassification). We present an example concerning the association of human papillomavirus with various cancers, where tumor-based case-control studies likely overestimate risk associated with infection. In another example, we illustrate how tumor-based case-control studies of Helicobacter pylori and gastric cancer underestimate risk. Tumor-based case-control studies can demonstrate infection within tumor cells, providing qualitative information about disease etiology. However, measures of association calculated in tumor-based case-control studies are prone to over- or underestimating the relationship between infections and subsequent cancer risk. ©2014 American Association for Cancer Research.
Signature of genetic associations in oral cancer.
Sharma, Vishwas; Nandan, Amrita; Sharma, Amitesh Kumar; Singh, Harpreet; Bharadwaj, Mausumi; Sinha, Dhirendra Narain; Mehrotra, Ravi
2017-10-01
Oral cancer etiology is complex and controlled by multi-factorial events including genetic events. Candidate gene studies, genome-wide association studies, and next-generation sequencing identified various chromosomal loci to be associated with oral cancer. There is no available review that could give us the comprehensive picture of genetic loci identified to be associated with oral cancer by candidate gene studies-based, genome-wide association studies-based, and next-generation sequencing-based approaches. A systematic literature search was performed in the PubMed database to identify the loci associated with oral cancer by exclusive candidate gene studies-based, genome-wide association studies-based, and next-generation sequencing-based study approaches. The information of loci associated with oral cancer is made online through the resource "ORNATE." Next, screening of the loci validated by candidate gene studies and next-generation sequencing approach or by two independent studies within candidate gene studies or next-generation sequencing approaches were performed. A total of 264 loci were identified to be associated with oral cancer by candidate gene studies, genome-wide association studies, and next-generation sequencing approaches. In total, 28 loci, that is, 14q32.33 (AKT1), 5q22.2 (APC), 11q22.3 (ATM), 2q33.1 (CASP8), 11q13.3 (CCND1), 16q22.1 (CDH1), 9p21.3 (CDKN2A), 1q31.1 (COX-2), 7p11.2 (EGFR), 22q13.2 (EP300), 4q35.2 (FAT1), 4q31.3 (FBXW7), 4p16.3 (FGFR3), 1p13.3 (GSTM1-GSTT1), 11q13.2 (GSTP1), 11p15.5 (H-RAS), 3p25.3 (hOGG1), 1q32.1 (IL-10), 4q13.3 (IL-8), 12p12.1 (KRAS), 12q15 (MDM2), 12q13.12 (MLL2), 9q34.3 (NOTCH1), 17p13.1 (p53), 3q26.32 (PIK3CA), 10q23.31 (PTEN), 13q14.2 (RB1), and 5q14.2 (XRCC4), were validated to be associated with oral cancer. "ORNATE" gives a snapshot of genetic loci associated with oral cancer. All 28 loci were validated to be linked to oral cancer for which further fine-mapping followed by gene-by-gene and gene-environment interaction studies is needed to confirm their involvement in modifying oral cancer.
Abdullah, Nurul-Fadhilah; Teo, Pey Sze; Foo, Leng Huat
2016-09-12
The aim of the study was to identify the ethnic differences in dietary patterns and its association with socio-economic, dietary and lifestyle practices among adolescents in Kelantan, Malaysia. A population-based study of 454 adolescents aged 12 to 19 years was included. A validated food frequency questionnaire was used to assess dietary patterns and three dietary patterns were identified based on the principal component analysis method. Malay adolescents had significantly higher scores for the Western-based food pattern and local-based food pattern, whereas Chinese adolescents showed higher scores for the healthy-based food pattern. Multivariate analyses show that age and physical activity (PA) levels were positively associated with healthy-based food pattern in Malay (All, p < 0.001), whereas higher consumption of eating-out from home (EatOut) (p = 0.014) and fast food (p = 0.041) were negatively associated. High weekly breakfast skipping (p < 0.001) and EatOut (p = 0.003) were positively associated with a Western-based pattern, whereas age (p < 0.001) and household income (p = 0.005) were negatively associated. Higher frequency of daily snacking (p = 0.013) was positively associated with local-based food pattern. For Chinese adolescents, age (p < 0.001), PA levels (p < 0.001) and maternal education level (p = 0.035) showed positive associations with the healthy-based pattern, whereas high EatOut (p = 0.001) and fast food intakes (p = 0.001) were negatively associated. Higher weekly consumption of EatOut (p = 0.007), fast food (p = 0.023) and carbonated beverages (p = 0.023), and daily snacking practice (p = 0.004) were positively associated with higher Western-based food pattern, whereas age (p = 0.004) was inversely associated. This study showed that there were significant differences in dietary patterns and its association factors between Malay and Chinese adolescents. More importantly, these findings suggest that unhealthy dietary and lifestyle practices could increase the risk of adherence to unhealthy Western-based food pattern that is high in fat, sugar and salt contents, and, consequently, increase the risk of developing obesity and metabolic-related disorders during these critical years of growth.
Abdullah, Nurul-Fadhilah; Teo, Pey Sze; Foo, Leng Huat
2016-01-01
Objective: The aim of the study was to identify the ethnic differences in dietary patterns and its association with socio-economic, dietary and lifestyle practices among adolescents in Kelantan, Malaysia. Methods: A population-based study of 454 adolescents aged 12 to 19 years was included. A validated food frequency questionnaire was used to assess dietary patterns and three dietary patterns were identified based on the principal component analysis method. Results: Malay adolescents had significantly higher scores for the Western-based food pattern and local-based food pattern, whereas Chinese adolescents showed higher scores for the healthy-based food pattern. Multivariate analyses show that age and physical activity (PA) levels were positively associated with healthy-based food pattern in Malay (All, p < 0.001), whereas higher consumption of eating-out from home (EatOut) (p = 0.014) and fast food (p = 0.041) were negatively associated. High weekly breakfast skipping (p < 0.001) and EatOut (p = 0.003) were positively associated with a Western-based pattern, whereas age (p < 0.001) and household income (p = 0.005) were negatively associated. Higher frequency of daily snacking (p = 0.013) was positively associated with local-based food pattern. For Chinese adolescents, age (p < 0.001), PA levels (p < 0.001) and maternal education level (p = 0.035) showed positive associations with the healthy-based pattern, whereas high EatOut (p = 0.001) and fast food intakes (p = 0.001) were negatively associated. Higher weekly consumption of EatOut (p = 0.007), fast food (p = 0.023) and carbonated beverages (p = 0.023), and daily snacking practice (p = 0.004) were positively associated with higher Western-based food pattern, whereas age (p = 0.004) was inversely associated. Conclusion: This study showed that there were significant differences in dietary patterns and its association factors between Malay and Chinese adolescents. More importantly, these findings suggest that unhealthy dietary and lifestyle practices could increase the risk of adherence to unhealthy Western-based food pattern that is high in fat, sugar and salt contents, and, consequently, increase the risk of developing obesity and metabolic-related disorders during these critical years of growth. PMID:27626444
ERIC Educational Resources Information Center
Jian, Xue-Qiu; Wang, Ke-Sheng; Wu, Tie-Jian; Hillhouse, Joel J.; Mullersman, Jerald E.
2011-01-01
Twin and family studies have shown that genetic factors play a role in the development of conduct disorder (CD). The purpose of this study was to identify genetic variants associated with CD using a family-based association study. We used 4,720 single nucleotide polymorphisms (SNPs) from the Illumina Panel and 11,120 SNPs from the Affymetrix 10K…
Reddy, L Felice; Horan, William P; Barch, Deanna M; Buchanan, Robert W; Gold, James M; Marder, Stephen R; Wynn, Jonathan K; Young, Jared; Green, Michael F
2017-11-13
Effort-based decision-making paradigms are increasingly utilized to gain insight into the nature of motivation deficits. Research has shown associations between effort-based decision making and experiential negative symptoms; however, the associations are not consistent. The current study had two primary goals. First, we aimed to replicate previous findings of a deficit in effort-based decision making among individuals with schizophrenia on a test of cognitive effort. Second, in a large sample combined from the current and a previous study, we sought to examine the association between negative symptoms and effort by including the related construct of defeatist beliefs. The results replicated previous findings of impaired cognitive effort-based decision making in schizophrenia. Defeatist beliefs significantly moderated the association between negative symptoms and effort-based decision making such that there was a strong association between high negative symptoms and deficits in effort-based decision making, but only among participants with high levels of defeatist beliefs. Thus, our findings suggest the relationship between negative symptoms and effort performance may be understood by taking into account the role of defeatist beliefs, and finding that might explain discrepancies in previous studies. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center 2017.
Katsumata, Yuriko; Nelson, Peter T.; Ellingson, Sally R.; Fardo, David W.
2017-01-01
Hippocampal sclerosis of aging (HS-Aging) is a common neurodegenerative condition associated with dementia. To learn more about genetic risk of HS-Aging pathology, we tested gene-based associations of the GRN, TMEM106B, ABCC9, and KCNMB2 genes, which were reported to be associated with HS-Aging pathology in previous studies. Genetic data were obtained from the Alzheimer’s Disease Genetics Consortium (ADGC), linked to autopsy-derived neuropathological outcomes from the National Alzheimer’s Coordinating Center (NACC). Of the 3,251 subjects included in the study, 271 (8.3%) were identified as an HS-Aging case. The significant gene-based association between the ABCC9 gene and HS-Aging appeared to be driven by a region in which a significant haplotype-based association was found. We tested this haplotype as an expression Quantitative Trait Locus (eQTL) using two different public-access brain gene expression databases. The HS-Aging pathology protective ABCC9 haplotype was associated with decreased ABCC9 expression, indicating a possible toxic gain of function. PMID:28131462
Hutchison, Kimberly N; Song, Yanna; Wang, Lily; Malow, Beth A
2008-04-15
Polysomnography is associated with changes in sleep architecture called the first-night effect. This effect is believed to result from sleeping in an unusual environment and the technical equipment used to study sleep. Sleep experts hope to decrease this variable by providing a more familiar, comfortable atmosphere for sleep testing through hotel-based sleep centers. In this study, we compared the sleep parameters of patients studied in our hotel-based and hospital-based sleep laboratories. We retrospectively reviewed polysomnograms completed in our hotel-based and hospital-based sleep laboratories from August 2003 to July 2005. All patients were undergoing evaluation for obstructive sleep apnea. Hospital-based patients were matched for age and apnea-hypopnea index with hotel-based patients. We compared the sleep architecture changes associated with the first-night effect in the two groups. The associated conditions and symptoms listed on the polysomnography referral forms are also compared. No significant differences were detected between the two groups in sleep onset latency, sleep efficiency, REM sleep latency, total amount of slow wave sleep (NREM stages 3 and 4), arousal index, and total stage 1 sleep. This pilot study failed to show a difference in sleep parameters associated with the first-night effect in patients undergoing sleep studies in our hotel and hospital-based sleep laboratories. Future studies need to compare the first-night effect in different sleep disorders, preferably in multi-night recordings.
Costigan, Sarah A; Barnett, Lisa; Plotnikoff, Ronald C; Lubans, David R
2013-04-01
Evidence suggests sitting time is independently associated with a range of health issues in adults, yet the relationship between sedentary behavior and health indicators in young people is less clear. Age-related increases in sedentary behavior are well-documented; the behavioral patterns of adolescent girls are of particular concern. More than one third of adolescent girls' sedentary behavior time is accumulated through use of recreational screen-based behaviors. The objective of this review was to investigate the association between recreational screen-based sedentary behavior and the physical, behavioral, and psychosocial health indicators for adolescent girls. A secondary objective was to identify studies that have adjusted sedentary behavior indicators for physical activity. A structured electronic search of all publication years (through December 2011) was conducted to identify studies in: CINAHL, Communications and Mass Media Complete, ERIC, MEDLINE with Full Text, PsycINFO, and SPORTDiscus with Full Text. Included publications were observational and interventional studies involving adolescent girls (12-18 years) that examined associations between screen-based, sedentary behavior and health indicators (physical, psychosocial, and/or behavioral). The search identified 33 studies that evaluated health indicators of screen-based sedentary behaviors among adolescent girls. Strong evidence for a positive association between screen-based sedentary behavior and weight status was found. A positive association was observed between screen-time and sleep problems, musculoskeletal pain and depression. Negative associations were identified between screen time and physical activity/fitness, screen time and psychological well-being, and screen time and social support. The relationship between screen-based sedentary behavior and diet quality was inconclusive. Less than half of the studies adjusted sedentary behavior indicators for physical activity. Screen-based sedentary behavior is associated with a range of adverse health consequences, but additional longitudinal studies are needed to better understand the health impacts. In addition, screen-time guidelines for youth should be regularly revised and updated to reflect rapid technological changes. Copyright © 2013 Society for Adolescent Health and Medicine. Published by Elsevier Inc. All rights reserved.
2014-01-01
Background The purpose of this study was to investigate how physical activity (PA), cardiorespiratory fitness (CRF), and body composition are associated with heart rate variability (HRV)-based indicators of stress and recovery on workdays. Additionally, we evaluated the association of objectively measured stress with self-reported burnout symptoms. Methods Participants of this cross-sectional study were 81 healthy males (age range 26–40 y). Stress and recovery on workdays were measured objectively based on HRV recordings. CRF and anthropometry were assessed in laboratory conditions. The level of PA was based on a detailed PA interview (MET index [MET-h/d]) and self-reported activity class. Results PA, CRF, and body composition were significantly associated with levels of stress and recovery on workdays. MET index (P < 0.001), activity class (P = 0.001), and CRF (P = 0.019) were negatively associated with stress during working hours whereas body fat percentage (P = 0.005) was positively associated. Overall, 27.5% of the variance of total stress on workdays (P = 0.001) was accounted for by PA, CRF, and body composition. Body fat percentage and body mass index were negatively associated with night-time recovery whereas CRF was positively associated. Objective work stress was associated (P = 0.003) with subjective burnout symptoms. Conclusions PA, CRF, and body composition are associated with HRV-based stress and recovery levels, which needs to be taken into account in the measurement, prevention, and treatment of work-related stress. The HRV-based method used to determine work-related stress and recovery was associated with self-reported burnout symptoms, but more research on the clinical importance of the methodology is needed. PMID:24742265
Optoelectronic Terminal-Attractor-Based Associative Memory
NASA Technical Reports Server (NTRS)
Liu, Hua-Kuang; Barhen, Jacob; Farhat, Nabil H.
1994-01-01
Report presents theoretical and experimental study of optically and electronically addressable optical implementation of artificial neural network that performs associative recall. Shows by computer simulation that terminal-attractor-based associative memory can have perfect convergence in associative retrieval and increased storage capacity. Spurious states reduced by exploiting terminal attractors.
Hutchison, Kimberly N.; Song, Yanna; Wang, Lily; Malow, Beth A.
2008-01-01
Background: Polysomnography is associated with changes in sleep architecture called the first-night effect. This effect is believed to result from sleeping in an unusual environment and the technical equipment used to study sleep. Sleep experts hope to decrease this variable by providing a more familiar, comfortable atmosphere for sleep testing through hotel-based sleep centers. In this study, we compared the sleep parameters of patients studied in our hotel-based and hospital-based sleep laboratories. Methods: We retrospectively reviewed polysomnograms completed in our hotel-based and hospital-based sleep laboratories from August 2003 to July 2005. All patients were undergoing evaluation for obstructive sleep apnea. Hospital-based patients were matched for age and apnea-hypopnea index with hotel-based patients. We compared the sleep architecture changes associated with the first-night effect in the two groups. The associated conditions and symptoms listed on the polysomnography referral forms are also compared. Results: No significant differences were detected between the two groups in sleep onset latency, sleep efficiency, REM sleep latency, total amount of slow wave sleep (NREM stages 3 and 4), arousal index, and total stage 1 sleep. Conclusions: This pilot study failed to show a difference in sleep parameters associated with the first-night effect in patients undergoing sleep studies in our hotel and hospital-based sleep laboratories. Future studies need to compare the first-night effect in different sleep disorders, preferably in multi-night recordings. Citation: Hutchison KN; Song Y; Wang L; Malow BA. Analysis of sleep parameters in patients with obstructive sleep apnea studied in a hospital vs. A hotel-based sleep center. J Clin Sleep Med 2008;4(2):119–122. PMID:18468309
Perinatal factors and the risk of bipolar disorder in Finland.
Chudal, Roshan; Sourander, Andre; Polo-Kantola, Päivi; Hinkka-Yli-Salomäki, Susanna; Lehti, Venla; Sucksdorff, Dan; Gissler, Mika; Brown, Alan S
2014-02-01
Complications during the perinatal period have been associated with neurodevelopmental disorders like schizophrenia and autism. However, similar studies on bipolar disorder (BPD) have been limited and the findings are inconsistent. The aim of this study was to examine the association between perinatal risk factors and BPD. This nested case-control study, based on the Finnish Prenatal Study of Bipolar Disorders (FIPS-B), identified 724 cases and 1419 matched controls from population based registers. Conditional logistic regression was used to examine the associations between perinatal factors and BPD adjusting for potential confounding due to maternal age, psychiatric history and educational level, place of birth, number of previous births and maternal smoking during pregnancy. Children delivered by planned cesarean section had a 2.5-fold increased risk of BPD (95% CI: 1.32-4.78, P<0.01). No association was seen between other examined perinatal risk factors and BPD. The limitations of this study include: the restriction in the sample to treated cases of BPD in the population, and usage of hospital based clinical diagnosis for case ascertainment. In addition, in spite of the large sample size, there was low power to detect associations for certain exposures including the lowest birth weight category and pre-term birth. Birth by planned cesarean section was associated with risk of BPD, but most other perinatal risk factors examined in this study were not associated with BPD. Larger studies with greater statistical power to detect less common exposures and studies utilizing prospective biomarker-based exposures are necessary in the future. © 2013 Published by Elsevier B.V.
Qiu, Ying-Hua; Deng, Fei-Yan; Li, Min-Jing; Lei, Shu-Feng
2014-11-01
Type 1 diabetes mellitus is a serious disorder characterized by destruction of pancreatic β-cells, culminating in absolute insulin deficiency. Genetic factors contribute to the susceptibility of type 1 diabetes mellitus. The aim of the present study was to identify more susceptibility genes of type 1 diabetes mellitus. We carried out an initial gene-based genome-wide association study in a total of 4,075 type 1 diabetes mellitus cases and 2,604 controls by using the Gene-based Association Test using Extended Simes procedure. Furthermore, we carried out replication studies, differential expression analysis and functional annotation clustering analysis to support the significance of the identified susceptibility genes. We identified 452 genes associated with type 1 diabetes mellitus, even after adapting the genome-wide threshold for significance (P < 9.05E-04). Among these genes, 171 were newly identified for type 1 diabetes mellitus, which were ignored in single-nucleotide polymorphism-based association analysis and were not previously reported. We found that 53 genes have supportive evidence from replication studies and/or differential expression studies. In particular, seven genes including four non-human leukocyte antigen (HLA) genes (RASIP1, STRN4, BCAR1 and MYL2) are replicated in at least one independent population and also differentially expressed in peripheral blood mononuclear cells or monocytes. Furthermore, the associated genes tend to enrich in immune-related pathways or Gene Ontology project terms. The present results suggest the high power of gene-based association analysis in detecting disease-susceptibility genes. Our findings provide more insights into the genetic basis of type 1 diabetes mellitus.
Sun exposure and melanoma survival: a GEM study.
Berwick, Marianne; Reiner, Anne S; Paine, Susan; Armstrong, Bruce K; Kricker, Anne; Goumas, Chris; Cust, Anne E; Thomas, Nancy E; Groben, Pamela A; From, Lynn; Busam, Klaus; Orlow, Irene; Marrett, Loraine D; Gallagher, Richard P; Gruber, Stephen B; Anton-Culver, Hoda; Rosso, Stefano; Zanetti, Roberto; Kanetsky, Peter A; Dwyer, Terry; Venn, Alison; Lee-Taylor, Julia; Begg, Colin B
2014-10-01
We previously reported a significant association between higher UV radiation exposure before diagnosis and greater survival with melanoma in a population-based study in Connecticut. We sought to evaluate the hypothesis that sun exposure before diagnosis was associated with greater survival in a larger, international population-based study with more detailed exposure information. We conducted a multicenter, international population-based study in four countries-Australia, Italy, Canada, and the United States-with 3,578 cases of melanoma with an average of 7.4 years of follow-up. Measures of sun exposure included sunburn, intermittent exposure, hours of holiday sun exposure, hours of water-related outdoor activities, ambient ultraviolet B (280-320 nm) dose, histologic solar elastosis, and season of diagnosis. Results were not strongly supportive of the earlier hypothesis. Having had any sunburn in 1 year within 10 years of diagnosis was inversely associated with survival; solar elastosis-a measure of lifetime cumulative exposure-was not. In addition, none of the intermittent exposure measures-water-related activities and sunny holidays-were associated with melanoma-specific survival. Estimated ambient UVB dose was not associated with survival. Although there was an apparent protective effect of sunburns within 10 years of diagnosis, there was only weak evidence in this large, international, population-based study of melanoma that sun exposure before diagnosis is associated with greater melanoma-specific survival. This study adds to the evidence that sun exposure before melanoma diagnosis has little effect on survival with melanoma. ©2014 American Association for Cancer Research.
ERIC Educational Resources Information Center
Mendez-Luck, Carolyn A.; Trejo, Laura; Miranda, Jeanne; Jimenez, Elizabeth; Quiter, Elaine S.; Mangione, Carol M.
2011-01-01
Purpose: We describe the recruitment strategies and personnel and materials costs associated with two community-based research studies in a Mexican-origin population. We also highlight the role that academic-community partnerships played in the outreach and recruitment process for our studies. We reviewed study documents using case study…
Brautbar, Ariel; Pompeii, Lisa A.; Dehghan, Abbas; Ngwa, Julius S.; Nambi, Vijay; Virani, Salim S.; Rivadeneira, Fernando; Uitterlinden, André G.; Hofman, Albert; Witteman, Jacqueline C.M.; Pencina, Michael J.; Folsom, Aaron R.; Cupples, L. Adrienne; Ballantyne, Christie M.; Boerwinkle, Eric
2013-01-01
Objective Multiple studies have identified single-nucleotide polymorphisms (SNPs) that are associated with coronary heart disease (CHD). We examined whether SNPs selected based on predefined criteria will improve CHD risk prediction when added to traditional risk factors (TRFs). Methods SNPs were selected from the literature based on association with CHD, lack of association with a known CHD risk factor, and successful replication. A genetic risk score (GRS) was constructed based on these SNPs. Cox proportional hazards model was used to calculate CHD risk based on the Atherosclerosis Risk in Communities (ARIC) and Framingham CHD risk scores with and without the GRS. Results The GRS was associated with risk for CHD (hazard ratio [HR] = 1.10; 95% confidence interval [CI]: 1.07–1.13). Addition of the GRS to the ARIC risk score significantly improved discrimination, reclassification, and calibration beyond that afforded by TRFs alone in non-Hispanic whites in the ARIC study. The area under the receiver operating characteristic curve (AUC) increased from 0.742 to 0.749 (Δ= 0.007; 95% CI, 0.004–0.013), and the net reclassification index (NRI) was 6.3%. Although the risk estimates for CHD in the Framingham Offspring (HR = 1.12; 95% CI: 1.10–1.14) and Rotterdam (HR = 1.08; 95% CI: 1.02–1.14) Studies were significantly improved by adding the GRS to TRFs, improvements in AUC and NRI were modest. Conclusion Addition of a GRS based on direct associations with CHD to TRFs significantly improved discrimination and reclassification in white participants of the ARIC Study, with no significant improvement in the Rotterdam and Framingham Offspring Studies. PMID:22789513
Rice, A. L.; Sacco, L.; Hyder, A.; Black, R. E.
2000-01-01
INTRODUCTION: Recent estimates suggest that malnutrition (measured as poor anthropometric status) is associated with about 50% of all deaths among children. Although the association between malnutrition and all-cause mortality is well documented, the malnutrition-related risk of death associated with specific diseases is less well described. We reviewed published literature to examine the evidence for a relation between malnutrition and child mortality from diarrhoea, acute respiratory illness, malaria and measles, conditions that account for over 50% of deaths in children worldwide. METHODS: MEDLINE was searched for suitable review articles and original reports of community-based and hospital-based studies. Findings from cohort studies and case-control studies were reviewed and summarized. RESULTS: The strongest and most consistent relation between malnutrition and an increased risk of death was observed for diarrhoea and acute respiratory infection. The evidence, although limited, also suggests a potentially increased risk for death from malaria. A less consistent association was observed between nutritional status and death from measles. Although some hospital-based studies and case-control studies reported an increased risk of mortality from measles, few community-based studies reported any association. DISCUSSION: The risk of malnutrition-related mortality seems to vary for different diseases. These findings have important implications for the evaluation of nutritional intervention programmes and child survival programmes being implemented in settings with different disease profiles. PMID:11100616
Galvan, Antonella; Ioannidis, John P.A.; Dragani, Tommaso A.
2010-01-01
Genome-wide association studies (GWAS) using population-based designs have identified many genetic loci associated with risk of a range of complex diseases including cancer; however, each locus exerts a very small effect and most heritability remains unexplained. Family-based pedigree studies have also suggested tentative loci linked to increased cancer risk, often characterized by pedigree-specificity. However, a comparison between the results of population-and those of family-based studies shows little concordance. Explanations for this unidentified genetic ‘dark matter’ of cancer include phenotype ascertainment issues, limited power, gene-gene and gene-environment interactions, population heterogeneity, parent-of-origin-specific effects, rare and unexplored variants. Many of these reasons converge towards the concept of genetic heterogeneity that might implicate hundreds of genetic variants in regulating cancer risk. Dissecting the dark matter is a challenging task. Further insights can be gained from both population association and pedigree studies. PMID:20106545
Zhang, Xiaoshuai; Yang, Xiaowei; Yuan, Zhongshang; Liu, Yanxun; Li, Fangyu; Peng, Bin; Zhu, Dianwen; Zhao, Jinghua; Xue, Fuzhong
2013-01-01
For genome-wide association data analysis, two genes in any pathway, two SNPs in the two linked gene regions respectively or in the two linked exons respectively within one gene are often correlated with each other. We therefore proposed the concept of gene-gene co-association, which refers to the effects not only due to the traditional interaction under nearly independent condition but the correlation between two genes. Furthermore, we constructed a novel statistic for detecting gene-gene co-association based on Partial Least Squares Path Modeling (PLSPM). Through simulation, the relationship between traditional interaction and co-association was highlighted under three different types of co-association. Both simulation and real data analysis demonstrated that the proposed PLSPM-based statistic has better performance than single SNP-based logistic model, PCA-based logistic model, and other gene-based methods. PMID:23620809
Zhang, Xiaoshuai; Yang, Xiaowei; Yuan, Zhongshang; Liu, Yanxun; Li, Fangyu; Peng, Bin; Zhu, Dianwen; Zhao, Jinghua; Xue, Fuzhong
2013-01-01
For genome-wide association data analysis, two genes in any pathway, two SNPs in the two linked gene regions respectively or in the two linked exons respectively within one gene are often correlated with each other. We therefore proposed the concept of gene-gene co-association, which refers to the effects not only due to the traditional interaction under nearly independent condition but the correlation between two genes. Furthermore, we constructed a novel statistic for detecting gene-gene co-association based on Partial Least Squares Path Modeling (PLSPM). Through simulation, the relationship between traditional interaction and co-association was highlighted under three different types of co-association. Both simulation and real data analysis demonstrated that the proposed PLSPM-based statistic has better performance than single SNP-based logistic model, PCA-based logistic model, and other gene-based methods.
Predictors of Word-Reading Ability in 7-Year-Olds: Analysis of Data from a U.K. Cohort Study
ERIC Educational Resources Information Center
Russell, Ginny; Ukoumunne, Obioha C.; Ryder, Denise; Golding, Jean; Norwich, Brahm
2018-01-01
Previous U.K. population-based studies have found associations amongst early speech and language difficulties, socioeconomic disadvantage and children's word-reading ability later on. We examine the strength of these associations in a recent U.K. population-based birth cohort. Analyses were based on 13,680 participants. Linear regression models…
Association of Alzheimer's disease GWAS loci with MRI markers of brain aging.
Chauhan, Ganesh; Adams, Hieab H H; Bis, Joshua C; Weinstein, Galit; Yu, Lei; Töglhofer, Anna Maria; Smith, Albert Vernon; van der Lee, Sven J; Gottesman, Rebecca F; Thomson, Russell; Wang, Jing; Yang, Qiong; Niessen, Wiro J; Lopez, Oscar L; Becker, James T; Phan, Thanh G; Beare, Richard J; Arfanakis, Konstantinos; Fleischman, Debra; Vernooij, Meike W; Mazoyer, Bernard; Schmidt, Helena; Srikanth, Velandai; Knopman, David S; Jack, Clifford R; Amouyel, Philippe; Hofman, Albert; DeCarli, Charles; Tzourio, Christophe; van Duijn, Cornelia M; Bennett, David A; Schmidt, Reinhold; Longstreth, William T; Mosley, Thomas H; Fornage, Myriam; Launer, Lenore J; Seshadri, Sudha; Ikram, M Arfan; Debette, Stephanie
2015-04-01
Whether novel risk variants of Alzheimer's disease (AD) identified through genome-wide association studies also influence magnetic resonance imaging-based intermediate phenotypes of AD in the general population is unclear. We studied association of 24 AD risk loci with intracranial volume, total brain volume, hippocampal volume (HV), white matter hyperintensity burden, and brain infarcts in a meta-analysis of genetic association studies from large population-based samples (N = 8175-11,550). In single-SNP based tests, AD risk allele of APOE (rs2075650) was associated with smaller HV (p = 0.0054) and CD33 (rs3865444) with smaller intracranial volume (p = 0.0058). In gene-based tests, there was associations of HLA-DRB1 with total brain volume (p = 0.0006) and BIN1 with HV (p = 0.00089). A weighted AD genetic risk score was associated with smaller HV (beta ± SE = -0.047 ± 0.013, p = 0.00041), even after excluding the APOE locus (p = 0.029). However, only association of AD genetic risk score with HV, including APOE, was significant after multiple testing correction (including number of independent phenotypes tested). These results suggest that novel AD genetic risk variants may contribute to structural brain aging in nondemented older community persons. Copyright © 2015 Elsevier Inc. All rights reserved.
Association between diabetes mellitus and the occurrence and outcome of intracerebral hemorrhage
Boulanger, Marion; Poon, Michael T.C.; Wild, Sarah H.
2016-01-01
Objective: Whether diabetes mellitus (DM) is a risk factor for spontaneous intracerebral hemorrhage (ICH) and influences outcome after ICH remains unclear. Methods: One reviewer searched Ovid MEDLINE and Embase 1980–2014 inclusive for studies investigating the associations between DM and ICH occurrence or DM and ICH case fatality. Two reviewers independently confirmed each study's eligibility, assessed risk of bias, and extracted data. One reviewer combined studies using random effects meta-analysis. Results: Nineteen case-control studies involving 3,397 people with ICH and 5,747 people without ICH found an association between DM and ICH occurrence (unadjusted odds ratio [OR] 1.23, 95% confidence interval [CI] 1.04–1.45; I2 = 22%), which did not differ between 17 hospital-based and 2 population-based studies (pdiff = 0.70), and was similar in the 16 studies that controlled for age and sex (unadjusted OR 1.15, 95% CI 0.95–1.40; I2 = 14%). This association was not identified in 3 population-based cohort studies in which ICH occurred in 38 (0.66%) of 5,724 people with DM and 448 (0.57%) of 78,702 people without DM (unadjusted risk ratio [RR] 1.27, 95% CI 0.68–2.36; I2 = 69%). DM was associated with a higher case fatality by 30 days or hospital discharge in 18 cohort studies involving 813 people with DM and 3,714 people without DM (unadjusted RR 1.52, 95% CI 1.28–1.81; I2 = 49%). Conclusions: The findings suggest that there may be modest associations between DM and ICH occurrence and outcome, but further information from large, population-based studies that account for confounding is required before the association can be confirmed. PMID:27473136
NASA Astrophysics Data System (ADS)
Tang, Nai-En
The goal of this study is to examine how reform-based science teaching has been implemented and whether reform-based science teaching has promoted education equity through being available and beneficial for students from different socioeconomic status (SES) family backgrounds in the U.S. and Taiwan. No existing study used large-scale assessment to investigate the implementation and outcomes of the science reform movement in the U.S. and Taiwan. This study was developed to fill this gap using the Program of International Student Assessment (PISA) 2006 data including 5,611 students in the United States and 5995 students in Taiwan. A Latent Profile Analysis (LPA) was used to classify students into different science learning subgroups to understand how broadly reform-based science learning has been implemented in classrooms. The results showed that students in the U.S. had more opportunity to learn science through the reform-based learning activities than students in Taiwan. Latent Class Regression (LCR) and Structural Equation Modeling (SEM) were used for examining the availability of reform-based science teaching in both countries. The results showed that in the U.S., higher SES students had more opportunity to learn science reform-based learning activities. On the other hand, students' SES had no association with reform-based science learning in Taiwan. Regression Mixture Modeling and SEM were used to examine whether there was an association between reform-based science teaching and SES-associated achievement gaps. The results found no evidence to support the claim that reform-based science teaching helps to minimize SES-associated achievement gaps in both countries.
Are PCI Service Volumes Associated with 30-Day Mortality? A Population-Based Study from Taiwan.
Yu, Tsung-Hsien; Chou, Ying-Yi; Wei, Chung-Jen; Tung, Yu-Chi
2017-11-09
The volume-outcome relationship has been discussed for over 30 years; however, the findings are inconsistent. This might be due to the heterogeneity of service volume definitions and categorization methods. This study takes percutaneous coronary intervention (PCI) as an example to examine whether the service volume was associated with PCI 30-day mortality, given different service volume definitions and categorization methods. A population-based, cross-sectional multilevel study was conducted. Two definitions of physician and hospital volume were used: (1) the cumulative PCI volume in a previous year before each PCI; (2) the cumulative PCI volume within the study period. The volume was further treated in three ways: (1) a categorical variable based on the American Heart Association's recommendation; (2) a semi-data-driven categorical variable based on k-means clustering algorithm; and (3) a data-driven categorical variable based on the Generalized Additive Model. The results showed that, after adjusting the patient-, physician-, and hospital-level covariates, physician volume was associated inversely with PCI 30-day mortality, but hospital volume was not, no matter which definitions and categorization methods of service volume were applied. Physician volume is negatively associated with PCI 30-day mortality, but the results might vary because of definition and categorization method.
Han, Sehee; Lee, Jonathan; Park, Kyung-Gook
2017-07-01
The purpose of this study was to examine the association between extracurricular activities (EA) participation and youth delinquency while tackling an endogeneity problem of EA participation. Using survey data of 12th graders in South Korea (n = 1943), this study employed an instrumental variables approach to address the self-selection problem of EA participation as the data for this study was based on an observational study design. We found a positive association between EA participation and youth delinquency based on conventional regression analysis. By contrast, we found a negative association between EA participation and youth delinquency based on an instrumental variables approach. These results indicate that caution should be exercised when we interpret the effect of EA participation on youth delinquency based on observational study designs. Copyright © 2017 The Foundation for Professionals in Services for Adolescents. Published by Elsevier Ltd. All rights reserved.
Federal Register 2010, 2011, 2012, 2013, 2014
2012-07-18
... renal failure appear to be at highest risk. In one, early retrospective study of 370 patients with... (Ref. 1). In a recent retrospective chart review study by Wang of 52,954 contrast MR examinations with... prospective registry study of the risk of NSF associated with GBCAs among renal patients. Patients already...
Hagmar, L; Strömberg, U; Welinder, H; Mikoczy, Z
1993-01-01
OBJECTIVE--To assess the association between occupational exposure to toluene diisocyanate or methylene diphenyldiisocyanate and risk of cancer. DESIGN--A cohort based case-referent study. STUDY BASE--7023 subjects employed during the period 1958 to 1987 in nine Swedish polyurethane foam manufacturing plants. MAIN OUTCOME MEASURES--Odds ratios adjusted with respect to the matching factors (age at risk, calendar year at risk, sex, and plant), calculated from the conditional logistic regression model. RESULTS--A non-significant association was found between high exposure to isocyanates and prostate cancer (OR 2.66, 90% confidence interval (90% CI) 0.39-18.1), which was not enhanced when an induction latency period of 10 years was applied. An association between isocyanate exposure and colon cancer was even weaker. No associations were seen for non-Hodgkin's lymphoma and rectal cancer. CONCLUSIONS--The tentative associations, derived from a previous cohort study, between isocyanate exposure and excess risk for non-Hodgkin's lymphoma and rectal cancer were not supported. Instead, non-significant associations with prostate cancer, and possibly colon cancer, were seen. PMID:8280625
Zhang, Jing; Zhang, Lu; Zhang, Yan; Yang, Jing; Guo, Mengbiao; Sun, Liangdan; Pan, Hai-Feng; Hirankarn, Nattiya; Ying, Dingge; Zeng, Shuai; Lee, Tsz Leung; Lau, Chak Sing; Chan, Tak Mao; Leung, Alexander Moon Ho; Mok, Chi Chiu; Wong, Sik Nin; Lee, Ka Wing; Ho, Marco Hok Kung; Lee, Pamela Pui Wah; Chung, Brian Hon-Yin; Chong, Chun Yin; Wong, Raymond Woon Sing; Mok, Mo Yin; Wong, Wilfred Hing Sang; Tong, Kwok Lung; Tse, Niko Kei Chiu; Li, Xiang-Pei; Avihingsanon, Yingyos; Rianthavorn, Pornpimol; Deekajorndej, Thavatchai; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk; Ying, Shirley King Yee; Fung, Samuel Ka Shun; Lai, Wai Ming; Garcia-Barceló, Maria-Mercè; Cherny, Stacey S; Sham, Pak Chung; Cui, Yong; Yang, Sen; Ye, Dong Qing; Zhang, Xue-Jun; Lau, Yu Lung; Yang, Wanling
2015-11-01
Previous genome-wide association studies (GWAS), which were mainly based on single-variant analysis, have identified many systemic lupus erythematosus (SLE) susceptibility loci. However, the genetic architecture of this complex disease is far from being understood. The aim of this study was to investigate whether using a gene-based analysis may help to identify novel loci, by considering global evidence of association from a gene or a genomic region rather than focusing on evidence for individual variants. Based on the results of a meta-analysis of 2 GWAS of SLE conducted in 2 Asian cohorts, we performed an in-depth gene-based analysis followed by replication in a total of 4,626 patients and 7,466 control subjects of Asian ancestry. Differential allelic expression was measured by pyrosequencing. More than one-half of the reported SLE susceptibility loci showed evidence of independent effects, and this finding is important for understanding the mechanisms of association and explaining disease heritability. ANXA6 was detected as a novel SLE susceptibility gene, with several single-nucleotide polymorphisms (SNPs) contributing independently to the association with disease. The risk allele of rs11960458 correlated significantly with increased expression of ANXA6 in peripheral blood mononuclear cells from heterozygous healthy control subjects. Several other associated SNPs may also regulate ANXA6 expression, according to data obtained from public databases. Higher expression of ANXA6 in patients with SLE was also reported previously. Our study demonstrated the merit of using gene-based analysis to identify novel susceptibility loci, especially those with independent effects, and also demonstrated the widespread presence of loci with independent effects in SLE susceptibility genes. © 2015, American College of Rheumatology.
A paradigm for the study of paranoia in the general population: the Prisoner's Dilemma Game.
Ellett, Lyn; Allen-Crooks, Rhani; Stevens, Adele; Wildschut, Tim; Chadwick, Paul
2013-01-01
A growing body of research shows that paranoia is common in the general population. We report three studies that examined the Prisoner's Dilemma Game (PDG) as a paradigm for evaluation of non-clinical paranoia. The PDG captures three key qualities that are at the heart of paranoia--it is interpersonal, it concerns threat, and it concerns the perception of others' intentions towards the self. Study 1 (n=175) found that state paranoia was positively associated with selection of the competitive PDG choice. Study 2 (n=111) found that this association was significant only when participants believed they were playing the PDG against another person, and not when playing against a computer. This finding underscores the interpersonal nature of paranoia and the concomitant necessity of studying paranoia in interpersonal context. In Study 3 (n=152), we assessed both trait and state paranoia, and differentiated between distrust- and greed-based competition. Both trait and state paranoia were positively associated with distrust-based competition (but not with greed-based competition). Crucially, we found that the association between trait paranoia and distrust-based competition was fully mediated by state paranoia. The PDG is a promising paradigm for the study of non-clinical paranoia.
Alazawi, William; Bernabe, Eduardo; Tai, David; Janicki, Tomasz; Kemos, Polychronis; Samsuddin, Salma; Syn, Wing-Kin; Gillam, David; Turner, Wendy
2017-01-01
Non-alcoholic fatty liver disease (NAFLD) has a bidirectional association with metabolic syndrome. It affects up to 30% of the general population, 70% of individuals with diabetes and 90% with obesity. The main histological hallmark of progressive NAFLD is fibrosis. There is a bidirectional epidemiological link between periodontitis and metabolic syndrome. NAFLD, periodontitis and diabetes share common risk factors, are characterised by inflammation and associated with changes in commensal bacteria. Therefore we tested the hypothesis that periodontitis is associated with NAFLD and with significant fibrosis in two study groups. We analyzed data from a population-based survey and a patient-based study. NHANES III participants with abdominal ultrasound and sociodemographic, clinical, and oral examination data were extracted and appropriate weighting applied. In a separate patient-based study, consenting patients with biopsy-proved NAFLD (or with liver indices too mild to justify biopsy) underwent dental examination. Basic Periodontal Examination score was recorded. In NHANES, periodontitis was significantly associated with steatosis in 8172 adults even after adjusting for sociodemographic factors. However, associations were fully explained after accounting for features of metabolic syndrome. In the patient-based study, periodontitis was significantly more common in patients with biopsy-proven NASH and any fibrosis (F0-F4) than without NASH (p = 0.009). Periodontitis was more common in patients with NASH and significant fibrosis (F2-4) than mild or no fibrosis (F0-1, p = 0.04). Complementary evidence from an epidemiological survey and a clinical study show that NAFLD is associated with periodontitis and that the association is stronger with significant liver fibrosis.
Performance-based self-esteem and burnout in a cross-sectional study of medical students.
Dahlin, M; Joneborg, N; Runeson, B
2007-02-01
To examine levels of burnout among medical students and test the hypothesis that high performance-based self-esteem is associated with burnout. Further to study associations between burnout and self-rated health. Cross-sectional survey, of medical students at 1st, 3rd and 6th year of medical school, N = 342, 59.1% women. Burnout was monitored by the Oldenburg Burnout Inventory (OLBI), comprising Exhaustion and Disengagement dimensions. Performance-based self-esteem (PBSE) was assessed by the PBSE-scale (PBSS) and self-rated health by SRH-5. The response rate was 90.4%. Females were more exhausted than males and sixth year students were most disengaged. High performance-based self-esteem was present in 41.7% of the respondents and poor health in 10.7%. Performance-based self-esteem had significant and moderate correlations with both burnout dimensions. Logistic regression showed a positive association between poor health and Exhaustion. Exhaustion among medical students was significantly associated with poor health, and deserves attention from teachers. Performance-based self-esteem was higher than in other populations and associated with both burnout dimensions, but not with poor health. Further research on study environment and burnout is needed, and the reasons for female students' higher exhaustion levels should be further investigated.
Van Dyck, Delfien; Cerin, Ester; De Bourdeaudhuij, Ilse; Salvo, Deborah; Christiansen, Lars B; Macfarlane, Duncan; Owen, Neville; Mitas, Josef; Troelsen, Jens; Aguinaga-Ontoso, Ines; Davey, Rachel; Reis, Rodrigo; Sarmiento, Olga L; Schofield, Grant; Conway, Terry L; Sallis, James F
2015-01-01
The study's purpose was to examine age, gender, and education as potential moderators of the associations of perceived neighborhood environment variables with accelerometer-based moderate-to-vigorous physical activity (MVPA). Data were from 7273 adults from 16 sites (11 countries) that were part of a coordinated multi-country cross-sectional study. Age moderated the associations of perceived crime safety, and perceiving no major physical barriers to walking, with MVPA: positive associations were only found in older adults. Perceived land use mix-access was linearly (positive) associated with MVPA in men, and curvilinearly in women. Perceived crime safety was related to MVPA only in women. No moderating relationships were found for education. Overall the associations of adults’ perceptions of environmental attributes with MVPA were largely independent of the socio-demographic factors examined. These findings are encouraging, suggesting that efforts to optimize the perceived built and social environment may act in a socially-equitable manner to facilitate MVPA. PMID:26454247
Bender, Anne Mette; Kawachi, Ichiro; Jørgensen, Torben; Pisinger, Charlotta
2015-07-22
Participation in population-based preventive health check has declined over the past decades. More research is needed to determine factors enhancing participation. The objective of this study was to examine the association between two measures of neighborhood level social capital on participation in the health check phase of a population-based lifestyle intervention. The study population comprised 12,568 residents of 73 Danish neighborhoods in the intervention group of a large population-based lifestyle intervention study - the Inter99. Two measures of social capital were applied; informal socializing and voting turnout. In a multilevel analysis only adjusting for age and sex, a higher level of neighborhood social capital was associated with higher probability of participating in the health check. Inclusion of both individual socioeconomic position and neighborhood deprivation in the model attenuated the coefficients for informal socializing, while voting turnout became non-significant. Higher level of neighborhood social capital was associated with higher probability of participating in the health check phase of a population-based lifestyle intervention. Most of the association between neighborhood social capital and participation in preventive health checks can be explained by differences in individual socioeconomic position and level of neighborhood deprivation. Nonetheless, there seems to be some residual association between social capital and health check participation, suggesting that activating social relations in the community may be an avenue for boosting participation rates in population-based health checks. ClinicalTrials.gov (registration no. NCT00289237 ).
Weight- and race-based bullying: health associations among urban adolescents.
Rosenthal, Lisa; Earnshaw, Valerie A; Carroll-Scott, Amy; Henderson, Kathryn E; Peters, Susan M; McCaslin, Catherine; Ickovics, Jeannette R
2015-04-01
Stigma-based bullying is associated with negative mental and physical health outcomes. In a longitudinal study, surveys and physical assessments were conducted with mostly Black and Latino, socioeconomically disadvantaged, urban students. As hypothesized, greater weight- and race-based bullying each was significantly indirectly associated with increased blood pressure and body mass index, as well as decreased overall self-rated health across 2 years, through the mechanism of more negative emotional symptoms. Results support important avenues for future research on mechanisms and longitudinal associations of stigma-based bullying with health. Interventions are needed to reduce stigma-based bullying and buffer adolescents from adverse health effects. © The Author(s) 2013.
Weight- and race-based bullying: Health associations among urban adolescents
Rosenthal, Lisa; Earnshaw, Valerie A; Carroll-Scott, Amy; Henderson, Kathryn E; Peters, Susan M; McCaslin, Catherine; Ickovics, Jeannette R
2014-01-01
Stigma-based bullying is associated with negative mental and physical health outcomes. In a longitudinal study, surveys and physical assessments were conducted with mostly Black and Latino, socioeconomically disadvantaged, urban students. As hypothesized, greater weight- and race-based bullying each was significantly indirectly associated with increased blood pressure and body mass index, as well as decreased overall self-rated health across 2 years, through the mechanism of more negative emotional symptoms. Results support important avenues for future research on mechanisms and longitudinal associations of stigma-based bullying with health. Interventions are needed to reduce stigma-based bullying and buffer adolescents from adverse health effects. PMID:24155192
Factors Associated with Head Start Staff Participation in Classroom-Based Professional Development
ERIC Educational Resources Information Center
Trivette, Carol M.; Raab, Melinda; Dunst, Carl J.
2014-01-01
Factors associated with Head Start staff participation in a classroom-based professional development project to promote their use of evidence-based child learning opportunity practices and evidence-based responsive teaching procedures were examined in a study of 36 teachers and teacher assistants in 19 different classrooms. The factors…
2011-03-01
Carcinoma Cells and Tumor Associated Pericytes with Antibody-Based Immunotherapy and Metronomic Chemotherapy. PRINCIPAL INVESTIGATOR: Soldano...Combinatorial Targeting of Prostate Carcinoma Cells and Tumor Associated Pericytes with Antibody-Based Immunotherapy and Metronomic Chemotherapy. 5b. GRANT...SUPPLEMENTARY NOTES 14. ABSTRACT Seventy seven 10 week old TRAMP mice were enrolled in the study. Administration of metronomic chemotherapy with
Cuypers, Koenraad; Krokstad, Steinar; Holmen, Turid Lingaas; Skjei Knudtsen, Margunn; Bygren, Lars Olov; Holmen, Jostein
2012-08-01
Cultural participation has been used both in governmental health policies and as medical therapy, based on the assumption that cultural activities will improve health. Previous population studies and a human intervention study have shown that religious, social and cultural activities predict increased survival rate. The aim of this study was to analyse the association between cultural activity and perceived health, anxiety, depression and satisfaction with life in both genders. The study is based on the third population-based Nord-Trøndelag Health Study (2006-2008), including 50,797 adult participants from Nord-Trøndelag County, Norway. Data on cultural activities, both receptive and creative, perceived health, anxiety, depression and satisfaction with life were collected by comprehensive questionnaires. The logistic regression models, adjusted for relevant cofactors, show that participation in receptive and creative cultural activities was significantly associated with good health, good satisfaction with life, low anxiety and depression scores in both genders. Especially in men, attending receptive, rather than creative, cultural activities was more strongly associated with all health-related outcomes. Statistically significant associations between several single receptive, creative cultural activities and the health-related outcome variables were revealed. This population-based study suggests gender-dependent associations between cultural participation and perceived health, anxiety, depression and satisfaction with life. The results support hypotheses on the effect of cultural activities in health promotion and healthcare, but further longitudinal and experimental studies are warranted to establish a reliable cause-effect relationship.
Work-based social networks and health status among Japanese employees.
Suzuki, E; Takao, S; Subramanian, S V; Doi, H; Kawachi, I
2009-09-01
Despite the worldwide trend towards more time being spent at work by employed people, few studies have examined the independent influences of work-based versus home-based social networks on employees' health. We examined the association between work-based social networks and health status by controlling for home-based social networks in a cross-sectional study. By employing a two-stage stratified random sampling procedure, 1105 employees were identified from 46 companies in Okayama, Japan, in 2007. Work-based social networks were assessed by asking the number of co-workers whom they consult with ease on personal issues. The outcome was self-rated health; the adjusted OR for poor health compared employees with no network with those who have larger networks. Although a clear (and inverse) dose-response relationship was found between the size of work-based social networks and poor health (OR 1.53, 95% CI 1.03 to 2.27, comparing those with the lowest versus highest level of social network), the association was attenuated to statistical non-significance after we controlled for the size of home-based social networks. In further analyses stratified on age groups, in older workers (> or =50 years) work-based social networks were apparently associated with better health status, whereas home-based networks were not. The reverse was true among middle-aged workers (30-49 years). No associations were found among younger workers (<30 years). The present study suggests a differential association of alternative sources of social support on health according to age groups. We hypothesise that these patterns reflect generational differences in workers' commitment to their workplace.
A prevalence-based association test for case-control studies.
Ryckman, Kelli K; Jiang, Lan; Li, Chun; Bartlett, Jacquelaine; Haines, Jonathan L; Williams, Scott M
2008-11-01
Genetic association is often determined in case-control studies by the differential distribution of alleles or genotypes. Recent work has demonstrated that association can also be assessed by deviations from the expected distributions of alleles or genotypes. Specifically, multiple methods motivated by the principles of Hardy-Weinberg equilibrium (HWE) have been developed. However, these methods do not take into account many of the assumptions of HWE. Therefore, we have developed a prevalence-based association test (PRAT) as an alternative method for detecting association in case-control studies. This method, also motivated by the principles of HWE, uses an estimated population allele frequency to generate expected genotype frequencies instead of using the case and control frequencies separately. Our method often has greater power, under a wide variety of genetic models, to detect association than genotypic, allelic or Cochran-Armitage trend association tests. Therefore, we propose PRAT as a powerful alternative method of testing for association.
Sun Exposure and Melanoma Survival: A GEM Study
Berwick, Marianne; Reiner, Anne S.; Paine, Susan; Armstrong, Bruce K.; Kricker, Anne; Goumas, Chris; Cust, Anne E.; Thomas, Nancy E.; Groben, Pamela A.; From, Lynn; Busam, Klaus; Orlow, Irene; Marrett, Loraine D.; Gallagher, Richard P.; Gruber, Stephen B.; Anton-Culver, Hoda; Rosso, Stefano; Zanetti, Roberto; Kanetsky, Peter A.; Dwyer, Terry; Venn, Alison; Lee-Taylor, Julia; Begg, Colin B.
2014-01-01
Background We previously reported a significant association between higher ultraviolet radiation exposure before diagnosis and greater survival with melanoma in a population-based study in Connecticut. We sought to evaluate the hypothesis that sun exposure prior to diagnosis was associated with greater survival in a larger, international population-based study with more detailed exposure information. Methods We conducted a multi-center, international population-based study in four countries – Australia, Italy, Canada and the United States – with 3,578 cases of melanoma with an average of 7.4 years of follow-up. Measures of sun exposure included sunburn, intermittent exposure, hours of holiday sun exposure, hours of water-related outdoor activities, ambient UVB dose, histological solar elastosis and season of diagnosis. Results Results were not strongly supportive of the earlier hypothesis. Having had any sunburn in one year within 10 years of diagnosis was inversely associated with survival; solar elastosis – a measure of lifetime cumulative exposure – was not. Additionally, none of the intermittent exposure measures – water related activities and sunny holidays - were associated with melanoma-specific survival. Estimated ambient UVB dose was not associated with survival. Conclusion Although there was an apparent protective effect of sunburns within 10 years of diagnosis, there was only weak evidence in this large, international, population-based study of melanoma that sun exposure prior to diagnosis is associated with greater melanoma-specific survival. Impact This study adds to the evidence that sun exposure prior to melanoma diagnosis has little effect on survival with melanoma. PMID:25069694
Kari, Jaana T.; Pehkonen, Jaakko; Hirvensalo, Mirja; Yang, Xiaolin; Hutri-Kähönen, Nina; Raitakari, Olli T.; Tammelin, Tuija H.
2015-01-01
This study examined the relationship between income and physical activity by using three measures to illustrate daily physical activity: the self-reported physical activity index for leisure-time physical activity, pedometer-based total steps for overall daily physical activity, and pedometer-based aerobic steps that reflect continuous steps for more than 10 min at a time. The study population consisted of 753 adults from Finland (mean age 41.7 years; 64% women) who participated in 2011 in the follow-up of the ongoing Young Finns study. Ordinary least squares models were used to evaluate the associations between income and physical activity. The consistency of the results was explored by using register-based income information from Statistics Finland, employing the instrumental variable approach, and dividing the pedometer-based physical activity according to weekdays and weekend days. The results indicated that higher income was associated with higher self-reported physical activity for both genders. The results were robust to the inclusion of the control variables and the use of register-based income information. However, the pedometer-based results were gender-specific and depended on the measurement day (weekday vs. weekend day). In more detail, the association was positive for women and negative or non-existing for men. According to the measurement day, among women, income was positively associated with aerobic steps despite the measurement day and with totals steps measured on the weekend. Among men, income was negatively associated with aerobic steps measured on weekdays. The results indicate that there is an association between income and physical activity, but the association is gender-specific and depends on the measurement type of physical activity. PMID:26317865
Kari, Jaana T; Pehkonen, Jaakko; Hirvensalo, Mirja; Yang, Xiaolin; Hutri-Kähönen, Nina; Raitakari, Olli T; Tammelin, Tuija H
2015-01-01
This study examined the relationship between income and physical activity by using three measures to illustrate daily physical activity: the self-reported physical activity index for leisure-time physical activity, pedometer-based total steps for overall daily physical activity, and pedometer-based aerobic steps that reflect continuous steps for more than 10 min at a time. The study population consisted of 753 adults from Finland (mean age 41.7 years; 64% women) who participated in 2011 in the follow-up of the ongoing Young Finns study. Ordinary least squares models were used to evaluate the associations between income and physical activity. The consistency of the results was explored by using register-based income information from Statistics Finland, employing the instrumental variable approach, and dividing the pedometer-based physical activity according to weekdays and weekend days. The results indicated that higher income was associated with higher self-reported physical activity for both genders. The results were robust to the inclusion of the control variables and the use of register-based income information. However, the pedometer-based results were gender-specific and depended on the measurement day (weekday vs. weekend day). In more detail, the association was positive for women and negative or non-existing for men. According to the measurement day, among women, income was positively associated with aerobic steps despite the measurement day and with totals steps measured on the weekend. Among men, income was negatively associated with aerobic steps measured on weekdays. The results indicate that there is an association between income and physical activity, but the association is gender-specific and depends on the measurement type of physical activity.
Dose-Dependent Associations between Wine Drinking and Breast Cancer Risk - Meta-Analysis Findings.
Chen, Jia-Yan; Zhu, Hong-Cheng; Guo, Qing; Shu, Zheng; Bao, Xu-Hui; Sun, Feng; Qin, Qin; Yang, Xi; Zhang, Chi; Cheng, Hong-Yan; Sun, Xin-Chen
2016-01-01
To investigate any potential association between wine and breast cancer risk. We quantitatively assessed associations by conducting a meta-analysis based on evidence from observational studies. In May 2014, we performed electronic searches in PubMed, EmBase and the Cochrane Library to identify studies examining the effect of wine drinking on breast cancer incidence. The relative risk (RR) or odds ratio (OR) were used to measure any such association. The analysis was further stratified by confounding factors that could influence the results. A total of twenty-six studies (eight case-control and eighteen cohort studies) involving 21,149 cases were included in our meta-analysis. Our study demonstrated that wine drinking was associated with breast cancer risk. A 36% increase in breast cancer risk was observed across overall studies based on the highest versus lowest model, with a combined RR of 1.0059 (95%CI 0.97-1.05) in dose-response analysis. However, 5 g/d ethanol from wine seemed to have protective value from our non-linear model. Our findings indicate that wine drinking is associated with breast cancer risk in a dose-dependent manner. High consumption of wine contributes to breast cancer risk with protection exerted by low doses. Further investigations are needed for clarification.
Zhou, Liyuan; Liu, Shouye; Wu, Weixun; Chen, Daibo; Zhan, Xiaodeng; Zhu, Aike; Zhang, Yingxin; Cheng, Shihua; Cao, Liyong; Lou, Xiangyang; Xu, Haiming
2016-01-01
Xieyou9308 is a certified super hybrid rice cultivar with a high grain yield. To investigate its underlying genetic basis of high yield potential, a recombinant inbred line (RIL) population derived from the cross between the maintainer line XieqingzaoB (XQZB) and the restorer line Zhonghui9308 (ZH9308) was constructed for identification of quantitative trait SNPs (QTSs) associated with two important agronomic traits, plant height (PH) and heading date (HD). By re-sequencing of 138 recombinant inbred lines (RILs), a total of ~0.7 million SNPs were identified for the association studies on the PH and HD. Three association mapping strategies (including hypothesis-free genome-wide association and its two complementary hypothesis-engaged ones, QTL-based association and gene-based association) were adopted for data analysis. Using a saturated mixed linear model including epistasis and environmental interaction, we identified a total of 31 QTSs associated with either the PH or the HD. The total estimated heritability across three analyses ranged from 37.22% to 45.63% and from 37.53% to 55.96% for the PH and HD, respectively. In this study we examined the feasibility of association studies in an experimental population (RIL) and identified several common loci through multiple strategies which could be preferred candidates for further research. PMID:27406081
ERIC Educational Resources Information Center
Meece, Darrell; Mize, Jacquelyn; Bates, John E.; Dodge, Kenneth A.; Pettit, Gregory S.; Luster, Tom
2007-01-01
This study examined the hypothesis that the association between hostile attributions and aggressive behavior with peers is moderated by children's temperament among three samples of preschoolers. Hostile attributions were assessed through videotape-based and story-based laboratory procedures. Maternal ratings and laboratory-based assessment…
Johansen, Christoffer; Schüz, Joachim; Andreasen, Anne-Marie Serena; Dalton, Susanne Oksbjerg
2017-03-28
Glioma is a rare brain tumour with a very poor prognosis and the search for modifiable factors is intense. We reviewed the literature concerning risk factors for glioma obtained in case-control designed epidemiological studies in order to discuss the influence of this methodology on the observed results. When reviewing the association between three exposures, medical radiation, exogenous hormone use and allergy, we critically appraised the evidence from both case-control and cohort studies. For medical radiation and hormone replacement therapy (HRT), questionnaire-based case-control studies appeared to show an inverse association, whereas nested case-control and cohort studies showed no association. For allergies, the inverse association was observed irrespective of study design. We recommend that the questionnaire-based case-control design be placed lower in the hierarchy of studies for establishing cause-and-effect for diseases such as glioma. We suggest that a state-of-the-art case-control study should, as a minimum, be accompanied by extensive validation of the exposure assessment methods and the representativeness of the study sample with regard to the exposures of interest. Otherwise, such studies cannot be regarded as 'hypothesis testing' but only 'hypothesis generating'. We consider that this holds true for all questionnaire-based case-control studies on cancer and other chronic diseases, although perhaps not to the same extent for each exposure-outcome combination.
Silva, Denize Francisca da; Barros, Warley Rocha; Almeida, Maria da Conceição Chagas de; Rêgo, Marco Antônio Vasconcelos
2015-10-01
The aim of this study was to investigate the association between exposure to non-ionizing electromagnetic radiation from mobile phone base stations and psychiatric symptoms. In a cross-sectional study in Salvador, Bahia State, Brazil, 440 individuals were interviewed. Psychiatric complaints and diagnoses were the dependent variables and distance from the individual's residence to the base station was considered the main independent variable. Hierarchical logistic regression analysis was conducted to assess confounding. An association was observed between psychiatric symptoms and residential proximity to the base station and different forms of mobile phone use (making calls with weak signal coverage, keeping the mobile phone close to the body, having two or more chips, and never turning off the phone while sleeping), and with the use of other electronic devices. The study concluded that exposure to electromagnetic radiation from mobile phone base stations and other electronic devices was associated with psychiatric symptoms, independently of gender, schooling, and smoking status. The adoption of precautionary measures to reduce such exposure is recommended.
Subcopula-based measure of asymmetric association for contingency tables.
Wei, Zheng; Kim, Daeyoung
2017-10-30
For the analysis of a two-way contingency table, a new asymmetric association measure is developed. The proposed method uses the subcopula-based regression between the discrete variables to measure the asymmetric predictive powers of the variables of interest. Unlike the existing measures of asymmetric association, the subcopula-based measure is insensitive to the number of categories in a variable, and thus, the magnitude of the proposed measure can be interpreted as the degree of asymmetric association in the contingency table. The theoretical properties of the proposed subcopula-based asymmetric association measure are investigated. We illustrate the performance and advantages of the proposed measure using simulation studies and real data examples. Copyright © 2017 John Wiley & Sons, Ltd.
ASSOCIATION BETWEEN URINARY MUTAGENICITY AND RISK OF COLORECTAL ADENOMAS IN A CLINIC-BASED CASE-CONTROL STUDY
Humans are exposed to a variety of mutagens from diet, smoking, or occupation. To explore if exposure to mutagens was related to the risk of colorectal adenomas i...
Peer Bonds in Urban School Communities: An Exploratory Study
ERIC Educational Resources Information Center
Leach, Nicole
2018-01-01
The literature identifies three main types of peer associations: cliques, crowds, and dyadic friendships. When schools create learning communities, an additional type of peer association may emerge that is not based on interactions but instead is based on membership in a shared community. The aim of this study is to qualitatively explore the…
Sooner Versus Later: Factors Associated with Temporal Sequencing of Suicide
ERIC Educational Resources Information Center
Kaplan, Mark S.; McFarland, Bentson H.; Huguet, Nathalie; Newsom, Jason T.
2006-01-01
There are few (if any) population-based prospective studies that provide information on factors associated with temporal sequencing of suicide. In this prospective population-based study, the National Health Interview Survey (NHIS), 1986-1994, was linked to the National Death Index (NDI), 1986-1997, to assess factors that predict recent (within 12…
Keenan, J J; Gaffney, S; Gross, S A; Ronk, C J; Paustenbach, D J; Galbraith, D; Kerger, B D
2013-10-01
The presence of benzene in motor gasoline has been a health concern for potential increased risk of acute myelogenous leukemia and perhaps other lymphatic/hematopoietic cancers for approximately 40 years. Because of the widespread and increasing use of gasoline by consumers and the high exposure potential of occupational cohorts, a thorough understanding of this issue is important. The current study utilizes an evidence-based approach to examine whether or not the available epidemiologic studies demonstrate a strong and consistent association between occupational exposure to gasoline and lymphatic/hematopoietic cancers. Among 67 epidemiologic studies initially identified, 54 were ranked according to specific criteria relating to the relevance and robustness of each study for answering the research question. The 30 highest-ranked studies were sorted into three tiers of evidence and were analyzed for strength, specificity, consistency, temporality, dose-response trends and coherence. Meta statistics were also calculated for each general and specific lymphatic/hematopoietic cancer category with adequate data. The evidence-based analysis did not confirm any strong and consistent association between occupational exposure to gasoline and lymphatic/hematopoietic cancers based on the epidemiologic studies available to date. These epidemiologic findings, combined with the evidence showing relatively low occupational benzene vapor exposures associated with gasoline formulations during the last three decades, suggest that current motor gasoline formulations are not associated with increased lymphatic/hematopoietic cancer risks related to benzene.
Kilaru, V; Iyer, S V; Almli, L M; Stevens, J S; Lori, A; Jovanovic, T; Ely, T D; Bradley, B; Binder, E B; Koen, N; Stein, D J; Conneely, K N; Wingo, A P; Smith, A K; Ressler, K J
2016-05-24
Post-traumatic stress disorder (PTSD) develops in only some people following trauma exposure, but the mechanisms differentially explaining risk versus resilience remain largely unknown. PTSD is heritable but candidate gene studies and genome-wide association studies (GWAS) have identified only a modest number of genes that reliably contribute to PTSD. New gene-based methods may help identify additional genes that increase risk for PTSD development or severity. We applied gene-based testing to GWAS data from the Grady Trauma Project (GTP), a primarily African American cohort, and identified two genes (NLGN1 and ZNRD1-AS1) that associate with PTSD after multiple test correction. Although the top SNP from NLGN1 did not replicate, we observed gene-based replication of NLGN1 with PTSD in the Drakenstein Child Health Study (DCHS) cohort from Cape Town. NLGN1 has previously been associated with autism, and it encodes neuroligin 1, a protein involved in synaptogenesis, learning, and memory. Within the GTP dataset, a single nucleotide polymorphism (SNP), rs6779753, underlying the gene-based association, associated with the intermediate phenotypes of higher startle response and greater functional magnetic resonance imaging activation of the amygdala, orbitofrontal cortex, right thalamus and right fusiform gyrus in response to fearful faces. These findings support a contribution of the NLGN1 gene pathway to the neurobiological underpinnings of PTSD.
Kilaru, V; Iyer, S V; Almli, L M; Stevens, J S; Lori, A; Jovanovic, T; Ely, T D; Bradley, B; Binder, E B; Koen, N; Stein, D J; Conneely, K N; Wingo, A P; Smith, A K; Ressler, K J
2016-01-01
Post-traumatic stress disorder (PTSD) develops in only some people following trauma exposure, but the mechanisms differentially explaining risk versus resilience remain largely unknown. PTSD is heritable but candidate gene studies and genome-wide association studies (GWAS) have identified only a modest number of genes that reliably contribute to PTSD. New gene-based methods may help identify additional genes that increase risk for PTSD development or severity. We applied gene-based testing to GWAS data from the Grady Trauma Project (GTP), a primarily African American cohort, and identified two genes (NLGN1 and ZNRD1-AS1) that associate with PTSD after multiple test correction. Although the top SNP from NLGN1 did not replicate, we observed gene-based replication of NLGN1 with PTSD in the Drakenstein Child Health Study (DCHS) cohort from Cape Town. NLGN1 has previously been associated with autism, and it encodes neuroligin 1, a protein involved in synaptogenesis, learning, and memory. Within the GTP dataset, a single nucleotide polymorphism (SNP), rs6779753, underlying the gene-based association, associated with the intermediate phenotypes of higher startle response and greater functional magnetic resonance imaging activation of the amygdala, orbitofrontal cortex, right thalamus and right fusiform gyrus in response to fearful faces. These findings support a contribution of the NLGN1 gene pathway to the neurobiological underpinnings of PTSD. PMID:27219346
Parental and comorbid epilepsy in persons with bipolar disorder.
Sucksdorff, Dan; Brown, Alan S; Chudal, Roshan; Jokiranta-Olkoniemi, Elina; Leivonen, Susanna; Suominen, Auli; Heinimaa, Markus; Sourander, Andre
2015-12-01
Population-based studies have demonstrated an overrepresentation of bipolar disorder (BPD) in individuals with epilepsy. However, few studies have examined the reverse association, i.e. comorbid epilepsy in individuals selected based on BPD diagnosis. No previous population-based study having examined the co-occurrence of BPD and epilepsy has adjusted for parental psychopathology. Such an adjustment is motivated by population-based studies reporting an overrepresentation of various types of parental psychiatric disorders in both BPD and epilepsy. Furthermore, an association between epilepsy in first-degree relatives and BPD has previously only been examined and demonstrated in a small clinical sample. The objective of this study is to examine the associations between parental and comorbid epilepsy and BPD, adjusting for parental psychopathology. This nested case-control study identified 1861 cases with BPD, age up to 25 years, 3643 matched controls, and their parents from Finnish national registers. Conditional logistic regression was used to calculate odds ratios (ORs) with 95% confidence intervals (CIs) and two-sided significance limits of p<0.05. BPD was associated with comorbid epilepsy (adjusted OR 2.53, 95% CI: 1.73-3.70) but not with parental epilepsy. Epilepsy was found in 3.33% of cases versus 1.29% of controls, 2.69% of cases' parents versus 2.53% of controls' parents. The diagnoses were register-based, not based on standardized procedures with direct ascertainment. An association between BPD and comorbid epilepsy persists even after adjusting for parental psychopathology. Lack of familial clustering of BPD and epilepsy would suggest that the elevated co-occurrence of these disorders is influenced by non-genetic factors. Copyright © 2015 Elsevier B.V. All rights reserved.
General Framework for Meta-analysis of Rare Variants in Sequencing Association Studies
Lee, Seunggeun; Teslovich, Tanya M.; Boehnke, Michael; Lin, Xihong
2013-01-01
We propose a general statistical framework for meta-analysis of gene- or region-based multimarker rare variant association tests in sequencing association studies. In genome-wide association studies, single-marker meta-analysis has been widely used to increase statistical power by combining results via regression coefficients and standard errors from different studies. In analysis of rare variants in sequencing studies, region-based multimarker tests are often used to increase power. We propose meta-analysis methods for commonly used gene- or region-based rare variants tests, such as burden tests and variance component tests. Because estimation of regression coefficients of individual rare variants is often unstable or not feasible, the proposed method avoids this difficulty by calculating score statistics instead that only require fitting the null model for each study and then aggregating these score statistics across studies. Our proposed meta-analysis rare variant association tests are conducted based on study-specific summary statistics, specifically score statistics for each variant and between-variant covariance-type (linkage disequilibrium) relationship statistics for each gene or region. The proposed methods are able to incorporate different levels of heterogeneity of genetic effects across studies and are applicable to meta-analysis of multiple ancestry groups. We show that the proposed methods are essentially as powerful as joint analysis by directly pooling individual level genotype data. We conduct extensive simulations to evaluate the performance of our methods by varying levels of heterogeneity across studies, and we apply the proposed methods to meta-analysis of rare variant effects in a multicohort study of the genetics of blood lipid levels. PMID:23768515
Seyfart, Tom; Friedrich, Nele; Kische, Hanna; Bülow, Robin; Wallaschofski, Henri; Völzke, Henry; Nauck, Matthias; Keevil, Brian G; Haring, Robin
2018-01-01
The aim of this study was to evaluate the association of sex hormones with anthropometry in a large population-based cohort, with liquid chromatography-mass spectrometry (LCMS)-based sex hormone measurements and imaging markers. Cross-sectional data from 957 men and women from the population-based Study of Health in Pomerania (SHIP) were used. Associations of a comprehensive panel of LCMS-measured sex hormones with anthropometric parameters, laboratory, and imaging markers were analyzed in multivariable regression models for the full sample and stratified by sex. Sex hormone measures included total testosterone (TT), free testosterone (fT), estrone and estradiol, androstenedione (ASD), dehydroepiandrosterone sulfate (DHEAS), and sex hormone-binding globulin (SHBG). Domains of anthropometry included physical measures (body-mass-index (BMI), waist circumference, waist-to-height-ratio, waist-to-hip-ratio, and hip circumference), laboratory measures of adipokines (leptin and vaspin), and magnet resonance imaging-based measures (visceral and subcutaneous adipose tissue). In men, inverse associations between all considered anthropometric parameters with TT were found: BMI (β-coefficient, standard error (SE): -0.159, 0.037), waist-circumference (β-coefficient, SE: -0.892, 0.292), subcutaneous adipose tissue (β-coefficient, SE: -0.156, 0.023), and leptin (β-coefficient, SE: -0.046, 0.009). In women TT (β-coefficient, SE: 1.356, 0.615) and estrone (β-coefficient, SE: 0.014, 0.005) were positively associated with BMI. In analyses of variance, BMI and leptin were inversely associated with TT, ASD, and DHEAS in men, but positively associated with estrone. In women, BMI and leptin were positively associated with all sex hormones. The present population-based study confirmed and extended previously reported sex-specific associations between sex hormones and various anthropometric markers of overweight and obesity.
Association of Phosphodiesterase 4D with ischemic stroke: a population-based case-control study.
Woo, Daniel; Kaushal, Ritesh; Kissela, Brett; Sekar, Padmini; Wolujewicz, Michael; Pal, Prodipto; Alwell, Kathleen; Haverbusch, Mary; Ewing, Irene; Miller, Rosie; Kleindorfer, Dawn; Flaherty, Matthew; Chakraborty, Ranajit; Deka, Ranjan; Broderick, Joseph
2006-02-01
The Phosphodiesterase 4D (PDE4D) gene was reported recently to be associated with ischemic stroke in an Icelandic population. The association was found predominately with large vessel and cardioembolic stroke. However, 2 recent reports were unable to confirm this association, although a trend toward association with cardioembolic stroke was reported. None of the reports included significant proportions of blacks. We tested for genotype and haplotype association of polymorphisms of the PDE4D gene with ischemic stroke in a population-based, biracial, case-control study. A total of 357 cases of ischemic stroke and 482 stroke-free controls from the same community were examined. Single nucleotide polymorphisms (SNPs) were chosen based on significant associations reported previously. Linkage disequilibrium (LD), SNP, and haplotype association analysis was performed using PHASE 2.0 and Haploview 3.2. Although several univariate associations were identified, only 1 SNP (rs2910829) was found to be significantly associated with cardioembolic stroke among both whites and blacks. The rs152312 SNP was associated with cardioembolic stroke among whites after multiple comparison corrections. The same SNP was not associated with cardioembolic stroke among blacks. However, significant haplotype association was identified for both whites and blacks for all ischemic stroke, cardioembolic stroke, and stroke of unknown origin. Haplotype association was identified for small vessel stroke among whites. PDE4D is a risk factor for ischemic stroke and, in particular, for cardioembolic stroke, among whites and blacks. Further study of this gene is warranted.
Brautbar, Ariel; Pompeii, Lisa A; Dehghan, Abbas; Ngwa, Julius S; Nambi, Vijay; Virani, Salim S; Rivadeneira, Fernando; Uitterlinden, André G; Hofman, Albert; Witteman, Jacqueline C M; Pencina, Michael J; Folsom, Aaron R; Cupples, L Adrienne; Ballantyne, Christie M; Boerwinkle, Eric
2012-08-01
Multiple studies have identified single-nucleotide polymorphisms (SNPs) that are associated with coronary heart disease (CHD). We examined whether SNPs selected based on predefined criteria will improve CHD risk prediction when added to traditional risk factors (TRFs). SNPs were selected from the literature based on association with CHD, lack of association with a known CHD risk factor, and successful replication. A genetic risk score (GRS) was constructed based on these SNPs. Cox proportional hazards model was used to calculate CHD risk based on the Atherosclerosis Risk in Communities (ARIC) and Framingham CHD risk scores with and without the GRS. The GRS was associated with risk for CHD (hazard ratio [HR] = 1.10; 95% confidence interval [CI]: 1.07-1.13). Addition of the GRS to the ARIC risk score significantly improved discrimination, reclassification, and calibration beyond that afforded by TRFs alone in non-Hispanic whites in the ARIC study. The area under the receiver operating characteristic curve (AUC) increased from 0.742 to 0.749 (Δ = 0.007; 95% CI, 0.004-0.013), and the net reclassification index (NRI) was 6.3%. Although the risk estimates for CHD in the Framingham Offspring (HR = 1.12; 95% CI: 1.10-1.14) and Rotterdam (HR = 1.08; 95% CI: 1.02-1.14) Studies were significantly improved by adding the GRS to TRFs, improvements in AUC and NRI were modest. Addition of a GRS based on direct associations with CHD to TRFs significantly improved discrimination and reclassification in white participants of the ARIC Study, with no significant improvement in the Rotterdam and Framingham Offspring Studies. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.
Adolescent socio-economic and school-based social status, health and well-being
Sweeting, Helen; Hunt, Kate
2014-01-01
Studies of adults and adolescents suggest subjective socio-economic status (SES) is associated with health/well-being even after adjustment for objective SES. In adolescence, objective SES may have weaker relationships with health/well-being than at other life stages; school-based social status may be of greater relevance. We investigated the associations which objective SES (residential deprivation and family affluence), subjective SES and three school-based subjective social status dimensions (“SSS-peer”, “SSS-scholastic” and “SSS-sports”) had with physical symptoms, psychological distress and anger among 2503 Scottish 13–15 year-olds. Associations between objective SES and health/well-being were weak and inconsistent. Lower subjective SES was associated with increased physical symptoms and psychological distress, lower SSS-peer with increased psychological distress but reduced anger, lower SSS-scholastic with increased physical symptoms, psychological distress and anger, and lower SSS-sports with increased physical symptoms and psychological distress. Associations did not differ by gender. Objective and subjective SES had weaker associations with health/well-being than did school-based SSS dimensions. These findings underline the importance of school-based SSS in adolescence, and the need for future studies to include a range of school-based SSS dimensions and several health/well-being measures. They also highlight the need for a focus on school-based social status among those working to promote adolescent health/well-being. PMID:25306408
Age-Related Variation in Health Service Use and Associated Expenditures among Children with Autism
ERIC Educational Resources Information Center
Cidav, Zuleyha; Lawer, Lindsay; Marcus, Steven C.; Mandell, David S.
2013-01-01
This study examined differences by age in service use and associated expenditures during 2005 for Medicaid-enrolled children with autism spectrum disorders. Aging was associated with significantly higher use and costs for restrictive, institution-based care and lower use and costs for community-based therapeutic services. Total expenditures…
Factors Associated with Teacher Delivery of a Classroom-Based Tier 2 Prevention Program
ERIC Educational Resources Information Center
Sutherland, Kevin S; Conroy, Maureen A; McLeod, Bryce D; Algina, James; Kunemund, Rachel L
2018-01-01
Teachers sometimes struggle to deliver evidence based programs designed to prevent and ameliorate chronic problem behaviors of young children with integrity. Identifying factors associated with variations in the quantity and quality of delivery is thus an important goal for the field. This study investigated factors associated with teacher…
Association of ALOX5AP with ischemic stroke: a population-based case-control study.
Kaushal, Ritesh; Pal, Prodipto; Alwell, Kathleen; Haverbusch, Mary; Flaherty, Matthew; Moomaw, Charles; Sekar, Padmini; Kissela, Brett; Kleindorfer, Dawn; Chakraborty, Ranajit; Broderick, Joseph; Deka, Ranjan; Woo, Daniel
2007-06-01
Arachidonate 5-lipoxygenase activating protein (ALOX5AP) has been reported to demonstrate linkage and association with ischemic stroke and myocardial infarction. However, replication studies have been conflicting and to date, a significant proportion of blacks have not been studied. We prospectively recruited cases of ischemic stroke from all 16 hospitals in the Greater Cincinnati/Northern Kentucky region and demographically matched them to stroke-free population-based controls. Single nucleotide polymorphisms (SNPs) were selected based on association with ischemic stroke in prior studies. Allelic, genotypic and haplotypic association testing was performed using HAPLOVIEW. Multiple logistic regression was used to control for the presence of traditional risk factors including hypertension, diabetes, hypercholesterolemia and smoking. A total of 357 cases and 482 controls were genotyped. The SNPs, rs9579646 and rs4769874 were found to be significantly associated at both allelic (P=0.019 and P<10(-4), respectively) and genotypic level with ischemic stroke among whites after correction for multiple testing. Haplotype association was identified with ischemic stroke as well as ischemic stroke subtypes among whites. Although an overall haplotype association with ischemic stroke was identified among blacks no evidence of association among individual haplotypes, alleles or genotypes were observed. Allele frequencies for the SNPs examined were markedly different among whites and blacks. In conclusion, we report significant association of variants of ALOX5AP with ischemic stroke and ischemic stroke subtypes among whites. No significant association was identified among blacks.
2011-01-01
Background Disrupted-in-Schizophrenia 1 (DISC1) gene is one of the most promising candidate genes for major mental disorders. In a previous study, a Finnish group demonstrated that DISC1 polymorphisms were associated with autism and Asperger syndrome. However, the results were not replicated in Korean population. To determine whether DISC1 is associated with autism in Chinese Han population, we performed a family-based association study between DISC1 polymorphisms and autism. Methods We genotyped seven tag single nucleotide polymorphisms (SNPs) in DISC1, spanning 338 kb, in 367 autism trios (singleton and their biological parents) including 1,101 individuals. Single SNP association and haplotype association analysis were performed using the family-based association test (FBAT) and Haploview software. Results We found three SNPs showed significant associations with autism (rs4366301: G > C, Z = 2.872, p = 0.004; rs11585959: T > C, Z = 2.199, p = 0.028; rs6668845: A > G, Z = 2.326, p = 0.02). After the Bonferroni correction, SNP rs4366301, which located in the first intron of DISC1, remained significant. When haplotype were constructed with two-markers, three haplotypes displayed significant association with autism. These results were still significant after using the permutation method to obtain empirical p values. Conclusions Our study provided evidence that the DISC1 may be the susceptibility gene of autism. It suggested DISC1 might play a role in the pathogenesis of autism. PMID:21569632
Seyfart, Tom; Friedrich, Nele; Bülow, Robin; Wallaschofski, Henri; Völzke, Henry; Nauck, Matthias; Keevil, Brian G.; Haring, Robin
2018-01-01
Objectives The aim of this study was to evaluate the association of sex hormones with anthropometry in a large population-based cohort, with liquid chromatography-mass spectrometry (LCMS)-based sex hormone measurements and imaging markers. Study design/Main outcome measures Cross-sectional data from 957 men and women from the population-based Study of Health in Pomerania (SHIP) were used. Associations of a comprehensive panel of LCMS-measured sex hormones with anthropometric parameters, laboratory, and imaging markers were analyzed in multivariable regression models for the full sample and stratified by sex. Sex hormone measures included total testosterone (TT), free testosterone (fT), estrone and estradiol, androstenedione (ASD), dehydroepiandrosterone sulfate (DHEAS), and sex hormone-binding globulin (SHBG). Domains of anthropometry included physical measures (body-mass-index (BMI), waist circumference, waist-to-height-ratio, waist-to-hip-ratio, and hip circumference), laboratory measures of adipokines (leptin and vaspin), and magnet resonance imaging-based measures (visceral and subcutaneous adipose tissue). Results In men, inverse associations between all considered anthropometric parameters with TT were found: BMI (β-coefficient, standard error (SE): -0.159, 0.037), waist-circumference (β-coefficient, SE: -0.892, 0.292), subcutaneous adipose tissue (β-coefficient, SE: -0.156, 0.023), and leptin (β-coefficient, SE: -0.046, 0.009). In women TT (β-coefficient, SE: 1.356, 0.615) and estrone (β-coefficient, SE: 0.014, 0.005) were positively associated with BMI. In analyses of variance, BMI and leptin were inversely associated with TT, ASD, and DHEAS in men, but positively associated with estrone. In women, BMI and leptin were positively associated with all sex hormones. Conclusion The present population-based study confirmed and extended previously reported sex-specific associations between sex hormones and various anthropometric markers of overweight and obesity. PMID:29324787
Esty, Brittany; Phipatanakul, Wanda
2018-05-01
To provide a comprehensive overview of common school exposures and the association between school exposures and pediatric asthma morbidity. A comprehensive literature review was performed using PubMed. Full-length, peer-reviewed studies published in English were considered for review. In vivo, in vitro, and animal studies were excluded. Studies of school exposure to cockroach, mouse, dust mite, dog, cat, molds, pollution, and endotoxin associated with asthma and asthma morbidity were considered. The current literature establishes an association between school exposure and pediatric asthma morbidity. There is a need for ongoing research to evaluate the effects of school-based environmental interventions on asthma morbidity. It is evident that the indoor school environment is a significant reservoir of allergens, molds, pollutants, and endotoxin and that there is an association between school exposure and pediatric asthma morbidity. School-based interventions have the potential for substantial individual, community, and public health benefit. It is important that researchers continue to study the health effects associated with school exposures and assess cost-effectiveness of multifaceted school-based interventions. Copyright © 2018 American College of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.
Aarons, Gregory A.
2006-01-01
Objective Leadership in organizations is important in shaping workers’ perceptions, responses to organizational change, and acceptance of innovations, such as evidence-based practices. Transformational leadership inspires and motivates followers, whereas transactional leadership is based more on reinforcement and exchanges. Studies have shown that in youth and family service organizations, mental health providers’ attitudes toward adopting an evidence-based practice are associated with organizational context and individual provider differences. The purpose of this study was to expand these findings by examining the association between leadership and mental health providers’ attitudes toward adopting evidence-based practice. Methods Participants were 303 public-sector mental health service clinicians and case managers from 49 programs who were providing mental health services to children, adolescents, and their families. Data were gathered on providers’ characteristics, attitudes toward evidence-based practices, and perceptions of their supervisors’ leadership behaviors. Zero-order correlations and multilevel regression analyses were conducted that controlled for effects of service providers’ characteristics. Results Both transformational and transactional leadership were positively associated with providers’ having more positive attitudes toward adoption of evidence-based practice, and transformational leadership was negatively associated with providers’ perception of difference between the providers’ current practice and evidence-based practice. Conclusions Mental health service organizations may benefit from improving transformational and transactional supervisory leadership skills in preparation for implementing evidence-based practices. PMID:16870968
Carr, Prudence R; Holleczek, Bernd; Stegmaier, Christa; Brenner, Hermann; Hoffmeister, Michael
2017-06-01
Background: Red and processed meats have been shown to be associated with colorectal adenomas in many, but not all, studies, and the association according to the type of colorectal adenoma or the location in the colorectum is unclear. Objectives: We investigated the association of meat intake in relation to colorectal polyps and further investigated the association according to histologic subtypes and subsites in a large population-based screening study in Germany. Design: In this cross-sectional study, 15,950 participants aged ≥55 y underwent a screening colonoscopy. We calculated prevalence ratios (PRs) and 95% CIs for associations between meat intake and the most-advanced findings from a colonoscopy with the use of log binomial regression. Results: Overall, 3340 participants (20.4%) had nonadvanced adenomas, 1643 participants (10.0%) had advanced adenomas, and 189 participants (1.2%) had colorectal cancer. We observed no statistically significant association between red or processed meat consumption and the prevalence of any adenomas or advanced adenomas [highest compared with lowest: red meat, PR: 1.07 (95% CI: 0.83, 1.37); processed meat, PR: 1.11 (95% CI: 0.91, 1.36)]. In site-specific analyses, although no dose-response relation was observed, processed meat was positively associated with the prevalence of advanced adenomas in the rectum only (multiple times per day compared with <1 time/wk, PR: 1.87; 95% CI: 1.19, 2.95). Poultry intake was not associated with any outcome. Conclusions: On the basis of this large colonoscopy-based study, there are no significant associations between red or processed meat intake and the prevalence of any adenomas or advanced adenomas. However, processed meat may be positively associated with the prevalence of advanced adenomas in the rectum, but prospective cohort studies are needed to further clarify this association. There is no association between poultry consumption and the prevalence of colorectal polyps in this study. © 2017 American Society for Nutrition.
Garner, Paul; Cooper, Philip J
2018-01-01
Introduction High asthma prevalence in Latin-American cities is thought to be caused by poor hygiene and infections. This contradicts the widely accepted ‘hygiene hypothesis’ for asthma aetiology. Methods Systematic review of observational studies evaluating the association between poor hygiene exposures or infections and asthma/wheeze among Latin-American children aged 4–16 years. MEDLINE, EMBASE, LILACS and CINAHL electronic databases were searched following a predefined strategy to 18 December 2017. We quantified outcomes measured and reported, assessed risk of bias and tabulated the results. Results Forty-five studies included: 6 cohort, 30 cross-sectional and 9 case–control studies. 26 cross-sectional studies were school-based surveys (14 of over 3000 children), whereas 5 case–control studies were hospital/health centre-based. Exposures measured and reported varied substantially between studies, and current wheeze was the most common outcome reported. Data showed selective reporting based on statistical significance (P value <0.05): 17/45 studies did not clearly describe the number of exposures measured and 15/45 studies reported on less than 50% of the exposures measured. Most exposures studied did not show an association with wheeze or asthma, except for a generally increased risk associated with acute respiratory infections in early life. Contradictory associations were observed frequently between different studies. Conclusion Selective reporting is common in observational studies exploring the association between environmental exposures and risk of wheeze/asthma. This, together with the use of different study outcomes (wheeze/asthma) associated with possibly distinct causal mechanisms, complicates inferences about the role of poor hygiene exposures and childhood infections in explaining asthma prevalence in Latin-American children. PMID:29531744
Ardura-Garcia, Cristina; Garner, Paul; Cooper, Philip J
2018-01-01
High asthma prevalence in Latin-American cities is thought to be caused by poor hygiene and infections. This contradicts the widely accepted 'hygiene hypothesis' for asthma aetiology. Systematic review of observational studies evaluating the association between poor hygiene exposures or infections and asthma/wheeze among Latin-American children aged 4-16 years. MEDLINE, EMBASE, LILACS and CINAHL electronic databases were searched following a predefined strategy to 18 December 2017. We quantified outcomes measured and reported, assessed risk of bias and tabulated the results. Forty-five studies included: 6 cohort, 30 cross-sectional and 9 case-control studies. 26 cross-sectional studies were school-based surveys (14 of over 3000 children), whereas 5 case-control studies were hospital/health centre-based. Exposures measured and reported varied substantially between studies, and current wheeze was the most common outcome reported. Data showed selective reporting based on statistical significance (P value <0.05): 17/45 studies did not clearly describe the number of exposures measured and 15/45 studies reported on less than 50% of the exposures measured. Most exposures studied did not show an association with wheeze or asthma, except for a generally increased risk associated with acute respiratory infections in early life. Contradictory associations were observed frequently between different studies. Selective reporting is common in observational studies exploring the association between environmental exposures and risk of wheeze/asthma. This, together with the use of different study outcomes (wheeze/asthma) associated with possibly distinct causal mechanisms, complicates inferences about the role of poor hygiene exposures and childhood infections in explaining asthma prevalence in Latin-American children.
Tabuchi, Takahiro; Fukuhara, Hiroyuki; Iso, Hiroyasu
2012-09-01
Perceived discrimination has been shown to be associated with health. However, it is uncertain whether discrimination based on geographical place of residence (geographically-based discrimination), such as Buraku or Nishinari discrimination in Japan, is associated with health. We conducted a cross-sectional study (response rate = 52.3%) from February to March 2009 in a Buraku district of Nishinari ward in Osaka city, one of the most deprived areas in Japan. We implemented sex-stratified and education-stratified multivariate regression models to examine the association between geographically-based discrimination and two mental health outcomes (depressive symptoms and diagnosis of mental illness) with adjustment for age, socioeconomic status, social relationships and lifestyle factors. A total of 1994 persons aged 25-79 years (928 men and 1066 women) living in the district were analyzed. In the fully-adjusted model, perceived geographically-based discrimination was significantly associated with depressive symptoms and diagnosis of mental illness. It was more strongly associated among men or highly educated people than among women or among less educated people. The effect of geographically-based discrimination on mental health is independent of socioeconomic status, social relationship and lifestyle factors. Geographically-based discrimination may be one of the social determinants of mental health. Copyright © 2012. Published by Elsevier Ltd.
A systematic review of psychoneuroimmunology-based interventions.
Moraes, Lucam J; Miranda, Márcia B; Loures, Liliany F; Mainieri, Alessandra G; Mármora, Cláudia Helena C
2018-07-01
Psychoneuroimmunology-based interventions are used to attenuated disease progression and/or side effects of pharmacological treatment. This systematic review evaluates the different therapeutic and/or clinical psychoneuroimmunology-based interventions associated to both psychological, neuroendocrine and immunological variables. The review was conducted for all English, Portuguese and Spanish language articles published between 2005 and 2015. Independent investigators analyzed 42 studies concerning human psychoneuroimmunology-based interventions. Decreased levels of cortisol, epinephrine and norepinephrine (stress-related hormones) were associated to interventions like yoga, meditation, tai chi, acupuncture, mindfulness, religious/spiritual practices, cognitive behavior therapy, coping and physical exercises. Moreover, those interventions were also associated to reductions in inflammatory processes and levels of pro-inflammatory cytokines in cancer, HIV, depression, anxiety, wound healing, sleep disorder, cardiovascular diseases and fibromyalgia. Despite the associations between PNI variables and clinical/therapeutic interventions, only one study evidenced significant effects on a disease progression.
ERIC Educational Resources Information Center
Chang, Jen Jen; Theodore, Adrea D.; Martin, Sandra L.; Runyan, Desmond K.
2008-01-01
Objective: This study examined the association between partner psychological abuse and child maltreatment perpetration. Methods: This cross-sectional study examined a population-based sample of mothers with children aged 0-17 years in North and South Carolina (n = 1,149). Mothers were asked about the occurrence of potentially neglectful or abusive…
ERIC Educational Resources Information Center
Sciglimpaglia, Donald; Toole, Howard R.
2010-01-01
This study reports the results of a comparative study of American business schools and Australian schools of commerce regarding utilization of field-based consultancy and associated critical variables. Respondents in the survey were 141 deans of Association to Advance Collegiate Schools of Business (AACSB) accredited business schools in the United…
USDA-ARS?s Scientific Manuscript database
Genotyping by sequencing allows for large-scale genetic analyses in plant species with no reference genome, but sets the challenge of sound inference in presence of uncertain genotypes. We report an imputation-based genome-wide association study (GWAS) in reed canarygrass (Phalaris arundinacea L., P...
ERIC Educational Resources Information Center
Ikaheimo, Olli; Laukkanen, Matti; Hakko, Helina; Rasanen, Pirkko
2013-01-01
The influence of family structure on criminality in adolescents is well acknowledged in population based studies of delinquents, but not regarding adolescent psychiatric inpatients. The association of family structure to criminality was examined among 508 adolescents receiving psychiatric inpatient treatment between 2001 and 2006. Family structure…
CoNVaQ: a web tool for copy number variation-based association studies.
Larsen, Simon Jonas; do Canto, Luisa Matos; Rogatto, Silvia Regina; Baumbach, Jan
2018-05-18
Copy number variations (CNVs) are large segments of the genome that are duplicated or deleted. Structural variations in the genome have been linked to many complex diseases. Similar to how genome-wide association studies (GWAS) have helped discover single-nucleotide polymorphisms linked to disease phenotypes, the extension of GWAS to CNVs has aided the discovery of structural variants associated with human traits and diseases. We present CoNVaQ, an easy-to-use web-based tool for CNV-based association studies. The web service allows users to upload two sets of CNV segments and search for genomic regions where the occurrence of CNVs is significantly associated with the phenotype. CoNVaQ provides two models: a simple statistical model using Fisher's exact test and a novel query-based model matching regions to user-defined queries. For each region, the method computes a global q-value statistic by repeated permutation of samples among the populations. We demonstrate our platform by using it to analyze a data set of HPV-positive and HPV-negative penile cancer patients. CoNVaQ provides a simple workflow for performing CNV-based association studies. It is made available as a web platform in order to provide a user-friendly workflow for biologists and clinicians to carry out CNV data analysis without installing any software. Through the web interface, users are also able to analyze their results to find overrepresented GO terms and pathways. In addition, our method is also available as a package for the R programming language. CoNVaQ is available at https://convaq.compbio.sdu.dk .
Controversial opinion: evaluation of EGR1 and LAMA2 loci for high myopia in Chinese populations.
Lin, Fang-yu; Huang, Zhu; Lu, Ning; Chen, Wei; Fang, Hui; Han, Wei
2016-03-01
Functional studies have suggested the important role of early growth response 1 (EGR1) and Laminin α2-chain (LAMA2) in human eye development. Genetic studies have reported a significant association of the single nucleotide polymorphism (SNP) in the LAMA2 gene with myopia. This study aimed to evaluate the association of the tagging SNPs (tSNPs) in the EGR1 and LAMA2 genes with high myopia in two independent Han Chinese populations. Four tSNPs (rs11743810 in the EGR1 gene; rs2571575, rs9321170, and rs1889891 in the LAMA2 gene) were selected, according to the HapMap database (http://hapmap.ncbi.nlm.nih.gov), and were genotyped using the ligase detection reaction (LDR) approach for 167 Han Chinese nuclear families with extremely highly myopic offspring (<-10.0 diopters) and an independent group with 485 extremely highly myopic cases (<-10.0 diopters) and 499 controls. Direct sequencing was used to confirm the LDR results in twenty randomly selected subjects. Family-based association analysis was performed using the family-based association test (FBAT) software package (Version 1.5.5). Population-based association analysis was performed using the Chi-square test. The association analysis power was estimated using online software (http://design.cs.ucla.edu). The FBAT demonstrated that all four tSNPs tested did not show association with high myopia (P>0.05). Haplotype analysis of tSNPs in the LAMA2 genes also did not show a significant association (P>0.05). Meanwhile, population-based association analysis also showed no significant association results with high myopia (P>0.05). On the basis of our family- and population-based analyses for the Han Chinese population, we did not find positive association signals of the four SNPs in the LAMA2 and EGR1 genes with high myopia.
Pulay, Attila J; Réthelyi, János M
2016-09-01
Despite moderate heritability estimates the genetics of suicidal behavior remains unclear, genome-wide association and candidate gene studies focusing on single nucleotide associations reported inconsistent findings. Our study explored biologically informed, multimarker candidate gene associations with suicidal behavior in mood disorders. We analyzed the GAIN Whole Genome Association Study of Bipolar Disorder version 3 (n = 999, suicidal n = 358) and the GAIN Major Depression: Stage 1 Genomewide Association in Population-Based Samples (n = 1,753, suicidal n = 245) datasets. Suicidal behavior was defined as severe suicidal ideation or attempt. Candidate genes were selected based on literature search (Geneset1, n = 35), gene expression data of microRNA genes, (Geneset2, n = 68) and their target genes (Geneset3, n = 11,259). Quality control, dosage analyses were carried out with PLINK. Gene-based associations of Geneset1 were analyzed with KGG. Polygenic profile scores of suicidal behavior were computed in the major depression dataset both with PRSice and LDpred and validated in the bipolar disorder data. Several nominally significant gene-based associations were detected, but only DICER1 associated with suicidal behavior in both samples, while only the associations of NTRK2 in the depression sample reached family wise and experiment wise significance. Polygenic profile scores negatively predicted suicidal behavior in the bipolar sample for only Geneset2, with the strongest prediction by PRSice at Pt < 0.03 (Nagelkerke R(2) = 0.01, P < 0.007). Gene-based association results confirmed the potential involvement of the BDNF-NTRK2-CREB pathway in the pathogenesis of suicide and the cross-disorder association of DICER1. Polygenic risk prediction of the selected miRNA genes indicates that the miRNA system may play a mediating role, but with considerable pleiotropy. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.
Influence of genetic variants associated with body mass index on eating behavior in childhood
Monnereau, Claire; Jansen, Pauline W; Tiemeier, Henning; Jaddoe, Vincent WV; Felix, Janine F
2017-01-01
Objective Childhood eating behaviors are associated with body mass index (BMI). Recent genome-wide association studies have identified many single nucleotide polymorphisms (SNPs) associated with adult and childhood BMI. We hypothesized that these SNPs also influence eating behavior. Methods In a population-based prospective cohort study among 3,179 children (mean age (standard deviation): 4.0 (0.1) years), we tested two weighted genetic risk scores, based on 15 childhood and 97 adult BMI SNPs, and ten individual appetite and/or satiety related SNPs for association with food fussiness, food responsiveness, enjoyment of food, satiety responsiveness, slowness in eating. Results The 15 SNP-based childhood BMI genetic risk score was not associated with the eating behavior subscales. The 97 SNP-based adult BMI genetic risk score was nominally associated with satiety responsiveness (β: -0.007 standard deviation, 95% confidence interval (CI) -0.013, 0.000). Of the ten individual SNPs, rs11030104 in BDNF and rs10733682 in LMX1B were nominally associated with satiety responsiveness (β: -0.057 standard deviation, 95% CI -0.112, -0.002). Conclusion Our findings do not strongly support the hypothesis that BMI associated SNPs also influence eating behavior at this age. A potential role for BMI SNPs in satiety responsiveness during childhood was observed, however, no associations with the other eating behavior subscales. PMID:28245097
efficient association study design via power-optimized tag SNP selection
HAN, BUHM; KANG, HYUN MIN; SEO, MYEONG SEONG; ZAITLEN, NOAH; ESKIN, ELEAZAR
2008-01-01
Discovering statistical correlation between causal genetic variation and clinical traits through association studies is an important method for identifying the genetic basis of human diseases. Since fully resequencing a cohort is prohibitively costly, genetic association studies take advantage of local correlation structure (or linkage disequilibrium) between single nucleotide polymorphisms (SNPs) by selecting a subset of SNPs to be genotyped (tag SNPs). While many current association studies are performed using commercially available high-throughput genotyping products that define a set of tag SNPs, choosing tag SNPs remains an important problem for both custom follow-up studies as well as designing the high-throughput genotyping products themselves. The most widely used tag SNP selection method optimizes over the correlation between SNPs (r2). However, tag SNPs chosen based on an r2 criterion do not necessarily maximize the statistical power of an association study. We propose a study design framework that chooses SNPs to maximize power and efficiently measures the power through empirical simulation. Empirical results based on the HapMap data show that our method gains considerable power over a widely used r2-based method, or equivalently reduces the number of tag SNPs required to attain the desired power of a study. Our power-optimized 100k whole genome tag set provides equivalent power to the Affymetrix 500k chip for the CEU population. For the design of custom follow-up studies, our method provides up to twice the power increase using the same number of tag SNPs as r2-based methods. Our method is publicly available via web server at http://design.cs.ucla.edu. PMID:18702637
Sasazuki, Shizuka; Tamakoshi, Akiko; Matsuo, Keitaro; Ito, Hidemi; Wakai, Kenji; Nagata, Chisato; Mizoue, Tetsuya; Tanaka, Keitaro; Tsuji, Ichiro; Inoue, Manami; Tsugane, Shoichiro
2012-04-01
Numerous in vitro and animal studies have shown that green tea has a protective effect against cancer. However, results from epidemiologic studies are conflicting. We evaluated the association between green tea consumption and risk for gastric cancer risk among the Japanese population based on a systematic review of epidemiologic evidence. Original data were obtained from MEDLINE searches using PubMed or from searches of the Ichushi database, complemented with manual searches. Evaluation of associations was based on the strength of evidence and the magnitude of association, together with biologic plausibility. Eight cohort studies and three case-control studies were identified. Overall, we found no preventive effect on gastric cancer for green tea intake in cohort studies. However, a small, consistent risk reduction limited to women was observed, which was confirmed by pooling data of six cohort studies (hazard ratio = 0.79, 95% confidence interval 0.65-0.96 with ≥5 cups/day of green tea intake). Case-control studies consistently showed a weak inverse association between green tea intake and gastric cancer risk. We conclude that green tea possibly decreases the risk of gastric cancer in women. However, epidemiologic evidence is still insufficient to demonstrate any association in men.
Physical inactivity and obesity: relation to asthma and chronic obstructive pulmonary disease?
ten Hacken, Nick H T
2009-12-01
Physical inactivity and obesity are modifiable risk factors for many chronic diseases, including cardiovascular disease, diabetes mellitus, osteoporosis, osteoarthritis, and depression. Both physical inactivity and obesity are associated with low-grade systemic inflammation that may contribute to the inflammatory processes present in many chronic diseases. In asthma, almost no studies are available in which physical inactivity has been studied using performance-based instruments. In contrast, the association between obesity and a higher prevalence of asthma has often been suggested in a large number of studies. In chronic obstructive pulmonary disease (COPD) physical inactivity has been demonstrated in a few studies that used performance-based instruments; this was associated with the higher COPD Global Initiative on Obstructive Lung Disease (GOLD) stages and a higher degree of systemic inflammation, independent of body mass index. In contrast to physical inactivity, obesity in COPD is associated with the lower GOLD stages. Additionally, obesity is associated with the chronic obstructive phenotype and features of the metabolic syndrome. To elucidate the independent relation of physical inactivity and obesity with systemic inflammation, performance-based studies of physical inactivity in asthma and COPD are highly needed.
2007-10-01
AD_________________ Award Number: DAMD17-03-1-0774 TITLE: CHEK2 *1100delC Variant and BRCA1/2...NUMBER CHEK2 *1100delC Variant and BRCA1/2-Negative Familial Breast Cancer - A Family- Based Genetic Association Study 5b. GRANT NUMBER DAMD17...association between the CHEK2 *1100delC gene variant and breast cancer among BRCA1/2-negative families. Vital to DNA replication and normal growth of breast
Gonzalez, Suzanne; Xu, Chun; Ramirez, Mercedes; Zavala, Juan; Armas, Regina; Contreras, Salvador A; Contreras, Javier; Dassori, Albana; Leach, Robin J; Flores, Deborah; Jerez, Alvaro; Raventós, Henriette; Ontiveros, Alfonso; Nicolini, Humberto; Escamilla, Michael
2013-01-01
Objectives Through recent genome-wide association studies (GWAS), several groups have reported significant association between variants in the alpha 1C subunit of the L-type voltage-gated calcium channel (CACNA1C) and bipolar disorder (BP) in European and European-American cohorts. We performed a family-based association study to determine whether CACNA1C is associated with BP in the Latino population. Methods This study consisted of 913 individuals from 215 Latino pedigrees recruited from the United States, Mexico, Guatemala, and Costa Rica. The Illumina GoldenGate Genotyping Assay was used to genotype 58 single-nucleotide polymorphisms (SNPs) that spanned a 602.9 kb region encompassing the CACNA1C gene including two SNPs (rs7297582 and rs1006737) previously shown to associate with BP. Individual SNP and haplotype association analyses were performed using Family-Based Association Test (version 2.0.3) and Haploview (version 4.2) software. Results An eight-locus haplotype block that included these two markers showed significant association with BP (global marker permuted p = 0.0018) in the Latino population. For individual SNPs, this sample had insufficient power (10%) to detect associations with SNPs with minor effect (odds ratio = 1.15). Conclusions Although we were not able to replicate findings of association between individual CACNA1C SNPs rs7297582 and rs1006737 and BP, we were able to replicate the GWAS signal reported for CACNA1C through a haplotype analysis that encompassed these previously reported significant SNPs. These results provide additional evidence that CACNA1C is associated with BP and provides the first evidence that variations in this gene might play a role in the pathogenesis of this disorder in the Latino population. PMID:23437964
Fish intake and risk of heart failure: A meta-analysis of five prospective cohort studies
HOU, LI-NA; LI, FEI; ZHOU, YOU; NIE, SHI-HUAI; SU, LIANG; CHEN, PING-AN; TAN, WAN-LONG; XU, DING-LI
2012-01-01
The findings on the association between fish intake and the risk of heart failure (HF) have been inconsistent. The purpose of this study was to clarify this potential association. We searched for relevant studies in the PubMed database through January 2012 and manually reviewed references. Five independent prospective cohort studies involving 5,273 cases and 144,917 participants were included. The summary relative risk estimates (SRRE) based on the highest compared with the lowest category of fish consumption were estimated by variance-based meta-analysis. In addition, we performed sensitivity and dose-response analyses to examine the association. Overall, an absence of an association between fish intake and HF was observed (SRRE=1.00; 95% CI, 0.81–1.24). However, fried fish intake positively associated with HF (SRRE=1.40; 95% CI, 1.22–1.61). In addition, dose-response analysis of fried fish suggested that each increment of six fried fish per month corresponded to a 37% increase of HF rate (RR=1.37; 95% CI, 1.20–1.56). In conclusion, our findings suggest that there is no significant association between fish intake and risk of HF, with the exception of a possible positive correlation with individuals comsuming fried fish, based on a limited number of studies. Future studies are required to confirm these findings. PMID:23181122
An entropy-based statistic for genomewide association studies.
Zhao, Jinying; Boerwinkle, Eric; Xiong, Momiao
2005-07-01
Efficient genotyping methods and the availability of a large collection of single-nucleotide polymorphisms provide valuable tools for genetic studies of human disease. The standard chi2 statistic for case-control studies, which uses a linear function of allele frequencies, has limited power when the number of marker loci is large. We introduce a novel test statistic for genetic association studies that uses Shannon entropy and a nonlinear function of allele frequencies to amplify the differences in allele and haplotype frequencies to maintain statistical power with large numbers of marker loci. We investigate the relationship between the entropy-based test statistic and the standard chi2 statistic and show that, in most cases, the power of the entropy-based statistic is greater than that of the standard chi2 statistic. The distribution of the entropy-based statistic and the type I error rates are validated using simulation studies. Finally, we apply the new entropy-based test statistic to two real data sets, one for the COMT gene and schizophrenia and one for the MMP-2 gene and esophageal carcinoma, to evaluate the performance of the new method for genetic association studies. The results show that the entropy-based statistic obtained smaller P values than did the standard chi2 statistic.
Selenium intake and metabolic syndrome: A systematic review.
Retondario, Anabelle; Fernandes, Ricardo; Rockenbach, Gabriele; Alves, Mariane de Almeida; Bricarello, Liliana Paula; Trindade, Erasmo Benicio Santos de Moraes; Vasconcelos, Francisco de Assis Guedes de
2018-03-02
Metabolic syndrome is a multi-causal disease. Its treatment includes lifestyle changes with a focus on weight loss. This systematic review assessed the association between Selenium intake and metabolic syndrome. Data were collected mainly from four databases: PubMed, CENTRAL (Cochrane), Scopus and Web of Knowledge. Keywords related to metabolic syndrome, selenium, as well as metabolic syndrome features were searched. This review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Statement. A systematic review protocol was registered at PROSPERO (n. 42016046321). Two reviewers independently screened 2957 abstracts. Six studies were included to perform data extraction with standardized spreadsheets. The risk of bias was assessed by using specific tools according to the design of the relevant studies. An assessment was carried out based on the appropriateness of the study reports accordingly to STROBE and the CONSORT-based checklist for each study design. Three studies found no association between Selenium intake and metabolic syndrome; two of them found an inverse association; and one study found a direct association between Selenium intake and metabolic syndrome. One study also showed an inverse association between Selenium intake and the prevalence of high waist circumference, high diastolic blood pressure, and hyperglycaemia in women. Overall, based on the argumentation and results of this study, it is possible to conclude that Selenium intake and metabolic syndrome are not clearly associated in adults and elderly. Copyright © 2018 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.
Il’yasova, Dora; McCarthy, Bridget; Marcello, Jennifer; Schildkraut, Joellen M.; Moorman, Patricia G.; Krishnamachari, Bhuma; Ali-Osman, Francis; Bigner, Darell D.; Davis, Faith
2009-01-01
Because glioma etiology is largely unknown, the inverse association of glioma risk with atopic conditions is promising and deserves close scrutiny. We examined the association between a history of allergies, asthma, and eczema and glioma risk using sibling, friend, and clinic-based controls. This analysis included 388 incident glioma cases and 80 sibling, 191 friend, and 177 clinic-based controls. Each subject’s medical history was assessed via a web-based or telephone survey. Odds ratios (ORs) and their 95% confidence intervals for the associations with allergies, asthma, eczema, and the overall number of these conditions were calculated from conditional (for sibling and friend controls) and unconditional (for clinic-based controls) logistic models. Allergies were consistently inversely associated with the glioma: ORs were 0.53 (95% CI, 0.15–1.84), 0.54 (95% CI, 0.28–1.07), and 0.34 (95% CI, 0.23–0.50) with sibling, friend, and clinic-based controls, respectively. Asthma showed an inverse association only in the comparison with sibling controls (OR=0.43; 95% CI, 0.19–1.00). Eczema showed an inverse association only in the comparison with friend controls (OR=0.42; 95% CI, 0.15–1.18). The overall number of these conditions (ordinal score 0, 1, 2, 3) was inversely associated with glioma: The risk decreased 31–45% with each addition of an atopic condition. These estimates were the most stable when different control groups were considered. Comparing the prevalence of these conditions in the three control groups with published data, we note that clinic-based controls generally better approximate the prevalence data for population-based groups. These controls appear to present a reasonable choice for clinic-centered case-control studies. PMID:19336556
Kong, Il Gyu; Lee, Hyo-Jeong; Kim, So Young; Sim, Songyong; Choi, Hyo Geun
2015-11-01
Low physical activity, long leisure sitting time, and short sleep time are risk factors for obesity, but the association with study sitting time is unknown. The objective of this study was to evaluate the association between these factors and obesity.We analyzed the association between physical activity, study sitting time, leisure sitting time, and sleep time and subject weight (underweight, healthy weight, overweight, and obese), using data from a large population-based survey, the 2013 Korea Youth Risk Behavior Web-based Survey. Data from 53,769 participants were analyzed using multinomial logistic regression analyses with complex sampling. Age, sex, region of residence, economic level, smoking, stress level, physical activity, sitting time for study, sitting time for leisure, and sleep time were adjusted as the confounders.Low physical activity (adjusted odds ratios [AORs] = 1.03, 1.12) and long leisure sitting time (AORs = 1.15, 1.32) were positively associated with overweight and obese. Low physical activity (AOR = 1.33) and long leisure sitting time (AOR = 1.12) were also associated with underweight. Study sitting time was negatively associated with underweight (AOR = 0.86) but was unrelated to overweight (AOR = 0.97, 95% confidence interval [CI] = 0.91-1.03) and obese (AOR = 0.94, 95% CI = 0.84-1.04). Sleep time (<6 hours; ≥6 hours, <7 hours; ≥7 hours, <8 hours) was adversely associated with underweight (AORs = 0.67, 0.79, and 0.88) but positively associated with overweight (AORs = 1.19, 1.17, and 1.08) and obese (AORs = 1.33, 1.36, and 1.30) in a dose-response relationship.In adolescents, increasing physical activity, decreasing leisure sitting time, and obtaining sufficient sleep would be beneficial in maintaining a healthy weight. However, study sitting time was not associated with overweight or obese.
John, Majnu; Lencz, Todd; Malhotra, Anil K; Correll, Christoph U; Zhang, Jian-Ping
2018-06-01
Meta-analysis of genetic association studies is being increasingly used to assess phenotypic differences between genotype groups. When the underlying genetic model is assumed to be dominant or recessive, assessing the phenotype differences based on summary statistics, reported for individual studies in a meta-analysis, is a valid strategy. However, when the genetic model is additive, a similar strategy based on summary statistics will lead to biased results. This fact about the additive model is one of the things that we establish in this paper, using simulations. The main goal of this paper is to present an alternate strategy for the additive model based on simulating data for the individual studies. We show that the alternate strategy is far superior to the strategy based on summary statistics.
Ryan, Joanne; Artero, Sylvaine; Carrière, Isabelle; Maller, Jerome J; Meslin, Chantal; Ritchie, Karen; Ancelin, Marie-Laure
2016-01-01
A number of genome-wide association studies (GWAS) have investigated risk factors for major depressive disorder (MDD), however there has been little attempt to replicate these findings in population-based studies of depressive symptoms. Variants within three genes, BICC1, PCLO and GRM7 were selected for replication in our study based on the following criteria: they were identified in a prior MDD GWAS study; a subsequent study found evidence that they influenced depression risk; and there is a solid biological basis for a role in depression. We firstly investigated whether these variants were associated with depressive symptoms in our population-based cohort of 929 elderly (238 with clinical depressive symptoms and 691 controls), and secondly to investigate associations with structural brain alterations. A number of nominally significant associations were identified, but none reached Bonferroni-corrected significance levels. Common SNPs in BICC1 and PCLO were associated with a 50% and 30% decreased risk of depression, respectively. PCLO rs2522833 was also associated with the volume of grey matter (p=1.6×10(-3)), and to a lesser extent with hippocampal volume and white matter lesions. Among depressed individuals rs9870680 (GRM7) was associated with the volume of grey and white matter (p=10(-4) and 8.3×10(-3), respectively). Our results provide some support for the involvement of BICC1 and PCLO in late-life depressive disorders and preliminary evidence that these genetic variants may also influence brain structural volumes. However effect sizes remain modest and associations did not reach corrected significance levels. Further large imaging studies are needed to confirm our findings. Copyright © 2015 Elsevier B.V. and ECNP. All rights reserved.
Detecting a Weak Association by Testing its Multiple Perturbations: a Data Mining Approach
NASA Astrophysics Data System (ADS)
Lo, Min-Tzu; Lee, Wen-Chung
2014-05-01
Many risk factors/interventions in epidemiologic/biomedical studies are of minuscule effects. To detect such weak associations, one needs a study with a very large sample size (the number of subjects, n). The n of a study can be increased but unfortunately only to an extent. Here, we propose a novel method which hinges on increasing sample size in a different direction-the total number of variables (p). We construct a p-based `multiple perturbation test', and conduct power calculations and computer simulations to show that it can achieve a very high power to detect weak associations when p can be made very large. As a demonstration, we apply the method to analyze a genome-wide association study on age-related macular degeneration and identify two novel genetic variants that are significantly associated with the disease. The p-based method may set a stage for a new paradigm of statistical tests.
Böker, J; Völzke, H; Nauck, M; Hannemann, A; Friedrich, N
2018-03-01
Growth hormone (GH) and its main mediator, insulin-like growth factor-I (IGF-I), play a significant role in bone metabolism. The relations between IGF-I and bone mineral density (BMD) or osteoporosis have been assessed in previous studies but whether the associations are sex-specific remains uncertain. Moreover, only a few studies examined bone quality assessed by quantitative ultrasound (QUS). We aimed to investigate these associations in the general population of north-east Germany. Data from 1759 men and 1784 women who participated in the baseline examination of the Study of Health in Pomerania (SHIP)-Trend were used. IGF-I and IGF-binding protein-3 (IGFBP-3) concentrations were measured on the IDS-iSYS multidiscipline automated analyser (Immunodiagnostic Systems Limited). QUS measurements were performed at the heel (Achilles InSight, GE Healthcare). Sex-specific linear and multinomial logistic regression models adjusted for potential confounders were calculated. Linear regression analyses revealed significant positive associations between IGF-I and IGF-I/IGFBP-3 ratio, a marker for free IGF-I, with all QUS parameters in men. Among women, we found an inverse association between IGF-I and the QUS-based fracture risk but no association with any other QUS parameter. There was no association between IGFBP-3 and the QUS-based fracture risk. Our data suggest an important role of IGF-I on bone quality in men. The observed association of IGF-I with the QUS-based stiffness index and QUS-based fracture risk in this study might animate clinicians to refer patients with low IGF-I levels, particularly men, to a further evaluation of risk factors for osteoporosis and a detailed examination of the skeletal system. © 2018 John Wiley & Sons Ltd.
Birth order and risk of non-hodgkin lymphoma--true association or bias?
Grulich, Andrew E; Vajdic, Claire M; Falster, Michael O; Kane, Eleanor; Smedby, Karin Ekstrom; Bracci, Paige M; de Sanjose, Silvia; Becker, Nikolaus; Turner, Jenny; Martinez-Maza, Otoniel; Melbye, Mads; Engels, Eric A; Vineis, Paolo; Costantini, Adele Seniori; Holly, Elizabeth A; Spinelli, John J; La Vecchia, Carlo; Zheng, Tongzhang; Chiu, Brian C H; Franceschi, Silvia; Cocco, Pierluigi; Maynadié, Marc; Foretova, Lenka; Staines, Anthony; Brennan, Paul; Davis, Scott; Severson, Richard K; Cerhan, James R; Breen, Elizabeth C; Birmann, Brenda; Cozen, Wendy
2010-09-15
There is inconsistent evidence that increasing birth order may be associated with risk of non-Hodgkin lymphoma (NHL). The authors examined the association between birth order and related variables and NHL risk in a pooled analysis (1983-2005) of 13,535 cases and 16,427 controls from 18 case-control studies within the International Lymphoma Epidemiology Consortium (InterLymph). Overall, the authors found no significant association between increasing birth order and risk of NHL (P-trend = 0.082) and significant heterogeneity. However, a significant association was present for a number of B- and T-cell NHL subtypes. There was considerable variation in the study-specific risks which was partly explained by study design and participant characteristics. In particular, a significant positive association was present in population-based studies, which had lower response rates in cases and controls, but not in hospital-based studies. A significant positive association was present in higher-socioeconomic-status (SES) participants only. Results were very similar for the related variable of sibship size. The known correlation of high birth order with low SES suggests that selection bias related to SES may be responsible for the association between birth order and NHL.
Jiang, Jiyang; Thalamuthu, Anbupalam; Ho, Jennifer E.; Mahajan, Anubha; Ek, Weronica E.; Brown, David A.; Breit, Samuel N.; Wang, Thomas J.; Gyllensten, Ulf; Chen, Ming-Huei; Enroth, Stefan; Januzzi, James L.; Lind, Lars; Armstrong, Nicola J.; Kwok, John B.; Schofield, Peter R.; Wen, Wei; Trollor, Julian N.; Johansson, Åsa; Morris, Andrew P.; Vasan, Ramachandran S.; Sachdev, Perminder S.; Mather, Karen A.
2018-01-01
Blood levels of growth differentiation factor-15 (GDF-15), also known as macrophage inhibitory cytokine-1 (MIC-1), have been associated with various pathological processes and diseases, including cardiovascular disease and cancer. Prior studies suggest genetic factors play a role in regulating blood MIC-1/GDF-15 concentration. In the current study, we conducted the largest genome-wide association study (GWAS) to date using a sample of ∼5,400 community-based Caucasian participants, to determine the genetic variants associated with MIC-1/GDF-15 blood concentration. Conditional and joint (COJO), gene-based association, and gene-set enrichment analyses were also carried out to identify novel loci, genes, and pathways. Consistent with prior results, a locus on chromosome 19, which includes nine single nucleotide polymorphisms (SNPs) (top SNP, rs888663, p = 1.690 × 10-35), was significantly associated with blood MIC-1/GDF-15 concentration, and explained 21.47% of its variance. COJO analysis showed evidence for two independent signals within this locus. Gene-based analysis confirmed the chromosome 19 locus association and in addition, a putative locus on chromosome 1. Gene-set enrichment analyses showed that the“COPI-mediated anterograde transport” gene-set was associated with MIC-1/GDF15 blood concentration with marginal significance after FDR correction (p = 0.067). In conclusion, a locus on chromosome 19 was associated with MIC-1/GDF-15 blood concentration with genome-wide significance, with evidence for a new locus (chromosome 1). Future studies using independent cohorts are needed to confirm the observed associations especially for the chromosomes 1 locus, and to further investigate and identify the causal SNPs that contribute to MIC-1/GDF-15 levels. PMID:29628937
Jiang, Jiyang; Thalamuthu, Anbupalam; Ho, Jennifer E; Mahajan, Anubha; Ek, Weronica E; Brown, David A; Breit, Samuel N; Wang, Thomas J; Gyllensten, Ulf; Chen, Ming-Huei; Enroth, Stefan; Januzzi, James L; Lind, Lars; Armstrong, Nicola J; Kwok, John B; Schofield, Peter R; Wen, Wei; Trollor, Julian N; Johansson, Åsa; Morris, Andrew P; Vasan, Ramachandran S; Sachdev, Perminder S; Mather, Karen A
2018-01-01
Blood levels of growth differentiation factor-15 (GDF-15), also known as macrophage inhibitory cytokine-1 (MIC-1), have been associated with various pathological processes and diseases, including cardiovascular disease and cancer. Prior studies suggest genetic factors play a role in regulating blood MIC-1/GDF-15 concentration. In the current study, we conducted the largest genome-wide association study (GWAS) to date using a sample of ∼5,400 community-based Caucasian participants, to determine the genetic variants associated with MIC-1/GDF-15 blood concentration. Conditional and joint (COJO), gene-based association, and gene-set enrichment analyses were also carried out to identify novel loci, genes, and pathways. Consistent with prior results, a locus on chromosome 19, which includes nine single nucleotide polymorphisms (SNPs) (top SNP, rs888663, p = 1.690 × 10 -35 ), was significantly associated with blood MIC-1/GDF-15 concentration, and explained 21.47% of its variance. COJO analysis showed evidence for two independent signals within this locus. Gene-based analysis confirmed the chromosome 19 locus association and in addition, a putative locus on chromosome 1. Gene-set enrichment analyses showed that the"COPI-mediated anterograde transport" gene-set was associated with MIC-1/GDF15 blood concentration with marginal significance after FDR correction ( p = 0.067). In conclusion, a locus on chromosome 19 was associated with MIC-1/GDF-15 blood concentration with genome-wide significance, with evidence for a new locus (chromosome 1). Future studies using independent cohorts are needed to confirm the observed associations especially for the chromosomes 1 locus, and to further investigate and identify the causal SNPs that contribute to MIC-1/GDF-15 levels.
Adolescent socio-economic and school-based social status, health and well-being.
Sweeting, Helen; Hunt, Kate
2014-11-01
Studies of adults and adolescents suggest subjective socio-economic status (SES) is associated with health/well-being even after adjustment for objective SES. In adolescence, objective SES may have weaker relationships with health/well-being than at other life stages; school-based social status may be of greater relevance. We investigated the associations which objective SES (residential deprivation and family affluence), subjective SES and three school-based subjective social status dimensions ("SSS-peer", "SSS-scholastic" and "SSS-sports") had with physical symptoms, psychological distress and anger among 2503 Scottish 13-15 year-olds. Associations between objective SES and health/well-being were weak and inconsistent. Lower subjective SES was associated with increased physical symptoms and psychological distress, lower SSS-peer with increased psychological distress but reduced anger, lower SSS-scholastic with increased physical symptoms, psychological distress and anger, and lower SSS-sports with increased physical symptoms and psychological distress. Associations did not differ by gender. Objective and subjective SES had weaker associations with health/well-being than did school-based SSS dimensions. These findings underline the importance of school-based SSS in adolescence, and the need for future studies to include a range of school-based SSS dimensions and several health/well-being measures. They also highlight the need for a focus on school-based social status among those working to promote adolescent health/well-being. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.
ERIC Educational Resources Information Center
Mattila, Marja-Leena; Hurtig, Tuula; Haapsamo, Helena; Jussila, Katja; Kuusikko-Gauffin, Sanna; Kielinen, Marko; Linna, Sirkka-Liisa; Ebeling, Hanna; Bloigu, Risto; Joskitt, Leena; Pauls, David L.; Moilanen, Irma
2010-01-01
The present study identifies the prevalence and types of comorbid psychiatric disorders associated with Asperger syndrome (AS)/high-functioning autism (HFA) in a combined community- and clinic-based sample of fifty 9- to 16-year-old subjects using the Schedule for Affective Disorders and Schizophrenia for School-Age Children, Present and Lifetime…
ERIC Educational Resources Information Center
Magiera, Marta T.; Zawojewski, Judith S.
2011-01-01
This exploratory study focused on characterizing problem-solving situations associated with spontaneous metacognitive activity. The results came from connected case studies of a group of 3 purposefully selected 9th-grade students working collaboratively on a series of 5 modeling problems. Students' descriptions of their own thinking during…
Metal exposure influences the melanin and carotenoid-based colorations in great tits.
Giraudeau, M; Mateos-Gonzalez, F; Cotín, J; Pagani-Nuñez, E; Torné-Noguera, A; Senar, J C
2015-11-01
Metals are naturally found in the environment but are also emitted through anthropogenic activities, raising some concerns about the potential deleterious effects of these elements on wildlife. The potential effects of metals on bird coloration have been the focus of several recent studies since animal colored-signals often reflect the physiology of their bearers and are thus used by animals to assess the quality of another individual as a mate or competitor. These studies have shown that the melanin pigmentation seems to be positively associated and the carotenoid-based coloration negatively associated with metal exposure in wild birds. Although these studies have been very useful to show the associations between metal exposure and coloration, only few of them have actually quantified the levels of metal exposure at the individual level; always focusing on one or two of them. Here, we measured the concentrations of eight metals in great tits' feathers and then assessed how these levels of metals were associated with the carotenoid and melanin-based colorations. We found that the melanin pigmentation was positively associated with the copper concentration and negatively correlated with the chromium concentration in feathers. In addition, we have shown that the carotenoid-based coloration was negatively associated with the feather's mercury concentration. This study is the first one to identify some metals that might affect positively and negatively the deposition of melanin and carotenoid into the plumage of wild birds. Copyright © 2015 Elsevier B.V. All rights reserved.
Linking Associations of Rare Low-Abundance Species to Their Environments by Association Networks
Karpinets, Tatiana V.; Gopalakrishnan, Vancheswaran; Wargo, Jennifer; ...
2018-03-07
Studies of microbial communities by targeted sequencing of rRNA genes lead to recovering numerous rare low-abundance taxa with unknown biological roles. We propose to study associations of such rare organisms with their environments by a computational framework based on transformation of the data into qualitative variables. Namely, we analyze the sparse table of putative species or OTUs (operational taxonomic units) and samples generated in such studies, also known as an OTU table, by collecting statistics on co-occurrences of the species and on shared species richness across samples. Based on the statistics we built two association networks, of the rare putativemore » species and of the samples respectively, using a known computational technique, Association networks (Anets) developed for analysis of qualitative data. Clusters of samples and clusters of OTUs are then integrated and combined with metadata of the study to produce a map of associated putative species in their environments. We tested and validated the framework on two types of microbiomes, of human body sites and that of the Populus tree root systems. We show that in both studies the associations of OTUs can separate samples according to environmental or physiological characteristics of the studied systems.« less
Linking Associations of Rare Low-Abundance Species to Their Environments by Association Networks
DOE Office of Scientific and Technical Information (OSTI.GOV)
Karpinets, Tatiana V.; Gopalakrishnan, Vancheswaran; Wargo, Jennifer
Studies of microbial communities by targeted sequencing of rRNA genes lead to recovering numerous rare low-abundance taxa with unknown biological roles. We propose to study associations of such rare organisms with their environments by a computational framework based on transformation of the data into qualitative variables. Namely, we analyze the sparse table of putative species or OTUs (operational taxonomic units) and samples generated in such studies, also known as an OTU table, by collecting statistics on co-occurrences of the species and on shared species richness across samples. Based on the statistics we built two association networks, of the rare putativemore » species and of the samples respectively, using a known computational technique, Association networks (Anets) developed for analysis of qualitative data. Clusters of samples and clusters of OTUs are then integrated and combined with metadata of the study to produce a map of associated putative species in their environments. We tested and validated the framework on two types of microbiomes, of human body sites and that of the Populus tree root systems. We show that in both studies the associations of OTUs can separate samples according to environmental or physiological characteristics of the studied systems.« less
Jia, Wei-Hua; Pan, Qing-Hua; Qin, Hai-De; Xu, Ya-Fei; Shen, Guo-Ping; Chen, Lina; Chen, Li-Zhen; Feng, Qi-Sheng; Hong, Ming-Huang; Zeng, Yi-Xin; Shugart, Yin Yao
2009-01-01
Nasopharyngeal carcinoma (NPC) is rare in most parts of the world but is more prevalent in Southern China, especially in Guangdong. The cytochrome P450 2E1 (CYP2E1) has been recognized as one of the critically important enzymes involved in oxidizing carcinogens and is probably to be associated with NPC carcinogenesis. To systematically investigate the association between genetic variants in CYP2E1 and NPC risk in Cantonese, two independent studies, a family-based association study and a case–control study, were conducted using the haplotype-tagging single-nucleotide polymorphism approach. A total of 2499 individuals from 546 nuclear families were initially genotyped for the family-based association study. Single-nucleotide polymorphisms (SNPs) rs9418990, rs915908, rs8192780, rs1536826, rs3827688 and one haplotype h2 (CGTGTTAA) were revealed to be significantly associated with the NPC phenotype (P = 0.045–0.003 and P = 0.003, respectively). To follow up the initial study, a case–control study including 755 cases and 755 controls was conducted. Similar results were observed in the case–control study in individuals <46 years of age and had a history of cigarette smoking, with odds ratios (ORs) of specific genotypes ranging from 1.88 to 2.99 corresponding to SNP rs9418990, rs3813865, rs915906, rs2249695, rs8192780, rs1536826, rs3827688 and of haplotypes h2 with OR = 1.65 (P = 0.026), h5 (CCCGTTAA) with OR = 2.58 (P = 0.007). The values of false-positive report probability were <0.015 for six SNPs, suggesting that the reported associations are less probably to be false. This study provides robust evidence for associations between genetic variants of CYP2E1 and NPC risk. PMID:19805575
The Low-Mass Stellar Content of the Scorpius-Centaurus OB Association
NASA Technical Reports Server (NTRS)
Yorke, H.; Kunkel, M.; Brander, W.; Zinnecker, H.; Neuhauser, R.; Schmitt, J.; Mayor, M.; Udry, S.
2000-01-01
Based on ROSAT observations and data obtained with ground-based telescopes, we have carried out an extensive study of the low-mass pre-main-sequence population in Upper Scorpius, the youngest subgroup of the Scorpius-Centaurus OB association.
Zuelke, Andrea E; Luck, Tobias; Schroeter, Matthias L; Witte, A Veronica; Hinz, Andreas; Engel, Christoph; Enzenbach, Cornelia; Zachariae, Silke; Loeffler, Markus; Thiery, Joachim; Villringer, Arno; Riedel-Heller, Steffi G
2018-08-01
Unemployment is a risk factor for impaired mental health. Based on a large population-based sample, in this study we therefore sought to provide detailed information on the association between unemployment and depression including information on (i) differences between men and women, (ii) differences between different types of unemployment, and (iii) on the impact of material and social resources on the association. We studied 4,842 participants (18-65 years) of the population-based LIFE-Adult-Study. Depression was assessed using the Center for Epidemiological Studies Depression Scale. Employment status was divided into three groups: being employed, being unemployed receiving entitlement-based benefits, being unemployed receiving means-tested benefits. Multivariate logistic regression models were applied to assess the association between employment status and depression. Statistically significantly increased depression risk was solely found for unemployed persons receiving means-tested benefits. Adjusting for differences in sociodemographic factors, net personal income and risk of social isolation, comparable associations of being unemployed and receiving means-tested benefits with elevated depression risk were found for men (Odds Ratio/OR = 2.17, 95%-CI = 1.03-4.55) and women (OR = 1.98, 95%-CI:1.22-3.20). No conclusions regarding causality can be drawn due to the cross-sectional study design. It was not possible to assess length of unemployment spells. Unemployed persons receiving means-tested benefits in Germany constitute a risk group for depression that needs specific attention in the health care and social security system. The negative impact of unemployment on depression risk cannot be explained solely by differences in material and social resources. Contrasting earlier results, women are equally affected as men. Copyright © 2018 Elsevier B.V. All rights reserved.
Tobacco smoking and hand eczema - is there an association?
Sørensen, Jennifer A; Clemmensen, Kim K; Nixon, Rosemary L; Diepgen, Thomas L; Agner, Tove
2015-12-01
Numerous risk factors have been suggested for hand eczema. This systematic review evaluates the association between tobacco smoking and hand eczema. To review the literature systematically on the association between smoking and hand eczema. The PubMed and EMBASE databases were searched up to 27 January 2015 for articles on the association between tobacco smoking and hand eczema, including human studies in English and German only. Experimental studies, studies on tobacco allergy, case reports, reviews and studies on second-hand smoking were excluded. Twenty articles were included. Among studies in occupational settings, three of seven found a statistically significant positive association between tobacco smoking and hand eczema prevalence rate, as did four of eight population-based studies. The association was stronger for studies in occupational settings than for population-based studies. No studies reported tobacco to be a clear protective factor for hand eczema. Two of five studies regarding severity found a positive association between smoking and hand eczema severity. Overall, the data indicate that smoking may cause an increased frequency of hand eczema, particularly in high-risk occupations. However, data from studies controlling for other risk factors are conflicting, and few prospective studies are available. Studies controlling for other risk factors are needed, and information regarding the diagnosis of subclasses of hand eczema, as well as severity, may be important. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Physical Activity and Screen-based Activity in Healthy Development of School-aged Children.
Hamřík, Zdeněk; Bobáková, Daniela; Kalman, Michal; Veselská, Zuzana Dankulincová; Klein, Daniel; Gecková, Andrea Madarasová
2015-11-01
Physical and screen-based activity in adolescents plays a crucial role in future health outcomes. Therefore, the aim of the study was to examine the associations of physical activity and screen-based activity with behavioural and psychosocial characteristics of school-aged children. Data on 11, 13 and 15 years old elementary school pupils (N=9,014; mean age=13.59) who participated in the cross-sectional Health Behaviour in School-aged Children 2009/2010 study in the Czech Republic and the Slovak Republic were analyzed. The associations of vigorous physical activity and screen-based activity with substance use, violent behaviour, eating habits and school-related outcomes adjusted for age were explored using logistic regression. Vigorous physical activity was positively associated with some of the health-related behaviours (smoking, breakfast consumption, vegetable and fruit consumption) and school related outcomes (perceived school achievement and school pressure), with gender and country based differences. Screen-based activity was significantly associated with all examined health-related behaviours and school related outcomes with only some country and gender based differences. Vigorous physical activity is positively associated with healthy development of adolescents. Screen-based behaviour shows an inverse relationship with adolescents' healthy development, especially in the group of 11 and 13 years old children. Supporting physical activity conducive environments might lead to a reduction in screen-based behaviour in adolescents and should be highlighted in health-promoting strategies. Copyright© by the National Institute of Public Health, Prague 2015.
Oze, Isao; Matsuo, Keitaro; Wakai, Kenji; Nagata, Chisato; Mizoue, Tetsuya; Tanaka, Keitaro; Tsuji, Ichiro; Sasazuki, Shizuka; Inoue, Manami; Tsugane, Shoichiro
2011-05-01
Although alcohol drinking is considered as an important risk factor for esophageal cancer, the magnitude of the association might be varied among geographic areas. Therefore, we reviewed epidemiologic studies on the association between alcohol drinking and esophageal cancer among the Japanese population. Original data were obtained from MEDLINE, searched using PubMed or from searches of the Ichushi database, complemented with manual searches. Evaluation of associations was based on the strength of evidence ('convincing', 'probable', 'possible' or 'insufficient') and the magnitude of association ('strong', 'moderate', 'weak' or 'no association'), together with biological plausibility as previously evaluated by the International Agency of Research on Cancer. We identified four cohort studies and nine case-control studies. All cohort studies and case-control studies showed strong positive associations between esophageal cancer and alcohol drinking. All cohort studies and six case-control studies showed that alcohol drinking had the dose- or frequency-response relationships with esophageal cancer. In addition, four case-control studies showed that acetaldehyde dehydrogenase Glu504Lys polymorphism had strong effect modification with alcohol drinking. We conclude that there is convincing evidence that alcohol drinking increases the risk of esophageal cancer in the Japanese population.
Marx, Robert A; Kettrey, Heather Hensman
2016-07-01
Gay-straight alliances (GSAs) are school-based organizations for lesbian, gay, bisexual, transgender, and queer (LGBTQ+) youth and their allies that often attempt to improve school climate for sexual and gender minority youth. This meta-analysis evaluates the association between school GSA presence and youth's self-reports of school-based victimization by quantitatively synthesizing 15 primary studies with 62,923 participants. Findings indicate GSA presence is associated with significantly lower levels of youth's self-reports of homophobic victimization, fear for safety, and hearing homophobic remarks, and these results are robust, controlling for a variety of study-level factors. The findings of this meta-analysis provide evidence to support GSAs as a means of protecting LGTBQ+ youth from school-based victimization.
ERIC Educational Resources Information Center
Plourde, Vickie; Boivin, Michel; Forget-Dubois, Nadine; Brendgen, Mara; Vitaro, Frank; Marino, Cecilia; Tremblay, Richard T.; Dionne, Ginette
2015-01-01
Background: The phenotypic and genetic associations between decoding skills and ADHD dimensions have been documented but less is known about the association with reading comprehension. The aim of the study is to document the phenotypic and genetic associations between reading comprehension and ADHD dimensions of inattention and…
Toemen, L; Gishti, O; Vogelezang, S; Gaillard, R; Hofman, A; Franco, O H; Felix, J F; Jaddoe, V W V
2015-07-01
High body mass index is associated with increased C-reactive protein levels in childhood and adulthood. Little is known about the associations of detailed adiposity measures with C-reactive protein levels in childhood. We examined the associations of general and abdominal adiposity measures with C-reactive protein levels at school age. To gain insight into the direction of causality, we used genetic risk scores based on known genetic variants in adults as proxies for child adiposity measures and C-reactive protein levels. Within a population-based cohort study among 4338 children at the median age of 6.2 years, we measured body mass index, fat mass percentage, android/gynoid fat mass ratio and preperitoneal abdominal fat mass. We also measured C-reactive protein blood levels and defined increased levels as ⩾3.0 mg l(-1). Single-nucleotide polymorphisms (SNPs) for the weighted genetic risk scores were extracted from large genome-wide association studies on adult body mass index, waist-hip ratio and C-reactive protein levels. All fat mass measures were associated with increased C-reactive protein levels, even after adjusting for multiple confounders. Fat mass percentage was most strongly associated with increased C-reactive protein levels (odds ratio 1.46 (95% confidence interval 1.30-1.65) per increase standard deviation scores in fat mass percentage). The association was independent of body mass index. The genetic risk score based on adult body mass index SNPs, but not adult waist-hip ratio SNPs, tended to be associated with increased C-reactive protein levels at school age. The genetic risk score based on adult C-reactive protein level SNPs was not associated with adiposity measures at school age. Our results suggest that higher general and abdominal fat mass may lead to increased C-reactive protein levels at school age. Further studies are needed to replicate these results and explore the causality and long-term consequences.
Poorolajal, Jalal; Haghtalab, Tahereh; Farhadi, Mehran; Darvishi, Nahid
2016-09-01
This meta-analysis addressed the association between substance use disorder (SUD) and suicide outcomes based on current evidence. We searched PubMed, Web of Science and Scopus until May 2015. We also searched the reference lists of included studies and Psycinfo website. We included observational (cohort, case-control, cross-sectional) studies addressing the association between SUD and suicide. Our outcomes of interest were suicide ideation, suicide attempt and suicide death. For each outcome, we calculated the odds ratio (OR) or risk ratio (RR) with 95% confidence intervals (CI) based on the random-effects model. We identified a total of 12 413 references and included 43 studies with 870 967 participants. There was a significant association between SUD and suicidal ideation: OR 2.04 (95% CI: 1.59, 2.50; I 2 = 88.8%, 16 studies); suicide attempt OR 2.49 (95% CI: 2.00, 2.98; I 2 = 94.3%, 24 studies) and suicide death OR 1.49 (95% CI: 0.97, 2.00; I 2 = 82.7%, 7 studies). Based on current evidence, there is a strong association between SUD and suicide outcomes. However, evidence based on long-term prospective cohort studies is limited and needs further investigation. Moreover, further evidence is required to assess and compare the association between suicide outcomes and different types of illicit drugs, dose-response relationship and the way they are used. © The Author 2015. Published by Oxford University Press on behalf of Faculty of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.
Zhang, Wei; Xiang, Yong-Bing; Li, Hong-Lan; Yang, Gong; Cai, Hui; Ji, Bu-Tian; Gao, Yu-Tang; Zheng, Wei; Shu, Xiao-Ou
2013-10-01
Although dietary patterns, specific foods, and their constituents have been linked to cancer risk, the role of dietary patterns and specific food groups in liver cancer risk has not been investigated. In the Shanghai Women's Health Study (SWHS) and Shanghai Men's Health Study (SMHS), two cohort studies of 132 837 Chinese women and men, we evaluated the relationship between dietary patterns, food groups, and liver cancer risk. Through in-person interviews, dietary information intake over the preceding year was collected by using a validated food-frequency questionnaire. Cox regression model was used to estimate hazard ratios and 95% confidence intervals with adjustment for potential confounders. During an average follow-up of 10.9 (SWHS) or 5.5 (SMHS) years, 267 incident liver cancer cases were identified after the first 2 years of study enrolment. Three dietary patterns were derived by factor analysis. A vegetable-based dietary pattern was inversely associated with liver cancer; hazard ratios (95% confidence intervals) for the lowest to highest quartiles were: 1.00; 0.98 (0.71-1.35); 0.93 (0.67-1.29); and 0.58 (0.40-0.84); P(trend) = 0.01. The association was stronger among participants with a history of chronic liver disease. Further analyses showed high intakes of celery, mushrooms, allium vegetables, composite vegetables (including asparagus lettuce and garland chrysanthemum), legumes and legume products were associated with reduced liver cancer risk (all P(trend) < 0.05). Fruit- and meat-based dietary patterns were not associated with liver cancer risk. Our study suggests that a vegetable-based dietary pattern is associated with reduced liver cancer risk. © 2013 Japanese Cancer Association.
Kim, BoRin; Park, Sojung; Bishop-Saucier, Jennifer; Amorim, Carrie
2017-01-01
Guided by the Person-Environment Fit perspective, we investigated the extent to which personal and environmental factors influence depression among community-dwelling adults. The data came from the special section about community-based service utilization in the 2012 Health and Retirement Study (N=1,710). Although community-based service was not significantly associated with depression after controlling for covariates, respondents with functional limitations and living alone were less likely to be depressed when using community-based services. This study demonstrates the different associations between community-based services and depression depending on personal needs. It discusses the importance of community-based services for aging-in-place policy, particularly among vulnerable populations.
Chaste, Pauline; Klei, Lambertus; Sanders, Stephan J; Hus, Vanessa; Murtha, Michael T; Lowe, Jennifer K; Willsey, A Jeremy; Moreno-De-Luca, Daniel; Yu, Timothy W; Fombonne, Eric; Geschwind, Daniel; Grice, Dorothy E; Ledbetter, David H; Mane, Shrikant M; Martin, Donna M; Morrow, Eric M; Walsh, Christopher A; Sutcliffe, James S; Lese Martin, Christa; Beaudet, Arthur L; Lord, Catherine; State, Matthew W; Cook, Edwin H; Devlin, Bernie
2015-05-01
Phenotypic heterogeneity in autism has long been conjectured to be a major hindrance to the discovery of genetic risk factors, leading to numerous attempts to stratify children based on phenotype to increase power of discovery studies. This approach, however, is based on the hypothesis that phenotypic heterogeneity closely maps to genetic variation, which has not been tested. Our study examines the impact of subphenotyping of a well-characterized autism spectrum disorder (ASD) sample on genetic homogeneity and the ability to discover common genetic variants conferring liability to ASD. Genome-wide genotypic data of 2576 families from the Simons Simplex Collection were analyzed in the overall sample and phenotypic subgroups defined on the basis of diagnosis, IQ, and symptom profiles. We conducted a family-based association study, as well as estimating heritability and evaluating allele scores for each phenotypic subgroup. Association analyses revealed no genome-wide significant association signal. Subphenotyping did not increase power substantially. Moreover, allele scores built from the most associated single nucleotide polymorphisms, based on the odds ratio in the full sample, predicted case status in subsets of the sample equally well and heritability estimates were very similar for all subgroups. In genome-wide association analysis of the Simons Simplex Collection sample, reducing phenotypic heterogeneity had at most a modest impact on genetic homogeneity. Our results are based on a relatively small sample, one with greater homogeneity than the entire population; if they apply more broadly, they imply that analysis of subphenotypes is not a productive path forward for discovering genetic risk variants in ASD. Copyright © 2015 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
Leavitt, F; Labott, S M
1998-11-01
A growing number of psychiatric patients report satanic ritual abuse, prompting research into this controversial area. In the current study, the Word Association Test (WAT) was modified to assess experience with satanic abuse. Pilot work resulted in norms for two domains: normative and satanic. Female psychiatric patients were compared on their associations in two studies. Based on a sexual history, they were grouped into those reporting sexual abuse, those reporting satanic ritual abuse (SRA), and those without a history of sexual abuse (controls). In both studies, SRA patients gave significantly more total associations, significantly fewer normative associations, and significantly more satanic associations than did the other two groups. These results suggest that an experience base is shared by individuals reporting SRA that is not found in individuals who do not report satanic abuse (even if they do report sexual abuse). The implications of these findings are discussed from the perspective of arguments advanced by advocates and critics of SRA.
A generalized association test based on U statistics.
Wei, Changshuai; Lu, Qing
2017-07-01
Second generation sequencing technologies are being increasingly used for genetic association studies, where the main research interest is to identify sets of genetic variants that contribute to various phenotypes. The phenotype can be univariate disease status, multivariate responses and even high-dimensional outcomes. Considering the genotype and phenotype as two complex objects, this also poses a general statistical problem of testing association between complex objects. We here proposed a similarity-based test, generalized similarity U (GSU), that can test the association between complex objects. We first studied the theoretical properties of the test in a general setting and then focused on the application of the test to sequencing association studies. Based on theoretical analysis, we proposed to use Laplacian Kernel-based similarity for GSU to boost power and enhance robustness. Through simulation, we found that GSU did have advantages over existing methods in terms of power and robustness. We further performed a whole genome sequencing (WGS) scan for Alzherimer's disease neuroimaging initiative data, identifying three genes, APOE , APOC1 and TOMM40 , associated with imaging phenotype. We developed a C ++ package for analysis of WGS data using GSU. The source codes can be downloaded at https://github.com/changshuaiwei/gsu . weichangshuai@gmail.com ; qlu@epi.msu.edu. Supplementary data are available at Bioinformatics online. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com
Jin, Xiaona; Zhou, Baozhen; Zhang, Dangfeng
2018-04-01
Previous studies have suggested that tumor necrosis factor α (TNF-α), encoded by the TNFα gene, can increase osteoclast formation, and that specific alleles of the TNFα gene are associated with postmenopausal osteoporosis susceptibility in some populations; however, the exact molecular mechanism remains unknown. To investigate the potential association of nineteen polymorphisms of the TNFα gene with postmenopausal osteoporosis and bone mineral density (BMD) traits in a sample of 1288 postmenopausal women from the Han Chinese population. A total of 437 postmenopausal osteoporosis patients and 851 unrelated age-matched healthy women were recruited to the study. Single marker and haplotype based analyses were conducted to evaluate the association of nineteen single nucleotide polymorphisms (SNPs) in both patient and control groups. The SNP rs1800629 was identified as being highly significantly associated with postmenopausal osteoporosis after accounting for age and body mass index (p = 0.000087). In addition, the GG genotype of this SNP was associated with significantly lower measures of femoral neck BMD and lumbar spine BMD. Moreover, haplotype based analyses suggested significant association signals between the haplotype block, including rs1800629 with postmenopausal osteoporosis (p < 0.001). We have shown that a TNFα gene polymorphism, rs1800629, is highly significantly associated with postmenopausal osteoporosis and BMD in the female Han Chinese population. Additional sequencing-based studies are needed to investigate the genetic architecture of this genomic region and its relationship with osteoporosis-related phenotypes.
Background/Aims: Perchlorate is a widespread environmental pollutant. Previous population studies based on the National Health and Nutrition Examination Survey (NHANES) 2001-2002, showed that urinary perchlorate concentrations were associated with increased levels of thyroid stim...
ParseCNV integrative copy number variation association software with quality tracking
Glessner, Joseph T.; Li, Jin; Hakonarson, Hakon
2013-01-01
A number of copy number variation (CNV) calling algorithms exist; however, comprehensive software tools for CNV association studies are lacking. We describe ParseCNV, unique software that takes CNV calls and creates probe-based statistics for CNV occurrence in both case–control design and in family based studies addressing both de novo and inheritance events, which are then summarized based on CNV regions (CNVRs). CNVRs are defined in a dynamic manner to allow for a complex CNV overlap while maintaining precise association region. Using this approach, we avoid failure to converge and non-monotonic curve fitting weaknesses of programs, such as CNVtools and CNVassoc, and although Plink is easy to use, it only provides combined CNV state probe-based statistics, not state-specific CNVRs. Existing CNV association methods do not provide any quality tracking information to filter confident associations, a key issue which is fully addressed by ParseCNV. In addition, uncertainty in CNV calls underlying CNV associations is evaluated to verify significant results, including CNV overlap profiles, genomic context, number of probes supporting the CNV and single-probe intensities. When optimal quality control parameters are followed using ParseCNV, 90% of CNVs validate by polymerase chain reaction, an often problematic stage because of inadequate significant association review. ParseCNV is freely available at http://parsecnv.sourceforge.net. PMID:23293001
ParseCNV integrative copy number variation association software with quality tracking.
Glessner, Joseph T; Li, Jin; Hakonarson, Hakon
2013-03-01
A number of copy number variation (CNV) calling algorithms exist; however, comprehensive software tools for CNV association studies are lacking. We describe ParseCNV, unique software that takes CNV calls and creates probe-based statistics for CNV occurrence in both case-control design and in family based studies addressing both de novo and inheritance events, which are then summarized based on CNV regions (CNVRs). CNVRs are defined in a dynamic manner to allow for a complex CNV overlap while maintaining precise association region. Using this approach, we avoid failure to converge and non-monotonic curve fitting weaknesses of programs, such as CNVtools and CNVassoc, and although Plink is easy to use, it only provides combined CNV state probe-based statistics, not state-specific CNVRs. Existing CNV association methods do not provide any quality tracking information to filter confident associations, a key issue which is fully addressed by ParseCNV. In addition, uncertainty in CNV calls underlying CNV associations is evaluated to verify significant results, including CNV overlap profiles, genomic context, number of probes supporting the CNV and single-probe intensities. When optimal quality control parameters are followed using ParseCNV, 90% of CNVs validate by polymerase chain reaction, an often problematic stage because of inadequate significant association review. ParseCNV is freely available at http://parsecnv.sourceforge.net.
Schuur, M; Henneman, P; van Swieten, J C; Zillikens, M C; de Koning, I; Janssens, A C J W; Witteman, J C M; Aulchenko, Y S; Frants, R R; Oostra, B A; van Dijk, K Willems; van Duijn, C M
2010-08-01
While type 2 diabetes is well-known to be associated with poorer cognitive performance, few studies have reported on the association of metabolic syndrome (MetS) and contributing factors, such as insulin-resistance (HOMA-IR), low adiponectin-, and high C-reactive protein (CRP)-levels. We studied whether these factors are related to cognitive function and which of the MetS components are independently associated. The study was embedded in an ongoing family-based cohort study in a Dutch population. All participants underwent physical examinations, biomedical measurements, and neuropsychological testing. Linear regression models were used to determine the association between MetS, HOMA-IR, adiponectin levels, CRP, and cognitive test scores. Cross-sectional analyses were performed in 1,898 subjects (mean age 48 years, 43% men). People with MetS had significantly higher HOMA-IR scores, lower adiponectin levels, and higher CRP levels. MetS and high HOMA-IR were associated with poorer executive function in women (P = 0.03 and P = 0.009). MetS and HOMA-IR are associated with poorer executive function in women.
2016-01-01
Objective: Obesity has been shown to increase risk of depression. Persons with obesity experience discrimination because of their body weight. Across 3 studies, we tested for the first time whether experiencing (perceived) weight-based discrimination explains why obesity is prospectively associated with increases in depressive symptoms. Method: Data from 3 studies, including the English Longitudinal Study of Ageing (2008/2009–2012/2013), the Health and Retirement Study (2006/2008–2010/2012), and Midlife in the United States (1995/1996–2004/2005), were used to examine associations between obesity, perceived weight discrimination, and depressive symptoms among 20,286 U.S. and U.K. adults. Results: Across all 3 studies, Class II and III obesity were reliably associated with increases in depressive symptoms from baseline to follow-up. Perceived weight-based discrimination predicted increases in depressive symptoms over time and mediated the prospective association between obesity and depressive symptoms in all 3 studies. Persons with Class II and III obesity were more likely to report experiencing weight-based discrimination, and this explained approximately 31% of the obesity-related increase in depressive symptoms on average across the 3 studies. Conclusion: In U.S. and U.K. samples, the prospective association between obesity (defined using body mass index) and increases in depressive symptoms in adulthood may in part be explained by perceived weight discrimination. PMID:27748611
Haseda, Maho; Kondo, Naoki; Ashida, Toyo; Tani, Yukako; Takagi, Daisuke; Kondo, Katsunori
2018-03-05
Although reducing socioeconomic inequalities in depression is necessary, their associated factors have rarely been studied. This study aimed to screen the potential contextual factors associated with income-based inequality in older adults' depression. Using data from the Japan Gerontological Evaluation Study (JAGES) of 2013, we conducted an ecological study covering 77 communities in Japan. Our measures of socioeconomic inequalities in depression were the slope index of inequalities (SII) and the relative index of inequalities (RII) of the prevalence of depressive symptoms across three income levels. We categorized available community-level factors, including socio-demographic factors, social participation, social relationships, subjective changes in the residential area, and the built environment. These indicators were aggregated from individual responses of 51,962 and 52,958 physically independent men and women, respectively, aged 65 years or more. We performed multiple linear regression analyses to explore factors with statistical significance of a two-tailed P-value less than 0.05. Factors associated with shallower gradients in depression for men included higher participation in local activities and reception or provision of social support, which did not show significant association among women. Perceived increases in unemployment and economic inequalities were positively associated with larger inequalities in both genders (P < 0.05). The built environment did not indicate any significant association. A community environment fostering social activities and relationships might be associated with smaller income-based inequalities in depression. There is a need for more deterministic studies for planning of effective community interventions to address socioeconomic inequalities in depression.
Mous, Sabine E.; White, Tonya; Muetzel, Ryan L.; El Marroun, Hanan; Rijlaarsdam, Jolien; Polderman, Tinca J.C.; Jaddoe, Vincent W.; Verhulst, Frank C.; Posthuma, Danielle; Tiemeier, Henning
2017-01-01
Background Attention-deficit/hyperactivity symptoms have repeatedly been associated with poor cognitive functioning. Genetic studies have demonstrated a shared etiology of attention-deficit/hyperactivity disorder (ADHD) and cognitive ability, suggesting a common underlying neurobiology of ADHD and cognition. Further, neuroimaging studies suggest that altered cortical development is related to ADHD. In a large population-based sample we investigated whether cortical morphology, as a potential neurobiological substrate, underlies the association between attention-deficit/hyperactivity symptoms and cognitive problems. Methods The sample consisted of school-aged children with data on attention-deficit/hyperactivity symptoms, cognitive functioning and structural imaging. First, we investigated the association between attention-deficit/hyperactivity symptoms and different domains of cognition. Next, we identified cortical correlates of attention-deficit/hyperactivity symptoms and related cognitive domains. Finally, we studied the role of cortical thickness and gyrification in the behaviour–cognition associations. Results We included 776 children in our analyses. We found that attention-deficit/hyperactivity symptoms were associated specifically with problems in attention and executive functioning (EF; b = −0.041, 95% confidence interval [CI] −0.07 to −0.01, p = 0.004). Cortical thickness and gyrification were associated with both attention-deficit/hyperactivity symptoms and EF in brain regions that have been previously implicated in ADHD. This partly explained the association between attention-deficit/hyperactivity symptoms and EF (bindirect = −0.008, bias-corrected 95% CI −0.018 to −0.001). Limitations The nature of our study did not allow us to draw inferences regarding temporal associations; longitudinal studies are needed for clarification. Conclusion In a large, population-based sample of children, we identified a shared cortical morphology underlying attention-deficit/hyperactivity symptoms and EF. PMID:27673503
Mous, Sabine E; White, Tonya; Muetzel, Ryan L; El Marroun, Hanan; Rijlaarsdam, Jolien; Polderman, Tinca J C; Jaddoe, Vincent W; Verhulst, Frank C; Posthuma, Danielle; Tiemeier, Henning
2017-03-01
Attention-deficit/hyperactivity symptoms have repeatedly been associated with poor cognitive functioning. Genetic studies have demonstrated a shared etiology of attention-deficit/hyperactivity disorder (ADHD) and cognitive ability, suggesting a common underlying neurobiology of ADHD and cognition. Further, neuroimaging studies suggest that altered cortical development is related to ADHD. In a large population-based sample we investigated whether cortical morphology, as a potential neurobiological substrate, underlies the association between attention-deficit/hyperactivity symptoms and cognitive problems. The sample consisted of school-aged children with data on attention-deficit/hyperactivity symptoms, cognitive functioning and structural imaging. First, we investigated the association between attention-deficit/ hyperactivity symptoms and different domains of cognition. Next, we identified cortical correlates of attention-deficit/hyperactivity symptoms and related cognitive domains. Finally, we studied the role of cortical thickness and gyrification in the behaviour-cognition associations. We included 776 children in our analyses. We found that attention-deficit/hyperactivity symptoms were associated specifically with problems in attention and executive functioning (EF; b = -0.041, 95% confidence interval [CI] -0.07 to -0.01, p = 0.004). Cortical thickness and gyrification were associated with both attention-deficit/hyperactivity symptoms and EF in brain regions that have been previously implicated in ADHD. This partly explained the association between attention-deficit/hyperactivity symptoms and EF (b indirect = -0.008, bias-corrected 95% CI -0.018 to -0.001). The nature of our study did not allow us to draw inferences regarding temporal associations; longitudinal studies are needed for clarification. In a large, population-based sample of children, we identified a shared cortical morphology underlying attention-deficit/hyperactivity symptoms and EF.
Greaves, Felix; Pape, Utz J; King, Dominic; Darzi, Ara; Majeed, Azeem; Wachter, Robert M; Millett, Christopher
2012-07-01
Unsolicited web-based comments by patients regarding their healthcare are increasing, but controversial. The relationship between such online patient reports and conventional measures of patient experience (obtained via survey) is not known. The authors examined hospital level associations between web-based patient ratings on the National Health Service (NHS) Choices website, introduced in England during 2008, and paper-based survey measures of patient experience. The authors also aimed to compare these two methods of measuring patient experience. The authors performed a cross-sectional observational study of all (n=146) acute general NHS hospital trusts in England using data from 9997 patient web-based ratings posted on the NHS Choices website during 2009/2010. Hospital trust level indicators of patient experience from a paper-based survey (five measures) were compared with web-based patient ratings using Spearman's rank correlation coefficient. The authors compared the strength of associations among clinical outcomes, patient experience survey results and NHS Choices ratings. Web-based ratings of patient experience were associated with ratings derived from a national paper-based patient survey (Spearman ρ=0.31-0.49, p<0.001 for all). Associations with clinical outcomes were at least as strong for online ratings as for traditional survey measures of patient experience. Unsolicited web-based patient ratings of their care, though potentially prone to many biases, are correlated with survey measures of patient experience. They may be useful tools for patients when choosing healthcare providers and for clinicians to improve the quality of their services.
Luo, Li; Zhu, Yun
2012-01-01
Abstract The genome-wide association studies (GWAS) designed for next-generation sequencing data involve testing association of genomic variants, including common, low frequency, and rare variants. The current strategies for association studies are well developed for identifying association of common variants with the common diseases, but may be ill-suited when large amounts of allelic heterogeneity are present in sequence data. Recently, group tests that analyze their collective frequency differences between cases and controls shift the current variant-by-variant analysis paradigm for GWAS of common variants to the collective test of multiple variants in the association analysis of rare variants. However, group tests ignore differences in genetic effects among SNPs at different genomic locations. As an alternative to group tests, we developed a novel genome-information content-based statistics for testing association of the entire allele frequency spectrum of genomic variation with the diseases. To evaluate the performance of the proposed statistics, we use large-scale simulations based on whole genome low coverage pilot data in the 1000 Genomes Project to calculate the type 1 error rates and power of seven alternative statistics: a genome-information content-based statistic, the generalized T2, collapsing method, multivariate and collapsing (CMC) method, individual χ2 test, weighted-sum statistic, and variable threshold statistic. Finally, we apply the seven statistics to published resequencing dataset from ANGPTL3, ANGPTL4, ANGPTL5, and ANGPTL6 genes in the Dallas Heart Study. We report that the genome-information content-based statistic has significantly improved type 1 error rates and higher power than the other six statistics in both simulated and empirical datasets. PMID:22651812
Luo, Li; Zhu, Yun; Xiong, Momiao
2012-06-01
The genome-wide association studies (GWAS) designed for next-generation sequencing data involve testing association of genomic variants, including common, low frequency, and rare variants. The current strategies for association studies are well developed for identifying association of common variants with the common diseases, but may be ill-suited when large amounts of allelic heterogeneity are present in sequence data. Recently, group tests that analyze their collective frequency differences between cases and controls shift the current variant-by-variant analysis paradigm for GWAS of common variants to the collective test of multiple variants in the association analysis of rare variants. However, group tests ignore differences in genetic effects among SNPs at different genomic locations. As an alternative to group tests, we developed a novel genome-information content-based statistics for testing association of the entire allele frequency spectrum of genomic variation with the diseases. To evaluate the performance of the proposed statistics, we use large-scale simulations based on whole genome low coverage pilot data in the 1000 Genomes Project to calculate the type 1 error rates and power of seven alternative statistics: a genome-information content-based statistic, the generalized T(2), collapsing method, multivariate and collapsing (CMC) method, individual χ(2) test, weighted-sum statistic, and variable threshold statistic. Finally, we apply the seven statistics to published resequencing dataset from ANGPTL3, ANGPTL4, ANGPTL5, and ANGPTL6 genes in the Dallas Heart Study. We report that the genome-information content-based statistic has significantly improved type 1 error rates and higher power than the other six statistics in both simulated and empirical datasets.
Seroprevalence of Toxocariasis in Children with Urticaria: A Population-based Study.
Matos Fialho, Paula Mayara; Correa, Carlos Roberto Silveira; Lescano, Susana Zevallos
2017-10-01
This study described the prevalence of IgG class antibodies against Toxocara spp. and their association with urticaria in 2- to 12-year-old children. This population-based cross-sectional study was conducted between May 2012 and September 2014. The study sample comprised 168 children. Blood samples were collected to verify the presence of toxocariasis by using ELISA to detect IgG antibodies. The guardians of the children were interviewed to characterize the presence or absence of other diseases, such as urticaria. The presence of urticaria was observed in 38% of participants. The seroprevalence of toxocariasis in this population was 16%. This study confirmed a positive association between urticaria and positive serology for Toxocara and a negative independent association with canine contact and the number of household residents. There are no previous reports in the literature of a population-based study that correlates the presence of urticaria with serology for toxocariasis. © The Author [2017]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com
Ilola, Anna-Marja; Lempinen, Lotta; Huttunen, Jukka; Ristkari, Terja; Sourander, Andre
2016-05-01
There are few population-based studies on bullying behaviour among preschool children. The aims of the study were to investigate the prevalence of bullying behaviour among four-year-old children, as reported by their parents, the prevalence of types of bullying behaviour and the associations between bullying behaviour and psychosocial factors. This study was based on a population-based study sample of 931 children who attended their check-up at a child health clinic at four years of age. Parents completed the questionnaire about their child's bullying behaviour and risk factors during the check-up. Bullying behaviour, especially being both a bully and a victim, was a common phenomenon among four-year-old children. Being a bully or both a bully and victim were most strongly associated with conduct problems, while being a victim was associated with somatic symptoms and peer problems. Bullying behaviour was frequently found in preschool children and associated with a wide range of other problems, which indicate that routine checking of bullying behaviour should be included in child health clinic check-ups. Bullying prevention programmes are usually targeted at school-aged children, but this study highlights the importance of focusing already on preschool children. ©2016 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.
Reis, Rejane de Souza; Silva, Neimar de Paula; Santos, Marceli de Oliveira; Oliveira, Julio Fernando Pinto; Thuler, Luiz Claudio Santos; de Camargo, Beatriz; Pombo-de-Oliveira, Maria S
The population-based cancer registries (PBCR) and the Information System on Live Births in Brazil (Sistema de Informações sobre Nascidos Vivos [SINASC]) have information that enables the test for risk factors associated with leukemia at an early age. The aim of this study was to identify maternal and birth characteristics associated with early-age acute leukemia (EAL) in Brazil. A case-cohort study was performed using secondary dataset information of PBCR and SINASC. The risk association variables were grouped into (i) characteristics of the child at birth and (ii) characteristics of maternal exposure during pregnancy. The case-control ratio was 1:4. Linkage was performed using R software; odds ratio (OR) and 95% confidence interval (CI) were calculated by logistic regression models. EAL was associated with maternal occupational exposure to chemicals (agricultural, chemical, and petrochemical industry; adjOR: 2.18, 95% CI: 1.16-4.10) and with birth defects (adjOR: 3.62, 95% CI: 1.19-11.00). The results of this study, with the identification of EAL risk factors in population-based case-cohort study, strengthen the knowledge and improve databases, contributing to investigations on risk factors associated with childhood leukemia worldwide. Copyright © 2017 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.
Background: A previous study observed associations of urinary perchlorate with thyroid hormones based on the National Health and Nutrition Examination Survey (NHANES) 2001-2002. Increased levels of urinary perchlorate were associated with increased levels of thyroid stimulating h...
Evidence for prospective associations among depression and obesity in population-based studies.
Faith, M S; Butryn, M; Wadden, T A; Fabricatore, A; Nguyen, A M; Heymsfield, S B
2011-05-01
Obesity may lead to depression or be one of its consequences. We reviewed population-based studies in order to, first, identify the most commonly used research methods, and, second, to evaluate the strength of evidence for prospective associations among obesity and depression. We examined 25 studies, of which 10 tested 'obesity-to-depression' pathways, and 15 tested 'depression-to-obesity' pathways. Descriptive statistics summarized the frequency with which various measurements, designs and data analytic strategies were used. We tallied the number of studies that reported any vs. no statistically significant associations, and report on effect sizes, identified moderating variables within reports, and sought common findings across studies. Results indicated considerable methodological heterogeneity in the literature. Depression was assessed by clinical interview in 44% of studies, weight and height were directly measured in 32%, and only 12% used both. In total, 80% of the studies reported significant obesity-to-depression associations, with odds ratios generally in the range of 1.0 to 2.0, while only 53% of the studies reported significant depression-to-obesity associations. Sex was a common moderating variable. Thus, there was good evidence that obesity is prospectively associated with increased depression, with less consistent evidence that depression leads to obesity. Recommendations for future research regarding study samples, measurement and data analysis are provided. © 2011 The Authors. obesity reviews © 2011 International Association for the Study of Obesity.
Nabi, Hermann; Bochud, Murielle; Glaus, Jennifer; Lasserre, Aurélie M; Waeber, Gérard; Vollenweider, Peter; Preisig, Martin
2013-10-01
Studies on the association between homocysteine levels and depression have shown conflicting results. To examine the association between serum total homocysteine (tHcy) levels and major depressive disorder (MDD) in a large community sample with an extended age range. A total of 3392 men and women aged 35-66 years participating in the CoLaus study and its psychiatric arm (PsyCoLaus) were included in the analyses. High tHcy measured from fasting blood samples was defined as a concentration ≥15μmol/L. MDD was assessed using the semi-structured Diagnostic Interview for Genetics Studies. In multivariate analyses, elevated tHcy levels were associated with greater odds of meeting the diagnostic criteria for lifetime MDD among men (OR=1.71; 95% CI, 1.18-2.50). This was particularly the case for remitted MDD. Among women, there was no significant association between tHcy levels and MDD and the association tended to be in the opposite direction (OR=0.61; 95% CI, 0.34-1.08). In this large population-based study, elevated tHcy concentrations are associated with lifetime MDD and particularly with remitted MDD among men. Copyright © 2013 Elsevier Ltd. All rights reserved.
Genomic regions associated with bovine milk fatty acids in both summer and winter milk samples
2012-01-01
Background In this study we perform a genome-wide association study (GWAS) for bovine milk fatty acids from summer milk samples. This study replicates a previous study where we performed a GWAS for bovine milk fatty acids based on winter milk samples from the same population. Fatty acids from summer and winter milk are genetically similar traits and we therefore compare the regions detected in summer milk to the regions previously detected in winter milk GWAS to discover regions that explain genetic variation in both summer and winter milk. Results The GWAS of summer milk samples resulted in 51 regions associated with one or more milk fatty acids. Results are in agreement with most associations that were previously detected in a GWAS of fatty acids from winter milk samples, including eight ‘new’ regions that were not considered in the individual studies. The high correlation between the –log10(P-values) and effects of SNPs that were found significant in both GWAS imply that the effects of the SNPs were similar on winter and summer milk fatty acids. Conclusions The GWAS of fatty acids based on summer milk samples was in agreement with most of the associations detected in the GWAS of fatty acids based on winter milk samples. Associations that were in agreement between both GWAS are more likely to be involved in fatty acid synthesis compared to regions detected in only one GWAS and are therefore worthwhile to pursue in fine-mapping studies. PMID:23107417
Weight isn't selling: The insidious effects of weight stigmatization in retail settings.
Ruggs, Enrica N; Hebl, Michelle R; Williams, Amber
2015-09-01
In recent years, the literature on the stigma of obesity has grown but there still remains a paucity of research examining specific issues associated with its impact in the workplace. In the current study, we examine 3 such issues related to the influence of weight-based stigmatization in retail settings. First, we highlight research on the impact of obesity in men often is minimized or altogether excluded, and we examine whether weight-based stigmatization influences men in authentic retail settings (Study 1). Across retail contexts, Study 1 reveals that heavy (vs. nonheavy) men do experience significantly more interpersonal (subtle) discrimination. Second, we examine the "why" of weight-based stigmatization and find that weight-related negative stereotypes compound to produce indirect but strong effects of stigmatization in retail settings (Study 2). Third and finally, we examine whether weight-based stigmatization against men and women in retail also influences ratings of associated products and the organizations for which heavy individuals work (also Study 2). Results from Study 2 show that stereotypes work similarly for men and women and that a stigma-by-association effect occurs in which evaluators rate products and organizations associated with heavy (vs. nonheavy) retail personnel more negatively. Finally, we discuss the importance of these findings in gaining a more holistic look at the influence of weight stigmatization in the workplace. (c) 2015 APA, all rights reserved).
Padhukasahasram, B; Yang, J J; Levin, A M; Yang, M; Burchard, E G; Kumar, R; Kwok, P-Y; Seibold, M A; Lanfear, D E; Williams, L K
2014-08-01
Inhaled short-acting beta-agonist (SABA) medication is commonly used in asthma patients to rapidly reverse airway obstruction and improve acute symptoms. We performed a genome-wide association study of SABA medication response using gene-based association tests. A linear mixed model approach was first used for single-nucleotide polymorphism associations, and the results were later combined using GATES to generate gene-based associations. Our results identified SPATA13-AS1 as being significantly associated with SABA bronchodilator response in 328 healthy African Americans. In replication, this gene was associated with SABA response among the two separate groups of African Americans with asthma (n=1073, P=0.011 and n=1968, P=0.014), 149 healthy African Americans (P=0.003) and 556 European Americans with asthma (P=0.041). SPATA13-AS1 was also associated with longitudinal SABA medication usage in the two separate groups of African Americans with asthma (n=658, P=0.047 and n=1968, P=0.025). Future studies are needed to delineate the precise mechanism by which SPATA13-AS1 may influence SABA response.
Maskileyson, Dina
2014-10-01
The present study provides a comparative analysis of the association between wealth and health in six healthcare systems (Sweden, the United Kingdom, Germany, the Czech Republic, Israel, the United States). National samples of individuals fifty years and over reveal considerable cross-country variations in health outcomes. In all six countries wealth and health are positively associated. The findings also show that state-based healthcare systems produce better population health outcomes than private-based healthcare systems. The results indicate that in five out of the six countries studied, the wealth-health gradients were remarkably similar, despite significant variations in healthcare system type. Only in the United States was the association between wealth and health substantially different from, and much greater than that in the other five countries. The findings suggest that private-based healthcare system in the U.S. is likely to promote stronger positive associations between wealth and health. Copyright © 2014 Elsevier Ltd. All rights reserved.
Association Between Serum Triglycerides and Cerebral Amyloidosis in Cognitively Normal Elderly.
Choi, Hyo Jung; Byun, Min Soo; Yi, Dahyun; Choe, Young Min; Sohn, Bo Kyung; Baek, Hye Won; Lee, Jun Ho; Kim, Hyun Jung; Han, Ji Young; Yoon, Eun Jin; Kim, Yu Kyeong; Woo, Jong Inn; Lee, Dong Young
2016-08-01
Although many preclinical studies have suggested the possible linkage between dyslipidemia and cerebral amyloid deposition, the association between serum lipid measures and cerebral amyloid-beta (Aβ) deposition in human brain is still poorly known. We aimed to investigate the association in cognitively normal (CN) elderly individuals. Cross-sectional study. University hospital dementia clinic. 59 CN elderly. The study measures included comprehensive clinical and neuropsychological assessment based on the CERAD protocol, magnetic resonance imaging and (11)C-labelled Pittsburgh Compound B positron emission tomography scans, and quantification for serum lipid biomarkers. Multiple linear regression analyses showed that a higher serum triglycerides level was associated with heavier global cerebral Aβ deposition even after controlling age, sex, and apolipoprotein E ε4 genotype. Serum apolipoprotein B also showed significant positive association with global cerebral Aβ deposition, but the significance disappeared after controlling serum triglycerides level. No association was found between other lipid measures and global cerebral Aβ deposition. The findings suggest that serum triglycerides are closely associated with cerebral amyloidosis, although population-based prospective studies are needed to provide further evidence of the causative effect of triglycerides on cerebral amyloidosis. Copyright © 2016 American Association for Geriatric Psychiatry. Published by Elsevier Inc. All rights reserved.
Genome-wide prediction of childhood asthma and related phenotypes in a longitudinal birth cohort
Spycher, Ben D.; Henderson, John; Granell, Raquel; Evans, David M.; Smith, George Davey; Timpson, Nicholas J.; Sterne, Jonathan A. C.
2016-01-01
Background Childhood wheezing and asthma vary greatly in clinical presentation and time course. The extent to which phenotypic variation reflects heterogeneity in disease pathways is unclear. Objective To assess the extent to which single nucleotide polymorphisms (SNPs) associated with childhood asthma in a genome-wide association study are predictive of asthma-related phenotypes. Methods In 8365 children from a population based birth cohort, the Avon Longitudinal Study of Parents and Children, allelic scores were derived based on between 10 and 215,443 SNPs ranked according to inverse of the p-value for their association with physician diagnosed asthma in an independent genome-wide association study (6176 cases and 7111 controls). We assessed the predictive value of allelic scores for asthma-related outcomes at age 7-9 years (physician’s diagnosis, longitudinal wheezing phenotypes, and measurements of pulmonary function, bronchial responsiveness and atopy). Results Scores based on the 46 highest-ranked SNPs were associated with the symptom-based phenotypes persistent (P<10-11, area under ROC curve (AUC)=0.59) and intermediate onset (P<10-3, AUC=0.58) wheeze. Among lower-ranked SNPs (ranks 21,545-46,416), there was evidence for associations with diagnosed asthma (P<10-4, AUC=0.54) and atopy (P<10-5, AUC=0.55). We found little evidence of associations with transient early wheezing, reduced pulmonary function or non-asthma phenotypes. Conclusion The genetic origins of asthma are diverse and: some pathways are specific to wheezing syndromes while others are shared with atopy and bronchial hyper-responsiveness. Out study also provides evidence of aetiological differences among wheezing syndromes. PMID:22846752
ERIC Educational Resources Information Center
Rusby, Julie C.; Jones, Laura Backen; Crowley, Ryann; Smolkowski, Keith
2013-01-01
Home-based child caregivers face unique stressors related to the nature of their work. One hundred and fifty-five home-based child care providers in Oregon, USA, participated in this cross-sectional correlational study. We investigated associations between indicators of caregiver stress and child care working conditions, the quality of caregiver…
ERIC Educational Resources Information Center
Waight, Noemi; Liu, Xiufeng; Gregorius, Roberto Ma.; Smith, Erica; Park, Mihwa
2014-01-01
This paper reports on a case study of an immersive and integrated multi-instructional approach (namely computer-based model introduction and connection with content; facilitation of individual student exploration guided by exploratory worksheet; use of associated differentiated labs and use of model-based assessments) in the implementation of…
GWASinlps: Nonlocal prior based iterative SNP selection tool for genome-wide association studies.
Sanyal, Nilotpal; Lo, Min-Tzu; Kauppi, Karolina; Djurovic, Srdjan; Andreassen, Ole A; Johnson, Valen E; Chen, Chi-Hua
2018-06-19
Multiple marker analysis of the genome-wide association study (GWAS) data has gained ample attention in recent years. However, because of the ultra high-dimensionality of GWAS data, such analysis is challenging. Frequently used penalized regression methods often lead to large number of false positives, whereas Bayesian methods are computationally very expensive. Motivated to ameliorate these issues simultaneously, we consider the novel approach of using nonlocal priors in an iterative variable selection framework. We develop a variable selection method, named, iterative nonlocal prior based selection for GWAS, or GWASinlps, that combines, in an iterative variable selection framework, the computational efficiency of the screen-and-select approach based on some association learning and the parsimonious uncertainty quantification provided by the use of nonlocal priors. The hallmark of our method is the introduction of 'structured screen-and-select' strategy, that considers hierarchical screening, which is not only based on response-predictor associations, but also based on response-response associations, and concatenates variable selection within that hierarchy. Extensive simulation studies with SNPs having realistic linkage disequilibrium structures demonstrate the advantages of our computationally efficient method compared to several frequentist and Bayesian variable selection methods, in terms of true positive rate, false discovery rate, mean squared error, and effect size estimation error. Further, we provide empirical power analysis useful for study design. Finally, a real GWAS data application was considered with human height as phenotype. An R-package for implementing the GWASinlps method is available at https://cran.r-project.org/web/packages/GWASinlps/index.html. Supplementary data are available at Bioinformatics online.
Brain Graph Topology Changes Associated with Anti-Epileptic Drug Use
Levin, Harvey S.; Chiang, Sharon
2015-01-01
Abstract Neuroimaging studies of functional connectivity using graph theory have furthered our understanding of the network structure in temporal lobe epilepsy (TLE). Brain network effects of anti-epileptic drugs could influence such studies, but have not been systematically studied. Resting-state functional MRI was analyzed in 25 patients with TLE using graph theory analysis. Patients were divided into two groups based on anti-epileptic medication use: those taking carbamazepine/oxcarbazepine (CBZ/OXC) (n=9) and those not taking CBZ/OXC (n=16) as a part of their medication regimen. The following graph topology metrics were analyzed: global efficiency, betweenness centrality (BC), clustering coefficient, and small-world index. Multiple linear regression was used to examine the association of CBZ/OXC with graph topology. The two groups did not differ from each other based on epilepsy characteristics. Use of CBZ/OXC was associated with a lower BC. Longer epilepsy duration was also associated with a lower BC. These findings can inform graph theory-based studies in patients with TLE. The changes observed are discussed in relation to the anti-epileptic mechanism of action and adverse effects of CBZ/OXC. PMID:25492633
Rigters, Stephanie C; Cremers, Lotte G M; Ikram, M Arfan; van der Schroeff, Marc P; de Groot, Marius; Roshchupkin, Gennady V; Niessen, Wiro J N; Baatenburg de Jong, Robert J; Goedegebure, André; Vernooij, Meike W
2018-01-01
To study the relation between the microstructure of white matter in the brain and hearing function in older adults we carried out a population-based, cross-sectional study. In 2562 participants of the Rotterdam Study, we conducted diffusion tensor imaging to determine the microstructure of the white-matter tracts. We performed pure-tone audiogram and digit-in-noise tests to quantify hearing acuity. Poorer white-matter microstructure, especially in the association tracts, was related to poorer hearing acuity. After differentiating the separate white-matter tracts in the left and right hemisphere, poorer white-matter microstructure in the right superior longitudinal fasciculus and the right uncinate fasciculus remained significantly associated with worse hearing. These associations did not significantly differ between middle-aged (51-69 years old) and older (70-100 years old) participants. Progressing age was thus not found to be an effect modifier. In a voxel-based analysis no voxels in the white matter were significantly associated with hearing impairment. Copyright © 2017 Elsevier Inc. All rights reserved.
Chen, Ming-Huei; Yanek, Lisa R; Backman, Joshua D; Eicher, John D; Huffman, Jennifer E; Ben-Shlomo, Yoav; Beswick, Andrew D; Yerges-Armstrong, Laura M; Shuldiner, Alan R; O'Connell, Jeffrey R; Mathias, Rasika A; Becker, Diane M; Becker, Lewis C; Lewis, Joshua P; Johnson, Andrew D; Faraday, Nauder
2017-11-29
Previous genome-wide association studies (GWAS) have identified several variants associated with platelet function phenotypes; however, the proportion of variance explained by the identified variants is mostly small. Rare coding variants, particularly those with high potential for impact on protein structure/function, may have substantial impact on phenotype but are difficult to detect by GWAS. The main purpose of this study was to identify low frequency or rare variants associated with platelet function using genotype data from the Illumina HumanExome Bead Chip. Three family-based cohorts of European ancestry, including ~4,000 total subjects, comprised the discovery cohort and two independent cohorts, one of European and one of African American ancestry, were used for replication. Optical aggregometry in platelet-rich plasma was performed in all the discovery cohorts in response to adenosine diphosphate (ADP), epinephrine, and collagen. Meta-analyses were performed using both gene-based and single nucleotide variant association methods. The gene-based meta-analysis identified a significant association (P = 7.13 × 10 -7 ) between rare genetic variants in ANKRD26 and ADP-induced platelet aggregation. One of the ANKRD26 SNVs - rs191015656, encoding a threonine to isoleucine substitution predicted to alter protein structure/function, was replicated in Europeans. Aggregation increases of ~20-50% were observed in heterozygotes in all cohorts. Novel genetic signals in ABCG1 and HCP5 were also associated with platelet aggregation to ADP in meta-analyses, although only results for HCP5 could be replicated. The SNV in HCP5 intersects epigenetic signatures in CD41+ megakaryocytes suggesting a new functional role in platelet biology for HCP5. This is the first study to use gene-based association methods from SNV array genotypes to identify rare variants related to platelet function. The molecular mechanisms and pathophysiological relevance for the identified genetic associations requires further study.
Gallagher, Denis T; Hadjiefthyvoulou, Florentia; Fisk, John E; Montgomery, Catharine; Robinson, Sarita J; Judge, Jeannie
2014-01-01
Neuroimaging evidence suggests that ecstasy-related reductions in SERT densities relate more closely to the number of tablets typically consumed per session rather than estimated total lifetime use. To better understand the basis of drug related deficits in prospective memory (p.m.) we explored the association between p.m. and average long-term typical dose and long-term frequency of use. Study 1: Sixty-five ecstasy/polydrug users and 85 nonecstasy users completed an event-based, a short-term and a long-term time-based p.m. task. Study 2: Study 1 data were merged with outcomes on the same p.m. measures from a previous study creating a combined sample of 103 ecstasy/polydrug users, 38 cannabis-only users, and 65 nonusers of illicit drugs. Study 1: Ecstasy/polydrug users had significant impairments on all p.m. outcomes compared with nonecstasy users. Study 2: Ecstasy/polydrug users were impaired in event-based p.m. compared with both other groups and in long-term time-based p.m. compared with nonillicit drug users. Both drug using groups did worse on the short-term time-based p.m. task compared with nonusers. Higher long-term average typical dose of ecstasy was associated with poorer performance on the event and short-term time-based p.m. tasks and accounted for unique variance in the two p.m. measures over and above the variance associated with cannabis and cocaine use. The typical ecstasy dose consumed in a single session is an important predictor of p.m. impairments with higher doses reflecting increasing tolerance giving rise to greater p.m. impairment.
The impact of body mass index on the prevalence of low back pain: the HUNT study.
Heuch, Ingrid; Hagen, Knut; Heuch, Ivar; Nygaard, Øystein; Zwart, John-Anker
2010-04-01
A cross-sectional population-based study. To examine the association between body mass index and chronic low back pain, with adjustment for potential confounders. Although many studies have investigated this association, it is still unclear whether there is a general relationship between body mass index and low back pain which applies to all populations. This study is based on data collected in the HUNT 2 study in the county of Nord-Trøndelag in Norway between 1995 and 1997. Among a total of 92,936 persons eligible for participation, 30,102 men and 33,866 women gave information on body mass index and indicated whether they suffered from chronic low back pain (69% participation rate). A total of 6293 men (20.9%) and 8923 women (26.3%) experienced chronic low back pain. Relations were assessed by logistic regression of low back pain with respect to body mass index and other variables. In both sexes, a high body mass index was significantly associated with an increased prevalence of low back pain. In men the estimated OR per 5 kg/m increase in body mass index was 1.07 (95% CI: 1.03-1.12) and in women 1.17 (95% CI: 1.14-1.21), after adjustment for age, with a significantly stronger association in women. Additional adjustment for education, smoking status, leisure time physical activity, employment status, and activity at work hardly affected these associations. No interactions were found with most other factors. This large population-based study indicates that obesity is associated with a high prevalence of low back pain. Further studies are needed to determine if the association is causal.
McGlynn, Natalie; Kirsh, Victoria A.; Cotterchio, Michelle; Harris, M. Anne; Nadalin, Victoria; Kreiger, Nancy
2015-01-01
Background/Objectives It has been suggested that the association between shift work and chronic disease is mediated by an increase in obesity. However, investigations of the relationship between shift work and obesity reveal mixed findings. Using a recently developed exposure assessment tool, this study examined the association between shift work and obesity among Canadian women from two studies: a cohort of university alumni, and a population-based study. Methods Self-administered questionnaire data were used from healthy, currently employed females in a population-based study, the Ontario Women’s Diet and Health case-control study (n = 1611 controls), and from a subset of a of university alumni from the Canadian Study of Diet, Lifestyle, and Health (n = 1097) cohort study. Overweight was defined as BMI≥25 to <30, and obesity as BMI≥30. Reported occupation was converted to occupational codes and linked to a probability of shift work value derived from Survey of Labour and Income Dynamics data. Regular evenings, nights, or rotating work comprised shift work. Polytomous logistic regression estimated the association between probability of shift work, categorized as near nil, low, medium, and high probability of shift work, on overweight and obesity, controlling for detected confounders. Results In the population-based sample, high probability of shift work was associated with obesity (reference = near nil probability of shift work, OR: 1.88, 95% CI: 1.01–3.51, p = 0.047). In the alumni cohort, no significant association was detected between shift work and overweight or obesity. Conclusions As these analyses found a positive association between high probability of shift work exposure and obesity in a population-based sample, but not in an alumni cohort, it is suggested that the relationship between shift work and obesity is complex, and may be particularly susceptible to occupational and education-related factors within a given population. PMID:26376050
McGlynn, Natalie; Kirsh, Victoria A; Cotterchio, Michelle; Harris, M Anne; Nadalin, Victoria; Kreiger, Nancy
2015-01-01
It has been suggested that the association between shift work and chronic disease is mediated by an increase in obesity. However, investigations of the relationship between shift work and obesity reveal mixed findings. Using a recently developed exposure assessment tool, this study examined the association between shift work and obesity among Canadian women from two studies: a cohort of university alumni, and a population-based study. Self-administered questionnaire data were used from healthy, currently employed females in a population-based study, the Ontario Women's Diet and Health case-control study (n = 1611 controls), and from a subset of a of university alumni from the Canadian Study of Diet, Lifestyle, and Health (n = 1097) cohort study. Overweight was defined as BMI≥25 to <30, and obesity as BMI≥30. Reported occupation was converted to occupational codes and linked to a probability of shift work value derived from Survey of Labour and Income Dynamics data. Regular evenings, nights, or rotating work comprised shift work. Polytomous logistic regression estimated the association between probability of shift work, categorized as near nil, low, medium, and high probability of shift work, on overweight and obesity, controlling for detected confounders. In the population-based sample, high probability of shift work was associated with obesity (reference = near nil probability of shift work, OR: 1.88, 95% CI: 1.01-3.51, p = 0.047). In the alumni cohort, no significant association was detected between shift work and overweight or obesity. As these analyses found a positive association between high probability of shift work exposure and obesity in a population-based sample, but not in an alumni cohort, it is suggested that the relationship between shift work and obesity is complex, and may be particularly susceptible to occupational and education-related factors within a given population.
Cáceres, Pablo; San Martín, René
2017-01-01
Many advances have been made over the last decades in describing, on the one hand, the link between reward-based learning and decision-making, and on the other hand, the link between impulsivity and decision-making. However, the association between reward-based learning and impulsivity remains poorly understood. In this study, we evaluated the association between individual differences in loss-minimizing and gain-maximizing behavior in a learning-based probabilistic decision-making task and individual differences in cognitive impulsivity. We found that low cognitive impulsivity was associated both with a better performance minimizing losses and maximizing gains during the task. These associations remained significant after controlling for mathematical skills and gender as potential confounders. We discuss potential mechanisms through which cognitive impulsivity might interact with reward-based learning and decision-making. PMID:28261137
Cáceres, Pablo; San Martín, René
2017-01-01
Many advances have been made over the last decades in describing, on the one hand, the link between reward-based learning and decision-making, and on the other hand, the link between impulsivity and decision-making. However, the association between reward-based learning and impulsivity remains poorly understood. In this study, we evaluated the association between individual differences in loss-minimizing and gain-maximizing behavior in a learning-based probabilistic decision-making task and individual differences in cognitive impulsivity. We found that low cognitive impulsivity was associated both with a better performance minimizing losses and maximizing gains during the task. These associations remained significant after controlling for mathematical skills and gender as potential confounders. We discuss potential mechanisms through which cognitive impulsivity might interact with reward-based learning and decision-making.
Estimation of the proteomic cancer co-expression sub networks by using association estimators.
Erdoğan, Cihat; Kurt, Zeyneb; Diri, Banu
2017-01-01
In this study, the association estimators, which have significant influences on the gene network inference methods and used for determining the molecular interactions, were examined within the co-expression network inference concept. By using the proteomic data from five different cancer types, the hub genes/proteins within the disease-associated gene-gene/protein-protein interaction sub networks were identified. Proteomic data from various cancer types is collected from The Cancer Proteome Atlas (TCPA). Correlation and mutual information (MI) based nine association estimators that are commonly used in the literature, were compared in this study. As the gold standard to measure the association estimators' performance, a multi-layer data integration platform on gene-disease associations (DisGeNET) and the Molecular Signatures Database (MSigDB) was used. Fisher's exact test was used to evaluate the performance of the association estimators by comparing the created co-expression networks with the disease-associated pathways. It was observed that the MI based estimators provided more successful results than the Pearson and Spearman correlation approaches, which are used in the estimation of biological networks in the weighted correlation network analysis (WGCNA) package. In correlation-based methods, the best average success rate for five cancer types was 60%, while in MI-based methods the average success ratio was 71% for James-Stein Shrinkage (Shrink) and 64% for Schurmann-Grassberger (SG) association estimator, respectively. Moreover, the hub genes and the inferred sub networks are presented for the consideration of researchers and experimentalists.
Estimation of the proteomic cancer co-expression sub networks by using association estimators
Kurt, Zeyneb; Diri, Banu
2017-01-01
In this study, the association estimators, which have significant influences on the gene network inference methods and used for determining the molecular interactions, were examined within the co-expression network inference concept. By using the proteomic data from five different cancer types, the hub genes/proteins within the disease-associated gene-gene/protein-protein interaction sub networks were identified. Proteomic data from various cancer types is collected from The Cancer Proteome Atlas (TCPA). Correlation and mutual information (MI) based nine association estimators that are commonly used in the literature, were compared in this study. As the gold standard to measure the association estimators’ performance, a multi-layer data integration platform on gene-disease associations (DisGeNET) and the Molecular Signatures Database (MSigDB) was used. Fisher's exact test was used to evaluate the performance of the association estimators by comparing the created co-expression networks with the disease-associated pathways. It was observed that the MI based estimators provided more successful results than the Pearson and Spearman correlation approaches, which are used in the estimation of biological networks in the weighted correlation network analysis (WGCNA) package. In correlation-based methods, the best average success rate for five cancer types was 60%, while in MI-based methods the average success ratio was 71% for James-Stein Shrinkage (Shrink) and 64% for Schurmann-Grassberger (SG) association estimator, respectively. Moreover, the hub genes and the inferred sub networks are presented for the consideration of researchers and experimentalists. PMID:29145449
Vojinovic, Dina; Brison, Nathalie; Ahmad, Shahzad; Noens, Ilse; Pappa, Irene; Karssen, Lennart C; Tiemeier, Henning; van Duijn, Cornelia M; Peeters, Hilde; Amin, Najaf
2017-08-01
Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder with a complex genetic architecture. To identify genetic variants underlying ASD, we performed single-variant and gene-based genome-wide association studies using a dense genotyping array containing over 2.3 million single-nucleotide variants in a discovery sample of 160 families with at least one child affected with non-syndromic ASD using a binary (ASD yes/no) phenotype and a quantitative autistic trait. Replication of the top findings was performed in Psychiatric Genomics Consortium and Erasmus Rucphen Family (ERF) cohort study. Significant association of quantitative autistic trait was observed with the TTC25 gene at 17q21.2 (effect size=10.2, P-value=3.4 × 10 -7 ) in the gene-based analysis. The gene also showed nominally significant association in the cohort-based ERF study (effect=1.75, P-value=0.05). Meta-analysis of discovery and replication improved the association signal (P-value meta =1.5 × 10 -8 ). No genome-wide significant signal was observed in the single-variant analysis of either the binary ASD phenotype or the quantitative autistic trait. Our study has identified a novel gene TTC25 to be associated with quantitative autistic trait in patients with ASD. The replication of association in a cohort-based study and the effect estimate suggest that variants in TTC25 may also be relevant for broader ASD phenotype in the general population. TTC25 is overexpressed in frontal cortex and testis and is known to be involved in cilium movement and thus an interesting candidate gene for autistic trait.
Church-Based Social Support Among Caribbean Blacks in the United States
Nguyen, Ann W.; Taylor, Robert Joseph; Chatters, Linda M.
2016-01-01
An emerging body of research notes the importance of church-based social support networks in the daily lives of Americans. However, few studies examine church-based support, and especially among ethnic subgroups within the U.S. Black population, such as Caribbean Blacks. This study uses data from the National Survey of American Life (NSAL) to examine demographic and religious participation (e.g., attendance, interaction) correlates of church-based social support (e.g., receipt of emotional support, receipt of general support, provision of support to others, and negative interaction) among Caribbean Blacks residing in the U.S. Multiple regression analyses indicated that religious participation was associated with all four dependent variables. Church attendance was positively associated with receiving emotional support, general social support, and providing support to others, but was not associated with negative interaction. Frequency of interaction with fellow congregants was positively associated with receiving emotional support, receiving general support, providing support to others and negative interaction. Demographic findings indicated that women provided more support to church members and experienced more negative interactions with members than did men. Education was positively associated with frequency of support; household income was negatively associated with receiving emotional support and providing social support to others. Findings are discussed in relation to the role of church-based support networks in the lives of Caribbean Black immigrants and communities. PMID:27942078
Team-Based Learning Enhances Performance in Introductory Biology
ERIC Educational Resources Information Center
Carmichael, Jeffrey
2009-01-01
Given the problems associated with the traditional lecture method, the constraints associated with large classes, and the effectiveness of active learning, continued development and testing of efficient student-centered learning approaches are needed. This study explores the effectiveness of team-based learning (TBL) in a large-enrollment…
Chung, Ren-Hua; Chiu, Yen-Feng; Hung, Yi-Jen; Lee, Wen-Jane; Wu, Kwan-Dun; Chen, Hui-Ling; Lin, Ming-Wei; Chen, Yii-Der I; Quertermous, Thomas; Hsiung, Chao A
2017-08-08
Fasting glucose and fasting insulin are glycemic traits closely related to diabetes, and understanding the role of genetic factors in these traits can help reveal the etiology of type 2 diabetes. Although single nucleotide polymorphisms (SNPs) in several candidate genes have been found to be associated with fasting glucose and fasting insulin, copy number variations (CNVs), which have been reported to be associated with several complex traits, have not been reported for association with these two traits. We aimed to identify CNVs associated with fasting glucose and fasting insulin. We conducted a genome-wide CNV association analysis for fasting plasma glucose (FPG) and fasting plasma insulin (FPI) using a family-based genome-wide association study sample from a Han Chinese population in Taiwan. A family-based CNV association test was developed in this study to identify common CNVs (i.e., CNVs with frequencies ≥ 5%), and a generalized estimating equation approach was used to test the associations between the traits and counts of global rare CNVs (i.e., CNVs with frequencies <5%). We found a significant genome-wide association for common deletions with a frequency of 5.2% in the Scm-like with four mbt domains 1 (SFMBT1) gene with FPG (association p-value = 2×10 -4 and an adjusted p-value = 0.0478 for multiple testing). No significant association was observed between global rare CNVs and FPG or FPI. The deletions in 20 individuals with DNA samples available were successfully validated using PCR-based amplification. The association of the deletions in SFMBT1 with FPG was further evaluated using an independent population-based replication sample obtained from the Taiwan Biobank. An association p-value of 0.065, which was close to the significance level of 0.05, for FPG was obtained by testing 9 individuals with CNVs in the SFMBT1 gene region and 11,692 individuals with normal copies in the replication cohort. Previous studies have found that SNPs in SFMBT1 are associated with blood pressure and serum urate concentration, suggesting that SFMBT1 may have functional implications in some metabolic-related traits.
Cristofoletti, Maria F; Gimeno, Suely G A; Ferreira, Sandra R G; Cardoso, Marly A
2013-08-01
The aim of this study was to investigate the association between the consumption of processed meat with overall, abdominal, and overall with abdominal obesity in a Japanese-Brazilian population, which is known to be at cardiometabolic risk. A total of 329 men and 443 women aged ≥ 30 years were evaluated in a cross-sectional population-based survey. Diagnosis of overall obesity and abdominal obesity were based on the World Health Organization (WHO) criteria for Asians. Food intake was assessed by a validated food frequency questionaire. In men, processed meat intake was positively associated with overall with abdominal obesity (OR 2.97; 95%CI 1.13-7.78) after adjustment. In women, only the red meat group was associated with overall with abdominal obesity after adjustment (OR 0.47, 95%CI 0.23-0.96). Our results showed that high intakes of processed meats were associated with overall with abdominal obesity in male Japanese-Brazilians, but not in females.
Donovan, Elizabeth; Wood, Mollie; Frayjo, Kezia; Black, Ryan A.; Surette, Daniel A.
2011-01-01
Alcohol consumption among college students remains a major public health concern. Universal, Web-based interventions to reduce risks associated with student alcohol consumption have been found to be effective in changing their alcohol-related behavior. Recent studies also indicate that parent-based interventions, delivered in booklet form, are effective. A parent-based intervention that is also Web-based may be well suited to a dispersed parent population; however, no such tool is currently available. The purpose of this study was to test the efficacy of an online parent-based intervention designed to (1) increase communication between parents and students about alcohol and (2) reduce risks associated with alcohol use to students. A total of 558 participants, comprising 279 parent-teen dyads, were enrolled in the study. The findings suggested that parents who participated in the online intervention were more likely to discuss protective behavioral strategies, particularly those related to manner of drinking and stopping/limiting drinking, with their teens, as compared with parents in an e-newsletter control group. Moreover, students whose parents received the intervention were more likely to use a range of protective behavioral strategies, particularly those related to manner of drinking and stopping/limiting drinking, as compared with students whose parents did not receive the intervention. A universal, online, parent-based intervention to reduce risks associated with student alcohol consumption may be an efficient and effective component of a college’s overall prevention strategy. PMID:21963316
Lobach, Irvna; Fan, Ruzone; Carroll, Raymond T.
2011-01-01
With the advent of dense single nucleotide polymorphism genotyping, population-based association studies have become the major tools for identifying human disease genes and for fine gene mapping of complex traits. We develop a genotype-based approach for association analysis of case-control studies of gene-environment interactions in the case when environmental factors are measured with error and genotype data are available on multiple genetic markers. To directly use the observed genotype data, we propose two genotype-based models: genotype effect and additive effect models. Our approach offers several advantages. First, the proposed risk functions can directly incorporate the observed genotype data while modeling the linkage disequihbrium information in the regression coefficients, thus eliminating the need to infer haplotype phase. Compared with the haplotype-based approach, an estimating procedure based on the proposed methods can be much simpler and significantly faster. In addition, there is no potential risk due to haplotype phase estimation. Further, by fitting the proposed models, it is possible to analyze the risk alleles/variants of complex diseases, including their dominant or additive effects. To model measurement error, we adopt the pseudo-likelihood method by Lobach et al. [2008]. Performance of the proposed method is examined using simulation experiments. An application of our method is illustrated using a population-based case-control study of association between calcium intake with the risk of colorectal adenoma development. PMID:21031455
2010-01-01
Background Schizophrenia is the collective term for an exclusively clinically diagnosed, heterogeneous group of mental disorders with still obscure biological roots. Based on the assumption that valuable information about relevant genetic and environmental disease mechanisms can be obtained by association studies on patient cohorts of ≥ 1000 patients, if performed on detailed clinical datasets and quantifiable biological readouts, we generated a new schizophrenia data base, the GRAS (Göttingen Research Association for Schizophrenia) data collection. GRAS is the necessary ground to study genetic causes of the schizophrenic phenotype in a 'phenotype-based genetic association study' (PGAS). This approach is different from and complementary to the genome-wide association studies (GWAS) on schizophrenia. Methods For this purpose, 1085 patients were recruited between 2005 and 2010 by an invariable team of traveling investigators in a cross-sectional field study that comprised 23 German psychiatric hospitals. Additionally, chart records and discharge letters of all patients were collected. Results The corresponding dataset extracted and presented in form of an overview here, comprises biographic information, disease history, medication including side effects, and results of comprehensive cross-sectional psychopathological, neuropsychological, and neurological examinations. With >3000 data points per schizophrenic subject, this data base of living patients, who are also accessible for follow-up studies, provides a wide-ranging and standardized phenotype characterization of as yet unprecedented detail. Conclusions The GRAS data base will serve as prerequisite for PGAS, a novel approach to better understanding 'the schizophrenias' through exploring the contribution of genetic variation to the schizophrenic phenotypes. PMID:21067598
Haplotype-based approach to known MS-associated regions increases the amount of explained risk
Khankhanian, Pouya; Gourraud, Pierre-Antoine; Lizee, Antoine; Goodin, Douglas S
2015-01-01
Genome-wide association studies (GWAS), using single nucleotide polymorphisms (SNPs), have yielded 110 non-human leucocyte antigen genomic regions that are associated with multiple sclerosis (MS). Despite this large number of associations, however, only 28% of MS-heritability can currently be explained. Here we compare the use of multi-SNP-haplotypes to the use of single-SNPs as alternative methods to describe MS genetic risk. SNP-haplotypes (of various lengths from 1 up to 15 contiguous SNPs) were constructed at each of the 110 previously identified, MS-associated, genomic regions. Even after correcting for the larger number of statistical comparisons made when using the haplotype-method, in 32 of the regions, the SNP-haplotype based model was markedly more significant than the single-SNP based model. By contrast, in no region was the single-SNP based model similarly more significant than the SNP-haplotype based model. Moreover, when we included the 932 MS-associated SNP-haplotypes (that we identified from 102 regions) as independent variables into a logistic linear model, the amount of MS-heritability, as assessed by Nagelkerke's R-squared, was 38%, which was considerably better than 29%, which was obtained by using only single-SNPs. This study demonstrates that SNP-haplotypes can be used to fine-map the genetic associations within regions of interest previously identified by single-SNP GWAS. Moreover, the amount of the MS genetic risk explained by the SNP-haplotype associations in the 110 MS-associated genomic regions was considerably greater when using SNP-haplotypes than when using single-SNPs. Also, the use of SNP-haplotypes can lead to the discovery of new regions of interest, which have not been identified by a single-SNP GWAS. PMID:26185143
Bao, Wei; Hu, Frank B.; Rong, Shuang; Rong, Ying; Bowers, Katherine; Schisterman, Enrique F.; Liu, Liegang; Zhang, Cuilin
2013-01-01
This study aimed to evaluate the predictive performance of genetic risk models based on risk loci identified and/or confirmed in genome-wide association studies for type 2 diabetes mellitus. A systematic literature search was conducted in the PubMed/MEDLINE and EMBASE databases through April 13, 2012, and published data relevant to the prediction of type 2 diabetes based on genome-wide association marker–based risk models (GRMs) were included. Of the 1,234 potentially relevant articles, 21 articles representing 23 studies were eligible for inclusion. The median area under the receiver operating characteristic curve (AUC) among eligible studies was 0.60 (range, 0.55–0.68), which did not differ appreciably by study design, sample size, participants’ race/ethnicity, or the number of genetic markers included in the GRMs. In addition, the AUCs for type 2 diabetes did not improve appreciably with the addition of genetic markers into conventional risk factor–based models (median AUC, 0.79 (range, 0.63–0.91) vs. median AUC, 0.78 (range, 0.63–0.90), respectively). A limited number of included studies used reclassification measures and yielded inconsistent results. In conclusion, GRMs showed a low predictive performance for risk of type 2 diabetes, irrespective of study design, participants’ race/ethnicity, and the number of genetic markers included. Moreover, the addition of genome-wide association markers into conventional risk models produced little improvement in predictive performance. PMID:24008910
Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.
Lin, Jhih-Rong; Zhang, Quanwei; Cai, Ying; Morrow, Bernice E; Zhang, Zhengdong D
2017-12-01
Rare variants of major effect play an important role in human complex diseases and can be discovered by sequencing-based genome-wide association studies. Here, we introduce an integrated approach that combines the rare variant association test with gene network and phenotype information to identify risk genes implicated by rare variants for human complex diseases. Our data integration method follows a 'discovery-driven' strategy without relying on prior knowledge about the disease and thus maintains the unbiased character of genome-wide association studies. Simulations reveal that our method can outperform a widely-used rare variant association test method by 2 to 3 times. In a case study of a small disease cohort, we uncovered putative risk genes and the corresponding rare variants that may act as genetic modifiers of congenital heart disease in 22q11.2 deletion syndrome patients. These variants were missed by a conventional approach that relied on the rare variant association test alone.
Ameling, Sabine; Kacprowski, Tim; Chilukoti, Ravi Kumar; Malsch, Carolin; Liebscher, Volkmar; Suhre, Karsten; Pietzner, Maik; Friedrich, Nele; Homuth, Georg; Hammer, Elke; Völker, Uwe
2015-10-14
Non-cellular blood circulating microRNAs (plasma miRNAs) represent a promising source for the development of prognostic and diagnostic tools owing to their minimally invasive sampling, high stability, and simple quantification by standard techniques such as RT-qPCR. So far, the majority of association studies involving plasma miRNAs were disease-specific case-control analyses. In contrast, in the present study, plasma miRNAs were analysed in a sample of 372 individuals from a population-based cohort study, the Study of Health in Pomerania (SHIP). Quantification of miRNA levels was performed by RT-qPCR using the Exiqon Serum/Plasma Focus microRNA PCR Panel V3.M covering 179 different miRNAs. Of these, 155 were included in our analyses after quality-control. Associations between plasma miRNAs and the phenotypes age, body mass index (BMI), and sex were assessed via a two-step linear regression approach per miRNA. The first step regressed out the technical parameters and the second step determined the remaining associations between the respective plasma miRNA and the phenotypes of interest. After regressing out technical parameters and adjusting for the respective other two phenotypes, 7, 15, and 35 plasma miRNAs were significantly (q < 0.05) associated with age, BMI, and sex, respectively. Additional adjustment for the blood cell parameters identified 12 and 19 miRNAs to be significantly associated with age and BMI, respectively. Most of the BMI-associated miRNAs likely originate from liver. Sex-associated differences in miRNA levels were largely determined by differences in blood cell parameters. Thus, only 7 as compared to originally 35 sex-associated miRNAs displayed sex-specific differences after adjustment for blood cell parameters. These findings emphasize that circulating miRNAs are strongly impacted by age, BMI, and sex. Hence, these parameters should be considered as covariates in association studies based on plasma miRNA levels. The established experimental and computational workflow can now be used in future screening studies to determine associations of plasma miRNAs with defined disease phenotypes.
Occupational factors and pancreatic cancer.
Norell, S; Ahlbom, A; Olin, R; Erwald, R; Jacobson, G; Lindberg-Navier, I; Wiechel, K L
1986-01-01
The relation between occupational factors and pancreatic cancer has been studied by two different approaches: a population based case-control study with two series of controls and a retrospective cohort study based on register data. With both approaches, some support was found for an association with occupational exposure to petroleum products. Associations were also indicated with exposure to paint thinner (case-control study) and work in painting and in paint and varnish factories (cohort study), for exposure to detergents, floor cleaning agents, or polish (case-control study) and with floor polishing or window cleaning (cohort study), and for exposure to refuse (case-control study) and work in refuse disposal plants (cohort study). PMID:3790458
ERIC Educational Resources Information Center
Alati, Rosa; Gunnell, David; Najman, Jake; Williams, Gail; Lawlor, Debbie
2009-01-01
This study explores associations of IQ at age 14 with adult symptoms of suicidal thoughts and attempts at age 21. Analysis was based on the Mater University Study of Pregnancy and its outcomes, an Australian prospective birth cohort study started in Brisbane Australia in 1981. We assessed associations with suicide thoughts, plans, and attempts. We…
Cortical thickness and prosocial behavior in school-age children: A population-based MRI study.
Thijssen, Sandra; Wildeboer, Andrea; Muetzel, Ryan L; Bakermans-Kranenburg, Marian J; El Marroun, Hanan; Hofman, Albert; Jaddoe, Vincent W V; van der Lugt, Aad; Verhulst, Frank C; Tiemeier, Henning; van IJzendoorn, Marinus H; White, Tonya
2015-01-01
Prosocial behavior plays an important role in establishing and maintaining relationships with others and thus may have important developmental implications. This study examines the association between cortical thickness and prosocial behavior in a population-based sample of 6- to 9-year-old children. The present study was embedded within the Generation R Study. Magnetic resonance scans were acquired from 464 children whose parents had completed the prosocial scale of the Strengths and Difficulties Questionnaire. To study the association between cortical thickness and prosocial behavior, we performed whole-brain surface-based analyses. Prosocial behavior was related to a thicker cortex in a cluster that covers part of the left superior frontal and rostral middle frontal cortex (p < .001). Gender moderated the association between prosocial behavior and cortical thickness in a cluster including the right rostral middle frontal and superior frontal cortex (p < .001) as well as in a cluster covering the right superior parietal cortex, cuneus, and precuneus (p < .001). Our results suggest that prosocial behavior is associated with cortical thickness in regions related to theory of mind (superior frontal cortex, rostral middle frontal cortex cuneus, and precuneus) and inhibitory control (superior frontal and rostral middle frontal cortex).
Yang, Xiaofei; Gao, Lin; Guo, Xingli; Shi, Xinghua; Wu, Hao; Song, Fei; Wang, Bingbo
2014-01-01
Increasing evidence has indicated that long non-coding RNAs (lncRNAs) are implicated in and associated with many complex human diseases. Despite of the accumulation of lncRNA-disease associations, only a few studies had studied the roles of these associations in pathogenesis. In this paper, we investigated lncRNA-disease associations from a network view to understand the contribution of these lncRNAs to complex diseases. Specifically, we studied both the properties of the diseases in which the lncRNAs were implicated, and that of the lncRNAs associated with complex diseases. Regarding the fact that protein coding genes and lncRNAs are involved in human diseases, we constructed a coding-non-coding gene-disease bipartite network based on known associations between diseases and disease-causing genes. We then applied a propagation algorithm to uncover the hidden lncRNA-disease associations in this network. The algorithm was evaluated by leave-one-out cross validation on 103 diseases in which at least two genes were known to be involved, and achieved an AUC of 0.7881. Our algorithm successfully predicted 768 potential lncRNA-disease associations between 66 lncRNAs and 193 diseases. Furthermore, our results for Alzheimer's disease, pancreatic cancer, and gastric cancer were verified by other independent studies. PMID:24498199
Haider, Adil H; Schneider, Eric B; Sriram, N; Dossick, Deborah S; Scott, Valerie K; Swoboda, Sandra M; Losonczy, Lia; Haut, Elliott R; Efron, David T; Pronovost, Peter J; Freischlag, Julie A; Lipsett, Pamela A; Cornwell, Edward E; MacKenzie, Ellen J; Cooper, Lisa A
2014-09-01
Recent studies have found that unconscious biases may influence physicians' clinical decision making. The objective of our study was to determine, using clinical vignettes, if unconscious race and class biases exist specifically among trauma/acute care surgeons and, if so, whether those biases impact surgeons' clinical decision making. A prospective Web-based survey was administered to active members of the Eastern Association for the Surgery of Trauma. Participants completed nine clinical vignettes, each with three trauma/acute care surgery management questions. Race Implicit Association Test (IAT) and social class IAT assessments were completed by each participant. Multivariable, ordered logistic regression analysis was then used to determine whether implicit biases reflected on the IAT tests were associated with vignette responses. In total, 248 members of the Eastern Association for the Surgery of Trauma participated. Of these, 79% explicitly stated that they had no race preferences and 55% stated they had no social class preferences. However, 73.5% of the participants had IAT scores demonstrating an unconscious preference toward white persons; 90.7% demonstrated an implicit preference toward upper social class persons. Only 2 of 27 vignette-based clinical decisions were associated with patient race or social class on univariate analyses. Multivariable analyses revealed no relationship between IAT scores and vignette-based clinical assessments. Unconscious preferences for white and upper-class persons are prevalent among trauma and acute care surgeons. In this study, these biases were not statistically significantly associated with clinical decision making. Further study of the factors that may prevent implicit biases from influencing patient management is warranted. Epidemiologic study, level II.
Ugai, Tomotaka; Matsuo, Keitaro; Sawada, Norie; Iwasaki, Motoki; Yamaji, Taiki; Shimazu, Taichi; Sasazuki, Shizuka; Inoue, Manami; Kanda, Yoshinobu; Tsugane, Shoichiro
2017-08-01
Background: The aim of this study was to investigate the association of coffee and green tea consumption and the risk of malignant lymphoma and multiple myeloma in a large-scale population-based cohort study in Japan. Methods: In this analysis, a total of 95,807 Japanese subjects (45,937 men and 49,870 women; ages 40-69 years at baseline) of the Japan Public Health Center-based Prospective Study who completed a questionnaire about their coffee and green tea consumption were followed up until December 31, 2012, for an average of 18 years. HRs and 95% confidence intervals were estimated using a Cox regression model adjusted for potential confounders as a measure of association between the risk of malignant lymphoma and multiple myeloma associated with coffee and green tea consumption at baseline. Results: During the follow-up period, a total of 411 malignant lymphoma cases and 138 multiple myeloma cases were identified. Overall, our findings showed no significant association between coffee or green tea consumption and the risk of malignant lymphoma or multiple myeloma for both sexes. Conclusions: In this study, we observed no significant association between coffee or green tea consumption and the risk of malignant lymphoma or multiple myeloma. Impact: Our results do not support an association between coffee or green tea consumption and the risk of malignant lymphoma or multiple myeloma. Cancer Epidemiol Biomarkers Prev; 26(8); 1352-6. ©2017 AACR . ©2017 American Association for Cancer Research.
Power of data mining methods to detect genetic associations and interactions.
Molinaro, Annette M; Carriero, Nicholas; Bjornson, Robert; Hartge, Patricia; Rothman, Nathaniel; Chatterjee, Nilanjan
2011-01-01
Genetic association studies, thus far, have focused on the analysis of individual main effects of SNP markers. Nonetheless, there is a clear need for modeling epistasis or gene-gene interactions to better understand the biologic basis of existing associations. Tree-based methods have been widely studied as tools for building prediction models based on complex variable interactions. An understanding of the power of such methods for the discovery of genetic associations in the presence of complex interactions is of great importance. Here, we systematically evaluate the power of three leading algorithms: random forests (RF), Monte Carlo logic regression (MCLR), and multifactor dimensionality reduction (MDR). We use the algorithm-specific variable importance measures (VIMs) as statistics and employ permutation-based resampling to generate the null distribution and associated p values. The power of the three is assessed via simulation studies. Additionally, in a data analysis, we evaluate the associations between individual SNPs in pro-inflammatory and immunoregulatory genes and the risk of non-Hodgkin lymphoma. The power of RF is highest in all simulation models, that of MCLR is similar to RF in half, and that of MDR is consistently the lowest. Our study indicates that the power of RF VIMs is most reliable. However, in addition to tuning parameters, the power of RF is notably influenced by the type of variable (continuous vs. categorical) and the chosen VIM. Copyright © 2011 S. Karger AG, Basel.
Hyperthyroidism and erectile dysfunction: a population-based case-control study.
Keller, J; Chen, Y-K; Lin, H-C
2012-01-01
Dysthyroidism has been highlighted as a common endocrine disorder associated with erectile dysfunction (ED); however, to date, no large-scale population-based study has investigated the association between hyperthyroidism and ED. This case-control study aimed to explore the association between ED and hyperthyroidism using a population-based data set. In total, 6310 adult patients who received new diagnoses of ED were recruited as cases together with 18 930 matched enrollees with no history of ED who served as controls. Conditional logistic regressions were conducted to explore the association between ED and having been previously diagnosed with hyperthyroidism. In total, 569 (2.3%) of the 25 240 sampled subjects had been diagnosed with hyperthyroidism before the index date; hyperthyroidism was found in 207 (3.3%) cases and 362 (1.90%) controls. After adjusting for potential confounding factors, the odds ratio (OR) of prior hyperthyroidism among cases was 1.64 (95% confidence interval=1.37-1.96, P<0.001) than that of controls. No association was detected between prior hyperthyroidism and ED for the 18-30, 30-39 and >70 age groups. Subjects aged between 60 and 69 years had the highest ORs for prior hyperthyroidism among cases when compared to controls (OR=1.84; 95% confidence interval=1.20-2.84; P<0.001). Our study further confirms the existence of an association between ED and prior hyperthyroidism.
Forslin, Y; Shams, S; Hashim, F; Aspelin, P; Bergendal, G; Martola, J; Fredrikson, S; Kristoffersen-Wiberg, M; Granberg, T
2017-07-01
Gadolinium-based contrast agents have been associated with lasting high T1-weighted signal intensity in the dentate nucleus and globus pallidus, with histopathologically confirmed gadolinium retention. We aimed to longitudinally investigate the relationship of multiple gadolinium-based contrast agent administrations to the Signal Intensity Index in the dentate nucleus and globus pallidus and any associations with cognitive function in multiple sclerosis. The Signal Intensity Index in the dentate nucleus and globus pallidus was retrospectively evaluated on T1-weighted MR imaging in an 18-year longitudinal cohort study of 23 patients with MS receiving multiple gadolinium-based contrast agent administrations and 23 healthy age- and sex-matched controls. Participants also underwent comprehensive neuropsychological testing. Patients with MS had a higher Signal Intensity Index in the dentate nucleus ( P < .001), but not in the globus pallidus ( P = .19), compared with non-gadolinium-based contrast agent-exposed healthy controls by an unpaired t test. Increasing numbers of gadolinium-based contrast agent administrations were associated with an increased Signal Intensity Index in the dentate nucleus (β = 0.45, P < .001) and globus pallidus (β = 0.60, P < .001). This association remained stable with corrections for the age, disease duration, and physical disability for both the dentate nucleus (β = 0.43, P = .001) and globus pallidus (β = 0.58, P < .001). An increased Signal Intensity Index in the dentate nucleus among patients with MS was associated with lower verbal fluency scores, which remained significant after correction for several aspects of disease severity (β = -0.40 P = .013). Our data corroborate previous reports of lasting gadolinium retention in brain tissues. An increased Signal Intensity Index in the dentate nucleus and globus pallidus was associated with lower verbal fluency, which does not prove causality but encourages further studies on cognition and gadolinium-based contrast agent administration. © 2017 by American Journal of Neuroradiology.
Common genetic variants in the 9p21 region and their associations with multiple tumours.
Gu, F; Pfeiffer, R M; Bhattacharjee, S; Han, S S; Taylor, P R; Berndt, S; Yang, H; Sigurdson, A J; Toro, J; Mirabello, L; Greene, M H; Freedman, N D; Abnet, C C; Dawsey, S M; Hu, N; Qiao, Y-L; Ding, T; Brenner, A V; Garcia-Closas, M; Hayes, R; Brinton, L A; Lissowska, J; Wentzensen, N; Kratz, C; Moore, L E; Ziegler, R G; Chow, W-H; Savage, S A; Burdette, L; Yeager, M; Chanock, S J; Chatterjee, N; Tucker, M A; Goldstein, A M; Yang, X R
2013-04-02
The chromosome 9p21.3 region has been implicated in the pathogenesis of multiple cancers. We systematically examined up to 203 tagging SNPs of 22 genes on 9p21.3 (19.9-32.8 Mb) in eight case-control studies: thyroid cancer, endometrial cancer (EC), renal cell carcinoma, colorectal cancer (CRC), colorectal adenoma (CA), oesophageal squamous cell carcinoma (ESCC), gastric cardia adenocarcinoma and osteosarcoma (OS). We used logistic regression to perform single SNP analyses for each study separately, adjusting for study-specific covariates. We combined SNP results across studies by fixed-effect meta-analyses and a newly developed subset-based statistical approach (ASSET). Gene-based P-values were obtained by the minP method using the Adaptive Rank Truncated Product program. We adjusted for multiple comparisons by Bonferroni correction. Rs3731239 in cyclin-dependent kinase inhibitors 2A (CDKN2A) was significantly associated with ESCC (P=7 × 10(-6)). The CDKN2A-ESCC association was further supported by gene-based analyses (Pgene=0.0001). In the meta-analyses by ASSET, four SNPs (rs3731239 in CDKN2A, rs615552 and rs573687 in CDKN2B and rs564398 in CDKN2BAS) showed significant associations with ESCC and EC (P<2.46 × 10(-4)). One SNP in MTAP (methylthioadenosine phosphorylase) (rs7023329) that was previously associated with melanoma and nevi in multiple genome-wide association studies was associated with CRC, CA and OS by ASSET (P=0.007). Our data indicate that genetic variants in CDKN2A, and possibly nearby genes, may be associated with ESCC and several other tumours, further highlighting the importance of 9p21.3 genetic variants in carcinogenesis.
Murad, Ali S; Smith, George Davey; Lewis, Sarah J; Cox, Angela; Donovan, Jenny L; Neal, David E; Hamdy, Freddie C; Martin, Richard M
2010-01-01
Epidemiological studies have identified a positive association between prostate cancer and recent onset type 2 diabetes mellitus but an increasingly inverse association with greater duration of type 2 diabetes. The mecha- nisms underlying these paradoxical associations are not clear. A single nucleotide polymorphism in the glucokinase gene, rs1799884, is associated with higher circulating plasma fasting glucose and with an increased risk of type 2 diabetes. We report a case-control study nested within the population-based Prostate testing for cancer and Treatment (ProtecT) study ISRCTN20141297. Men aged 50-69 years based around 9 UK cities were invited for a prostate specific antigen (PSA) test between June 2002 and November 2006. 1,551 cases and 2,993 controls were geno-typed. We observed suggestive evidence for a positive association between the AA variant rs1799884 and PSA-detected prostate cancer (ORAA V GG= 1.40, 95% CI= 0.95 to 2.07). There was little evidence that this effect was greater for more advanced stage/ grade cancers (ORAA V GG= 1.78, 95% CI= 0.99 to 3.21) versus less advanced cancers (ORAA V GG= 1.23, 95% CI= 0.77 to 1.94) (p for interaction = 0.33). The rs1799884 genotype was not associated with PSA concentration, suggesting that any effect on prostate cancer risk is not attributable to PSA detection bias. Our results provide suggestive evidence for a link between a genotype associated with type 2 diabetes mellitus and PSA-detected prostate cancer. We hypothesize that hyperglycaemia may be important in mediating this relationship. PMID:21537389
Hidalgo, A M; Lopes, M S; Harlizius, B; Bastiaansen, J W M
2016-04-01
Reproduction traits, such as gestation length (GLE), play an important role in dam line breeding in pigs. The objective of our study was to identify single nucleotide polymorphisms (SNPs) that are associated with GLE in two pig populations. Genotypes and deregressed breeding values were available for 2081 Dutch Landrace-based (DL) and 2301 Large White-based (LW) pigs. We identified two QTL regions for GLE, one in each population. For DL, three associated SNPs were detected in one QTL region spanning 0.52 Mbp on Sus scrofa chromosome (SSC) 2. For LW, four associated SNPs were detected in one region of 0.14 Mbp on SSC5. The region on SSC2 contains the heparin-binding EGF-like growth factor (HBEGF) gene, which promotes embryo implantation and has been described to be involved in embryo survival throughout gestation. The associated SNP can be used for marker-assisted selection in the studied populations, and further studies of the HBEGF gene are warranted to investigate its role in GLE. © 2015 Stichting International Foundation for Animal Genetics.
NASA Technical Reports Server (NTRS)
Ricks, Wendell R.; Abbott, Kathy H.
1987-01-01
To the software design community, the concern over the costs associated with a program's execution time and implementation is great. It is always desirable, and sometimes imperative, that the proper programming technique is chosen which minimizes all costs for a given application or type of application. A study is described that compared cost-related factors associated with traditional programming techniques to rule-based programming techniques for a specific application. The results of this study favored the traditional approach regarding execution efficiency, but favored the rule-based approach regarding programmer productivity (implementation ease). Although this study examined a specific application, the results should be widely applicable.
ERIC Educational Resources Information Center
Speer, Charlotte Nix
2013-01-01
Based on Yackee's (2000) study of the perceptions of chief instructional officers (CIOs) at community colleges accredited by North Central Association of Colleges and Schools (NCA), this study identified, described, and compared the perceptions of CIOs at institutions accredited by Southern Association of Colleges and Schools Commission on…
Genome-wide linkage and association analysis of cardiometabolic phenotypes in Hispanic Americans.
Hellwege, Jacklyn N; Palmer, Nicholette D; Dimitrov, Latchezar; Keaton, Jacob M; Tabb, Keri L; Sajuthi, Satria; Taylor, Kent D; Ng, Maggie C Y; Speliotes, Elizabeth K; Hawkins, Gregory A; Long, Jirong; Ida Chen, Yii-Der; Lorenzo, Carlos; Norris, Jill M; Rotter, Jerome I; Langefeld, Carl D; Wagenknecht, Lynne E; Bowden, Donald W
2017-02-01
Linkage studies of complex genetic diseases have been largely replaced by genome-wide association studies, due in part to limited success in complex trait discovery. However, recent interest in rare and low-frequency variants motivates re-examination of family-based methods. In this study, we investigated the performance of two-point linkage analysis for over 1.6 million single-nucleotide polymorphisms (SNPs) combined with single variant association analysis to identify high impact variants, which are both strongly linked and associated with cardiometabolic traits in up to 1414 Hispanics from the Insulin Resistance Atherosclerosis Family Study (IRASFS). Evaluation of all 50 phenotypes yielded 83 557 000 LOD (logarithm of the odds) scores, with 9214 LOD scores ⩾3.0, 845 ⩾4.0 and 89 ⩾5.0, with a maximal LOD score of 6.49 (rs12956744 in the LAMA1 gene for tumor necrosis factor-α (TNFα) receptor 2). Twenty-seven variants were associated with P<0.005 as well as having an LOD score >4, including variants in the NFIB gene under a linkage peak with TNFα receptor 2 levels on chromosome 9. Linkage regions of interest included a broad peak (31 Mb) on chromosome 1q with acute insulin response (max LOD=5.37). This region was previously documented with type 2 diabetes in family-based studies, providing support for the validity of these results. Overall, we have demonstrated the utility of two-point linkage and association in comprehensive genome-wide array-based SNP genotypes.
Perchlorate is a widespread environmental pollutant, and is a thyroid hormone disruptor. A previous population study based on the National Health and Nutrition Examination Survey (NHANES) 2001-2002 database showed that urinary perchlorate concentrations were associated with signi...
Fernández, Maria V.; Budde, John; Del-Aguila, Jorge L.; Ibañez, Laura; Deming, Yuetiva; Harari, Oscar; Norton, Joanne; Morris, John C.; Goate, Alison M.; Cruchaga, Carlos
2018-01-01
Gene-based tests to study the combined effect of rare variants on a particular phenotype have been widely developed for case-control studies, but their evolution and adaptation for family-based studies, especially studies of complex incomplete families, has been slower. In this study, we have performed a practical examination of all the latest gene-based methods available for family-based study designs using both simulated and real datasets. We examined the performance of several collapsing, variance-component, and transmission disequilibrium tests across eight different software packages and 22 models utilizing a cohort of 285 families (N = 1,235) with late-onset Alzheimer disease (LOAD). After a thorough examination of each of these tests, we propose a methodological approach to identify, with high confidence, genes associated with the tested phenotype and we provide recommendations to select the best software and model for family-based gene-based analyses. Additionally, in our dataset, we identified PTK2B, a GWAS candidate gene for sporadic AD, along with six novel genes (CHRD, CLCN2, HDLBP, CPAMD8, NLRP9, and MAS1L) as candidate genes for familial LOAD. PMID:29670507
Fernández, Maria V; Budde, John; Del-Aguila, Jorge L; Ibañez, Laura; Deming, Yuetiva; Harari, Oscar; Norton, Joanne; Morris, John C; Goate, Alison M; Cruchaga, Carlos
2018-01-01
Gene-based tests to study the combined effect of rare variants on a particular phenotype have been widely developed for case-control studies, but their evolution and adaptation for family-based studies, especially studies of complex incomplete families, has been slower. In this study, we have performed a practical examination of all the latest gene-based methods available for family-based study designs using both simulated and real datasets. We examined the performance of several collapsing, variance-component, and transmission disequilibrium tests across eight different software packages and 22 models utilizing a cohort of 285 families ( N = 1,235) with late-onset Alzheimer disease (LOAD). After a thorough examination of each of these tests, we propose a methodological approach to identify, with high confidence, genes associated with the tested phenotype and we provide recommendations to select the best software and model for family-based gene-based analyses. Additionally, in our dataset, we identified PTK2B , a GWAS candidate gene for sporadic AD, along with six novel genes ( CHRD, CLCN2, HDLBP, CPAMD8, NLRP9 , and MAS1L ) as candidate genes for familial LOAD.
Wright, Fred A.; Strug, Lisa J.; Doshi, Vishal K.; Commander, Clayton W.; Blackman, Scott M.; Sun, Lei; Berthiaume, Yves; Cutler, David; Cojocaru, Andreea; Collaco, J. Michael; Corey, Mary; Dorfman, Ruslan; Goddard, Katrina; Green, Deanna; Kent, Jack W.; Lange, Ethan M.; Lee, Seunggeun; Li, Weili; Luo, Jingchun; Mayhew, Gregory M.; Naughton, Kathleen M.; Pace, Rhonda G.; Paré, Peter; Rommens, Johanna M.; Sandford, Andrew; Stonebraker, Jaclyn R.; Sun, Wei; Taylor, Chelsea; Vanscoy, Lori L.; Zou, Fei; Blangero, John; Zielenski, Julian; O’Neal, Wanda K.; Drumm, Mitchell L.; Durie, Peter R.; Knowles, Michael R.; Cutting, Garry R.
2012-01-01
A combined genome-wide association and linkage study was used to identify loci causing variation in CF lung disease severity. A significant association (P=3. 34 × 10-8) near EHF and APIP (chr11p13) was identified in F508del homozygotes (n=1,978). The association replicated in F508del homozygotes (P=0.006) from a separate family-based study (n=557), with P=1.49 × 10-9 for the three-study joint meta-analysis. Linkage analysis of 486 sibling pairs from the family-based study identified a significant QTL on chromosome 20q13.2 (LOD=5.03). Our findings provide insight into the causes of variation in lung disease severity in CF and suggest new therapeutic targets for this life-limiting disorder. PMID:21602797
A measure of association for ordered categorical data in population-based studies
Nelson, Kerrie P; Edwards, Don
2016-01-01
Ordinal classification scales are commonly used to define a patient’s disease status in screening and diagnostic tests such as mammography. Challenges arise in agreement studies when evaluating the association between many raters’ classifications of patients’ disease or health status when an ordered categorical scale is used. In this paper, we describe a population-based approach and chance-corrected measure of association to evaluate the strength of relationship between multiple raters’ ordinal classifications where any number of raters can be accommodated. In contrast to Shrout and Fleiss’ intraclass correlation coefficient, the proposed measure of association is invariant with respect to changes in disease prevalence. We demonstrate how unique characteristics of individual raters can be explored using random effects. Simulation studies are conducted to demonstrate the properties of the proposed method under varying assumptions. The methods are applied to two large-scale agreement studies of breast cancer screening and prostate cancer severity. PMID:27184590
Development and Validation of the Masculine Attributes Questionnaire
Cho, Junhan; Kogan, Steven M.
2017-01-01
The present study describes the development and validation of the Masculine Attributes Questionnaire (MAQ). The purpose of this study was to develop a theoretically and empirically grounded measure of masculine attributes for sexual health research with African American young men. Consistent with Whitehead’s theory, the MAQ items were hypothesized to comprise two components representing reputation-based and respect-based attributes. The sample included 505 African American men aged 19 to 22 years (M = 20.29, SD = 1.10) living in resource-poor communities in the rural South. Convergent and discriminant validity of the MAQ were assessed by examining the associations of masculinity attributes with psychosocial factors. Criterion validity was assessed by examining the extent to which the MAQ subscales predicted sexual risk behavior outcomes. Consistent with study hypotheses, the MAQ was composed of (a) reputation-based attributes oriented toward sexual prowess, toughness, and authority-defying behavior and (b) respect-based attributes oriented toward economic independence, socially approved levels of hard work and education, and committed romantic relationships. Reputation-based attributes were associated positively with street code and negatively related to academic orientation, vocational engagement, and self-regulation, whereas respect-based attributes were associated positively with academic and vocational orientations and self-regulation. Finally, reputation-based attributes predicted sexual risk behaviors including concurrent sexual partnerships, multiple sexual partners, marijuana use, and incarceration, net of the influence of respect-based attributes. The development of the MAQ provides a new measure that permits systematic quantitative investigation of the associations between African American men’s masculinity ideology and sexual risk behavior. PMID:28413906
Development and Validation of the Masculine Attributes Questionnaire.
Cho, Junhan; Kogan, Steven M
2017-07-01
The present study describes the development and validation of the Masculine Attributes Questionnaire (MAQ). The purpose of this study was to develop a theoretically and empirically grounded measure of masculine attributes for sexual health research with African American young men. Consistent with Whitehead's theory, the MAQ items were hypothesized to comprise two components representing reputation-based and respect-based attributes. The sample included 505 African American men aged 19 to 22 years ( M = 20.29, SD = 1.10) living in resource-poor communities in the rural South. Convergent and discriminant validity of the MAQ were assessed by examining the associations of masculinity attributes with psychosocial factors. Criterion validity was assessed by examining the extent to which the MAQ subscales predicted sexual risk behavior outcomes. Consistent with study hypotheses, the MAQ was composed of (a) reputation-based attributes oriented toward sexual prowess, toughness, and authority-defying behavior and (b) respect-based attributes oriented toward economic independence, socially approved levels of hard work and education, and committed romantic relationships. Reputation-based attributes were associated positively with street code and negatively related to academic orientation, vocational engagement, and self-regulation, whereas respect-based attributes were associated positively with academic and vocational orientations and self-regulation. Finally, reputation-based attributes predicted sexual risk behaviors including concurrent sexual partnerships, multiple sexual partners, marijuana use, and incarceration, net of the influence of respect-based attributes. The development of the MAQ provides a new measure that permits systematic quantitative investigation of the associations between African American men's masculinity ideology and sexual risk behavior.
2013-01-01
This evidence-based analysis reviews relational and management continuity of care. Relational continuity refers to the duration and quality of the relationship between the care provider and the patient. Management continuity ensures that patients receive coherent, complementary, and timely care. There are 4 components of continuity of care: duration, density, dispersion, and sequence. The objective of this evidence-based analysis was to determine if continuity of care is associated with decreased health resource utilization, improved patient outcomes, and patient satisfaction. MEDLINE, EMBASE, CINAHL, the Cochrane Library, and the Centre for Reviews and Dissemination database were searched for studies on continuity of care and chronic disease published from January 2002 until December 2011. Systematic reviews, randomized controlled trials, and observational studies were eligible if they assessed continuity of care in adults and reported health resource utilization, patient outcomes, or patient satisfaction. Eight systematic reviews and 13 observational studies were identified. The reviews concluded that there is an association between continuity of care and outcomes; however, the literature base is weak. The observational studies found that higher continuity of care was frequently associated with fewer hospitalizations and emergency department visits. Three systematic reviews reported that higher continuity of care is associated with improved patient satisfaction, especially among patients with chronic conditions. Most of the studies were retrospective cross-sectional studies of large administrative databases. The databases do not capture information on trust and confidence in the provider, which is a critical component of relational continuity of care. The definitions for the selection of patients from the databases varied across studies. There is low quality evidence that: Higher continuity of care is associated with decreased health service utilization.There is insufficient evidence on the relationship of continuity of care with disease-specific outcomes.There is an association between high continuity of care and patient satisfaction, particularly among patients with chronic diseases.
ERIC Educational Resources Information Center
Maman, Suzanne; Yamanis, Thespina; Kouyoumdjian, Fiona; Watt, Melissa; Mbwambo, Jessie
2010-01-01
There is growing evidence of the association between gender-based violence and HIV from the perspective and experiences of women. The purpose of this study is to examine these associations from the perspective of young men living in Dar es Salaam, Tanzania. A community-based sample of 951 men were interviewed, of whom 360 had sex in the past 6…
Kernelized Locality-Sensitive Hashing for Fast Image Landmark Association
2011-03-24
based Simultaneous Localization and Mapping ( SLAM ). The problem, however, is that vision-based navigation techniques can re- quire excessive amounts of...up and optimizing the data association process in vision-based SLAM . Specifically, this work studies the current methods that algorithms use to...required for location identification than that of other methods. This work can then be extended into a vision- SLAM implementation to subsequently
Reed, Margot O.; Jakubovski, Ewgeni; Johnson, Jessica A.
2017-01-01
Abstract Objective: To explore predictors of 8-year school-based behavioral outcomes in attention-deficit/hyperactivity disorder (ADHD). Methods: We examined potential baseline predictors of school-based behavioral outcomes in children who completed the 8-year follow-up in the multimodal treatment study of children with ADHD. Stepwise logistic regression and receiver operating characteristic (ROC) analysis identified baseline predictors that were associated with a higher risk of truancy, school discipline, and in-school fights. Results: Stepwise regression analysis explained between 8.1% (in-school fights) and 12.0% (school discipline) of the total variance in school-based behavioral outcomes. Logistic regression identified several baseline characteristics that were associated with school-based behavioral difficulties 8 years later, including being male (associated with truancy and school discipline), African American (school discipline, in-school fights), increased conduct disorder (CD) symptoms (truancy), decreased affection from parents (school discipline), ADHD severity (in-school fights), and study site (truancy and school discipline). ROC analyses identified the most discriminative predictors of truancy, school discipline, and in-school fights, which were Aggression and Conduct Problem Scale Total score, family income, and race, respectively. Conclusions: A modest, but nontrivial portion of school-based behavioral outcomes, was predicted by baseline childhood characteristics. Exploratory analyses identified modifiable (lack of paternal involvement, lower parental knowledge of behavioral principles, and parental use of physical punishment), somewhat modifiable (income and having comorbid CD), and nonmodifiable (African American and male) factors that were associated with school-based behavioral difficulties. Future research should confirm that the associations between earlier specific parenting behaviors and poor subsequent school-based behavioral outcomes are, indeed, causally related and independent cooccurring childhood psychopathology. Future research might target increasing paternal involvement and parental knowledge of behavioral principles and reducing use of physical punishment to improve school-based behavioral outcomes in children with ADHD. PMID:28253029
Reed, Margot O; Jakubovski, Ewgeni; Johnson, Jessica A; Bloch, Michael H
2017-05-01
To explore predictors of 8-year school-based behavioral outcomes in attention-deficit/hyperactivity disorder (ADHD). We examined potential baseline predictors of school-based behavioral outcomes in children who completed the 8-year follow-up in the multimodal treatment study of children with ADHD. Stepwise logistic regression and receiver operating characteristic (ROC) analysis identified baseline predictors that were associated with a higher risk of truancy, school discipline, and in-school fights. Stepwise regression analysis explained between 8.1% (in-school fights) and 12.0% (school discipline) of the total variance in school-based behavioral outcomes. Logistic regression identified several baseline characteristics that were associated with school-based behavioral difficulties 8 years later, including being male (associated with truancy and school discipline), African American (school discipline, in-school fights), increased conduct disorder (CD) symptoms (truancy), decreased affection from parents (school discipline), ADHD severity (in-school fights), and study site (truancy and school discipline). ROC analyses identified the most discriminative predictors of truancy, school discipline, and in-school fights, which were Aggression and Conduct Problem Scale Total score, family income, and race, respectively. A modest, but nontrivial portion of school-based behavioral outcomes, was predicted by baseline childhood characteristics. Exploratory analyses identified modifiable (lack of paternal involvement, lower parental knowledge of behavioral principles, and parental use of physical punishment), somewhat modifiable (income and having comorbid CD), and nonmodifiable (African American and male) factors that were associated with school-based behavioral difficulties. Future research should confirm that the associations between earlier specific parenting behaviors and poor subsequent school-based behavioral outcomes are, indeed, causally related and independent cooccurring childhood psychopathology. Future research might target increasing paternal involvement and parental knowledge of behavioral principles and reducing use of physical punishment to improve school-based behavioral outcomes in children with ADHD.
Takagi, Daisuke; Kondo, Katsunori
2018-01-01
Background Although reducing socioeconomic inequalities in depression is necessary, their associated factors have rarely been studied. This study aimed to screen the potential contextual factors associated with income-based inequality in older adults’ depression. Methods Using data from the Japan Gerontological Evaluation Study (JAGES) of 2013, we conducted an ecological study covering 77 communities in Japan. Our measures of socioeconomic inequalities in depression were the slope index of inequalities (SII) and the relative index of inequalities (RII) of the prevalence of depressive symptoms across three income levels. We categorized available community-level factors, including socio-demographic factors, social participation, social relationships, subjective changes in the residential area, and the built environment. These indicators were aggregated from individual responses of 51,962 and 52,958 physically independent men and women, respectively, aged 65 years or more. We performed multiple linear regression analyses to explore factors with statistical significance of a two-tailed P-value less than 0.05. Results Factors associated with shallower gradients in depression for men included higher participation in local activities and reception or provision of social support, which did not show significant association among women. Perceived increases in unemployment and economic inequalities were positively associated with larger inequalities in both genders (P < 0.05). The built environment did not indicate any significant association. Conclusions A community environment fostering social activities and relationships might be associated with smaller income-based inequalities in depression. There is a need for more deterministic studies for planning of effective community interventions to address socioeconomic inequalities in depression. PMID:29093358
Association of Transcription Factor Gene LMX1B with Autism
Yamada, Kazuo; Iwayama, Yoshimi; Toyota, Tomoko; Tsujii, Masatsugu; Iwata, Yasuhide; Suzuki, Katsuaki; Matsuzaki, Hideo; Iwata, Keiko; Sugiyama, Toshiro; Yoshikawa, Takeo; Mori, Norio
2011-01-01
Multiple lines of evidence suggest a serotoninergic dysfunction in autism. The role of LMX1B in the development and maintenance of serotoninergic neurons is well known. In order to examine the role, if any, of LMX1B with autism pathophysiology, a trio-based SNP association study using 252 family samples from the AGRE was performed. Using pair-wise tagging method, 24 SNPs were selected from the HapMap data, based on their location and minor allele frequency. Two SNPs (rs10732392 and rs12336217) showed moderate association with autism with p values 0.018 and 0.022 respectively in transmission disequilibrium test. The haplotype AGCGTG also showed significant association (p = 0.008). Further, LMX1B mRNA expressions were studied in the postmortem brain tissues of autism subjects and healthy controls samples. LMX1B transcripts was found to be significantly lower in the anterior cingulate gyrus region of autism patients compared with controls (p = 0.049). Our study suggests a possible role of LMX1B in the pathophysiology of autism. Based on previous reports, it is likely to be mediated through a seretoninergic mechanism. This is the first report on the association of LMX1B with autism, though it should be viewed with some caution considering the modest associations we report. PMID:21901133
de Seymour, Jamie; Chia, Airu; Colega, Marjorelee; Jones, Beatrix; McKenzie, Elizabeth; Shirong, Cai; Godfrey, Keith; Kwek, Kenneth; Saw, Seang-Mei; Conlon, Cathryn; Chong, Yap-Seng; Baker, Philip; Chong, Mary F F
2016-09-20
Gestational Diabetes Mellitus (GDM) is associated with an increased risk of perinatal morbidity and long term health issues for both the mother and offspring. Previous research has demonstrated associations between maternal diet and GDM development, but evidence in Asian populations is limited. The objective of our study was to examine the cross-sectional relationship between maternal dietary patterns during pregnancy and the risk of GDM in a multi-ethnic Asian cohort. Maternal diet was ascertained using 24-h dietary recalls from participants in the Growing up in Singapore towards healthy outcomes (GUSTO) study-a prospective mother-offspring cohort, and GDM was diagnosed according to 1999 World Health Organisation guidelines. Dietary patterns were identified using factor analysis, and multivariate regression analyses performed to assess the association with GDM. Of 909 participants, 17.6% were diagnosed with GDM. Three dietary patterns were identified: a vegetable-fruit-rice-based-diet, a seafood-noodle-based-diet and a pasta-cheese-processed-meat-diet. After adjusting for confounding variables, the seafood-noodle-based-diet was associated with a lower likelihood of GDM (Odds Ratio (95% Confidence Interval)) = 0.74 (0.59, 0.93). The dietary pattern found to be associated with GDM in our study was substantially different to those reported previously in Western populations.
Shim, Hyunju; Ailshire, Jennifer; Zelinski, Elizabeth; Crimmins, Eileen
2018-05-25
The use of the internet for health information among older people is receiving increasing attention, but how it is associated with chronic health conditions and health service use at concurrent and subsequent time points using nationally representative data is less known. This study aimed to determine whether the use of the internet for health information is associated with health service utilization and whether the association is affected by specific health conditions. The study used data collected in a technology module from a nationally representative sample of community-dwelling older Americans aged 52 years and above from the 2012 Health and Retirement Study (HRS; N=991). Negative binomial regressions were used to examine the association between use of Web-based health information and the reported health service uses in 2012 and 2014. Analyses included additional covariates adjusting for predisposing, enabling, and need factors. Interactions between the use of the internet for health information and chronic health conditions were also tested. A total of 48.0% (476/991) of Americans aged 52 years and above reported using Web-based health information. The use of Web-based health information was positively associated with the concurrent reports of doctor visits, but not over 2 years. However, an interaction of using Web-based health information with diabetes showed that users had significantly fewer doctor visits compared with nonusers with diabetes at both times. The use of the internet for health information was associated with higher health service use at the concurrent time, but not at the subsequent time. The interaction between the use of the internet for health information and diabetes was significant at both time points, which suggests that health-related internet use may be associated with fewer doctor visits for certain chronic health conditions. Results provide some insight into how Web-based health information may provide an alternative health care resource for managing chronic conditions. ©Hyunju Shim, Jennifer Ailshire, Elizabeth Zelinski, Eileen Crimmins. Originally published in the Journal of Medical Internet Research (http://www.jmir.org), 25.05.2018.
Neuropathology of dementia in Parkinson's disease: a prospective, community-based study.
Aarsland, Dag; Perry, Robert; Brown, Andrew; Larsen, Jan P; Ballard, Clive
2005-11-01
Twenty-two patients with Parkinson's disease drawn from a community-based study were followed prospectively until their deaths. Even though 18 patients had dementia, none fulfilled Braak and Braak or The National Institute on Aging and Ronald and Nancy Reagan Institute of the Alzheimer's Association, whereas all patients had limbic or neocortical Lewy body disease. The Lewy body score and Braak and Braak stage were significantly associated with the rate of cognitive decline, but only the Lewy body score was associated with the rate of cognitive decline in the univariate analyses. This study strongly suggests that Lewy body disease is the main substrate driving the progression of cognitive impairment in Parkinson's disease.
Gender-Based Power and Couples' HIV Risk in Uttar Pradesh and Uttarakhand, North India
Agrawal, Alpna; Bloom, Shelah S.; Suchindran, Chirayath; Curtis, Sian; Angeles, Gustavo
2015-01-01
Context Gender inequality is a long-recognized driver of the HIV epidemic. However, few studies have investigated the association between gender-based power and HIV risk in India, which has the world's third largest HIV epidemic. Methods Population-based data collected in 2003 from 3,385 couples residing in Uttar Pradesh and Uttarakhand, North India, were used to examine associations between gender-based power (wife's autonomy and husband's inequitable gender attitudes) and indicators of couples' HIV risk (whether the husband had had premarital sex with someone other than his eventual spouse, extramarital sex in the past year or STI symptoms in the past year). Structural equation modeling was used to create composite variables for the gender-based power measures and test their associations with HIV risk measures. Results Twenty-four percent of husbands had had premarital sex, 7% had had extramarital sex in the past year and 6% had had STI symptoms in the past year. Structural equation models indicated that wives who reported higher levels of autonomy were less likely than other wives to have husbands who had had extramarital sex in the past year (direct association) and STI symptoms in the past year (indirect association). Moreover, husbands who endorsed more inequitable gender attitudes were more likely than others to report having had premarital sex with someone other than their spouse, which in turn was associated with having had extramarital sex and STI symptoms in the past year. Conclusions If the associations identified in this study reflect a causal relationship between gender-based power and HIV risk behavior, then HIV prevention programs that successfully address inequitable gender roles may reduce HIV risks in North India. PMID:25565347
Gender-based power and couples' HIV risk in Uttar Pradesh and Uttarakhand, north India.
Agrawal, Alpna; Bloom, Shelah S; Suchindran, Chirayath; Curtis, Siân; Angeles, Gustavo
2014-12-01
Gender inequality is a long-recognized driver of the HIV epidemic. However, few studies have investigated the association between gender-based power and HIV risk in India, which has the world's third largest HIV epidemic. Population-based data collected in 2003 from 3,385 couples residing in Uttar Pradesh and Uttarakhand, North India, were used to examine associations between gender-based power (wife's autonomy and husband's inequitable gender attitudes) and indicators of couples' HIV risk (whether the husband had had premarital sex with someone other than his eventual spouse, extramarital sex in the past year or STI symptoms in the past year). Structural equation modeling was used to create composite variables for the gender-based power measures and test their associations with HIV risk measures. Twenty-four percent of husbands had had premarital sex, 7% had had extramarital sex in the past year and 6% had had STI symptoms in the past year. Structural equation models indicated that wives who reported higher levels of autonomy were less likely than other wives to have husbands who had had extramarital sex in the past year (direct association) or STI symptoms in the past year (indirect association). Moreover, husbands who endorsed more inequitable gender attitudes were more likely than others to report having had premarital sex with someone other than their spouse, which in turn was associated with having had extramarital sex and STI symptoms in the past year. If the associations identified in this study reflect a causal relationship between gender-based power and HIV risk behavior, then HIV prevention programs that successfully address inequitable gender roles may reduce HIV risks in North India.
Chen, Xiaohua; Du, Hua; Liu, Binjian; Zou, Li; Chen, Wei; Yang, Yang; Zhu, Ying; Gong, Yajie; Tian, Jianbo; Li, Feng; Zhong, Shan
2015-01-01
Aberrant alternative splicing included alterations in components of the mRNA splicing machinery often occurred in colon cancer. However, the role of SF3A1, one key component of the mRNA splicing machinery, on colorectal cancer (CRC) risk was still not elucidated. We performed a hospital-based case-control study containing 801 CRC patients and 817 cancer-free controls to examine the association between SF3A1 polymorphisms and CRC risk in a Chinese population. Four candidate SNPs (rs10376, rs5753073, rs2839998 and rs2074733) were selected based on bioinformatics analysis and previous findings. The results showed no significant associations between these SNPs and CRC risk (P > 0.05). Besides, the stratified analysis based on the smoking and alcohol use status obtained no statistically significant results. Our study was the first one to investigate the association between SF3A1 polymorphisms and CRC risk. The results suggested these four SNPs in SF3A1 were not associated with CRC risk in a Chinese population, however, further more studies are needed to confirm our findings.
Yoshikawa, Munemitsu; Yamashiro, Kenji; Miyake, Masahiro; Oishi, Maho; Akagi-Kurashige, Yumiko; Kumagai, Kyoko; Nakata, Isao; Nakanishi, Hideo; Oishi, Akio; Gotoh, Norimoto; Yamada, Ryo; Matsuda, Fumihiko; Yoshimura, Nagahisa
2014-10-21
We investigated the association between refractive error in a Japanese population and myopia-related genes identified in two recent large-scale genome-wide association studies. Single-nucleotide polymorphisms (SNPs) in 51 genes that were reported by the Consortium for Refractive Error and Myopia and/or the 23andMe database were genotyped in 3712 healthy Japanese volunteers from the Nagahama Study using HumanHap610K Quad, HumanOmni2.5M, and/or HumanExome Arrays. To evaluate the association between refractive error and recently identified myopia-related genes, we used three approaches to perform quantitative trait locus analyses of mean refractive error in both eyes of the participants: per-SNP, gene-based top-SNP, and gene-based all-SNP analyses. Association plots of successfully replicated genes also were investigated. In our per-SNP analysis, eight myopia gene associations were replicated successfully: GJD2, RASGRF1, BICC1, KCNQ5, CD55, CYP26A1, LRRC4C, and B4GALNT2.Seven additional gene associations were replicated in our gene-based analyses: GRIA4, BMP2, QKI, BMP4, SFRP1, SH3GL2, and EHBP1L1. The signal strength of the reported SNPs and their tagging SNPs increased after considering different linkage disequilibrium patterns across ethnicities. Although two previous studies suggested strong associations between PRSS56, LAMA2, TOX, and RDH5 and myopia, we could not replicate these results. Our results confirmed the significance of the myopia-related genes reported previously and suggested that gene-based replication analyses are more effective than per-SNP analyses. Our comparison with two previous studies suggested that BMP3 SNPs cause myopia primarily in Caucasian populations, while they may exhibit protective effects in Asian populations. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.
A systematic review of diet quality indices in relation to obesity.
Asghari, Golaleh; Mirmiran, Parvin; Yuzbashian, Emad; Azizi, Fereidoun
2017-04-01
Tools, called 'diet/dietary quality indices', evaluate the level of adherence to a specified pattern or a set of recommendations in populations. Yet, there are no review studies providing unanimous comprehensive results of dietary indices on obesity. We reviewed observational studies, focusing on the association of diet quality indices with general obesity or abdominal obesity in adults. We systematically conducted a search in all English language publications available on MEDLINE, ISI Web of Science and Embase between January 1990 and January 2016. Among the wide variety of indices and weight-derived variables, studies with dietary-guideline-based indices and mean changes for weight gain or OR for general obesity and abdominal obesity were selected. From a total of 479 articles, thirty-four studies were selected for the current review, ten of which had prospective designs and twenty-six had cross-sectional designs. Associations of weight status with the original Healthy Eating Index (HEI) and other versions of the HEI including alternative HEI, HEI-2005 and HEI-05 were examined in thirteen studies, with ten studies revealing significant associations. The HEI was a better general obesity predictor in men than in women. Diet scores lacked efficacy in assessing overall diet quality and demonstrated no significant findings in developing countries, in comparison with US populations. In addition, indices based on dietary diversity scores were directly associated with weight gain. Despite the insufficient evidence to draw definitive conclusions about the relation between dietary indices and obesity, HEI was found to be inversely associated with obesity and diversity-based indices were positively associated with obesity.
Association of Parkinson Disease Risk Loci With Mild Parkinsonian Signs in Older Persons
Shulman, Joshua M.; Yu, Lei; Buchman, Aron S.; Evans, Denis A.; Schneider, Julie A.; Bennett, David A.; De Jager, Philip L.
2014-01-01
IMPORTANCE Parkinsonian motor signs are common in the aging population and are associated with adverse health outcomes. Compared with Parkinson disease (PD), potential genetic risk factors for mild parkinsonian signs have been largely unexplored. OBJECTIVE To determine whether PD susceptibility loci are associated with parkinsonism or substantia nigra pathology in a large community-based cohort of older persons. DESIGN, SETTING, AND PARTICIPANTS Eighteen candidate single-nucleotide polymorphisms from PD genome-wide association studies were evaluated in a joint clinicopathologic cohort. Participants included 1698 individuals and a nested autopsy collection of 821 brains from the Religious Orders Study and the Rush Memory and Aging Project, 2 prospective community-based studies. MAIN OUTCOMES AND MEASURES The primary outcomes were a quantitative measure of global parkinsonism or component measures of bradykinesia, rigidity, tremor, and gait impairment that were based on the motor Unified Parkinson’s Disease Rating Scale. In secondary analyses, we examined associations with additional quantitative motor traits and postmortem indices, including substantia nigra Lewy bodies and neuronal loss. RESULTS Parkinson disease risk alleles in the MAPT (rs2942168; P = .0006) and CCDC62 (rs12817488; P = .004) loci were associated with global parkinsonism, and these associations remained after exclusion of patients with a PD diagnosis. Based on motor Unified Parkinson’s Disease Rating Scale subscores, MAPT (P = .0002) and CCDC62 (P = .003) were predominantly associated with bradykinesia, and we further discovered associations between SREBF1 (rs11868035; P = .005) and gait impairment, SNCA (rs356220; P = .04) and rigidity, and GAK (rs1564282; P = .03) and tremor. In the autopsy cohort, only NMD3 (rs34016896; P = .03) was related to nigral neuronal loss, and no associations were detected with Lewy bodies. CONCLUSIONS AND RELEVANCE In addition to the established link to PD susceptibility, our results support a broader role for several loci in the development of parkinsonian motor signs and nigral pathology in older persons. PMID:24514572
Wain, Louise V.; Pedroso, Inti; Landers, John E.; Breen, Gerome; Shaw, Christopher E.; Leigh, P. Nigel; Brown, Robert H.
2009-01-01
Background The genetic contribution to sporadic amyotrophic lateral sclerosis (ALS) has not been fully elucidated. There are increasing efforts to characterise the role of copy number variants (CNVs) in human diseases; two previous studies concluded that CNVs may influence risk of sporadic ALS, with multiple rare CNVs more important than common CNVs. A little-explored issue surrounding genome-wide CNV association studies is that of post-calling filtering and merging of raw CNV calls. We undertook simulations to define filter thresholds and considered optimal ways of merging overlapping CNV calls for association testing, taking into consideration possibly overlapping or nested, but distinct, CNVs and boundary estimation uncertainty. Methodology and Principal Findings In this study we screened Illumina 300K SNP genotyping data from 730 ALS cases and 789 controls for copy number variation. Following quality control filters using thresholds defined by simulation, a total of 11321 CNV calls were made across 575 cases and 621 controls. Using region-based and gene-based association analyses, we identified several loci showing nominally significant association. However, the choice of criteria for combining calls for association testing has an impact on the ranking of the results by their significance. Several loci which were previously reported as being associated with ALS were identified here. However, of another 15 genes previously reported as exhibiting ALS-specific copy number variation, only four exhibited copy number variation in this study. Potentially interesting novel loci, including EEF1D, a translation elongation factor involved in the delivery of aminoacyl tRNAs to the ribosome (a process which has previously been implicated in genetic studies of spinal muscular atrophy) were identified but must be treated with caution due to concerns surrounding genomic location and platform suitability. Conclusions and Significance Interpretation of CNV association findings must take into account the effects of filtering and combining CNV calls when based on early genome-wide genotyping platforms and modest study sizes. PMID:19997636
Kuo, Ho-Chang; Wong, Henry Sung-Ching; Chang, Wei-Pin; Chen, Ben-Kuen; Wu, Mei-Shin; Yang, Kuender D; Hsieh, Kai-Sheng; Hsu, Yu-Wen; Liu, Shih-Feng; Liu, Xiao; Chang, Wei-Chiao
2017-10-01
Intravenous immunoglobulin (IVIG) is the treatment of choice in Kawasaki disease (KD). IVIG is used to prevent cardiovascular complications related to KD. However, a proportion of KD patients have persistent fever after IVIG treatment and are defined as IVIG resistant. To develop a risk scoring system based on genetic markers to predict IVIG responsiveness in KD patients, a total of 150 KD patients (126 IVIG responders and 24 IVIG nonresponders) were recruited for this study. A genome-wide association analysis was performed to compare the 2 groups and identified risk alleles for IVIG resistance. A weighted genetic risk score was calculated by the natural log of the odds ratio multiplied by the number of risk alleles. Eleven single-nucleotide polymorphisms were identified by genome-wide association study. The KD patients were categorized into 3 groups based on their calculated weighted genetic risk score. Results indicated a significant association between weighted genetic risk score (groups 3 and 4 versus group 1) and the response to IVIG (Fisher's exact P value 4.518×10 - 03 and 8.224×10 - 10 , respectively). This is the first weighted genetic risk score study based on a genome-wide association study in KD. The predictive model integrated the additive effects of all 11 single-nucleotide polymorphisms to provide a prediction of the responsiveness to IVIG. © 2017 The Authors.
Kotemori, Ayaka; Ishihara, Junko; Zha, Ling; Liu, Rong; Sawada, Norie; Iwasaki, Motoki; Sobue, Tomotaka; Tsugane, Shoichiro
2018-03-01
Acrylamide forms during cooking and is classified as a probable carcinogen in humans, mandating the need for epidemiological studies of dietary acrylamide and cancers. However, the risk of dietary acrylamide exposure to breast cancer in Japanese women has not been assessed. We investigated the association between dietary acrylamide intake and risk of breast cancer in the Japan Public Health Center-based Prospective Study. The present study included 48 910 women aged 45-74 years who responded to a 5-year follow-up survey questionnaire. Dietary acrylamide intake was assessed using a validated food frequency questionnaire. Cox proportional hazards regression models were used to estimate hazard ratios and 95% confidence intervals. During an average of 15.4 years of follow up, 792 breast cancers were diagnosed. Energy-adjusted dietary acrylamide intake was not associated with the risk of breast cancer (adjusted hazard ratio for highest versus lowest tertile = .95, 95% confidence intervals: 0.79-1.14, P-trend = .58). Further, no significant associations were observed when stratified analyses were conducted by smoking status, coffee consumption, alcohol consumption, body mass index, menopausal status, estrogen receptor status, and progesterone receptor status. In conclusion, dietary acrylamide intake was not associated with the risk of breast cancer in this population-based prospective cohort study of Japanese women. © 2017 The Authors. Cancer Science published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association.
Medical augmentation of labor and the risk of ADHD in offspring: a population-based study.
Henriksen, Lonny; Wu, Chun Sen; Secher, Niels Jørgen; Obel, Carsten; Juhl, Mette
2015-03-01
Oxytocin for labor augmentation is widely used in obstetric care in Western countries. Two recent, smaller studies found opposing results regarding the association between prenatal exposure to oxytocin for labor augmentation and attention-deficit/hyperactivity disorder (ADHD). In Denmark, oxytocin is the medication used for nearly all medical augmentations of labor, and we examined the association between medical augmentation of labor and ADHD in a large cohort study based on national register data. All singletons born after spontaneous onset of labor in Denmark between 2000 and 2008 (N = 546 146) were included in the study. Data from the Danish Medical Birth Registry on medical augmentation of labor (yes/no) were used to identify exposed children. ADHD was defined based on the diagnostic codes of International Classification of Diseases, 10th Revision, for hyperkinetic disorder and information on dispensed ADHD medication. A multivariate proportional hazards regression model was used to test the association. Among 546 146 deliveries, 26% included medical augmentation of labor, and 0.9% of the children were identified as having ADHD (n = 4617). We found no association between augmentation of labor and ADHD in the offspring (hazard ratio: 1.05 [95% confidence interval: 0.98-1.13]). Our study does not support an association between medical augmentation of labor and ADHD in the child. Copyright © 2015 by the American Academy of Pediatrics.
Miller, I M; Johansen, M E; Mogensen, U B; Zarchi, K; Ellervik, C; Jemec, G B
2016-08-01
Chronic inflammatory diseases may be associated with anaemia of inflammation. Hidradenitis suppurativa is a chronic inflammatory dermatological disease associated with metabolic comorbidities, low quality of life and fatigue. Anaemia may cause fatigue, and it has been hypothesized that HS-related fatigue may be partly due to anaemia. Our objective was to investigate a possible association between HS and anaemia. We performed a hospital-based and population-based cross-sectional study investigating the red blood cell profile, i.e. haemoglobin. We identified a total of 32 hospital HS individuals, 430 population HS individuals and 20,780 population non-HS control individuals. The age-sex-smoking-adjusted analyses showed no differences in the haemoglobin level of the HS groups vs. the control group. Analyses of the anaemic subgroup of HS individuals revealed that 60% had normocytic anaemia and 40% microcytic anaemia, in concordance with anaemia of inflammation. In contrast to our hypothesis, this study showed that HS is not associated with anaemia. Thus, anaemia may not be the cause of the described fatigue in HS patients. Furthermore, the results indicate that if an HS patient does suffer from anaemia it is most likely to be normocytic or microcytic and thus compatible with anaemia seen in other chronic inflammatory disorders. © 2015 European Academy of Dermatology and Venereology.
Chen, Yu-ming; Liu, Yan; Zhou, Rui-fen; Chen, Xiao-ling; Wang, Cheng; Tan, Xu-ying; Wang, Li-jun; Zheng, Rui-dan; Zhang, Hong-wei; Ling, Wen-hua; Zhu, Hui-lian
2016-01-08
Many studies suggest that trimethylamine-N-oxide (TMAO), a gut-flora-dependent metabolite of choline, contributes to the risk of cardiovascular diseases, but little is known for non-alcoholic fatty liver disease (NAFLD). We examined the association of circulating TMAO, choline and betaine with the presence and severity of NAFLD in Chinese adults. We performed a hospital-based case-control study (CCS) and a cross-sectional study (CSS). In the CCS, we recruited 60 biopsy-proven NAFLD cases and 35 controls (18-60 years) and determined serum concentrations of TMAO, choline and betaine by HPLC-MS/MS. For the CSS, 1,628 community-based adults (40-75 years) completed the blood tests and ultrasonographic NAFLD evaluation. In the CCS, analyses of covariance showed adverse associations of ln-transformed serum levels of TMAO, choline and betaine/choline ratio with the scores of steatosis and total NAFLD activity (NAS) (all P-trend <0.05). The CSS revealed that a greater severity of NAFLD was independently correlated with higher TMAO but lower betaine and betaine/choline ratio (all P-trend <0.05). No significant choline-NAFLD association was observed. Our findings showed adverse associations between the circulating TMAO level and the presence and severity of NAFLD in hospital- and community-based Chinese adults, and a favorable betaine-NAFLD relationship in the community-based participants.
Chen, Yu-ming; Liu, Yan; Zhou, Rui-fen; Chen, Xiao-ling; Wang, Cheng; Tan, Xu-ying; Wang, Li-jun; Zheng, Rui-dan; Zhang, Hong-wei; Ling, Wen-hua; Zhu, Hui-lian
2016-01-01
Many studies suggest that trimethylamine-N-oxide (TMAO), a gut-flora-dependent metabolite of choline, contributes to the risk of cardiovascular diseases, but little is known for non-alcoholic fatty liver disease (NAFLD). We examined the association of circulating TMAO, choline and betaine with the presence and severity of NAFLD in Chinese adults. We performed a hospital-based case-control study (CCS) and a cross-sectional study (CSS). In the CCS, we recruited 60 biopsy-proven NAFLD cases and 35 controls (18–60 years) and determined serum concentrations of TMAO, choline and betaine by HPLC-MS/MS. For the CSS, 1,628 community-based adults (40-75 years) completed the blood tests and ultrasonographic NAFLD evaluation. In the CCS, analyses of covariance showed adverse associations of ln-transformed serum levels of TMAO, choline and betaine/choline ratio with the scores of steatosis and total NAFLD activity (NAS) (all P-trend <0.05). The CSS revealed that a greater severity of NAFLD was independently correlated with higher TMAO but lower betaine and betaine/choline ratio (all P-trend <0.05). No significant choline-NAFLD association was observed. Our findings showed adverse associations between the circulating TMAO level and the presence and severity of NAFLD in hospital- and community-based Chinese adults, and a favorable betaine-NAFLD relationship in the community-based participants. PMID:26743949
Fortunato, Christine K.; Gatzke-Kopp, Lisa M.; Ram, Nilam
2015-01-01
Internalizing and externalizing disorders are often, though inconsistently in studies of young children, associated with low baseline levels of respiratory sinus arrhythmia (RSA). RSA is thus considered to reflect the capacity for flexible and regulated affective reactivity and a general propensity for psychopathology. However, studies assessing RSA reactivity to emotional challenges tend to report more consistent associations with internalizing than with externalizing disorders, although it is unclear whether this is a function of the type of emotion challenges used. In the present study, we examined whether baseline RSA was associated with internalizing and/or externalizing severity in a sample of 273 young children (ages 5–6) with elevated symptoms of psychopathology. Following motivation-based models of emotion, we also tested whether RSA reactivity during withdrawal-based (fear, sadness) and approach-based (happiness, anger) emotion inductions was differentially associated with internalizing and externalizing symptoms, respectively. Baseline RSA was not associated with externalizing or internalizing symptom severity. However, RSA reactivity to specific emotional challenges was associated differentially with each symptom domain. As expected, internalizing symptom severity was associated with greater RSA withdrawal (increased arousal) during fearful and sad film segments. Conversely, externalizing symptom severity was related to blunted RSA withdrawal during a happy film segment. The use of theoretically derived stimuli may be important in characterizing the nature of the deficits in emotion processing that differentiate the internalizing and externalizing domains of psychopathology. PMID:23233122
Association between weight perception and socioeconomic status among adults in the Seychelles.
Alwan, Heba; Viswanathan, Bharathi; Williams, Julita; Paccaud, Fred; Bovet, Pascal
2010-08-09
Few studies have examined the association between weight perception and socioeconomic status (SES) in sub-Saharan Africa, and none made this association based on education, occupation and income simultaneously. Based on a population-based survey (n = 1255) in the Seychelles, weight and height were measured and self-perception of one's own body weight, education, occupation, and income were assessed by a questionnaire. Individuals were considered to have appropriate weight perception when their self-perceived weight matched their actual body weight. The prevalence of overweight and obesity was 35% and 28%, respectively. Multivariate analysis among overweight/obese persons showed that appropriate weight perception was directly associated with actual weight, education, occupation and income, and that it was more frequent among women than among men. In a model using all three SES indicators together, only education (OR = 2.5; 95% CI: 1.3-4.8) and occupation (OR = 2.3; 95% CI: 1.2-4.5) were independently associated with appropriate perception of being overweight. The OR reached 6.9 [95% CI: 3.4-14.1] when comparing the highest vs. lowest categories of SES based on a score including all SES indicators and 6.1 [95% CI: 3.0-12.1] for a score based on education and occupation. Appropriately perceiving one's weight as too high was associated with different SES indicators, female sex and being actually overweight. These findings suggest means and targets for clinical and population-based interventions for weight control. Further studies should examine whether these differences in weight perception underlie differences in cognitive skills, healthy weight norms, or body size ideals.
Sunita, Mohan; Singh, Arvind Kumar; Rogye, Ashwini; Sonawane, Manish; Gaonkar, Ravina; Srinivasan, Radhika; Natarajan, Sundaram; Stevens, Fred C J; Scherpbier, A J J A; Kumaramanickavel, Govindasamy; McCarty, Catherine
2017-10-01
The aims of the study were to estimate the prevalence of diabetic retinopathy (DR) and enumerate history-based risk factors in the urban slums of Western India. The population-based study was conducted in seven wards of Mumbai urban slums, where we screened 6569 subjects of ≥ 40 years age, with a response rate of 98.4%, for type 2 diabetes mellitus (T2DM) based on American Diabetes Association criteria. All subjects with T2DM underwent dilated 30° seven-field stereo-fundus-photography for DR severity grading based on modified Airlie House classification. A multivariate logistic regression model was used to assess the correlation of DR with the history-based risk factors. The prevalence of DR in the general population of Mumbai urban slums was 1.41% (95% CI 0.59-2.23) and in the T2DM population it was 15.37% (95% CI 8.87-21.87). The positive associations with DR were the longer duration of DM (≥ 11 years: OR, 12.77; 95% CI 2.93-55.61) and male gender (OR, 2.05; 95% CI 1.08-3.89); increasing severity of retinopathy was also significantly associated with longer duration of DM (p < 0.001). However, history of hypertension, family history of DM, consanguineous marriage and migration status were not associated with DR in the study population. The prevalence of DR in the general population and T2DM subjects were 1.41% and 15.37% respectively in Mumbai urban slums. Duration of DM and male gender were significantly associated with DR. The slums in Western India show the trends of urban lifestyle influences similar to the rest of urban India.
Saliba, Walid; Rennert, Hedy S; Gronich, Naomi; Gruber, Stephen B; Rennert, Gad
2018-01-01
An association between atrial fibrillation (AF) and risk of cancer has been suggested in several studies, including prospective cohort studies. However, the magnitude and the temporal nature of this association remain unclear. Data from two large prospective population-based case-control studies, the Molecular Epidemiology of Colorectal Cancer (MECC, n = 8,383) and the Breast Cancer in Northern Israel Study (BCINIS, n = 11,608), were used to better understand the nature and temporality of a possible association between cancer diagnosis and AF events before and after cancer diagnosis. A case-control study approach was employed to study prior AF as a risk factor for cancer, and a cohort study approach was employed to study incident cancer as a risk factor for AF. AF was associated with a significant reduced odds of cancer as reflected in the case-control approach, with an adjusted OR = 0.77 (95% CI, 0.65-0.91), while cancer was not found to be significantly associated with elevated risk of AF in the cohort approach, with an adjusted HR = 1.10 (0.98-1.23). The immediate period (90 days) after an AF event was associated with a 1.85 times increased risk of cancer, and the immediate period after the diagnosis of cancer was associated with a 3.4 fold increased risk of AF. These findings probably reflect both the effect of acute transient conditions associated with new cancer diagnosis and detection bias. Similar results were identified with colorectal and breast cancer cases. Atrial fibrillation of longer than 90 days duration is associated with reduced odds of new cancer diagnosis. The results of this study suggest that an association observed in prior research may be due to instances related to cancer diagnosis and detection bias rather than a causal relationship. However, there may be bias in the sampling and residual confounding that distort the associations.
Zhou, Dan; Zhang, Dandan; Sun, Xiaohui; Li, Zhiqiang; Ni, Yaqin; Shan, Zhongyan; Li, Hong; Liu, Chengguo; Zhang, Shuai; Liu, Yi; Zheng, Ruizhi; Pan, Feixia; Zhu, Yimin; Shi, Yongyong; Lai, Maode
2018-06-01
Although numbers of genome-wide association studies (GWAS) have been performed for serum lipid levels, limited heritability has been explained. Studies showed that combining data from GWAS and expression quantitative trait loci (eQTLs) signals can both enhance the discovery of trait-associated SNPs and gain a better understanding of the mechanism. We performed an annotation-based, multistage genome-wide screening for serum-lipid-level-associated loci in totally 6863 Han Chinese. A serum high-density lipoprotein cholesterol (HDL-C) associated variant rs1880118 (hg19 chr7:g. 6435220G>C) was replicated (P combined = 1.4E-10). rs1880118 was associated with DAGLB (diacylglycerol lipase, beta) expression levels in subcutaneous adipose tissue (P = 5.9E-42) and explained 47.7% of the expression variance. After the replication, an active segment covering variants tagged by rs1880118 near 5' of DAGLB was annotated using histone modification and transcription factor binding signals. The luciferase report assay revealed that the segment containing the minor alleles showed increased transcriptional activity compared with segment contains the major alleles, which was consistent with the eQTL analyses. The expression-trait association tests indicated the association between the DAGLB and serum HDL-C levels using gene-based approaches called "TWAS" (P = 3.0E-8), "SMR" (P = 1.1E-4), and "Sherlock" (P = 1.6E-6). To summarize, we identified a novel HDL-C-associated variant which explained nearly half of the expression variance of DAGLB. Integrated analyses established a genotype-gene-phenotype three-way association and expanded our knowledge of DAGLB in lipid metabolism.
Zhao, Ni; Chen, Jun; Carroll, Ian M.; Ringel-Kulka, Tamar; Epstein, Michael P.; Zhou, Hua; Zhou, Jin J.; Ringel, Yehuda; Li, Hongzhe; Wu, Michael C.
2015-01-01
High-throughput sequencing technology has enabled population-based studies of the role of the human microbiome in disease etiology and exposure response. Distance-based analysis is a popular strategy for evaluating the overall association between microbiome diversity and outcome, wherein the phylogenetic distance between individuals’ microbiome profiles is computed and tested for association via permutation. Despite their practical popularity, distance-based approaches suffer from important challenges, especially in selecting the best distance and extending the methods to alternative outcomes, such as survival outcomes. We propose the microbiome regression-based kernel association test (MiRKAT), which directly regresses the outcome on the microbiome profiles via the semi-parametric kernel machine regression framework. MiRKAT allows for easy covariate adjustment and extension to alternative outcomes while non-parametrically modeling the microbiome through a kernel that incorporates phylogenetic distance. It uses a variance-component score statistic to test for the association with analytical p value calculation. The model also allows simultaneous examination of multiple distances, alleviating the problem of choosing the best distance. Our simulations demonstrated that MiRKAT provides correctly controlled type I error and adequate power in detecting overall association. “Optimal” MiRKAT, which considers multiple candidate distances, is robust in that it suffers from little power loss in comparison to when the best distance is used and can achieve tremendous power gain in comparison to when a poor distance is chosen. Finally, we applied MiRKAT to real microbiome datasets to show that microbial communities are associated with smoking and with fecal protease levels after confounders are controlled for. PMID:25957468
The Interplay of Hippocampus and Ventromedial Prefrontal Cortex in Memory-Based Decision Making
Weilbächer, Regina A.; Gluth, Sebastian
2016-01-01
Episodic memory and value-based decision making are two central and intensively studied research domains in cognitive neuroscience, but we are just beginning to understand how they interact to enable memory-based decisions. The two brain regions that have been associated with episodic memory and value-based decision making are the hippocampus and the ventromedial prefrontal cortex, respectively. In this review article, we first give an overview of these brain–behavior associations and then focus on the mechanisms of potential interactions between the hippocampus and ventromedial prefrontal cortex that have been proposed and tested in recent neuroimaging studies. Based on those possible interactions, we discuss several directions for future research on the neural and cognitive foundations of memory-based decision making. PMID:28036071
Sköldberg, Filip; Olén, Ola; Ekbom, Anders; Schmidt, Peter T
2018-07-01
Appendicitis and acute diverticulitis share clinical features and are both influenced by genetic and environmental factors. Appendectomy has been positively associated with diverticular disease in hospital-based case-control studies. The aim of the present study was to investigate, in a population-based setting, whether appendectomy, with or without appendicitis, is associated with an altered risk of hospitalization with diverticular disease. This was a population-based case-control study. The study was based on national healthcare and population registers. We studied 41,988 individuals hospitalized between 2000 and 2010 with a first-time diagnosis of colonic diverticular disease and 413,115 matched control subjects. The association between appendectomy with or without appendicitis and diverticular disease was investigated by conditional logistic regression, including a model adjusting for hospital use. A total of 2813 cases (6.7%) and 19,037 controls (4.6%) had a previous record of appendectomy (appendectomy with acute appendicitis: adjusted OR = 1.31 (95% CI, 1.24-1.39); without appendicitis: adjusted OR = 1.30 (95% CI, 1.23-1.38)). Appendectomy was most strongly associated with an increased risk of diverticular disease within 1 year (with appendicitis: adjusted OR = 2.26 (95% CI, 1.61-3.16); without appendicitis: adjusted OR = 3.98 (95% CI, 2.71-5.83)), but the association was still present ≥20 years after appendectomy (with appendicitis: adjusted OR = 1.22 (95% CI, 1.12-1.32); without appendicitis: adjusted OR = 1.19 (95% CI, 1.10-1.28)). Detailed clinical information on the cases was not available. There were unmeasured potential confounders, such as smoking and dietary factors. The findings are consistent with a hypothesis of appendectomy causing an increased risk of diverticular disease, for example, by affecting the mucosal immune system or the gut microbiome. However, several other mechanisms may contribute to, or account for, the positive association, including a propensity for abdominal pain increasing the risk of both the exposure and the outcome. See Video Abstract at http://links.lww.com/DCR/A604.
Groen-Blokhuis, Maria M.; Pourcain, Beate St.; Greven, Corina U.; Pappa, Irene; Tiesler, Carla M.T.; Ang, Wei; Nolte, Ilja M.; Vilor-Tejedor, Natalia; Bacelis, Jonas; Ebejer, Jane L.; Zhao, Huiying; Davies, Gareth E.; Ehli, Erik A.; Evans, David M.; Fedko, Iryna O.; Guxens, Mònica; Hottenga, Jouke-Jan; Hudziak, James J.; Jugessur, Astanand; Kemp, John P.; Krapohl, Eva; Martin, Nicholas G.; Murcia, Mario; Myhre, Ronny; Ormel, Johan; Ring, Susan M.; Standl, Marie; Stergiakouli, Evie; Stoltenberg, Camilla; Thiering, Elisabeth; Timpson, Nicholas J.; Trzaskowski, Maciej; van der Most, Peter J.; Wang, Carol; Nyholt, Dale R.; Medland, Sarah E.; Neale, Benjamin; Jacobsson, Bo; Sunyer, Jordi; Hartman, Catharina A.; Whitehouse, Andrew J.O.; Pennell, Craig E.; Heinrich, Joachim; Plomin, Robert; Smith, George Davey; Tiemeier, Henning; Posthuma, Danielle; Boomsma, Dorret I.
2016-01-01
Objective To elucidate the influence of common genetic variants on childhood attention-deficit/hyperactivity disorder (ADHD) symptoms, to identify genetic variants that explain its high heritability, and to investigate the genetic overlap of ADHD symptom scores with ADHD diagnosis. Method Within the EArly Genetics and Lifecourse Epidemiology (EAGLE) consortium, genome-wide single nucleotide polymorphisms (SNPs) and ADHD symptom scores were available for 17,666 children (< 13 years) from nine population-based cohorts. SNP-based heritability was estimated in data from the three largest cohorts. Meta-analysis based on genome-wide association (GWA) analyses with SNPs was followed by gene-based association tests, and the overlap in results with a meta-analysis in the Psychiatric Genomics Consortium (PGC) case-control ADHD study was investigated. Results SNP-based heritability ranged from 5% to 34%, indicating that variation in common genetic variants influences ADHD symptom scores. The meta-analysis did not detect genome-wide significant SNPs, but three genes, lying close to each other with SNPs in high linkage disequilibrium (LD), showed a gene-wide significant association (p values between 1.46×10-6 and 2.66×10-6). One gene, WASL, is involved in neuronal development. Both SNP- and gene-based analyses indicated overlap with the PGC meta-analysis results with the genetic correlation estimated at 0.96. Conclusion The SNP-based heritability for ADHD symptom scores indicates a polygenic architecture and genes involved in neurite outgrowth are possibly involved. Continuous and dichotomous measures of ADHD appear to assess a genetically common phenotype. A next step is to combine data from population-based and case-control cohorts in genetic association studies to increase sample size and improve statistical power for identifying genetic variants. PMID:27663945
Toomey, Russell B; Russell, Stephen T
2013-06-01
Sexual minority youth are at risk for negative school-based experiences and poor academic outcomes. Yet, little is known about their experiences in positive school-based contexts. Using the National Longitudinal Study of Adolescent Health (1,214 sexual minority and 11,427 heterosexual participants), this study compared participation rates in, predictors of, and outcomes associated with three types of school-based extracurricular activities - sports, arts, and school clubs - by sexual orientation and gender. Findings revealed several significant sexual orientation and gender differences in participation rates in school-based sports, clubs, and arts activities. Further, findings suggested that the outcomes associated with extracurricular activity involvement do not differ by sexual orientation and gender; however, predictors of participation in these domains varied across groups.
A powerful score-based test statistic for detecting gene-gene co-association.
Xu, Jing; Yuan, Zhongshang; Ji, Jiadong; Zhang, Xiaoshuai; Li, Hongkai; Wu, Xuesen; Xue, Fuzhong; Liu, Yanxun
2016-01-29
The genetic variants identified by Genome-wide association study (GWAS) can only account for a small proportion of the total heritability for complex disease. The existence of gene-gene joint effects which contains the main effects and their co-association is one of the possible explanations for the "missing heritability" problems. Gene-gene co-association refers to the extent to which the joint effects of two genes differ from the main effects, not only due to the traditional interaction under nearly independent condition but the correlation between genes. Generally, genes tend to work collaboratively within specific pathway or network contributing to the disease and the specific disease-associated locus will often be highly correlated (e.g. single nucleotide polymorphisms (SNPs) in linkage disequilibrium). Therefore, we proposed a novel score-based statistic (SBS) as a gene-based method for detecting gene-gene co-association. Various simulations illustrate that, under different sample sizes, marginal effects of causal SNPs and co-association levels, the proposed SBS has the better performance than other existed methods including single SNP-based and principle component analysis (PCA)-based logistic regression model, the statistics based on canonical correlations (CCU), kernel canonical correlation analysis (KCCU), partial least squares path modeling (PLSPM) and delta-square (δ (2)) statistic. The real data analysis of rheumatoid arthritis (RA) further confirmed its advantages in practice. SBS is a powerful and efficient gene-based method for detecting gene-gene co-association.
Howard, David M; Adams, Mark J; Clarke, Toni-Kim; Wigmore, Eleanor M; Zeng, Yanni; Hagenaars, Saskia P; Lyall, Donald M; Thomson, Pippa A; Evans, Kathryn L; Porteous, David J; Nagy, Reka; Hayward, Caroline; Haley, Chris S; Smith, Blair H; Murray, Alison D; Batty, G David; Deary, Ian J; McIntosh, Andrew M
2017-01-01
Cognitive ability is a heritable trait with a polygenic architecture, for which several associated variants have been identified using genotype-based and candidate gene approaches. Haplotype-based analyses are a complementary technique that take phased genotype data into account, and potentially provide greater statistical power to detect lower frequency variants. In the present analysis, three cohort studies (n total = 48,002) were utilised: Generation Scotland: Scottish Family Health Study (GS:SFHS), the English Longitudinal Study of Ageing (ELSA), and the UK Biobank. A genome-wide haplotype-based meta-analysis of cognitive ability was performed, as well as a targeted meta-analysis of several gene coding regions. None of the assessed haplotypes provided evidence of a statistically significant association with cognitive ability in either the individual cohorts or the meta-analysis. Within the meta-analysis, the haplotype with the lowest observed P -value overlapped with the D-amino acid oxidase activator ( DAOA ) gene coding region. This coding region has previously been associated with bipolar disorder, schizophrenia and Alzheimer's disease, which have all been shown to impact upon cognitive ability. Another potentially interesting region highlighted within the current genome-wide association analysis (GS:SFHS: P = 4.09 x 10 -7 ), was the butyrylcholinesterase ( BCHE ) gene coding region. The protein encoded by BCHE has been shown to influence the progression of Alzheimer's disease and its role in cognitive ability merits further investigation. Although no evidence was found for any haplotypes with a statistically significant association with cognitive ability, our results did provide further evidence that the genetic variants contributing to the variance of cognitive ability are likely to be of small effect.
Park-based physical activity among children and adolescents.
Floyd, Myron F; Bocarro, Jason N; Smith, William R; Baran, Perver K; Moore, Robin C; Cosco, Nilda G; Edwards, Michael B; Suau, Luis J; Fang, Kunsheng
2011-09-01
Availability of parks is associated with higher levels of physical activity among children and adolescents. Few studies examine actual park use and park-based physical activity in these populations. This study examined associations among individual, park, and neighborhood environmental characteristics and children's and adolescent's park-based physical activity. Data were collected in 2007 on 2712 children in 20 randomly selected parks in Durham NC. The System for Observing Play and Recreation in Communities (SOPARC) provided measures of physical activity. Hierarchic regression analysis assessed associations among individual, park, and neighborhood environmental characteristics and children's park-based physical activity. Data were analyzed in 2010. Of the 2712 children observed, 34.2% and 13.2% were engaged in walking or vigorous physical activity. Environmental features of parks were associated with activity levels whereas neighborhood characteristics were not. Physical activity was negatively associated with gender (girls) (p=0.003); presence of a parent (p<0.0001); presence of nonparental adult (p=0.006); and an interaction involving the 0-5 years age group and style of play (p=0.017). Higher level of physical activity was associated with presence of other active children (p<0.0001); courts (e.g., basketball); and an interaction between number of recreation facilities and formal activities (p=0.004). These social factors and design features should be considered in order to stimulate higher levels of park-based physical activity among children and adolescents. Copyright © 2011 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.
Lasram, Khaled; Ben Halim, Nizar; Hsouna, Sana; Kefi, Rym; Arfa, Imen; Ghazouani, Welid; Jamoussi, Henda; Benrahma, Houda; Kharrat, Najla; Rebai, Ahmed; Ben Ammar, Slim; Bahri, Sonia; Barakat, Abdelhamid; Abid, Abdelmajid; Abdelhak, Sonia
2014-01-01
Aims. Genetic association studies have reported the E23K variant of KCNJ11 gene to be associated with Type 2 diabetes. In Arab populations, only four studies have investigated the role of this variant. We aimed to replicate and validate the association between the E23K variant and Type 2 diabetes in Tunisian and Arab populations. Methods. We have performed a case-control association study including 250 Tunisian patients with Type 2 diabetes and 267 controls. Allelic association has also been evaluated by 2 meta-analyses including all population-based studies among Tunisians and Arabs (2 and 5 populations, resp.). Results. A significant association between the E23K variant and Type 2 diabetes was found (OR = 1.6, 95% CI = 1.14–2.27, and P = 0.007). Furthermore, our meta-analysis has confirmed the significant role of the E23K variant in susceptibility of Type 2 diabetes in Tunisian and Arab populations (OR = 1.29, 95% CI = 1.15–1.46, and P < 10−3 and OR = 1.33, 95% CI = 1.13–1.56, and P = 0.001, resp.). Conclusion. Both case-control and meta-analyses results revealed the significant association between the E23K variant of KCNJ11 and Type 2 diabetes among Tunisians and Arabs. PMID:25165692
Feng, Wei; Cui, Xiuqing; Liu, Bing; Liu, Chuanyao; Xiao, Yang; Lu, Wei; Guo, Huan; He, Meian; Zhang, Xiaomin; Yuan, Jing; Chen, Weihong; Wu, Tangchun
2015-01-01
Elevated heavy metals and fasting plasma glucose (FPG) levels were both associated with increased risk of cardiovascular diseases. However, studies on the associations of heavy metals and essential elements with altered FPG and diabetes risk were limited or conflicting. The objective of this study was to evaluate the potential associations of heavy metals and essential trace elements with FPG and diabetes risk among general Chinese population. We conducted a cross-sectional study to investigate the associations of urinary concentrations of 23 metals with FPG, impaired fasting glucose (IFG) and diabetes among 2242 community-based Chinese adults in Wuhan. We used the false discovery rate (FDR) method to correct for multiple hypothesis tests. After adjusting for potential confounders, urinary aluminum, titanium, cobalt, nickel, copper, zinc, selenium, rubidium, strontium, molybdenum, cadmium, antimony, barium, tungsten and lead were associated with altered FPG, IFG or diabetes risk (all P< 0.05); arsenic was only dose-dependently related to diabetes (P< 0.05). After additional adjustment for multiple testing, titanium, copper, zinc, selenium, rubidium, tungsten and lead were still significantly associated with one or more outcomes (all FDR-adjusted P< 0.05). Our results suggest that multiple metals in urine are associated with FPG, IFG or diabetes risk. Because the cross-sectional design precludes inferences about causality, further prospective studies are warranted to validate our findings.
Religiosty and Mental Health in Nursing Students.
Dilber, Ružica; Babić, Dragan; Vasilj, Ivan; Martinac, Marko; Babić, Romana; Aukst-Margetić, Branka
2016-06-01
Young people and nursing students are prone to stress and psychological consequences of it. The aim of the current study was to assess the associations between psychopathology and religiosity in the group of nursing university students. The study included 100 nursing students of the Faculty of Health Studies in Mostar. The participants were assessed with the SLC-90-R and Dimensions of Religiosity Questionnaire. Sociodemographic data were also collected. All SCL-90-R subscales negatively correlated with religiosity showing that the strength of religiosity was associated with better mental health of nursing students. Twenty two percent of potential cases of mental disorder were detected based on the GSI cut-off score. Religiosity was a significant predictor of mental disorder in logistic regression based on the GSI. The year of the study and quality of family relations were associated with students' religiosity. Gender, socioeconomic status and parents' education were associated with higher psychopathology scores. Religiosity showed to be important factor of resilience for nursing students. Further studies are needed.
Rijlaarsdam, Jolien; Pappa, Irene; Walton, Esther; Bakermans-Kranenburg, Marian J.; Mileva-Seitz, Viara R.; Rippe, Ralph C.A.; Roza, Sabine J.; Jaddoe, Vincent W.V.; Verhulst, Frank C.; Felix, Janine F.; Cecil, Charlotte A.M.; Relton, Caroline L.; Gaunt, Tom R.; McArdle, Wendy; Mill, Jonathan; Barker, Edward D.; Tiemeier, Henning; van IJzendoorn, Marinus H.
2016-01-01
ABSTRACT Prenatal maternal stress exposure has been associated with neonatal differential DNA methylation. However, the available evidence in humans is largely based on candidate gene methylation studies, where only a few CpG sites were evaluated. The aim of this study was to examine the association between prenatal exposure to maternal stress and offspring genome-wide cord blood methylation using different methods. First, we conducted a meta-analysis and follow-up pathway analyses. Second, we used novel region discovery methods [i.e., differentially methylated regions (DMRs) analyses]. To this end, we used data from two independent population-based studies, the Generation R Study (n = 912) and the Avon Longitudinal Study of Parents and Children (ALSPAC, n = 828), to (i) measure genome-wide DNA methylation in cord blood and (ii) extract a prenatal maternal stress composite. The meta-analysis (ntotal = 1,740) revealed no epigenome-wide (meta P <1.00e-07) associations of prenatal maternal stress exposure with neonatal differential DNA methylation. Follow-up analyses of the top hits derived from our epigenome-wide meta-analysis (meta P <1.00e-04) indicated an over-representation of the methyltransferase activity pathway. We identified no Bonferroni-corrected (P <1.00e-06) DMRs associated with prenatal maternal stress exposure. Combining data from two independent population-based samples in an epigenome-wide meta-analysis, the current study indicates that there are no large effects of prenatal maternal stress exposure on neonatal DNA methylation. Such replication efforts are essential in the search for robust associations, whether derived from candidate gene methylation or epigenome-wide studies. PMID:26889969
USDA-ARS?s Scientific Manuscript database
For some crops, the only possible approach to gain a specific trait requires genome modification. The development of virus-resistant transgenic plants based on the pathogen-derived resistance strategy has been a success story for over three decades. However, potential risks associated with the techn...
Associations between Three School-Based Measures of Health: Is BMI Enough?
ERIC Educational Resources Information Center
Morgan, Emily H.; Houser, Robert F.; Au, Lauren E.; Sacheck, Jennifer M.
2013-01-01
School-based body mass index (BMI) notification programs are often used to raise parental awareness of childhood overweight and obesity, but how BMI results are associated with physical fitness and diet is less clear. This study examined the relationship between BMI, fitness, and diet quality in a diverse sample of urban schoolchildren…
ERIC Educational Resources Information Center
Brunet, Matthew J.
2010-01-01
Based on previous research, it is apparent that many National Collegiate Athletic Association (NCAA) Division I institutions benefit from the existence of and success in intercollegiate athletics. However, there are few, if any, studies that have researched the impact of intercollegiate athletics at National Association of Intercollegiate…
Kopcakova, Jaroslava; Dankulincova Veselska, Zuzana; Madarasova Geckova, Andrea; Bucksch, Jens; Nalecz, Hanna; Sigmundova, Dagmar; van Dijk, Jitse P; Reijneveld, Sijmen A
2017-01-03
Background: The aim of this study is to explore if perception of an activity-friendly environment is associated with more physical activity and fewer screen-based activities among adolescents. Methods: We collected self-reported data in 2014 via the Health Behavior in School-aged Children cross-sectional study from four European countries ( n = 13,800, mean age = 14.4, 49.4% boys). We explored the association of perceived environment (e.g., "There are other children nearby home to go out and play with") with physical activity and screen-based activities using a binary logistic regression model adjusted for age, gender, family affluence and country. Results: An environment perceived as activity-friendly was associated with higher odds that adolescents meet recommendations for physical activity (odds ratio (OR) for one standard deviation (SD) change = 1.11, 95% confidence interval (CI) 1.05-1.18) and lower odds for excessive screen-based activities (OR for 1 SD better = 0.93, 95% CI 0.88-0.98). Conclusions: Investment into an activity-friendly environment may support the promotion of active life styles in adolescence.
Li, Yumei; Xiang, Yang; Xu, Chao; Shen, Hui; Deng, Hongwen
2018-01-15
The development of next-generation sequencing technologies has facilitated the identification of rare variants. Family-based design is commonly used to effectively control for population admixture and substructure, which is more prominent for rare variants. Case-parents studies, as typical strategies in family-based design, are widely used in rare variant-disease association analysis. Current methods in case-parents studies are based on complete case-parents data; however, parental genotypes may be missing in case-parents trios, and removing these data may lead to a loss in statistical power. The present study focuses on testing for rare variant-disease association in case-parents study by allowing for missing parental genotypes. In this report, we extended the collapsing method for rare variant association analysis in case-parents studies to allow for missing parental genotypes, and investigated the performance of two methods by using the difference of genotypes between affected offspring and their corresponding "complements" in case-parent trios and TDT framework. Using simulations, we showed that, compared with the methods just only using complete case-parents data, the proposed strategy allowing for missing parental genotypes, or even adding unrelated affected individuals, can greatly improve the statistical power and meanwhile is not affected by population stratification. We conclude that adding case-parents data with missing parental genotypes to complete case-parents data set can greatly improve the power of our strategy for rare variant-disease association.
NASA Astrophysics Data System (ADS)
Yang, Fenglei; Hu, Sijung; Ma, Xiaoyun; Hassan, Harnani; Wei, Dongqing
2015-03-01
Spontaneous expression is associated with physiological states, i.e., heart rate, respiration, oxygen saturation (SpO2%), and heart rate variability (HRV). There have yet not sufficient efforts to explore correlation of physiological change and spontaneous expression. This study aims to study how spontaneous expression is associated with physiological changes with an approved protocol or through the videos provided from Denver Intensity of Spontaneous Facial Action Database. Not like a posed expression, motion artefact in spontaneous expression is one of evitable challenges to be overcome in the study. To obtain a physiological signs from a region of interest (ROI), a new engineering approach is being developed with an artefact-reduction method consolidated 3D active appearance model (AAM) based track, affine transformation based alignment with opto-physiological mode based imaging photoplethysmography. Also, a statistical association spaces is being used to interpret correlation of spontaneous expressions and physiological states including their probability densities by means of Gaussian Mixture Model. The present work is revealing a new avenue of study associations of spontaneous expressions and physiological states with its prospect of applications on physiological and psychological assessment.
Phytochemistry of cimicifugic acids and associated bases in Cimicifuga racemosa root extracts.
Gödecke, Tanja; Nikolic, Dejan; Lankin, David C; Chen, Shao-Nong; Powell, Sharla L; Dietz, Birgit; Bolton, Judy L; van Breemen, Richard B; Farnsworth, Norman R; Pauli, Guido F
2009-01-01
Earlier studies reported serotonergic activity for cimicifugic acids (CA) isolated from Cimicifuga racemosa. The discovery of strongly basic alkaloids, cimipronidines, from the active extract partition and evaluation of previously employed work-up procedures has led to the hypothesis of strong acid/base association in the extract. Re-isolation of the CAs was desired to permit further detailed studies. Based on the acid/base association hypothesis, a new separation scheme of the active partition was required, which separates acids from associated bases. A new 5-HT(7) bioassay guided work-up procedure was developed that concentrates activity into one partition. The latter was subjected to a new two-step centrifugal partitioning chromatography (CPC) method, which applies pH zone refinement gradient (pHZR CPC) to dissociate the acid/base complexes. The resulting CA fraction was subjected to a second CPC step. Fractions and compounds were monitored by (1)H NMR using a structure-based spin-pattern analysis facilitating dereplication of the known acids. Bioassay results were obtained for the pHZR CPC fractions and for purified CAs. A new CA was characterised. While none of the pure CAs was active, the serotonergic activity was concentrated in a single pHZR CPC fraction, which was subsequently shown to contain low levels of the potent 5-HT(7) ligand, N(omega)-methylserotonin. This study shows that CAs are not responsible for serotonergic activity in black cohosh. New phytochemical methodology (pHZR CPC) and a sensitive dereplication method (LC-MS) led to the identification of N(omega)-methylserotonin as serotonergic active principle. Copyright (c) 2009 John Wiley & Sons, Ltd.
Phytochemistry of Cimicifugic Acids and Associated Bases in Cimicifuga racemosa Root Extracts
GÖdecke, Tanja; Nikolic, Dejan; Lankin, David C.; Chen, Shao-Nong; Powell, Sharla L.; Dietz, Birgit; Bolton, Judy L.; Van Breemen, Richard B.; Farnsworth, Norman R.; Pauli, Guido F.
2009-01-01
Introduction Earlier studies reported serotonergic activity for cimicifugic acids (CA) isolated from Cimicifuga racemosa. The discovery of strongly basic alkaloids, cimipronidines, from the active extract partition and evaluation of previously employed work-up procedures has led to the hypothesis of strong acid/base association in the extract. Objective Re-isolation of the CAs was desired to permit further detailed studies. Based on the acid/base association hypothesis, a new separation scheme of the active partition was required, which separates acids from associated bases. Methodology A new 5-HT7 bioassay guided work-up procedure was developed that concentrates activity into one partition. The latter was subjected to a new 2-step centrifugal partitioning chromatography (CPC) method, which applies pH zone refinement gradient (pHZR CPC) to dissociate the acid/base complexes. The resulting CA fraction was subjected to a second CPC step. Fractions and compounds were monitored by 1H NMR using a structure based spin-pattern analysis facilitating dereplication of the known acids. Bioassay results were obtained for the pHZR CPC fractions and for purified CAs. Results A new CA was characterized. While none of the pure CAs was active, the serotonergic activity was concentrated in a single pHZR CPC fraction, which was subsequently shown to contain low levels of the potent 5-HT7 ligand, Nω–methylserotonin. Conclusion This study shows that CAs are not responsible for serotonergic activity in black cohosh. New phytochemical methodology (pHZR CPC) and a sensitive dereplication method (LC-MS) led to the identification of Nω–methylserotonin as serotonergic active principle. PMID:19140115
Egg consumption and risk of bladder cancer: a meta-analysis.
Li, Fei; Zhou, You; Hu, Rui-ting; Hou, Li-na; Du, Yue-Jun; Zhang, Xin-ji; Olkkonen, Vesa M; Tan, Wan-long
2013-01-01
The findings of epidemiologic studies on the association between egg consumption and bladder cancer risk remain conflicting. We conducted a meta-analysis to clarify the potential association between egg consumption and bladder cancer risk. Four cohort studies and 9 case-control studies in the PubMed database through February 2012 were identified on egg consumption and risk of bladder cancer involving 2715 cases and 184,727 participants. Random-effects models were used to calculate the summary relative risk estimates (SRRE) based on the highest compared with the lowest category of egg consumption. In addition, we performed stratified analyses and sensitivity and dose-response analyses to examine the association. Overall, no significant association was observed between egg consumption and bladder cancer (SRRE = 1.11 95% CI: 0.90-1.35). However, increased risk of bladder cancer was detected in North/South America (SRRE = 1.40 95% CI: 1.05-1.86) and, moreover, fried egg intake positively associated with bladder cancer as well (SRRE = 2.04, 95% CI: 1.41-2.95). In conclusion, our findings suggest no significant association between egg consumption and bladder cancer risk, except for a possible positive relationship with the intake of fried eggs based on the limited number of studies. Additional studies, especially large prospective cohort studies, are warranted to confirm these findings.
Guan, Yan-Ping; Yang, Xue-Xi; Yao, Guang-Yu; Qiu, Fei; Chen, Jun; Chen, Lu-Jia; Ye, Chang-Sheng; Li, Ming
2014-01-01
Genome-wide association studies (GWAS) have identified various genetic susceptibility loci for breast cancer based mainly on European-ancestry populations. Differing linkage disequilibrium patterns exist between European and Asian populations. Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. Association analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95% CI) for each SNP. Stratification analyses were carried out based on the estrogen receptor (ER) and progesterone receptor (PR) status. Among the 10 SNPs, rs10941679 showed significant association with breast cancer when differences between the case and control groups in this Han Chinese population were compared (30.09% GG, 45.4% GA and 23.7% AA; P = 0.012). Four SNPs (rs311499, rs1045485, rs12964873 and rs8170) showed no polymorphisms in our study. The remaining five SNPs showed no association with breast cancer in the present population. Immunohistochemical tests showed that rs2075555 was associated with ER status; the AA genotype showed greater association with ER negative than ER positive (OR = 0.54, 95% CI, 0.29-0.99; P = 0.046). AA of rs7166081 was also associated with ER status, but showed a greater association with ER positive than negative (OR = 1.59, 95% CI = 1.04-2.44; P = 0.031). However, no significant associations were found among the SNPs and PR status. In this study using a Han Chinese population, rs10941679 was the only SNP associated with breast cancer risk, indicating a difference between European and Chinese populations in susceptibility loci. Therefore, confirmation studies are necessary before utilization of these loci in Chinese.
Eleven loci with new reproducible genetic associations with allergic disease risk.
Ferreira, Manuel A R; Vonk, Judith M; Baurecht, Hansjörg; Marenholz, Ingo; Tian, Chao; Hoffman, Joshua D; Helmer, Quinta; Tillander, Annika; Ullemar, Vilhelmina; Lu, Yi; Rüschendorf, Franz; Hinds, David A; Hübner, Norbert; Weidinger, Stephan; Magnusson, Patrik K E; Jorgenson, Eric; Lee, Young-Ae; Boomsma, Dorret I; Karlsson, Robert; Almqvist, Catarina; Koppelman, Gerard H; Paternoster, Lavinia
2018-04-19
A recent genome-wide association study (GWAS) identified 99 loci that contain genetic risk variants shared between asthma, hay fever, and eczema. Many more risk loci shared between these common allergic diseases remain to be discovered, which could point to new therapeutic opportunities. We sought to identify novel risk loci shared between asthma, hay fever, and eczema by applying a gene-based test of association to results from a published GWAS that included data from 360,838 subjects. We used approximate conditional analysis to adjust the results from the published GWAS for the effects of the top risk variants identified in that study. We then analyzed the adjusted GWAS results with the EUGENE gene-based approach, which combines evidence for association with disease risk across regulatory variants identified in different tissues. Novel gene-based associations were followed up in an independent sample of 233,898 subjects from the UK Biobank study. Of the 19,432 genes tested, 30 had a significant gene-based association at a Bonferroni-corrected P value of 2.5 × 10 -6 . Of these, 20 were also significantly associated (P < .05/30 = .0016) with disease risk in the replication sample, including 19 that were located in 11 loci not reported to contain allergy risk variants in previous GWASs. Among these were 9 genes with a known function that is directly relevant to allergic disease: FOSL2, VPRBP, IPCEF1, PRR5L, NCF4, APOBR, IL27, ATXN2L, and LAT. For 4 genes (eg, ATXN2L), a genetically determined decrease in gene expression was associated with decreased allergy risk, and therefore drugs that inhibit gene expression or function are predicted to ameliorate disease symptoms. The opposite directional effect was observed for 14 genes, including IL27, a cytokine known to suppress T H 2 responses. Using a gene-based approach, we identified 11 risk loci for allergic disease that were not reported in previous GWASs. Functional studies that investigate the contribution of the 19 associated genes to the pathophysiology of allergic disease and assess their therapeutic potential are warranted. Copyright © 2018 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.
NASA Astrophysics Data System (ADS)
Meng, Q. Y.; Svendsgaard, D.; Kotchmar, D. J.; Pinto, J. P.
2012-09-01
Although positive associations between ambient NO2 concentrations and personal exposures have generally been found by exposure studies, the strength of the associations varied among studies. Differences in results could be related to differences in study design and in exposure factors. However, the effects of study design, exposure factors, and sampling and measurement errors on the strength of the personal-ambient associations have not been evaluated quantitatively in a systematic manner. A quantitative research synthesis was conducted to examine these issues based on peer-reviewed publications in the past 30 years. Factors affecting the strength of the personal-ambient associations across the studies were also examined with meta-regression. Ambient NO2 was found to be significantly associated with personal NO2 exposures, with estimates of 0.42, 0.16, and 0.72 for overall pooled, longitudinal and daily average correlation coefficients based on random-effects meta-analysis. This conclusion was robust after correction for publication bias with correlation coefficients of 0.37, 0.16 and 0.45. We found that season and some population characteristics, such as pre-existing disease, were significant factors affecting the strength of the personal-ambient associations. More meaningful and rigorous comparisons would be possible if greater detail were published on the study design (e.g. local and indoor sources, housing characteristics, etc.) and data quality (e.g., detection limits and percent of data above detection limits).
Meta-Analysis of the Association between Tea Intake and the Risk of Cognitive Disorders
Ma, Qing-Ping; Huang, Chen; Cui, Qiao-Yun; Yang, Ding-Jun; Sun, Kang; Chen, Xuan; Li, Xing-Hui
2016-01-01
Background Alzheimer’s disease is a common neurodegenerative disorder in elderly. This study was aimed to systematically evaluate the association between tea intake and the risk of cognitive disorders by meta-analysis. Methods and Findings PubMed, Embase and Wanfang databases were systematically searched and a total of 26 observational studies were included in this study. Odds ratios (ORs) and the corresponding 95% confidence intervals (CIs) were calculated and pooled by using fixed or random effects models according to the degree of heterogeneity. Results The overall pooled analysis indicated that tea intake could significantly reduce the risk of cognitive disorders (OR = 0.65, 95%CI = 0.58–0.73). Subgroup analyses were conducted based on study design, population, frequency of tea drinking and type of cognitive disorders. The results showed that tea drinking was significantly associated with the reduced incidence of cognitive disorders in all of subgroups based on study design and frequency of tea drinking. In particular, tea drinking was inversely associated with the risk of cognitive impairment (CoI), mild cognitive impairment (MCI), cognitive decline and ungrouped cognitive disorders. Moreover, for population subgroups, the significant association was only found in Chinese people. Conclusion Our study suggests that daily tea drinking is associated with decreased risk of CoI, MCI and cognitive decline in the elderly. However, the association between tea intake and Alzheimer’s disease remains elusive. PMID:27824892
Toomey, Russell B.; Anhalt, Karla
2016-01-01
This study examined whether mindfulness strategies (e.g., acting non-judgmentally with awareness and attention to present events) were effective in mitigating the associations among school-based victimization related to ethnicity and sexual orientation, well-being (i.e., depressive symptoms and self-esteem), and grade-point average (GPA). The U.S.-based sample included 236 Latina/o sexual minority students, ranging in age from 14 to 24 years (47% were enrolled in secondary schools, 53% in postsecondary schools). Results from structural equation modeling revealed that ethnicity-based school victimization was negatively associated with GPA but not well-being. However, sexual orientation-based victimization was not associated with well-being or GPA. Mindfulness was positively associated with well-being but not GPA. High levels of mindfulness coping were protective when the stressor was sexual orientation-based victimization but not ethnicity-based school victimization. These findings contribute to a growing literature documenting the unique school barriers experienced by Latina/o sexual minority youth and highlight the promising utility of mindfulness-based intervention strategies for coping with minority stress. PMID:28018933
Murakami, Kentaro; Livingstone, M Barbara E
2016-05-28
The association between eating frequency (EF) and adiposity in young populations is inconsistent. This cross-sectional study examined associations of EF, meal frequency (MF) and snack frequency (SF) with adiposity measures in US children aged 6-11 years (n 4346) and adolescents aged 12-19 years (n 6338) participating in the National Health and Nutrition Examination Survey 2003-2012. Using data from two 24-h dietary recalls, all eating occasions providing ≥210 kJ of energy were divided into meals or snacks based on contribution to energy intake (≥15 or <15 %), self-report and time (06.00-09.00, 12.00-14.00 and 17.00-20.00 hours or others). When analysed without adjustment for the ratio of reported energy intake:estimated energy requirement (EI:EER), all measures of EF, MF and SF showed inverse or null associations with overweight (BMI≥85th percentile of BMI-for-age) and abdominal obesity (waist circumference≥90th percentile) in both children and adolescents. After adjustment for EI:EER, however, EF and SF, but not MF, showed positive associations in children, irrespective of the definition of meals and snacks. In adolescents, after adjustment for EI:EER, positive associations were observed for EF (abdominal obesity only), SF based on energy contribution and MF based on self-report, whereas there was an inverse association between MF based on energy contribution and overweight. In conclusion, higher SF and EF, but not MF, were associated with higher risks of overweight and abdominal obesity in children, whereas associations varied in adolescents, depending on the definition of meals and snacks. Prospective studies are needed to establish the associations observed here.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Gilbert, Jack A.; Quinn, Robert A.; Debelius, Justine
Rapid advances in DNA sequencing, metabolomics, proteomics and computation dramatically increase accessibility of microbiome studies and identify links between the microbiome and disease. Microbial time-series and multiple molecular perspectives enable Microbiome-Wide Association Studies (MWAS), analogous to Genome-Wide Association Studies (GWAS). Rapid research advances point towards actionable results, although approved clinical tests based on MWAS are still in the future. Appreciating the complexity of interactions between diet, chemistry, health and the microbiome, and determining the frequency of observations needed to capture and integrate this dynamic interface, is paramount for addressing the need for personalized and precision microbiome-based diagnostics and therapies.
Liu, Ching-Ming; Chang, Shuenn-Dyh; Cheng, Po-Jen
2012-12-01
Prenatal care is associated with better pregnancy outcome and may be a patient safety issue. However, no studies have investigated the types and quality of prenatal care provided in northern Taiwan. This retrospective study assessed whether the hospital-based continuous prenatal care model at tertiary hospitals reduced the risk of perinatal morbidity and maternal complications in pre-eclampsia patients. Of 385 pre-eclampsia patients recruited from among 23,665 deliveries, 198 were classified as patients with little or no prenatal care who received traditional, individualized, and physician-based discontinuous prenatal care (community-based model), and 187 were classified as control patients who received tertiary hospital-based continuous prenatal care. The effects on perinatal outcome were significantly different between the two groups. The cases in the hospital-based care group were less likely to be associated with preterm delivery, low birth weight, very low birth weight, and intrauterine growth restriction. After adjustment of confounding factors, the factors associated with pregnant women who received little or no prenatal care by individualized physician groups were diastolic blood pressure ≥ 105 mmHg, serum aspartate transaminase level ≥ 150 IU/L, and low-birth-weight deliveries. This study also demonstrated the dose-response effect of inadequate, intermediate, adequate, and intensive prenatal care status on fetal birth weight and gestational periods (weeks to delivery). The types of prenatal care may be associated with different pregnancy outcomes and neonatal morbidity. Factors associated with inadequate prenatal care may be predictors of pregnancy outcome in pregnant women with pre-eclampsia. Copyright © 2012. Published by Elsevier B.V.
Neyens, David M; Childers, Ashley Kay
2017-07-01
To determine the barriers and facilitators associated with willingness to use personal health information management (PHIM) systems to support an existing worksite wellness program (WWP). The study design involved a Web-based survey. The study setting was a regional hospital. Hospital employees comprised the study subjects. Willingness, barriers, and facilitators associated with PHIM were measured. Bivariate logit models were used to model two binary dependent variables. One model predicted the likelihood of believing PHIM systems would positively affect overall health and willingness to use. Another predicted the likelihood of worrying about online security and not believing PHIM systems would benefit health goals. Based on 333 responses, believing PHIM systems would positively affect health was highly associated with willingness to use PHIM systems (p < .01). Those comfortable online were 7.22 times more willing to use PHIM systems. Participants in exercise-based components of WWPs were 3.03 times more likely to be willing to use PHIM systems. Those who worried about online security were 5.03 times more likely to believe PHIM systems would not help obtain health goals. Comfort with personal health information online and exercise-based WWP experience was associated with willingness to use PHIM systems. However, nutrition-based WWPs did not have similar effects. Implementation barriers relate to technology anxiety and trust in security, as well as experience with specific WWP activities. Identifying differences between WWP components and addressing technology concerns before implementation of PHIM systems into WWPs may facilitate improved adoption and usage.
Semantic Boost on Episodic Associations: An Empirically-Based Computational Model
ERIC Educational Resources Information Center
Silberman, Yaron; Bentin, Shlomo; Miikkulainen, Risto
2007-01-01
Words become associated following repeated co-occurrence episodes. This process might be further determined by the semantic characteristics of the words. The present study focused on how semantic and episodic factors interact in incidental formation of word associations. First, we found that human participants associate semantically related words…
Chen, Xing; Niu, Ya-Wei; Wang, Guang-Hui; Yan, Gui-Ying
2017-12-12
Recently, as the research of microRNA (miRNA) continues, there are plenty of experimental evidences indicating that miRNA could be associated with various human complex diseases development and progression. Hence, it is necessary and urgent to pay more attentions to the relevant study of predicting diseases associated miRNAs, which may be helpful for effective prevention, diagnosis and treatment of human diseases. Especially, constructing computational methods to predict potential miRNA-disease associations is worthy of more studies because of the feasibility and effectivity. In this work, we developed a novel computational model of multiple kernels learning-based Kronecker regularized least squares for MiRNA-disease association prediction (MKRMDA), which could reveal potential miRNA-disease associations by automatically optimizing the combination of multiple kernels for disease and miRNA. MKRMDA obtained AUCs of 0.9040 and 0.8446 in global and local leave-one-out cross validation, respectively. Meanwhile, MKRMDA achieved average AUCs of 0.8894 ± 0.0015 in fivefold cross validation. Furthermore, we conducted three different kinds of case studies on some important human cancers for further performance evaluation. In the case studies of colonic cancer, esophageal cancer and lymphoma based on known miRNA-disease associations in HMDDv2.0 database, 76, 94 and 88% of the corresponding top 50 predicted miRNAs were confirmed by experimental reports, respectively. In another two kinds of case studies for new diseases without any known associated miRNAs and diseases only with known associations in HMDDv1.0 database, the verified ratios of two different cancers were 88 and 94%, respectively. All the results mentioned above adequately showed the reliable prediction ability of MKRMDA. We anticipated that MKRMDA could serve to facilitate further developments in the field and the follow-up investigations by biomedical researchers.
Verner, Marc-André; Loccisano, Anne E; Morken, Nils-Halvdan; Yoon, Miyoung; Wu, Huali; McDougall, Robin; Maisonet, Mildred; Marcus, Michele; Kishi, Reiko; Miyashita, Chihiro; Chen, Mei-Huei; Hsieh, Wu-Shiun; Andersen, Melvin E; Clewell, Harvey J; Longnecker, Matthew P
2015-12-01
Prenatal exposure to perfluoroalkyl substances (PFAS) has been associated with lower birth weight in epidemiologic studies. This association could be attributable to glomerular filtration rate (GFR), which is related to PFAS concentration and birth weight. We used a physiologically based pharmacokinetic (PBPK) model of pregnancy to assess how much of the PFAS-birth weight association observed in epidemiologic studies might be attributable to GFR. We modified a PBPK model to reflect the association of GFR with birth weight (estimated from three studies of GFR and birth weight) and used it to simulate PFAS concentrations in maternal and cord plasma. The model was run 250,000 times, with variation in parameters, to simulate a population. Simulated data were analyzed to evaluate the association between PFAS levels and birth weight due to GFR. We compared simulated estimates with those from a meta-analysis of epidemiologic data. The reduction in birth weight for each 1-ng/mL increase in simulated cord plasma for perfluorooctane sulfonate (PFOS) was 2.72 g (95% CI: -3.40, -2.04), and for perfluorooctanoic acid (PFOA) was 7.13 g (95% CI: -8.46, -5.80); results based on maternal plasma at term were similar. Results were sensitive to variations in PFAS level distributions and the strength of the GFR-birth weight association. In comparison, our meta-analysis of epidemiologic studies suggested that each 1-ng/mL increase in prenatal PFOS and PFOA levels was associated with 5.00 g (95% CI: -21.66, -7.78) and 14.72 g (95% CI: -8.92, -1.09) reductions in birth weight, respectively. Results of our simulations suggest that a substantial proportion of the association between prenatal PFAS and birth weight may be attributable to confounding by GFR and that confounding by GFR may be more important in studies with sample collection later in pregnancy.
Shuryak, Igor; Lubin, Jay H; Brenner, David J
2014-06-01
Recent epidemiological studies have suggested that radiation exposure from pediatric CT scanning is associated with small excess cancer risks. However, the majority of CT scans are performed on adults, and most radiation-induced cancers appear during middle or old age, in the same age range as background cancers. Consequently, a logical next step is to investigate the effects of CT scanning in adulthood on lifetime cancer risks by conducting adult-based, appropriately designed epidemiological studies. Here we estimate the sample size required for such studies to detect CT-associated risks. This was achieved by incorporating different age-, sex-, time- and cancer type-dependent models of radiation carcinogenesis into an in silico simulation of a population-based cohort study. This approach simulated individual histories of chest and abdominal CT exposures, deaths and cancer diagnoses. The resultant sample sizes suggest that epidemiological studies of realistically sized cohorts can detect excess lifetime cancer risks from adult CT exposures. For example, retrospective analysis of CT exposure and cancer incidence data from a population-based cohort of 0.4 to 1.3 million (depending on the carcinogenic model) CT-exposed UK adults, aged 25-65 in 1980 and followed until 2015, provides 80% power for detecting cancer risks from chest and abdominal CT scans.
Kernel-Based Measure of Variable Importance for Genetic Association Studies.
Gallego, Vicente; Luz Calle, M; Oller, Ramon
2017-06-17
The identification of genetic variants that are associated with disease risk is an important goal of genetic association studies. Standard approaches perform univariate analysis where each genetic variant, usually Single Nucleotide Polymorphisms (SNPs), is tested for association with disease status. Though many genetic variants have been identified and validated so far using this univariate approach, for most complex diseases a large part of their genetic component is still unknown, the so called missing heritability. We propose a Kernel-based measure of variable importance (KVI) that provides the contribution of a SNP, or a group of SNPs, to the joint genetic effect of a set of genetic variants. KVI can be used for ranking genetic markers individually, sets of markers that form blocks of linkage disequilibrium or sets of genetic variants that lie in a gene or a genetic pathway. We prove that, unlike the univariate analysis, KVI captures the relationship with other genetic variants in the analysis, even when measured at the individual level for each genetic variable separately. This is specially relevant and powerful for detecting genetic interactions. We illustrate the results with data from an Alzheimer's disease study and show through simulations that the rankings based on KVI improve those rankings based on two measures of importance provided by the Random Forest. We also prove with a simulation study that KVI is very powerful for detecting genetic interactions.
Sinnott, Jennifer A; Cai, Fiona; Yu, Sheng; Hejblum, Boris P; Hong, Chuan; Kohane, Isaac S; Liao, Katherine P
2018-05-17
Standard approaches for large scale phenotypic screens using electronic health record (EHR) data apply thresholds, such as ≥2 diagnosis codes, to define subjects as having a phenotype. However, the variation in the accuracy of diagnosis codes can impair the power of such screens. Our objective was to develop and evaluate an approach which converts diagnosis codes into a probability of a phenotype (PheProb). We hypothesized that this alternate approach for defining phenotypes would improve power for genetic association studies. The PheProb approach employs unsupervised clustering to separate patients into 2 groups based on diagnosis codes. Subjects are assigned a probability of having the phenotype based on the number of diagnosis codes. This approach was developed using simulated EHR data and tested in a real world EHR cohort. In the latter, we tested the association between low density lipoprotein cholesterol (LDL-C) genetic risk alleles known for association with hyperlipidemia and hyperlipidemia codes (ICD-9 272.x). PheProb and thresholding approaches were compared. Among n = 1462 subjects in the real world EHR cohort, the threshold-based p-values for association between the genetic risk score (GRS) and hyperlipidemia were 0.126 (≥1 code), 0.123 (≥2 codes), and 0.142 (≥3 codes). The PheProb approach produced the expected significant association between the GRS and hyperlipidemia: p = .001. PheProb improves statistical power for association studies relative to standard thresholding approaches by leveraging information about the phenotype in the billing code counts. The PheProb approach has direct applications where efficient approaches are required, such as in Phenome-Wide Association Studies.
Correlation between Sleep Duration and Risk of Stroke.
Patyar, Sazal; Patyar, Rakesh Raman
2015-05-01
Modern lifestyle and job requirements have changed the sleep habits of most of the adult population. Various population-based studies have associated an increase in mortality with either shortened sleep or long sleep duration. Thus a U-shaped relationship between sleep duration and all-cause mortality in both men and women has been suggested. Several studies have found an association between sleep duration and risk of cardiovascular diseases also. Efforts to understand the etiology of stroke have indicated an association between sleep and stroke too. Obstructive sleep apnea, a sleep-related disorder, has been reported to significantly increase the risk of stroke. Moreover, many studies have shown that both short and long sleep durations are related to increased likelihood of diabetes and hypertension, which themselves are risk factors for stroke. Therefore, this review focuses on the correlation between sleep duration and risk of stroke based on the experimental and epidemiologic studies. Although a few experimental studies have reported that partial sleep deprivation may reduce stroke incidence and severity, yet, most experimental and observational studies have indicated a strong association between short/long sleep durations and higher risk of stroke. Copyright © 2015 National Stroke Association. Published by Elsevier Inc. All rights reserved.
MAGNAMWAR: an R package for genome-wide association studies of bacterial orthologs.
Sexton, Corinne E; Smith, Hayden Z; Newell, Peter D; Douglas, Angela E; Chaston, John M
2018-06-01
Here we report on an R package for genome-wide association studies of orthologous genes in bacteria. Before using the software, orthologs from bacterial genomes or metagenomes are defined using local or online implementations of OrthoMCL. These presence-absence patterns are statistically associated with variation in user-collected phenotypes using the Mono-Associated GNotobiotic Animals Metagenome-Wide Association R package (MAGNAMWAR). Genotype-phenotype associations can be performed with several different statistical tests based on the type and distribution of the data. MAGNAMWAR is available on CRAN. john_chaston@byu.edu.
Asadi-Lari, M; Salimi, Y; Vaez-Mahdavi, M R; Faghihzadeh, S; Haeri Mehrizi, A A; Jorjoran Shushtari, Z; Cheraghian, Bahman
2018-04-10
Osteoporosis is a widespread disease among older peoples. The aim of this study is to estimate the prevalence of self-reported osteoporosis and assessing its association with socio-economic status. A population-based cross-sectional study was conducted in Tehran, Iran in 2011. Participants were 45,990 individuals aged above 20 years from 22 urban districts. Osteoporosis was measured by self-administrative questionnaire. Wealth index was constructed using principal component analysis based on household assets. Chi-square test, chi square test for trend, and crude odds ratio were used to assess associations in univariate analysis. Multiple logistic regression utilized to estimate adjusted associations between self-reported osteoporosis and socio-economic status.The overall estimated prevalence of self-reported osteoporosis was 4% (95% CI 3.88-4.13), 1.19% in men, and 6.84% in women (P < 0.001). The prevalence increased considerably as age increased (P for trend < 0.001). In multivariable analysis, education and wealth status were negative, and smoking was positively associated with the prevalence of self-reported osteoporosis. No association was found between participants' skill levels and Townsend deprivation index with the prevalence of self-reported osteoporosis.The findings of the present study have improved understanding of the association between socioeconomic status and osteoporosis in the Iranian population. It is important to consider socioeconomic status in screening and prevention programs.
Do, Chuong B.; Tung, Joyce Y.; Dorfman, Elizabeth; Kiefer, Amy K.; Drabant, Emily M.; Francke, Uta; Mountain, Joanna L.; Goldman, Samuel M.; Tanner, Caroline M.; Langston, J. William; Wojcicki, Anne; Eriksson, Nicholas
2011-01-01
Although the causes of Parkinson's disease (PD) are thought to be primarily environmental, recent studies suggest that a number of genes influence susceptibility. Using targeted case recruitment and online survey instruments, we conducted the largest case-control genome-wide association study (GWAS) of PD based on a single collection of individuals to date (3,426 cases and 29,624 controls). We discovered two novel, genome-wide significant associations with PD–rs6812193 near SCARB2 (, ) and rs11868035 near SREBF1/RAI1 (, )—both replicated in an independent cohort. We also replicated 20 previously discovered genetic associations (including LRRK2, GBA, SNCA, MAPT, GAK, and the HLA region), providing support for our novel study design. Relying on a recently proposed method based on genome-wide sharing estimates between distantly related individuals, we estimated the heritability of PD to be at least 0.27. Finally, using sparse regression techniques, we constructed predictive models that account for 6%–7% of the total variance in liability and that suggest the presence of true associations just beyond genome-wide significance, as confirmed through both internal and external cross-validation. These results indicate a substantial, but by no means total, contribution of genetics underlying susceptibility to both early-onset and late-onset PD, suggesting that, despite the novel associations discovered here and elsewhere, the majority of the genetic component for Parkinson's disease remains to be discovered. PMID:21738487
Hennings, Anna; Hannemann, Anke; Rettig, Rainer; Dörr, Marcus; Nauck, Matthias; Völzke, Henry; Lerch, Markus M.; Lieb, Wolfgang; Friedrich, Nele
2016-01-01
Background An intact angiopoietin/Tie-2 ligand receptor system is indispensable for life. High circulating angiopoietin-2 (Ang-2) concentrations are strongly associated with kidney disease involving the progressive loss of glomerular filtration. The aim of our study was to investigate the associations between renal function and serum Ang-2 or serum Tie-2 concentrations in the general population. Methods Data of 3081 and 4088 subjects from two population-based studies, the Study of Health in Pomerania (SHIP-1) and SHIP-Trend, were used. Renal function was assessed by serum creatinine, cystatin C concentration, creatinine-based estimated glomerular filtration rate [eGFR(crea)], cystatin C-based eGFR [eGFR(cys)] and urinary albumin-to-creatinine ratio (uACR). Analyses of variance and linear regression models were calculated. Results In both cohorts, strong positive associations between serum cystatin C concentrations and serum Ang-2 or Tie-2 concentrations as well as inverse associations between eGFR(cys) and serum Ang-2 or Tie-2 concentrations were found. These relations were also present in a subpopulation without hypertension or diabetes mellitus type 2. Furthermore, we detected weak U-shaped associations between serum creatinine concentrations or eGFR(crea) and serum Ang-2 concentrations. With respect to uACR a strong positive association with serum Ang-2 concentrations was revealed. Conclusion Serum Ang-2 concentrations are strongly associated with sensitive parameters of renal impairment like serum cystatin C, uACR and eGFR(cys). These findings persisted even after exclusion of subjects with hypertension or diabetes mellitus type 2, conditions that predispose to chronic renal disease and are associated with increased Ang-2 concentrations. Interestingly, we did not detect the same strong relations between serum creatinine and eGFR(crea) with serum Ang-2 concentration. Additionally, significant association of serum Tie-2 concentrations with cystatin C and eGFR(cys) were detected. PMID:27893762
Hennings, Anna; Hannemann, Anke; Rettig, Rainer; Dörr, Marcus; Nauck, Matthias; Völzke, Henry; Lerch, Markus M; Lieb, Wolfgang; Friedrich, Nele
2016-01-01
An intact angiopoietin/Tie-2 ligand receptor system is indispensable for life. High circulating angiopoietin-2 (Ang-2) concentrations are strongly associated with kidney disease involving the progressive loss of glomerular filtration. The aim of our study was to investigate the associations between renal function and serum Ang-2 or serum Tie-2 concentrations in the general population. Data of 3081 and 4088 subjects from two population-based studies, the Study of Health in Pomerania (SHIP-1) and SHIP-Trend, were used. Renal function was assessed by serum creatinine, cystatin C concentration, creatinine-based estimated glomerular filtration rate [eGFR(crea)], cystatin C-based eGFR [eGFR(cys)] and urinary albumin-to-creatinine ratio (uACR). Analyses of variance and linear regression models were calculated. In both cohorts, strong positive associations between serum cystatin C concentrations and serum Ang-2 or Tie-2 concentrations as well as inverse associations between eGFR(cys) and serum Ang-2 or Tie-2 concentrations were found. These relations were also present in a subpopulation without hypertension or diabetes mellitus type 2. Furthermore, we detected weak U-shaped associations between serum creatinine concentrations or eGFR(crea) and serum Ang-2 concentrations. With respect to uACR a strong positive association with serum Ang-2 concentrations was revealed. Serum Ang-2 concentrations are strongly associated with sensitive parameters of renal impairment like serum cystatin C, uACR and eGFR(cys). These findings persisted even after exclusion of subjects with hypertension or diabetes mellitus type 2, conditions that predispose to chronic renal disease and are associated with increased Ang-2 concentrations. Interestingly, we did not detect the same strong relations between serum creatinine and eGFR(crea) with serum Ang-2 concentration. Additionally, significant association of serum Tie-2 concentrations with cystatin C and eGFR(cys) were detected.
Wang, Yi-Ting; Sung, Pei-Yuan; Lin, Peng-Lin; Yu, Ya-Wen; Chung, Ren-Hua
2015-05-15
Genome-wide association studies (GWAS) have become a common approach to identifying single nucleotide polymorphisms (SNPs) associated with complex diseases. As complex diseases are caused by the joint effects of multiple genes, while the effect of individual gene or SNP is modest, a method considering the joint effects of multiple SNPs can be more powerful than testing individual SNPs. The multi-SNP analysis aims to test association based on a SNP set, usually defined based on biological knowledge such as gene or pathway, which may contain only a portion of SNPs with effects on the disease. Therefore, a challenge for the multi-SNP analysis is how to effectively select a subset of SNPs with promising association signals from the SNP set. We developed the Optimal P-value Threshold Pedigree Disequilibrium Test (OPTPDT). The OPTPDT uses general nuclear families. A variable p-value threshold algorithm is used to determine an optimal p-value threshold for selecting a subset of SNPs. A permutation procedure is used to assess the significance of the test. We used simulations to verify that the OPTPDT has correct type I error rates. Our power studies showed that the OPTPDT can be more powerful than the set-based test in PLINK, the multi-SNP FBAT test, and the p-value based test GATES. We applied the OPTPDT to a family-based autism GWAS dataset for gene-based association analysis and identified MACROD2-AS1 with genome-wide significance (p-value=2.5×10(-6)). Our simulation results suggested that the OPTPDT is a valid and powerful test. The OPTPDT will be helpful for gene-based or pathway association analysis. The method is ideal for the secondary analysis of existing GWAS datasets, which may identify a set of SNPs with joint effects on the disease.
Tandon, Pooja S; Zhou, Chuan; Christakis, Dimitri A
2012-01-01
Given that more than 34% of U.S. children are cared for in home-based child care settings and outdoor play is associated with physical activity and other health benefits, we sought to characterize the outdoor play frequency of preschoolers cared for at home-based child care settings and factors associated with outdoor play. Cross-sectional study of 1900 preschoolers (representing approximately 862,800 children) cared for in home-based child care settings (including relative and nonrelative care) using the nationally representative Early Childhood Longitudinal Study, Birth Cohort. Only 50% of home-based child care providers reported taking the child outside to walk or play at least once/day. More than one-third of all children did not go outside to play daily with either their parent(s) or home-based child care provider. There were increased odds of going outside daily for children cared for by nonrelatives in the child's home compared with care from a relative. Children with ≥3 regular playmates had greater odds of being taken outdoors by either the parents or child care provider. We did not find statistically significant associations between other child level (age, sex, screen-time), family level (highest education in household, mother's race, employment, exercise frequency), and child care level (hours in care, provider's educational attainment, perception of neighborhood safety) factors and frequency of outdoor play. At a national level, the frequency of outdoor play for preschoolers cared for in home-based child care settings is suboptimal. Further study and efforts to increase outdoor playtime for children in home-based child care settings are needed. Copyright © 2012 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.
Mansour, Hader A; Talkowski, Michael E; Wood, Joel; Chowdari, Kodavali V; McClain, Lora; Prasad, Konasale; Montrose, Debra; Fagiolini, Andrea; Friedman, Edward S; Allen, Michael H; Bowden, Charles L; Calabrese, Joseph; El-Mallakh, Rif S; Escamilla, Michael; Faraone, Stephen V; Fossey, Mark D; Gyulai, Laszlo; Loftis, Jennifer M; Hauser, Peter; Ketter, Terence A; Marangell, Lauren B; Miklowitz, David J; Nierenberg, Andrew A; Patel, Jayendra; Sachs, Gary S; Sklar, Pamela; Smoller, Jordan W; Laird, Nan; Keshavan, Matcheri; Thase, Michael E; Axelson, David; Birmaher, Boris; Lewis, David; Monk, Tim; Frank, Ellen; Kupfer, David J; Devlin, Bernie; Nimgaonkar, Vishwajit L
2012-01-01
Objective Published studies suggest associations between circadian gene polymorphisms and bipolar I disorder (BPI), as well as schizoaffective disorder (SZA) and schizophrenia (SZ). The results are plausible, based on prior studies of circadian abnormalities. As replications have not been attempted uniformly, we evaluated representative, common polymorphisms in all three disorders. Methods We assayed 276 publicly available ‘tag’ single nucleotide polymorphisms (SNPs) at 21 circadian genes among 523 patients with BPI, 527 patients with SZ/SZA, and 477 screened adult controls. Detected associations were evaluated in relation to two published genome-wide association studies (GWAS). Results Using gene-based tests, suggestive associations were noted between EGR3 and BPI (p = 0.017), and between NPAS2 and SZ/SZA (p = 0.034). Three SNPs were associated with both sets of disorders (NPAS2: rs13025524 and rs11123857; RORB: rs10491929; p < 0.05). None of the associations remained significant following corrections for multiple comparisons. Approximately 15% of the analyzed SNPs overlapped with an independent study that conducted GWAS for BPI; suggestive overlap between the GWAS analyses and ours was noted at ARNTL. Conclusions Several suggestive, novel associations were detected with circadian genes and BPI and SZ/SZA, but the present analyses do not support associations with common polymorphisms that confer risk with odds ratios greater than 1.5. Additional analyses using adequately powered samples are warranted to further evaluate these results. PMID:19839995
Monnereau, Claire; Vogelezang, Suzanne; Kruithof, Claudia J; Jaddoe, Vincent W V; Felix, Janine F
2016-08-18
Results from genome-wide association studies (GWAS) identified many loci and biological pathways that influence adult body mass index (BMI). We aimed to identify if biological pathways related to adult BMI also affect infant growth and childhood adiposity measures. We used data from a population-based prospective cohort study among 3,975 children with a mean age of 6 years. Genetic risk scores were constructed based on the 97 SNPs associated with adult BMI previously identified with GWAS and on 28 BMI related biological pathways based on subsets of these 97 SNPs. Outcomes were infant peak weight velocity, BMI at adiposity peak and age at adiposity peak, and childhood BMI, total fat mass percentage, android/gynoid fat ratio, and preperitoneal fat area. Analyses were performed using linear regression models. A higher overall adult BMI risk score was associated with infant BMI at adiposity peak and childhood BMI, total fat mass, android/gynoid fat ratio, and preperitoneal fat area (all p-values < 0.05). Analyses focused on specific biological pathways showed that the membrane proteins genetic risk score was associated with infant peak weight velocity, and the genetic risk scores related to neuronal developmental processes, hypothalamic processes, cyclicAMP, WNT-signaling, membrane proteins, monogenic obesity and/or energy homeostasis, glucose homeostasis, cell cycle, and muscle biology pathways were associated with childhood adiposity measures (all p-values <0.05). None of the pathways were associated with childhood preperitoneal fat area. A genetic risk score based on 97 SNPs related to adult BMI was associated with peak weight velocity during infancy and general and abdominal fat measurements at the age of 6 years. Risk scores based on genetic variants linked to specific biological pathways, including central nervous system and hypothalamic processes, influence body fat development from early life onwards.
Bellander, Martin; Eschen, Anne; Lövdén, Martin; Martin, Mike; Bäckman, Lars; Brehmer, Yvonne
2017-01-01
Studies attempting to improve episodic memory performance with strategy instructions and training have had limited success in older adults: their training gains are limited in comparison to those of younger adults and do not generalize to untrained tasks and contexts. This limited success has been partly attributed to age-related impairments in associative binding of information into coherent episodes. We therefore investigated potential training and transfer effects of process-based associative memory training (i.e., repeated practice). Thirty-nine older adults (Mage = 68.8) underwent 6 weeks of either adaptive associative memory training or item recognition training. Both groups improved performance in item memory, spatial memory (object-context binding) and reasoning. A disproportionate effect of associative memory training was only observed for item memory, whereas no training-related performance changes were observed for associative memory. Self-reported strategies showed no signs of spontaneous development of memory-enhancing associative memory strategies. Hence, the results do not support the hypothesis that process-based associative memory training leads to higher associative memory performance in older adults. PMID:28119597
Bellander, Martin; Eschen, Anne; Lövdén, Martin; Martin, Mike; Bäckman, Lars; Brehmer, Yvonne
2016-01-01
Studies attempting to improve episodic memory performance with strategy instructions and training have had limited success in older adults: their training gains are limited in comparison to those of younger adults and do not generalize to untrained tasks and contexts. This limited success has been partly attributed to age-related impairments in associative binding of information into coherent episodes. We therefore investigated potential training and transfer effects of process-based associative memory training (i.e., repeated practice). Thirty-nine older adults ( M age = 68.8) underwent 6 weeks of either adaptive associative memory training or item recognition training. Both groups improved performance in item memory, spatial memory (object-context binding) and reasoning. A disproportionate effect of associative memory training was only observed for item memory, whereas no training-related performance changes were observed for associative memory. Self-reported strategies showed no signs of spontaneous development of memory-enhancing associative memory strategies. Hence, the results do not support the hypothesis that process-based associative memory training leads to higher associative memory performance in older adults.
Low, Siew-Kee; Chung, Suyoun; Takahashi, Atsushi; Zembutsu, Hitoshi; Mushiroda, Taisei; Kubo, Michiaki; Nakamura, Yusuke
2013-08-01
Chemotherapeutic agents are notoriously known to have a narrow therapeutic range that often results in life-threatening toxicity. Hence, it is clinically important to identify the patients who are at high risk for severe toxicity to certain chemotherapy through a pharmacogenomics approach. In this study, we carried out multiple genome-wide association studies (GWAS) of 13 122 cancer patients who received different chemotherapy regimens, including cyclophosphamide- and platinum-based (cisplatin and carboplatin), anthracycline-based (doxorubicin and epirubicin), and antimetabolite-based (5-fluorouracil and gemcitabine) treatment, antimicrotubule agents (paclitaxel and docetaxel), and topoisomerase inhibitors (camptothecin and etoposide), as well as combination therapy with paclitaxel and carboplatin, to identify genetic variants that are associated with the risk of severe neutropenia/leucopenia in the Japanese population. In addition, we used a weighted genetic risk scoring system to evaluate the cumulative effects of the suggestive genetic variants identified from GWAS in order to predict the risk levels of individuals who carry multiple risk alleles. Although we failed to identify genetic variants that surpassed the genome-wide significance level (P < 5.0 × 10(-8) ) through GWAS, probably due to insufficient statistical power and complex clinical features, we were able to shortlist some of the suggestive associated loci. The current study is at the relatively preliminary stage, but does highlight the complexity and problematic issues associated with retrospective pharmacogenomics studies. However, we hope that verification of these genetic variants through local and international collaborations could improve the clinical outcome for cancer patients. © 2013 Japanese Cancer Association.
Arntzen, K A; Schirmer, H; Wilsgaard, T; Mathiesen, E B
2010-01-01
The impact of moderate alcohol consumption on cognitive function and dementia is unclear. We examined the relationship between consumption of different alcoholic beverages and cognitive function in a large population-based study. Subjects were 5033 stroke-free men and women who participated in a longitudinal population-based study in Tromsø, Norway. Alcohol consumption and other cardiovascular risk factors were measured at baseline and cognitive function was assessed after 7 years follow up with verbal memory test, digit-symbol coding test and tapping test. Moderate wine consumption was independently associated with better performance on all cognitive tests in both men and women. There was no consistent association between consumption of beer and spirits and cognitive test results. Alcohol abstention was associated with lower cognitive performance in women. Light-to-moderate wine consumption was associated with better performance on cognitive tests after 7 years follow up.
Rostoks, Nils; Ramsay, Luke; MacKenzie, Katrin; Cardle, Linda; Bhat, Prasanna R.; Roose, Mikeal L.; Svensson, Jan T.; Stein, Nils; Varshney, Rajeev K.; Marshall, David F.; Graner, Andreas; Close, Timothy J.; Waugh, Robbie
2006-01-01
Genomewide association studies depend on the extent of linkage disequilibrium (LD), the number and distribution of markers, and the underlying structure in populations under study. Outbreeding species generally exhibit limited LD, and consequently, a very large number of markers are required for effective whole-genome association genetic scans. In contrast, several of the world's major food crops are self-fertilizing inbreeding species with narrow genetic bases and theoretically extensive LD. Together these are predicted to result in a combination of low resolution and a high frequency of spurious associations in LD-based studies. However, inbred elite plant varieties represent a unique human-induced pseudooutbreeding population that has been subjected to strong selection for advantageous alleles. By assaying 1,524 genomewide SNPs we demonstrate that, after accounting for population substructure, the level of LD exhibited in elite northwest European barley, a typical inbred cereal crop, can be effectively exploited to map traits by using whole-genome association scans with several hundred to thousands of biallelic SNPs. PMID:17085595
Is chronic pain associated with somatization/hypochondriasis? An evidence-based structured review.
Fishbain, David A; Lewis, John E; Gao, Jinrun; Cole, Brandly; Steele Rosomoff, R
2009-01-01
This is an evidence-based structured review. The objectives of this review were to answer the following questions: (1) Are somatization/hypochondriasis associated with chronic pain? (2) Is the degree of somatization/hypochondriasis related to pain levels? (3) Does pain treatment improve somatization/hypochondriasis? (4) Are some pain diagnoses differentially associated with somatization/hypochondriasis? Fifty-seven studies which fulfilled inclusion criteria and had high quality scores were sorted by the above-mentioned objectives. Agency for health care policy and research guidelines were utilized to type and characterize the strength/consistency of the study evidence within each objective. Somatization and hypochondriasis were both consistently associated with chronic pain (consistency ratings B and A, respectively). Study evidence indicated a correlation between pain intensity and presence of somatization and hypochondriasis (consistency rating A and B, respectively). Pain treatment improved somatization and hypochondriasis (consistency rating B and A, respectively). Some chronic pain diagnostic groups somatized more (consistency rating B). Somatization is commonly associated with chronic pain and may relate to pain levels.
Li, Guanghui; Luo, Jiawei; Xiao, Qiu; Liang, Cheng; Ding, Pingjian
2018-05-12
Interactions between microRNAs (miRNAs) and diseases can yield important information for uncovering novel prognostic markers. Since experimental determination of disease-miRNA associations is time-consuming and costly, attention has been given to designing efficient and robust computational techniques for identifying undiscovered interactions. In this study, we present a label propagation model with linear neighborhood similarity, called LPLNS, to predict unobserved miRNA-disease associations. Additionally, a preprocessing step is performed to derive new interaction likelihood profiles that will contribute to the prediction since new miRNAs and diseases lack known associations. Our results demonstrate that the LPLNS model based on the known disease-miRNA associations could achieve impressive performance with an AUC of 0.9034. Furthermore, we observed that the LPLNS model based on new interaction likelihood profiles could improve the performance to an AUC of 0.9127. This was better than other comparable methods. In addition, case studies also demonstrated our method's outstanding performance for inferring undiscovered interactions between miRNAs and diseases, especially for novel diseases. Copyright © 2018. Published by Elsevier Inc.
Jansen, Mona Dverdal; Knudsen, Gun Peggy; Myhre, Ronny; Høiseth, Gudrun; Mørland, Jørg; Næss, Øyvind; Tambs, Kristian; Magnus, Per
2014-05-01
Single nucleotide polymorphisms (SNPs) in loci 1p13 and 9p21 have previously been found to be associated with incident coronary heart disease (CHD). This study aimed to investigate whether these SNPs show associations with fatal CHD in a population-based cohort study after adjustment for socioeconomic- and lifestyle-related CHD risk factors not commonly included in genetic association studies. Using the population-based Cohort of Norway (CONOR), a nested case-cohort study was set up and DNA from 2,953 subjects (829 cases and 2,124 non-cases) were genotyped. The association with fatal CHD was estimated for four SNPs, three from locus 1p13 and one from locus 9p21. Multivariable Cox regression was used to estimate unstratified and gender-stratified hazard ratios while adjusting for major CHD risk factors. The associations between three SNPs from locus 1p13 and non-HDL cholesterol levels were also estimated. Men homozygous for the risk alleles on rs1333049 (9p21) and rs14000 (1p13) were found to have significantly increased hazard ratios in crude and adjusted models, and the hazard ratios remained statistically significant when both genders were analyzed together. Adjustment for additional socioeconomic- and lifestyle-related CHD risk factors influenced the association estimates only slightly. No significant associations were observed between the other two SNPs in loci 1p13 (rs599839 and rs646776) and CHD mortality in either gender. Both rs599839 and rs646776 showed significant, gradual increases in non-HDL cholesterol levels with increasing number of risk alleles. This study confirms the association between 9p21 (rs1333049) and fatal CHD in a Norwegian population-based cohort. The effect was not influenced by several socioeconomic- and lifestyle-related risk factors. Our results show that 1p13 (rs14000) may also be associated with fatal CHD. SNPs at 1p13 (rs599839 and rs646776) were associated with non-HDL cholesterol levels.
Depression among the urban poor in Peninsular Malaysia: a community based cross-sectional study.
Tan, Kok Leong; Yadav, Hematram
2013-01-01
This community based cross-sectional study examined the prevalence and factors associated with depression among urban poor in Peninsular Malaysia. The Patient Health Questionnaire (PHQ-9) was used to determine the presence or absence of depression. The prevalence of depression among the urban poor was 12.3%. Factors significantly associated with depression included respondents under 25 years old, male gender, living in the area for less than four years and those who do not exercise regularly. It is important to identify individuals with depression and its associated factors early because depression can severely affect the quality of life.
The association between maternal smoking and placenta abruption: a meta-analysis.
Shobeiri, Fatemeh; Masoumi, Seyedeh Zahra; Jenabi, Ensiyeh
2017-08-01
Several epidemiological studies have determined that maternal smoking can increase the risk of placenta abruption. To date, only a meta-analysis has been performed for assessing the relationship between smoking and placenta abruption. This meta-analysis was conducted to estimate the association between smoking and the risk of placenta abruption. A literature search was conducted in major databases such as PubMed, Web of Science, and Scopus from the earliest possible year to April 2016. The heterogeneity across studies was explored by Q-test and I 2 statistic. The publication bias was assessed using Begg's and Egger's tests. The results were reported using odds ratio (OR) estimate with its 95% confidence intervals (CI) using a random effects model. The literature search yielded 1167 publications until April 2016 with 4 309 610 participants. Based on OR estimates obtained from case-control and cohort studies, there was a significant association between smoking and placenta abruption (1.80; 95% CI: 1.75, 1.85). Based on the results of cohort studies, smoking and placenta abruption had a significant association (relative risk ratio: 1.65; 95% CI: 1.51, 1.80). Based on reports in epidemiological studies, we showed that smoking is a risk factor for placenta abruption.
Branco, Jerônimo Costa; Motta, Janaína; Wiener, Carolina; Oses, Jean Pierre; Pedrotti Moreira, Fernanda; Spessato, Barbara; Dias, Luciano; da Silva, Ricardo
2017-03-01
The relationship between obesity and suicide risk is still unclear with controversial research results. The aim of this study is to investigate the relationship between obesity and suicide risk for men and women in a population-based study of young adults. This is a cross-sectional population-based study that identified young adults between 18 and 35 years of age. Suicide risk was investigated through the structured clinical interview Mini. Weight and height were assessed, and participants were classified as normal-weight body mass index (BMI < 30) or obese (BMI > 30). The prevalence of obesity was of 19.9% of the total sample (n = 1953). Obesity was more prevalent among women and participants between 27 and 35 years of age. Suicide risk was present in 13.0% of the sample and more prevalent among women. In our study we found an association between obesity and suicide risk for women, but not for men. Obesity was associated with a higher prevalence of suicide risk in women. Given the strength of the relationship between BMI and suicide, identifying the mechanisms associated with obesity, especially for women, can lead to new insights into the prevention of suicide risk.
Evaluation of Selection Bias in an Internet-based Study of Pregnancy Planners
Hatch, Elizabeth E.; Hahn, Kristen A.; Wise, Lauren A.; Mikkelsen, Ellen M.; Kumar, Ramya; Fox, Matthew P.; Brooks, Daniel R.; Riis, Anders H.; Sorensen, Henrik Toft; Rothman, Kenneth J.
2016-01-01
Selection bias is a potential concern in all epidemiologic studies, but it is usually difficult to assess. Recently, concerns have been raised that internet-based prospective cohort studies may be particularly prone to selection bias. Although use of the internet is efficient and facilitates recruitment of subjects that are otherwise difficult to enroll, any compromise in internal validity would be of great concern. Few studies have evaluated selection bias in internet-based prospective cohort studies. Using data from the Danish Medical Birth Registry from 2008 to 2012, we compared six well-known perinatal associations (e.g., smoking and birth weight) in an inter-net-based preconception cohort (Snart Gravid n = 4,801) with the total population of singleton live births in the registry (n = 239,791). We used log-binomial models to estimate risk ratios (RRs) and 95% confidence intervals (CIs) for each association. We found that most results in both populations were very similar. For example, maternal obesity was associated with an increased risk of delivering a macrosomic infant in Snart Gravid (RR = 1.5; 95% CI: 1.2, 1.7) and the total population (RR = 1.5; 95% CI: 1.45, 1.53), and maternal smoking of >10 cigarettes per day was associated with a higher risk of low birth weight (RR = 2.7; 95% CI: 1.2, 5.9 vs. RR = 2.9; 95% CI: 2.6, 3.1) in Snart Gravid and the total population, respectively. We cannot be certain that our results would apply to other associations or different populations. Nevertheless, our results suggest that recruitment of reproductive aged women via the internet may be no more prone to selection bias than traditional methods of recruitment. PMID:26484423
Evidence of Dietary Improvement and Preventable Costs of Cardiovascular Disease.
Zhang, Donglan; Cogswell, Mary E; Wang, Guijing; Bowman, Barbara A
2017-11-01
We conducted a review to summarize preventable medical costs of cardiovascular disease (CVD) associated with improved diet, as defined by the 2020 Strategic Impact Goal of the American Heart Association. We searched databases of PubMed, Embase, CINAHL and ABI/INFORM to identify population-based studies published from January 1995 to December 2015 on CVD medical costs related to excess intake of salt/sodium or sugar-sweetened beverages, and inadequate intake of fruits and vegetables, fish/fish oils/omega-3 fatty acids, or whole grains/fiber/dietary fiber. Based on the American Heart Association's secondary dietary metrics, we also searched the literature on inadequate intake of nuts and excess intake of processed meat and saturated fat. For each component, we evaluated the CVD cost savings if consumption levels were changed. The cost savings were adjusted into 2013 US dollars. Among 330 studies focusing on diet and economic consequences, 16 studies evaluated CVD costs associated with 1 or more dietary components: salt/sodium (n = 13), fruits and vegetables (n = 1), meat (n = 1), and saturated fat (n = 3). In the United States, reducing individual sodium intake to 2,300 mg/day from the current level could potentially save $1,990.9/person per year for hypertension treatment, based on a simulation study. Increasing consumption of fruits and vegetables from <0.5 cup/day to >1.5 cups/day could save $1,568.0/person per year in treatment costs for CVD, based on a cohort study. Potential CVD cost savings associated with diet improvement are substantial. Interventions for reducing sodium intake and increasing fruit and vegetable consumption could be viable means to alleviate the increasing national medical expenditures. Published by Elsevier Inc.
Comprehensive gene- and pathway-based analysis of depressive symptoms in older adults.
Nho, Kwangsik; Ramanan, Vijay K; Horgusluoglu, Emrin; Kim, Sungeun; Inlow, Mark H; Risacher, Shannon L; McDonald, Brenna C; Farlow, Martin R; Foroud, Tatiana M; Gao, Sujuan; Callahan, Christopher M; Hendrie, Hugh C; Niculescu, Alexander B; Saykin, Andrew J
2015-01-01
Depressive symptoms are common in older adults and are particularly prevalent in those with or at elevated risk for dementia. Although the heritability of depression is estimated to be substantial, single nucleotide polymorphism-based genome-wide association studies of depressive symptoms have had limited success. In this study, we performed genome-wide gene- and pathway-based analyses of depressive symptom burden. Study participants included non-Hispanic Caucasian subjects (n = 6,884) from three independent cohorts, the Alzheimer's Disease Neuroimaging Initiative (ADNI), the Health and Retirement Study (HRS), and the Indiana Memory and Aging Study (IMAS). Gene-based meta-analysis identified genome-wide significant associations (ANGPT4 and FAM110A, q-value = 0.026; GRM7-AS3 and LRFN5, q-value = 0.042). Pathway analysis revealed enrichment of association in 105 pathways, including multiple pathways related to ERK/MAPK signaling, GSK3 signaling in bipolar disorder, cell development, and immune activation and inflammation. GRM7, ANGPT4, and LRFN5 have been previously implicated in psychiatric disorders, including the GRM7 region displaying association with major depressive disorder. The ERK/MAPK signaling pathway is a known target of antidepressant drugs and has important roles in neuronal plasticity, and GSK3 signaling has been previously implicated in Alzheimer's disease and as a promising therapeutic target for depression. Our results warrant further investigation in independent and larger cohorts and add to the growing understanding of the genetics and pathobiology of depressive symptoms in aging and neurodegenerative disorders. In particular, the genes and pathways demonstrating association with depressive symptoms may be potential therapeutic targets for these symptoms in older adults.
Ku, Po-Wen; Steptoe, Andrew; Liao, Yung; Hsueh, Ming-Chun; Chen, Li-Jung
2018-05-25
The appropriate limit to the amount of daily sedentary time (ST) required to minimize mortality is uncertain. This meta-analysis aimed to quantify the dose-response association between daily ST and all-cause mortality and to explore the cut-off point above which health is impaired in adults aged 18-64 years old. We also examined whether there are differences between studies using self-report ST and those with device-based ST. Prospective cohort studies providing effect estimates of daily ST (exposure) on all-cause mortality (outcome) were identified via MEDLINE, PubMed, Scopus, Web of Science, and Google Scholar databases until January 2018. Dose-response relationships between daily ST and all-cause mortality were examined using random-effects meta-regression models. Based on the pooled data for more than 1 million participants from 19 studies, the results showed a log-linear dose-response association between daily ST and all-cause mortality. Overall, more time spent in sedentary behaviors is associated with increased mortality risks. However, the method of measuring ST moderated the association between daily ST and mortality risk (p < 0.05). The cut-off of daily ST in studies with self-report ST was 7 h/day in comparison with 9 h/day for those with device-based ST. Higher amounts of daily ST are log-linearly associated with increased risk of all-cause mortality in adults. On the basis of a limited number of studies using device-based measures, the findings suggest that it may be appropriate to encourage adults to engage in less sedentary behaviors, with fewer than 9 h a day being relevant for all-cause mortality.
Gene-based rare allele analysis identified a risk gene of Alzheimer's disease.
Kim, Jong Hun; Song, Pamela; Lim, Hyunsun; Lee, Jae-Hyung; Lee, Jun Hong; Park, Sun Ah
2014-01-01
Alzheimer's disease (AD) has a strong propensity to run in families. However, the known risk genes excluding APOE are not clinically useful. In various complex diseases, gene studies have targeted rare alleles for unsolved heritability. Our study aims to elucidate previously unknown risk genes for AD by targeting rare alleles. We used data from five publicly available genetic studies from the Alzheimer's Disease Neuroimaging Initiative (ADNI) and the database of Genotypes and Phenotypes (dbGaP). A total of 4,171 cases and 9,358 controls were included. The genotype information of rare alleles was imputed using 1,000 genomes. We performed gene-based analysis of rare alleles (minor allele frequency≤3%). The genome-wide significance level was defined as meta P<1.8×10(-6) (0.05/number of genes in human genome = 0.05/28,517). ZNF628, which is located at chromosome 19q13.42, showed a genome-wide significant association with AD. The association of ZNF628 with AD was not dependent on APOE ε4. APOE and TREM2 were also significantly associated with AD, although not at genome-wide significance levels. Other genes identified by targeting common alleles could not be replicated in our gene-based rare allele analysis. We identified that rare variants in ZNF628 are associated with AD. The protein encoded by ZNF628 is known as a transcription factor. Furthermore, the associations of APOE and TREM2 with AD were highly significant, even in gene-based rare allele analysis, which implies that further deep sequencing of these genes is required in AD heritability studies.
Fischer, Heidi; Kheifets, Leeka; Huss, Anke; Peters, Tracy L; Vermeulen, Roel; Ye, Weimin; Fang, Fang; Wiebert, Pernilla; Vergara, Ximena P; Feychting, Maria
2015-11-01
Amyotrophic lateral sclerosis (ALS) has been consistently related to "electric occupations," but associations with magnetic field levels were generally weaker than those with electrical occupations. Exposure to electric shock has been suggested as a possible explanation. Furthermore, studies were generally based on mortality or prevalence of ALS, and studies often had limited statistical power. Using two electric shock and three magnetic field job-exposure matrices, we evaluated the relationship of occupational magnetic fields, electric shocks, electric occupations, and incident ALS in a large population-based nested case-control study in Sweden. Subanalyses, specified a priori, were performed for subjects by gender and by age (less than and more than 65 years). Overall, we did not observe any associations between occupational magnetic field or electric shock exposure and ALS. For individuals less than 65 years old, high electric shock exposure was associated with an odds ratio (OR) of 1.22 (95% confidence interval [CI] = 1.03, 1.43). The corresponding result for the age group 65 years or older was OR = 0.92 (95% CI = 0.81, 1.05). Results were similar regardless which job exposure matrices, exposure definitions, or cutpoints were used. For electric occupations, ORs were close to unity, regardless of age. For welders, no association was observed overall, although for welders <65 years the OR was 1.52 (95% CI = 1.05, 2.21). In this very large population-based study based on incident ALS case subjects, we did not confirm previous observations of higher risk of ALS in electrical occupations, and provided only weak support for associations between electric shocks and ALS.
Li, Changwei; Bazzano, Lydia A.L.; Rao, Dabeeru C.; Hixson, James E.; He, Jiang; Gu, Dongfeng; Gu, Charles C.; Shimmin, Lawrence C.; Jaquish, Cashell E.; Schwander, Karen; Liu, De-Pei; Huang, Jianfeng; Lu, Fanghong; Cao, Jie; Chong, Shen; Lu, Xiangfeng; Kelly, Tanika N.
2016-01-01
We conducted a genome-wide linkage scan and positional association study to identify genes and variants influencing blood lipid levels among participants of the Genetic Epidemiology Network of Salt-Sensitivity (GenSalt) study. The GenSalt study was conducted among 1906 participants from 633 Han Chinese families. Lipids were measured from overnight fasting blood samples using standard methods. Multipoint quantitative trait genome-wide linkage scans were performed on the high-density lipoprotein, low-density lipoprotein, and log-transformed triglyceride phenotypes. Using dense panels of single nucleotide polymorphisms (SNPs), single-marker and gene-based association analyses were conducted to follow-up on promising linkage signals. Additive associations between each SNP and lipid phenotypes were tested using mixed linear regression models. Gene-based analyses were performed by combining P-values from single-marker analyses within each gene using the truncated product method (TPM). Significant associations were assessed for replication among 777 Asian participants of the Multi-ethnic Study of Atherosclerosis (MESA). Bonferroni correction was used to adjust for multiple testing. In the GenSalt study, suggestive linkage signals were identified at 2p11.2–2q12.1 [maximum multipoint LOD score (MML) = 2.18 at 2q11.2] and 11q24.3–11q25 (MML = 2.29 at 11q25) for the log-transformed triglyceride phenotype. Follow-up analyses of these two regions revealed gene-based associations of charged multivesicular body protein 3 (CHMP3), ring finger protein 103 (RNF103), AF4/FMR2 family, member 3 (AFF3), and neurotrimin (NTM ) with triglycerides (P = 4 × 10−4, 1.00 × 10−5, 2.00 × 10−5, and 1.00 × 10−7, respectively). Both the AFF3 and NTM triglyceride associations were replicated among MESA study participants (P = 1.00 × 10−7 and 8.00 × 10−5, respectively). Furthermore, NTM explained the linkage signal on chromosome 11. In conclusion, we identified novel genes associated with lipid phenotypes in linkage regions on chromosomes 2 and 11. PMID:25819087
Association of Serum Thyrotropin with Anthropometric Markers of Obesity in the General Population.
Tiller, Daniel; Ittermann, Till; Greiser, Karin H; Meisinger, Christa; Agger, Carsten; Hofman, Albert; Thuesen, Betina; Linneberg, Allan; Peeters, Robin; Franco, Oscar; Heier, Margit; Kluttig, Alexander; Werdan, Karl; Stricker, Bruno; Schipf, Sabine; Markus, Marcello; Dörr, Marcus; Völzke, Henry; Haerting, Johannes
2016-09-01
Except from associations study with body weight, there are few longitudinal data regarding the association between thyroid function and anthropometric measurements such as waist circumference, waist-to-hip ratio, or waist-to height ratio. This study aimed to investigate the association of thyrotropin (TSH) at baseline with changes in different anthropometric markers between baseline and follow-up in the general population. Data were used from four population-based longitudinal cohort studies and one population-based cross-sectional study. A total of 16,902 (8204 males) subjects aged 20-95 years from the general population were studied. Body mass index, waist circumference, waist-to-hip ratio, and waist-to-height ratio were measured. Multivariable median regression models were calculated adjusting for the following covariates: age, sex, baseline value of the respective anthropometric marker, smoking status, follow-up-time period, and study site. In cross-sectional analyses, serum TSH within the reference range was positively associated with waist circumference (β = 0.94 cm [confidence interval (CI) 0.56-1.32]) and waist-to-height-ratio (β = 0.029 [CI 0.017-0.042]). These associations were also present for the full range of TSH. In the longitudinal analyses, serum TSH at baseline was inversely associated with a five-year change of all considered anthropometric measures within the prior defined study-specific reference range, as well as in the full range of serum TSH. High TSH serum levels were positively associated with current anthropometric markers, even in the study-specific reference ranges. In contrast, high TSH serum levels were associated with decreased anthropometric markers over a time span of approximately five years. Further research is needed to determine possible clinical implications as well as public health consequences of these findings.
Genome-wide scan in Hispanics highlights candidate loci for brain white matter hyperintensities
Beecham, Ashley; Dong, Chuanhui; Wright, Clinton B.; Dueker, Nicole; Brickman, Adam M.; Wang, Liyong; DeCarli, Charles; Blanton, Susan H.; Rundek, Tatjana; Mayeux, Richard
2017-01-01
Objective: To investigate genetic variants influencing white matter hyperintensities (WMHs) in the understudied Hispanic population. Methods: Using 6.8 million single nucleotide polymorphisms (SNPs), we conducted a genome-wide association study (GWAS) to identify SNPs associated with WMH volume (WMHV) in 922 Hispanics who underwent brain MRI as a cross-section of 2 community-based cohorts in the Northern Manhattan Study and the Washington Heights–Inwood Columbia Aging Project. Multiple linear modeling with PLINK was performed to examine the additive genetic effects on ln(WMHV) after controlling for age, sex, total intracranial volume, and principal components of ancestry. Gene-based tests of association were performed using VEGAS. Replication was performed in independent samples of Europeans, African Americans, and Asians. Results: From the SNP analysis, a total of 17 independent SNPs in 7 genes had suggestive evidence of association with WMHV in Hispanics (p < 1 × 10−5) and 5 genes from the gene-based analysis with p < 1 × 10−3. One SNP (rs9957475 in GATA6) and 1 gene (UBE2C) demonstrated evidence of association (p < 0.05) in the African American sample. Four SNPs with p < 1 × 10−5 were shown to affect binding of SPI1 using RegulomeDB. Conclusions: This GWAS of 2 community-based Hispanic cohorts revealed several novel WMH-associated genetic variants. Further replication is needed in independent Hispanic samples to validate these suggestive associations, and fine mapping is needed to pinpoint causal variants. PMID:28975155
ERIC Educational Resources Information Center
Felce, D.; Kerr, M.; Hastings, R. P.
2009-01-01
Background: Existing studies tend to show a positive association between mental illness and challenging behaviour among adults with intellectual disabilities (ID). However, whether the association is direct or artefactual is less clear. The purpose was to explore the association between psychiatric status and level of challenging behaviour, while…
Zhao, Huiying; Nyholt, Dale R; Yang, Yuanhao; Wang, Jihua; Yang, Yuedong
2017-06-14
Genome-wide association studies (GWAS) have successfully identified single variants associated with diseases. To increase the power of GWAS, gene-based and pathway-based tests are commonly employed to detect more risk factors. However, the gene- and pathway-based association tests may be biased towards genes or pathways containing a large number of single-nucleotide polymorphisms (SNPs) with small P-values caused by high linkage disequilibrium (LD) correlations. To address such bias, numerous pathway-based methods have been developed. Here we propose a novel method, DGAT-path, to divide all SNPs assigned to genes in each pathway into LD blocks, and to sum the chi-square statistics of LD blocks for assessing the significance of the pathway by permutation tests. The method was proven robust with the type I error rate >1.6 times lower than other methods. Meanwhile, the method displays a higher power and is not biased by the pathway size. The applications to the GWAS summary statistics for schizophrenia and breast cancer indicate that the detected top pathways contain more genes close to associated SNPs than other methods. As a result, the method identified 17 and 12 significant pathways containing 20 and 21 novel associated genes, respectively for two diseases. The method is available online by http://sparks-lab.org/server/DGAT-path .
Carty, Cara L; Bhattacharjee, Samsiddhi; Haessler, Jeff; Cheng, Iona; Hindorff, Lucia A; Aroda, Vanita; Carlson, Christopher S; Hsu, Chun-Nan; Wilkens, Lynne; Liu, Simin; Selvin, Elizabeth; Jackson, Rebecca; North, Kari E; Peters, Ulrike; Pankow, James S; Chatterjee, Nilanjan; Kooperberg, Charles
2014-08-01
Metabolic syndrome (MetS) refers to the clustering of cardiometabolic risk factors, including dyslipidemia, central adiposity, hypertension, and hyperglycemia, in individuals. Identification of pleiotropic genetic factors associated with MetS traits may shed light on key pathways or mediators underlying MetS. Using the Metabochip array in 15 148 African Americans from the Population Architecture using Genomics and Epidemiology (PAGE) study, we identify susceptibility loci and investigate pleiotropy among genetic variants using a subset-based meta-analysis method, ASsociation-analysis-based-on-subSETs (ASSET). Unlike conventional models that lack power when associations for MetS components are null or have opposite effects, Association-analysis-based-on-subsets uses 1-sided tests to detect positive and negative associations for components separately and combines tests accounting for correlations among components. With Association-analysis-based-on-subsets, we identify 27 single nucleotide polymorphisms in 1 glucose and 4 lipids loci (TCF7L2, LPL, APOA5, CETP, and APOC1/APOE/TOMM40) significantly associated with MetS components overall, all P<2.5e-7, the Bonferroni adjusted P value. Three loci replicate in a Hispanic population, n=5172. A novel African American-specific variant, rs12721054/APOC1, and rs10096633/LPL are associated with ≥3 MetS components. We find additional evidence of pleiotropy for APOE, TOMM40, TCF7L2, and CETP variants, many with opposing effects (eg, the same rs7901695/TCF7L2 allele is associated with increased odds of high glucose and decreased odds of central adiposity). We highlight a method to increase power in large-scale genomic association analyses and report a novel variant associated with all MetS components in African Americans. We also identify pleiotropic associations that may be clinically useful in patient risk profiling and for informing translational research of potential gene targets and medications. © 2014 American Heart Association, Inc.
Van Dyck, Delfien; Cerin, Ester; De Bourdeaudhuij, Ilse; Salvo, Deborah; Christiansen, Lars B; Macfarlane, Duncan; Owen, Neville; Mitas, Josef; Troelsen, Jens; Aguinaga-Ontoso, Ines; Davey, Rachel; Reis, Rodrigo; Sarmiento, Olga L; Schofield, Grant; Conway, Terry L; Sallis, James F
2015-11-01
The study's purpose was to examine age, gender, and education as potential moderators of the associations of perceived neighborhood environment variables with accelerometer-based moderate-to-vigorous physical activity (MVPA). Data were from 7273 adults from 16 sites (11 countries) that were part of a coordinated multi-country cross-sectional study. Age moderated the associations of perceived crime safety, and perceiving no major physical barriers to walking, with MVPA: positive associations were only found in older adults. Perceived land use mix-access was linearly (positive) associated with MVPA in men, and curvilinearly in women. Perceived crime safety was related to MVPA only in women. No moderating relationships were found for education. Overall the associations of adults' perceptions of environmental attributes with MVPA were largely independent of the socio-demographic factors examined. These findings are encouraging, suggesting that efforts to optimize the perceived built and social environment may act in a socially-equitable manner to facilitate MVPA. Copyright © 2015 Elsevier Ltd. All rights reserved.
Transportation Air Pollution Studies (TAPS) System
DOT National Transportation Integrated Search
1974-03-01
This report describes the Transportation Air Pollution Studies (TAPS) Data Base and the Software System which has been developed in association with it. : The TAPS Data Base will be used to store the transportation air pollution data (including emiss...
Koishi, Shinko; Yamamoto, Kenji; Matsumoto, Hideo; Koishi, Seiji; Enseki, Youichi; Oya, Akitoshi; Asakura, Arata; Aoki, Yutaka; Atsumi, Mariko; Iga, Tomiei; Inomata, Jyoji; Inoko, Hidetoshi; Sasaki, Tsukasa; Nanba, Eiji; Kato, Nobumasa; Ishii, Tetsuo; Yamazaki, Kosuke
2006-05-01
Autism is now widely accepted as a biological disorder which, by and large, starts before birth. It has been shown that serotonin (5-HT) is associated with several psychological processes and hyperserotoninemia is observed in some autistic patients. The results of previous reports about family-based association studies between the serotonin transporter (5-HTT) gene promoter polymorphism and autism are controversial. In this study, an analysis using the transmission/disequilibrium test (TDT) between the 5-HTT gene promoter polymorphism and autism in 104 trios, all ethnically Japanese, showed no significant linkage disequilibrium (P=0.17). Recently, it has been reported that some haplotypes at the serotonin transporter locus may be associated with the pathogenesis of autism. Therefore, further investigations by haplotype analyses are necessary to confirm the implications of genetic variants of the serotonin transporter in the etiology of autism.
INS VNTR is not associated with childhood obesity in 1,023 families: a family-based study.
Bouatia-Naji, Nabila; De Graeve, Franck; Brönner, Günter; Lecoeur, Cécile; Vatin, Vincent; Durand, Emmanuelle; Lichtner, Peter; Nguyen, Thuy T; Heude, Barbara; Weill, Jacques; Lévy-Marchal, Claire; Hebebrand, Johannes; Froguel, Philippe; Meyre, David
2008-06-01
Previous studies have described genetic associations of the insulin gene variable number tandem repeat (INS VNTR) variant with childhood obesity and associated phenotypes. We aimed to assess the contribution of INS VNTR genotypes to childhood obesity and variance of insulin resistance, insulin secretion, and birth weight using family-based design. Participants were either French or German whites. We used transmission disequilibrium tests (TDTs) for assessing binary traits and quantitative pedigree disequilibrium tests for assessing continuous traits. In contrast to previous findings, we did not observe any familial association with childhood obesity (T = 50%, P = 0.77) in the 1,023 families tested. In French obese children, INS VNTR did not associate with fasting insulin levels (P = 0.23) and class I allele showed only borderline association with increased insulin secretion index at 30 min (P = 0.03). INS VNTR did not associate with birth weight in obese children (P = 0.98) and TDT analyses in 350 French families with history of low birth weight (LBW) showed no association with this condition (P = 0.92). In summary, our study, the largest performed so far, does not support the previously reported associations between INS VNTR and childhood obesity, insulin resistance, or birth weight, and does not suggest any major role for this variant in modulating these traits.
Li, Yan-Chuan; Li, Yu-Zheng; Li, Rui; Lan, Li; Li, Chun-Long; Huang, Min; Shi, Dan; Feng, Ren-Nan; Sun, Chang-Hao
2018-06-07
Elevation of plasma sulfur-containing amino acids (SAAs) is generally associated with higher body mass index (BMI) and unfavorable lipid profiles. It is not known how dietary SAAs relate to these associations in humans. A convenient tool named internet-based dietary questionnaire for Chinese (IDQC) was used to estimate dietary SAAs intake. A total of 936 participants were randomly recruited and asked to complete the IDQC. Furthermore, 90 subjects were randomly selected to perform a subgroup study. The associations between dietary SAAs and prevalence of obesity, lipid profiles, and status of insulin resistance (IR), inflammation and oxidative stress were assessed. Dietary total SAAs and cysteine of overweight/obese participants were significantly higher. Dietary total SAAs and cysteine were positively associated with BMI and waist circumference. Higher dietary total SAAs were associated with higher prevalence of overweight/obesity. Higher dietary total SAAs and cysteine also associated with higher serum triglyceride (total cholesterol), low density lipoprotein, fasting blood glucose, 2 h-postprandial glucose, and homeostasis model assessment of IR. In the subgroup study, positive associations between dietary SAAs and inflammation biomarkers were also observed. Dietary SAAs are associated with higher prevalence of overweight/obesity, unfavorable lipid profiles and status of IR, and inflammation. © 2018 S. Karger AG, Basel.
Eckhoff, Christian; Kvernmo, Siv
2014-06-18
Pain is common in otherwise healthy adolescents. In recent years widespread musculoskeletal pain, in contrast to single site pain, and associating factors has been emphasized. Musculoskeletal pain has not been examined in Arctic indigenous adolescents. The aim of this study was to explore the prevalence of widespread musculoskeletal pain and its association with psychosocial factors, with emphasis on gender- and ethnic differences (Sami vs. non-Sami), and the influence of pain related functional impairment. This is a cross-sectional study based on The Norwegian Arctic Adolescent Health Study; a school-based survey responded by 4,881 10th grade students (RR: 83%) in North Norway, in 2003-2005. 10% were indigenous Sami. Musculoskeletal pain was based on reported pain in the head, shoulder/neck, back and/or arm/knee/leg, measured by the number of pain sites. Linear multiple regression was used for the multivariable analyses. The prevalence of musculoskeletal pain was high, and significantly higher in females. In total, 22.4% reported 3-4 pain sites. We found a strong association between musculoskeletal pain sites and psychosocial problems, with a higher explained variance in those reporting pain related functional impairment and in females. There were no major differences in the prevalence of musculoskeletal pain in Sami and non-Sami, however the associating factors differed somewhat between the indigenous and non-indigenous group. The final multivariable model, for the total sample, explained 21.2% of the variance of musculoskeletal pain. Anxiety/depression symptoms was the dominant factor associated with musculoskeletal pain followed by negative life events and school-related stress. Anxiety/depression, negative life events, and school-related stress were the most important factors associated with musculoskeletal pain, especially in those reporting pain related functional impairment. The most important sociocultural aspect is the finding that the indigenous Sami are not worse off.
Schürks, Markus; Kurth, Tobias; Ridker, Paul M; Buring, Julie E.; Zee, Robert Y. L.
2008-01-01
Summary Results from studies investigating the association between polymorphisms in the β2-adrenergic receptor gene (ADRB2) and cardiovascular disease (CVD) are controversial. Using haplotype-based analysis, we have previously shown a protective effect of the Gly16-Gln27-Ile164 haplotype on myocardial infarction in men. We sought to replicate these findings in women and further investigated, whether the gene variants exert differential effects on myocardial infarction and ischemic stroke. We performed a prospective study among 25,224 women, participating in the Women's Health Study and free of CVD at study entry. We had information on polymorphisms Gly16Arg, Gln27Glu, and Thr164Ile in the ADRB2. Incident CVD was self-reported and confirmed after medical record review. We used proportional hazards models to investigate the association between genotypes and haplotypes with any myocardial infarction, any ischemic stroke, and CVD death. During a mean of 11.8 years of follow-up, 274 myocardial infarctions, 299 ischemic strokes, and 159 CVD deaths occurred. Among the whole cohort genotype- and haplotype-based analyses did not show an association for any of the gene variants with any of the CVD outcomes. When we focused on Caucasian women, the haplotype-based analysis, however, suggested an inverse association of the haplotype Gly16-Gln27-Thr164 with incident myocardial infarction (multivariable-adjusted hazard ratio 0.75; 95%CI 0.58−0.97; p=0.03). We did not find associations in the haplotype-based analyses with incident ischemic stroke or CVD death. Our results suggest that the haplotype Gly16-Gln27-Thr164 is associated with reduced risk of incident myocardial infarction but not ischemic stroke in Caucasian women and suggests differential pathophysiologies for myocardial infarction and stroke. PMID:19190821
Tanaka, Keiko; Miyake, Yoshihiro; Arakawa, Masashi
2012-03-14
Studies on the associations between smoking and allergic diseases have mostly focused on asthma. Epidemiological studies in adults on the effects of smoking on allergic diseases other than asthma, such as eczema and rhinoconjunctivitis, have been limited, and the information that is available has been inconsistent. The aim of this study was to investigate the association between smoking status and environmental tobacco smoke (ETS) exposure and the prevalence of allergic diseases. Study subjects were 1743 pregnant Japanese women. The definitions of wheeze and asthma were based on criteria from the European Community Respiratory Health Survey whereas those of eczema and rhinoconjunctivitis were based on criteria from the International Study of Asthma and Allergies in Childhood. Adjustment was made for age; region of residence; family history of asthma, atopic eczema, and allergic rhinitis; household income; and education. Compared with never smoking, current smoking and ≥ 4 pack-years of smoking were independently positively associated with the prevalence of wheeze. There were no associations between smoking status and the prevalence of asthma, eczema, or rhinoconjunctivitis. When subjects who had never smoked were classified into four categories based on the source of ETS exposure (never, only at home, only at work, and both), exposure occurring both at home and at work was independently associated with an increased prevalence of two outcomes: wheeze and rhinoconjunctivitis. No relationships were observed between exposure to ETS and the prevalence of asthma or eczema. Our results provide evidence that current smoking and ETS exposure may increase the likelihood of wheeze. The possibility of a positive association between ETS exposure and rhinoconjunctivitis was also suggested.
2012-01-01
Background Studies on the associations between smoking and allergic diseases have mostly focused on asthma. Epidemiological studies in adults on the effects of smoking on allergic diseases other than asthma, such as eczema and rhinoconjunctivitis, have been limited, and the information that is available has been inconsistent. The aim of this study was to investigate the association between smoking status and environmental tobacco smoke (ETS) exposure and the prevalence of allergic diseases. Methods Study subjects were 1743 pregnant Japanese women. The definitions of wheeze and asthma were based on criteria from the European Community Respiratory Health Survey whereas those of eczema and rhinoconjunctivitis were based on criteria from the International Study of Asthma and Allergies in Childhood. Adjustment was made for age; region of residence; family history of asthma, atopic eczema, and allergic rhinitis; household income; and education. Results Compared with never smoking, current smoking and ≥ 4 pack-years of smoking were independently positively associated with the prevalence of wheeze. There were no associations between smoking status and the prevalence of asthma, eczema, or rhinoconjunctivitis. When subjects who had never smoked were classified into four categories based on the source of ETS exposure (never, only at home, only at work, and both), exposure occurring both at home and at work was independently associated with an increased prevalence of two outcomes: wheeze and rhinoconjunctivitis. No relationships were observed between exposure to ETS and the prevalence of asthma or eczema. Conclusions Our results provide evidence that current smoking and ETS exposure may increase the likelihood of wheeze. The possibility of a positive association between ETS exposure and rhinoconjunctivitis was also suggested. PMID:22413964
Active living neighborhoods: is neighborhood walkability a key element for Belgian adolescents?
De Meester, Femke; Van Dyck, Delfien; De Bourdeaudhuij, Ilse; Deforche, Benedicte; Sallis, James F; Cardon, Greet
2012-01-04
In adult research, neighborhood walkability has been acknowledged as an important construct among the built environmental correlates of physical activity. Research into this association has only recently been extended to adolescents and the current empirical evidence is not consistent. This study investigated whether neighborhood walkability and neighborhood socioeconomic status (SES) are associated with physical activity among Belgian adolescents and whether the association between neighborhood walkability and physical activity is moderated by neighborhood SES and gender. In Ghent (Belgium), 32 neighborhoods were selected based on GIS-based walkability and SES derived from census data. In total, 637 adolescents (aged 13-15 year, 49.6% male) participated in the study. Physical activity was assessed using accelerometers and the Flemish Physical Activity Questionnaire. To analyze the associations between neighborhood walkability, neighborhood SES and individual physical activity, multivariate multi-level regression analyses were conducted. Only in low-SES neighborhoods, neighborhood walkability was positively associated with accelerometer-based moderate to vigorous physical activity and the average activity level expressed in counts/minute. For active transport to and from school, cycling for transport during leisure time and sport during leisure time no association with neighborhood walkability nor, with neighborhood SES was found. For walking for transport during leisure time a negative association with neighborhood SES was found. Gender did not moderate the associations of neighborhood walkability and SES with adolescent physical activity. Neighborhood walkability was related to accelerometer-based physical activity only among adolescent boys and girls living in low-SES neighborhoods. The relation of built environment to adolescent physical activity may depend on the context.
Active living neighborhoods: is neighborhood walkability a key element for Belgian adolescents?
2012-01-01
Background In adult research, neighborhood walkability has been acknowledged as an important construct among the built environmental correlates of physical activity. Research into this association has only recently been extended to adolescents and the current empirical evidence is not consistent. This study investigated whether neighborhood walkability and neighborhood socioeconomic status (SES) are associated with physical activity among Belgian adolescents and whether the association between neighborhood walkability and physical activity is moderated by neighborhood SES and gender. Methods In Ghent (Belgium), 32 neighborhoods were selected based on GIS-based walkability and SES derived from census data. In total, 637 adolescents (aged 13-15 year, 49.6% male) participated in the study. Physical activity was assessed using accelerometers and the Flemish Physical Activity Questionnaire. To analyze the associations between neighborhood walkability, neighborhood SES and individual physical activity, multivariate multi-level regression analyses were conducted. Results Only in low-SES neighborhoods, neighborhood walkability was positively associated with accelerometer-based moderate to vigorous physical activity and the average activity level expressed in counts/minute. For active transport to and from school, cycling for transport during leisure time and sport during leisure time no association with neighborhood walkability nor, with neighborhood SES was found. For walking for transport during leisure time a negative association with neighborhood SES was found. Gender did not moderate the associations of neighborhood walkability and SES with adolescent physical activity. Conclusions Neighborhood walkability was related to accelerometer-based physical activity only among adolescent boys and girls living in low-SES neighborhoods. The relation of built environment to adolescent physical activity may depend on the context. PMID:22216923
Lieberman, Jennifer S; Kyle, Colin T; Schedlbauer, Amber; Stokes, Jared; Ekstrom, Arne D
2017-04-01
Numerous studies indicate the importance of the hippocampus to temporal order retrieval. However, behavioral studies suggest that there are different ways to retrieve temporal order information from encoded sequences, one involving an associative strategy (retrieving associations using neighboring items in a list) and another involving a recency strategy (determining which of two items came first). It remains unresolved, however, whether both strategies recruit the hippocampus or only associative strategies, consistent with the hippocampus's role in relational processing. To address this, we developed a paradigm in which we dissociated associative versus recency-based retrieval, involving the same stimulus presentation during retrieval. Associative retrieval involved an increase in RT (and decrease in performance) with greater distances between intervals, consistent with the need to retrieve intervening associations. Recency-based retrieval involved an increase in RT (and decrease in performance) with shorter distances between intervals, suggesting the use of a strength-based coding mechanism to retrieve information. We employed fMRI to determine the neural basis of the different strategies. Both strategies showed significant levels of hippocampal activation and connectivity that did not differ between tasks. In contrast, both univariate and connectivity pattern analyses revealed differences in extrahippocampal areas such as parietal and frontal cortices. A covariate analysis suggested that differences could not be explained by task difficulty alone. Together, these findings suggest that the hippocampus plays a role in both forms of temporal order retrieval, with neocortical networks mediating the different cognitive demands for associative versus recency-based temporal order retrieval.
Association of lung function genes with chronic obstructive pulmonary disease.
Kim, Woo Jin; Lim, Myoung Nam; Hong, Yoonki; Silverman, Edwin K; Lee, Ji-Hyun; Jung, Bock Hyun; Ra, Seung Won; Choi, Hye Sook; Jung, Young Ju; Park, Yong Bum; Park, Myung Jae; Lee, Sei Won; Lee, Jae Seung; Oh, Yeon-Mok; Lee, Sang Do
2014-08-01
Spirometric measurements of pulmonary function are important in diagnosing and determining the severity of chronic obstructive pulmonary disease (COPD). We performed this study to determine whether candidate genes identified in genome-wide association studies of spirometric measurements were associated with COPD and if they interacted with smoking intensity. The current analysis included 1,000 COPD subjects and 1,000 controls recruited from 24 hospital-based pulmonary clinics. Thirteen SNPs, chosen based on genome-wide association studies of spirometric measurements in the Korean population cohorts, were genotyped. Genetic association tests were performed, adjusting for age, sex, and smoking intensity, using models including a SNP-by-smoking interaction term. PID1 and FAM13A were significantly associated with COPD susceptibility. There were also significant interactions between SNPs in ACN9 and FAM13A and smoking pack-years, and an association of ACN9 with COPD in the lowest smoking tertile. The risk allele of FAM13A was associated with increased expression of FAM13A in the lung. We have validated associations of FAM13A and PID1 with COPD. ACN9 showed significant interaction with smoking and is a potential candidate gene for COPD. Significant associations of genetic variants of FAM13A with gene expression levels suggest that the associated loci may act as genetic regulatory elements for FAM13A gene expression.
Gene-Based Association Analysis for Censored Traits Via Fixed Effect Functional Regressions.
Fan, Ruzong; Wang, Yifan; Yan, Qi; Ding, Ying; Weeks, Daniel E; Lu, Zhaohui; Ren, Haobo; Cook, Richard J; Xiong, Momiao; Swaroop, Anand; Chew, Emily Y; Chen, Wei
2016-02-01
Genetic studies of survival outcomes have been proposed and conducted recently, but statistical methods for identifying genetic variants that affect disease progression are rarely developed. Motivated by our ongoing real studies, here we develop Cox proportional hazard models using functional regression (FR) to perform gene-based association analysis of survival traits while adjusting for covariates. The proposed Cox models are fixed effect models where the genetic effects of multiple genetic variants are assumed to be fixed. We introduce likelihood ratio test (LRT) statistics to test for associations between the survival traits and multiple genetic variants in a genetic region. Extensive simulation studies demonstrate that the proposed Cox RF LRT statistics have well-controlled type I error rates. To evaluate power, we compare the Cox FR LRT with the previously developed burden test (BT) in a Cox model and sequence kernel association test (SKAT), which is based on mixed effect Cox models. The Cox FR LRT statistics have higher power than or similar power as Cox SKAT LRT except when 50%/50% causal variants had negative/positive effects and all causal variants are rare. In addition, the Cox FR LRT statistics have higher power than Cox BT LRT. The models and related test statistics can be useful in the whole genome and whole exome association studies. An age-related macular degeneration dataset was analyzed as an example. © 2016 WILEY PERIODICALS, INC.
Gene-based Association Analysis for Censored Traits Via Fixed Effect Functional Regressions
Fan, Ruzong; Wang, Yifan; Yan, Qi; Ding, Ying; Weeks, Daniel E.; Lu, Zhaohui; Ren, Haobo; Cook, Richard J; Xiong, Momiao; Swaroop, Anand; Chew, Emily Y.; Chen, Wei
2015-01-01
Summary Genetic studies of survival outcomes have been proposed and conducted recently, but statistical methods for identifying genetic variants that affect disease progression are rarely developed. Motivated by our ongoing real studies, we develop here Cox proportional hazard models using functional regression (FR) to perform gene-based association analysis of survival traits while adjusting for covariates. The proposed Cox models are fixed effect models where the genetic effects of multiple genetic variants are assumed to be fixed. We introduce likelihood ratio test (LRT) statistics to test for associations between the survival traits and multiple genetic variants in a genetic region. Extensive simulation studies demonstrate that the proposed Cox RF LRT statistics have well-controlled type I error rates. To evaluate power, we compare the Cox FR LRT with the previously developed burden test (BT) in a Cox model and sequence kernel association test (SKAT) which is based on mixed effect Cox models. The Cox FR LRT statistics have higher power than or similar power as Cox SKAT LRT except when 50%/50% causal variants had negative/positive effects and all causal variants are rare. In addition, the Cox FR LRT statistics have higher power than Cox BT LRT. The models and related test statistics can be useful in the whole genome and whole exome association studies. An age-related macular degeneration dataset was analyzed as an example. PMID:26782979
Lerchbaum, E; Schwetz, V; Nauck, M; Völzke, H; Wallaschofski, H; Hannemann, A
2015-05-01
Accumulating evidence demonstrates an important interaction between bone and energy metabolism. We aimed to study the associations of three bone turnover markers (BTM: osteocalcin, beta-crosslaps, procollagen type 1 N-terminal propeptide) as well as of 25-hydroxyvitamin D and parathyroid hormone with metabolic syndrome (MetS) or type 2 diabetes mellitus (T2DM) in a large population-based cohort. This cross-sectional study comprised 2671 adult men and women participating in the first follow-up of the population-based Study of Health in Pomerania (SHIP-1). Multivariable logistic regression analyses were performed to assess sex-specific associations between the BTMs, 25-hydroxyvitamin D or parathyroid hormone and metabolic disease. All models were adjusted for age, body mass index, smoking status, physical activity, estimated glomerular filtration rate and month of blood sampling. The models for women were further adjusted for menopausal status. Higher BTM or 25-hydroxyvitamin D concentrations were associated with significantly lower odds for metabolic disease, while there was no association between parathyroid hormone and MetS or T2DM. Our results contribute to the accumulating evidence of a cross-sectional association between high BTM or 25-hydroxyvitamin D concentrations and a lower prevalence of MetS or T2DM. Further research is necessary to evaluate the mechanisms underlying these results. Copyright © 2015 Elsevier B.V. All rights reserved.
Nair, Harish; Brooks, W Abdullah; Katz, Mark; Roca, Anna; Berkley, James A; Madhi, Shabir A; Simmerman, James Mark; Gordon, Aubree; Sato, Masatoki; Howie, Stephen; Krishnan, Anand; Ope, Maurice; Lindblade, Kim A; Carosone-Link, Phyllis; Lucero, Marilla; Ochieng, Walter; Kamimoto, Laurie; Dueger, Erica; Bhat, Niranjan; Vong, Sirenda; Theodoratou, Evropi; Chittaganpitch, Malinee; Chimah, Osaretin; Balmaseda, Angel; Buchy, Philippe; Harris, Eva; Evans, Valerie; Katayose, Masahiko; Gaur, Bharti; O'Callaghan-Gordo, Cristina; Goswami, Doli; Arvelo, Wences; Venter, Marietjie; Briese, Thomas; Tokarz, Rafal; Widdowson, Marc-Alain; Mounts, Anthony W; Breiman, Robert F; Feikin, Daniel R; Klugman, Keith P; Olsen, Sonja J; Gessner, Bradford D; Wright, Peter F; Rudan, Igor; Broor, Shobha; Simões, Eric A F; Campbell, Harry
2011-12-03
The global burden of disease attributable to seasonal influenza virus in children is unknown. We aimed to estimate the global incidence of and mortality from lower respiratory infections associated with influenza in children younger than 5 years. We estimated the incidence of influenza episodes, influenza-associated acute lower respiratory infections (ALRI), and influenza-associated severe ALRI in children younger than 5 years, stratified by age, with data from a systematic review of studies published between Jan 1, 1995, and Oct 31, 2010, and 16 unpublished population-based studies. We applied these incidence estimates to global population estimates for 2008 to calculate estimates for that year. We estimated possible bounds for influenza-associated ALRI mortality by combining incidence estimates with case fatality ratios from hospital-based reports and identifying studies with population-based data for influenza seasonality and monthly ALRI mortality. We identified 43 suitable studies, with data for around 8 million children. We estimated that, in 2008, 90 million (95% CI 49-162 million) new cases of influenza (data from nine studies), 20 million (13-32 million) cases of influenza-associated ALRI (13% of all cases of paediatric ALRI; data from six studies), and 1 million (1-2 million) cases of influenza-associated severe ALRI (7% of cases of all severe paediatric ALRI; data from 39 studies) occurred worldwide in children younger than 5 years. We estimated there were 28,000-111,500 deaths in children younger than 5 years attributable to influenza-associated ALRI in 2008, with 99% of these deaths occurring in developing countries. Incidence and mortality varied substantially from year to year in any one setting. Influenza is a common pathogen identified in children with ALRI and results in a substantial burden on health services worldwide. Sufficient data to precisely estimate the role of influenza in childhood mortality from ALRI are not available. WHO; Bill & Melinda Gates Foundation. Copyright © 2011 Elsevier Ltd. All rights reserved.
Lunar base surface mission operations. Lunar Base Systems Study (LBSS) task 4.1
NASA Technical Reports Server (NTRS)
1987-01-01
The purpose was to perform an analysis of the surface operations associated with a human-tended lunar base. Specifically, the study defined surface elements and developed mission manifests for a selected base scenario, determined the nature of surface operations associated with this scenario, generated a preliminary crew extravehicular and intravehicular activity (EVA/IVA) time resource schedule for conducting the missions, and proposed concepts for utilizing remotely operated equipment to perform repetitious or hazardous surface tasks. The operations analysis was performed on a 6 year period of human-tended lunar base operation prior to permanent occupancy. The baseline scenario was derived from a modified version of the civil needs database (CNDB) scenario. This scenario emphasizes achievement of a limited set of science and exploration objectives while emplacing the minimum habitability elements required for a permanent base.
Goltz, Annemarie; Janowitz, Deborah; Hannemann, Anke; Nauck, Matthias; Hoffmann, Johanna; Seyfart, Tom; Völzke, Henry; Terock, Jan; Grabe, Hans Jörgen
2018-06-19
Depression and obesity are widespread and closely linked. Brain-derived neurotrophic factor (BDNF) and vitamin D are both assumed to be associated with depression and obesity. Little is known about the interplay between vitamin D and BDNF. We explored the putative associations and interactions between serum BDNF and vitamin D levels with depressive symptoms and abdominal obesity in a large population-based cohort. Data were obtained from the population-based Study of Health in Pomerania (SHIP)-Trend (n = 3,926). The associations of serum BDNF and vitamin D levels with depressive symptoms (measured using the Patient Health Questionnaire) were assessed with binary and multinomial logistic regression models. The associations of serum BDNF and vitamin D levels with obesity (measured by the waist-to-hip ratio [WHR]) were assessed with binary logistic and linear regression models with restricted cubic splines. Logistic regression models revealed inverse associations of vitamin D with depression (OR = 0.966; 95% CI 0.951-0.981) and obesity (OR = 0.976; 95% CI 0.967-0.985). No linear association of serum BDNF with depression or obesity was found. However, linear regression models revealed a U-shaped association of BDNF with WHR (p < 0.001). Vitamin D was inversely associated with depression and obesity. BDNF was associated with abdominal obesity, but not with depression. At the population level, our results support the relevant roles of vitamin D and BDNF in mental and physical health-related outcomes. © 2018 S. Karger AG, Basel.
ERIC Educational Resources Information Center
Balmford, James; Borland, Ron; Benda, Peter; Howard, Steve
2013-01-01
The aim was to better understand structural factors associated with uptake of automated tailored interventions for smoking cessation. In a prospective randomized controlled trial with interventions only offered, not mandated, participants were randomized based on the following: web-based expert system (QuitCoach); text messaging program (onQ);…
Aging Affects Acquisition and Reversal of Reward-Based Associative Learning
ERIC Educational Resources Information Center
Weiler, Julia A.; Bellebaum, Christian; Daum, Irene
2008-01-01
Reward-based associative learning is mediated by a distributed network of brain regions that are dependent on the dopaminergic system. Age-related changes in key regions of this system, the striatum and the prefrontal cortex, may adversely affect the ability to use reward information for the guidance of behavior. The present study investigated the…
ERIC Educational Resources Information Center
Bersamin, Melina; Paschall, Mallie J.; Fisher, Deborah A.
2017-01-01
Background: School-based health centers (SBHCs) have been associated with many positive health and academic outcomes. The current study extends previous research and examines possible differences in the association between SBHC exposure and adolescent alcohol, tobacco, and other drug use by race/ethnicity, sex, and socioeconomic status (SES).…
USDA-ARS?s Scientific Manuscript database
Genotyping-by-sequencing allows for large-scale genetic analyses in plant species with no reference genome, creating the challenge of sound inference in the presence of uncertain genotypes. Here we report an imputation-based genome-wide association study (GWAS) in reed canarygrass (Phalaris arundina...
Youth Assets and Sexual Activity: Differences Based on Race/Ethnicity
ERIC Educational Resources Information Center
Tolma, Eleni L.; Vesely, Sara K.; Oman, Roy F.; Aspy, Cheryl B.; Beebe, Laura; Rodine, Sharon; Marshall, LaDonna; Fluhr, Janene
2008-01-01
Race/ethnicity has been associated with the prevalence of sexual activity among youth as well as with youth assets. Research has also shown that youth assets are associated with youth abstinence. However, very few studies have examined whether the relationship between youth assets and sexual activity might differ based on race/ethnicity. The study…
The Positive Impact of Attending a Community-Based Youth Program on Child Depressive Symptoms
ERIC Educational Resources Information Center
Fite, Paula J.; Vitulano, Michael L.; Preddy, Teresa M.
2011-01-01
The current study evaluated associations between attending a community-based youth program, neighborhood problems, and child depressive symptoms in a sample of 147 children (mean [M] age=8.22 years, 54.4% male). Findings suggested that both program attendance and neighborhood problems were uniquely associated with child depressive symptoms while…
The Past, the Present, and the Future of Associate Degree Nursing Education.
ERIC Educational Resources Information Center
Arlton, Donna
A review of the history of associate degree nursing (ADN) education is presented, along with a discussion of contemporary problems faced by ADN educators. The paper first notes the practical, hospital-based nature of early nursing education programs; reviews early studies calling for school-based programs to prepare nurses for different levels of…
ERIC Educational Resources Information Center
Poteat, V. Paul; Sinclair, Katerina O.; DiGiovanni, Craig D.; Koenig, Brian W.; Russell, Stephen T.
2013-01-01
Few studies have examined school-based factors associated with variability in the victimization and health of lesbian, gay, bisexual, transgender, and questioning (LGBTQ) youth. Among 15,965 students in 45 Wisconsin schools, we identified differences based on Gay-Straight Alliance (GSA) presence. Youth in schools with GSAs reported less truancy,…
USDA-ARS?s Scientific Manuscript database
Our research was conducted to determine factors leading to resolution of cholestasis in patients with parenteral nutrition-associated liver disease treated with fish-oil-based lipid emulsion (FOLE). We used a prospective observational study of 57 infants <6 months of age with parenteral nutrition-as...
ERIC Educational Resources Information Center
Roemer, Lizabeth; Orsillo, Susan M.; Salters-Pedneault, Kristalyn
2008-01-01
Generalized anxiety disorder (GAD) is a chronic anxiety disorder, associated with comorbidity and impairment in quality of life, for which improved psychosocial treatments are needed. GAD is also associated with reactivity to and avoidance of internal experiences. The current study examined the efficacy of an acceptance-based behavioral therapy…
ERIC Educational Resources Information Center
Kielinen, Marko; Rantala, Heikki; Timonen, Eija; Linna, Sirkka-Liisa; Moilanen, Irma
2004-01-01
A population-based survey was conducted among 152,732 Finnish children and adolescents aged under 16 years and living in northern Finland. Diagnoses and associated medical conditions were derived from the hospital and institutional records of this area. One hundred and eighty-seven children with DSM-IV autistic disorder were identified. Associated…
Birth Outcomes among Older Mothers in Rural versus Urban Areas: A Residence-Based Approach
ERIC Educational Resources Information Center
Lisonkova, Sarka; Sheps, Samuel B.; Janssen, Patricia A.; Lee, Shoo K.; Dahlgren, Leanne; MacNab, Ying C.
2011-01-01
Purpose: We examined the association between rural residence and birth outcomes in older mothers, the effect of parity on this association, and the trend in adverse birth outcomes in relation to the distance to the nearest hospital with cesarean-section capacity. Methods: A population-based retrospective cohort study, including all singleton…
Adherence to the DASH diet in relation to psychological profile of Iranian adults.
Valipour, Ghazaleh; Esmaillzadeh, Ahmad; Azadbakht, Leila; Afshar, Hamid; Hassanzadeh, Ammar; Adibi, Peyman
2017-02-01
Although empirically derived dietary patterns have been examined in relation to depression, limited data are available linking theory-based dietary patterns and psychological health. We aimed to investigate the association between adherence to DASH-style diet and psychological health among Iranian adults. This cross-sectional study was done among 3846 general public adults in Isfahan, Iran. Dietary assessment was conducted using a validated 106-item dish-based semiquantitative food frequency questionnaire. To investigate participants' adherence to DASH-style diet, we created DASH score based on earlier publications focusing on eight components (fruits, vegetables, nuts and legumes, dairy products, grains, sweetened beverages and sweets, sodium, and red and processed meats). Participants were classified into three categories based on their DASH score [low (≤40), moderate (41-50), and high adherence (≥51)]. This categorization, instead of distribution-based classification, was used due to low adherence to the DASH dietary pattern in the study population. Psychological health was examined by means of validated Hospital Anxiety and Depression Scale and General Health Questionnaire. Depression, anxiety, and psychological distress were defined based on standard criteria. We found that moderate adherence to DASH-style diet was associated with lower odds of depression (OR 0.73; 95 % CI 0.59-0.90, P trend = 0.63) compared with those with the lowest adherence. In our stratified analyses, these associations remained significant for women (0.70; 0.54-0.91) and for normal-weight participants (0.70; 0.52-0.92). Moreover, after controlling for potential confounders, an inverse association was observed between high adherence to DASH-style diet and anxiety in normal-weight participants (0.61; 0.37-0.98). Such associations were also seen between moderate adherence to DASH-eating style and anxiety in overweight or obese individuals (0.63; 0.42-0.95). We failed to find any significant association between consumption of DASH-style diet and psychological distress. We found an inverse association between moderate adherence to DASH dietary pattern and depression. Further prospective studies are required to confirm these findings.
Exposure to ambient air pollution and the incidence of dementia: A population-based cohort study.
Chen, Hong; Kwong, Jeffrey C; Copes, Ray; Hystad, Perry; van Donkelaar, Aaron; Tu, Karen; Brook, Jeffrey R; Goldberg, Mark S; Martin, Randall V; Murray, Brian J; Wilton, Andrew S; Kopp, Alexander; Burnett, Richard T
2017-11-01
Emerging studies have implicated air pollution in the neurodegenerative processes. Less is known about the influence of air pollution, especially at the relatively low levels, on developing dementia. We conducted a population-based cohort study in Ontario, Canada, where the concentrations of pollutants are among the lowest in the world, to assess whether air pollution exposure is associated with incident dementia. The study population comprised all Ontario residents who, on 1 April 2001, were 55-85years old, Canadian-born, and free of physician-diagnosed dementia (~2.1 million individuals). Follow-up extended until 2013. We used population-based health administrative databases with a validated algorithm to ascertain incident diagnosis of dementia as well as prevalent cases. Using satellite observations, land-use regression model, and an optimal interpolation method, we derived long-term average exposure to fine particulate matter (≤2.5μm in diameter) (PM 2.5 ), nitrogen dioxide (NO 2 ), and ozone (O 3 ), respectively at the subjects' historical residences based on a population-based registry. We used multilevel spatial random-effects Cox proportional hazards models, adjusting for individual and contextual factors, such as diabetes, brain injury, and neighborhood income. We conducted various sensitivity analyses, such as lagging exposure up to 10years and considering a negative control outcome for which no (or weaker) association with air pollution is expected. We identified 257,816 incident cases of dementia in 2001-2013. We found a positive association between PM 2.5 and dementia incidence, with a hazard ratio (HR) of 1.04 (95% confidence interval (CI): 1.03-1.05) for every interquartile-range increase in exposure to PM 2.5 . Similarly, NO 2 was associated with increased incidence of dementia (HR=1.10; 95% CI: 1.08-1.12). No association was found for O 3 . These associations were robust to all sensitivity analyses examined. These estimates translate to 6.1% of dementia cases (or 15,813 cases) attributable to PM 2.5 and NO 2 , based on the observed distribution of exposure relative to the lowest quartile in concentrations in this cohort. In this large cohort, exposure to air pollution, even at the relative low levels, was associated with higher dementia incidence. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.
Do parental heights influence pregnancy length?: a population-based prospective study, HUNT 2
2013-01-01
Background The objective of this study was to examine the association of maternal and paternal height with pregnancy length, and with the risk of pre- and post-term birth. In addition we aimed to study whether cardiovascular risk factors could explain possible associations. Methods Parents who participated in the Nord-Trøndelag Health Study (HUNT 2; 1995–1997) were linked to offspring data from the Medical Birth Registry of Norway (1997–2005). The main analyses included 3497 women who had delivered 5010 children, and 2005 men who had fathered 2798 pregnancies. All births took place after parental participation in HUNT 2. Linear regression was used to estimate crude and adjusted differences in pregnancy length according to parental heights. Logistic regression was used to estimate crude and adjusted associations of parental heights with the risk of pre- and post-term births. Results We found a gradual increase in pregnancy length by increasing maternal height, and the association was essentially unchanged after adjustment for maternal cardiovascular risk factors, parental age, offspring sex, parity, and socioeconomic measures. When estimated date of delivery was based on ultrasound, the difference between mothers in the lower height quintile (<163 cm cm) and mothers in the upper height quintile (≥ 173 cm) was 4.3 days, and when estimated date of delivery was based on last menstrual period (LMP), the difference was 2.8 days. Shorter women (< 163 cm) had lower risk of post-term births, and when estimated date of delivery was based on ultrasound they also had higher risk of pre-term births. Paternal height was not associated with pregnancy length, or with the risks of pre- and post-term births. Conclusions Women with shorter stature had shorter pregnancy length and lower risk of post-term births than taller women, and when EDD was based on ultrasound, they also had higher risk of preterm births. The effect of maternal height was generally stronger when pregnancy length was based on second trimester ultrasound compared to last menstrual period. The association of maternal height with pregnancy length could not be explained by cardiovascular risk factors. Paternal height was neither associated with pregnancy length nor with the risk of pre- and post-term birth. PMID:23383756
Le, Duc-Hau; Pham, Van-Huy
2017-06-15
Finding gene-disease and disease-disease associations play important roles in the biomedical area and many prioritization methods have been proposed for this goal. Among them, approaches based on a heterogeneous network of genes and diseases are considered state-of-the-art ones, which achieve high prediction performance and can be used for diseases with/without known molecular basis. Here, we developed a Cytoscape app, namely HGPEC, based on a random walk with restart algorithm on a heterogeneous network of genes and diseases. This app can prioritize candidate genes and diseases by employing a heterogeneous network consisting of a network of genes/proteins and a phenotypic disease similarity network. Based on the rankings, novel disease-gene and disease-disease associations can be identified. These associations can be supported with network- and rank-based visualization as well as evidences and annotations from biomedical data. A case study on prediction of novel breast cancer-associated genes and diseases shows the abilities of HGPEC. In addition, we showed prominence in the performance of HGPEC compared to other tools for prioritization of candidate disease genes. Taken together, our app is expected to effectively predict novel disease-gene and disease-disease associations and support network- and rank-based visualization as well as biomedical evidences for such the associations.
Shetty, Priya B.; Tang, Hua; Feng, Tao; Tayo, Bamidele; Morrison, Alanna C.; Kardia, Sharon L.R.; Hanis, Craig L.; Arnett, Donna K.; Hunt, Steven C.; Boerwinkle, Eric; Rao, D.C.; Cooper, R.S.; Risch, Neil; Zhu, Xiaofeng
2015-01-01
Background Admixture mapping of lipids was followed-up by family-based association analysis to identify variants for cardiovascular disease in African-Americans. Methods and Results The present study conducted admixture mapping analysis for total cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C) and triglycerides. The analysis was performed in 1,905 unrelated African-American subjects from the National Heart, Lung and Blood Institute’s Family Blood Pressure Program. Regions showing admixture evidence were followed-up with family-based association analysis in 3,556 African-American subjects from the FBPP. The admixture mapping and family-based association analyses were adjusted for age, age2, sex, body-mass-index, and genome-wide mean ancestry to minimize the confounding due to population stratification. Regions that were suggestive of local ancestry association evidence were found on chromosomes 7 (LDL-C), 8 (HDL-C), 14 (triglycerides) and 19 (total cholesterol and triglycerides). In the fine-mapping analysis, 52,939 SNPs were tested and 11 SNPs (8 independent SNPs) showed nominal significant association with HDL-C (2 SNPs), LDL-C (4 SNPs) and triglycerides (5 SNPs). The family data was used in the fine-mapping to identify SNPs that showed novel associations with lipids and regions including genes with known associations for cardiovascular disease. Conclusions This study identified regions on chromosomes 7, 8, 14 and 19 and 11 SNPs from the fine-mapping analysis that were associated with HDL-C, LDL-C and triglycerides for further studies of cardiovascular disease in African-Americans. PMID:25552592
Xu, X-H; Xiong, D-H; Liu, X-G; Guo, Y; Chen, Y; Zhao, J; Recker, R R; Deng, H-W
2010-01-01
This study was conducted to test whether there exists an association between vitamin D-binding protein (DBP) gene and compression strength index (CSI) phenotype. Candidate gene association analyses were conducted in total sample, male subgroup, and female subgroup, respectively. Two single-nucleotide polymorphisms (SNPs) with significant association results were found in males, suggesting the importance of DBP gene polymorphisms on the variation in CSI especially in Caucasian males. CSI of the femoral neck (FN) is a newly developed phenotype integrating information about bone size, body size, and bone mineral density. It is considered to have the potential to improve the performance of risk assessment for hip fractures because it is based on a combination of phenotypic traits influencing hip fractures rather than a single trait. CSI is under moderate genetic determination (with a heritability of approximately 44% found in this study), but the relevant genetic study is still rather scarce. Based on the known physiological role of DBP in bone biology and the relatively high heritability of CSI, we tested 12 SNPs of the DBP gene for association with CSI variation in 405 Caucasian nuclear families comprising 1,873 subjects from the Midwestern US. Association analyses were performed in the total sample, male and female subgroups, respectively. Significant associations with CSI were found with two SNPs (rs222029, P = 0.0019; rs222020, P = 0.0042) for the male subgroup. Haplotype-based association tests corroborated the single-SNP results. Our findings suggest that the DBP gene might be one of the genetic factors influencing CSI phenotype in Caucasians, especially in males.
Russell, Stephen T.
2012-01-01
Sexual minority youth are at risk for negative school-based experiences and poor academic outcomes. Yet, little is known about their experiences in positive school-based contexts. Using the National Longitudinal Study of Adolescent Health (1,214 sexual minority and 11,427 heterosexual participants), this study compared participation rates in, predictors of, and outcomes associated with three types of school-based extracurricular activities - sports, arts, and school clubs - by sexual orientation and gender. Findings revealed several significant sexual orientation and gender differences in participation rates in school-based sports, clubs, and arts activities. Further, findings suggested that the outcomes associated with extracurricular activity involvement do not differ by sexual orientation and gender; however, predictors of participation in these domains varied across groups. PMID:24187476
Nagata, Chisato; Mizoue, Tetsuya; Tanaka, Keitaro; Tsuji, Ichiro; Tamakoshi, Akiko; Wakai, Kenji; Matsuo, Keitaro; Ito, Hidemi; Sasazuki, Shizuka; Inoue, Manami; Tsugane, Shoichiro
2012-02-01
We reviewed epidemiological studies on breastfeeding and breast cancer among Japanese women. This report is part of a series of articles written by our research group, whose aim was to evaluate the existing evidence concerning the association between health-related lifestyles and cancer. Original data were obtained from MEDLINE searches using PubMed or from searches of the Ichushi database, complemented by manual searches. Evaluation of associations was based on the strength of evidence and the magnitude of association, together with biological plausibility. Three cohort studies and five case-control studies were identified. Cohort studies failed to find a significant inverse association between breastfeeding and the risk of breast cancer. Most of the case-control studies observed a statistically significant or non-significant risk reduction for women who ever had breastfed or for women with a longer duration of breastfeeding. Experimental studies have supported the biological plausibility of a protective effect of breastfeeding on breast cancer risk. We conclude that breastfeeding possibly decreases the risk of breast cancer among Japanese women.
Clinical Evidence for Any Effect of Anesthesia on the Developing Brain.
Davidson, Andrew J; Sun, Lena S
2018-04-01
A recent U.S. Food and Drug Administration warning advised that prolonged or repeated exposure to general anesthetics may affect neurodevelopment in children. This warning is based on a wealth of preclinical animal studies and relatively few human studies. The human studies include a variety of different populations with several different outcome measures. Interpreting the results requires consideration of the outcome used, the power of the study, the length of exposure and the efforts to reduce the confounding effects of comorbidity and surgery. Most, but not all, of the large population-based studies find evidence for associations between surgery in early childhood and slightly worse subsequent academic achievement or increased risk for later diagnosis of a behavioral disability. In several studies, the amount of added risk is very small; however, there is some evidence for a greater association with multiple exposures. These results may be consistent with the preclinical data, but the possibility of confounding means the positive associations can only be regarded as weak evidence for causation. Finally, there is strong evidence that brief exposure is not associated with any long term risk in humans.
Kim, Hyun Soo
2018-01-01
Aged population is increasing worldwide due to the aging process that is inevitable. Accordingly, longevity and healthy aging have been spotlighted to promote social contribution of aged population. Many studies in the past few decades have reported the process of aging and longevity, emphasizing the importance of maintaining genomic stability in exceptionally long-lived population. Underlying reason of longevity remains unclear due to its complexity involving multiple factors. With advances in sequencing technology and human genome-associated approaches, studies based on population-based genomic studies are increasing. In this review, we summarize recent longevity and healthy aging studies of human population focusing on DNA repair as a major factor in maintaining genome integrity. To keep pace with recent growth in genomic research, aging- and longevity-associated genomic databases are also briefly introduced. To suggest novel approaches to investigate longevity-associated genetic variants related to DNA repair using genomic databases, gene set analysis was conducted, focusing on DNA repair- and longevity-associated genes. Their biological networks were additionally analyzed to grasp major factors containing genetic variants of human longevity and healthy aging in DNA repair mechanisms. In summary, this review emphasizes DNA repair activity in human longevity and suggests approach to conduct DNA repair-associated genomic study on human healthy aging.
Roper, Courtney; Chubb, Lauren G; Cambal, Leah; Tunno, Brett; Clougherty, Jane E; Fattman, Cheryl; Mischler, Steven E
2017-01-01
Filter-based toxicology studies are conducted to establish the biological plausibility of the well-established health impacts associated with fine particulate matter (PM 2.5 ) exposure. Ambient PM 2.5 collected on filters is extracted into solution for toxicology applications, but frequently, characterization is nonexistent or only performed on filter-based PM 2.5 , without consideration of compositional differences that occur during the extraction processes. To date, the impact of making associations to measured components in ambient instead of extracted PM 2.5 has not been investigated. Filter-based PM 2.5 was collected at locations ( n = 5) and detailed characterization of both ambient and extracted PM 2.5 was performed. Alveolar macrophages (AMJ2-C11) were exposed (3, 24, and 48 h) to PM 2.5 and the pro-inflammatory cytokine interleukin (IL)-6 was measured. IL-6 release differed significantly between PM 2.5 collected from different locations; surprisingly, IL-6 release was highest following treatment with PM 2.5 from the lowest ambient concentration location. IL-6 was negatively correlated with the sum of ambient metals analyzed, as well as with concentrations of specific constituents which have been previously associated with respiratory health effects. However, positive correlations of IL-6 with extracted concentrations indicated that the negative associations between IL-6 and ambient concentrations do not accurately represent the relationship between inflammation and PM 2.5 exposure. Additionally, seven organic compounds had significant associations with IL-6 release when considering ambient concentrations, but they were not detected in the extracted solution. Basing inflammatory associations on ambient concentrations that are not necessarily representative of in vitro exposures creates misleading results; this study highlights the importance of characterizing extraction solutions to conduct accurate health impact research.
Prostate cancer risk and diet, recreational physical activity and cigarette smoking.
Darlington, Gerarda Ann; Kreiger, Nancy; Lightfoot, Nancy; Purdham, James; Sass-Kortsak, Andrea
2007-01-01
Associations between prostate cancer and dietary factors, physical activity and smoking were assessed based on data from a population-based case-control study. The study was conducted among residents of northeastern Ontario. Cases were identified from the Ontario Cancer Registry and diagnosed between 1995 and 1998 at ages 50 to 84 years (N=752). Male controls were identified from telephone listings and were frequency matched to cases on age (N=1,613). Logistic regression analyses investigated history of diet, physical activity and smoking as potential risk factors. Tomato intake had a significant positive association with prostate cancer risk for highest versus lowest quartiles (OR=1.6; 95 percent CI: 1.2-2.0). Associations were observed for tomato or vegetable juices and ketchup (OR=1.5; 95 percent CI: 1.2-1.9; OR=1.2; 95 percent CI: 1.0-1.5, respectively). Neither other dietary variables nor smoking were associated with prostate cancer risk. Strenuous physical activity by men in their early 50s was associated with reduced risk (OR=0.8; 95 percent CI: 0.6-0.9). While the recreational physical activity association was consistent with results from previous studies, the tomato products association was not.
Dankel, Scott J; Loenneke, Jeremy P; Loprinzi, Paul D
2016-12-01
Previous research has demonstrated that physical activity and muscle strengthening activities are independently and inversely associated with metabolic syndrome. Despite a number of studies examining the individual associations, only a few studies have examined the joint associations, and to our knowledge, no previous studies have examined the potential additive interaction of performing muscle strengthening activities and aerobic-based physical activity and their association with metabolic syndrome. Using data from the 2003 to 2006 National Health and Nutrition Examination Survey (NHANES), we computed three separate multivariable logistic regression models to examine the individual, combined, and additive interaction of meeting guidelines for accelerometer-assessed physical activity and self-reported muscle strengthening activities, and their association with metabolic syndrome. We found that individuals meeting physical activity and muscle strengthening activity guidelines, respectively, were at 61 and 25 % lower odds of having metabolic syndrome. Furthermore, individuals meeting both guidelines had the lowest odds of having metabolic syndrome (70 %), in part due to the additive interaction of performing both modes of exercise. In this national sample, accelerometer-assessed physical activity and muscle strengthening activities were synergistically associated with metabolic syndrome.
Parsons, Christine E; Crane, Catherine; Parsons, Liam J; Fjorback, Lone Overby; Kuyken, Willem
2017-08-01
Mindfulness-Based Cognitive Therapy (MBCT) and Mindfulness-Based Stress Reduction (MBSR) emphasize the importance of mindfulness practice at home as an integral part of the program. However, the extent to which participants complete their assigned practice is not yet clear, nor is it clear whether this practice is associated with positive outcomes. For this systematic review and meta-analysis, searches were performed using Scopus and PubMed for studies published through to the end of 2015, reporting on formal home practice of mindfulness by MBSR or MBCT participants. Across 43 studies (N = 1427), the pooled estimate for participants' home practice was 64% of the assigned amount, equating to about 30 minutes per day, six days per week [95% CI 60-69%]. There was substantial heterogeneity associated with this estimate. Across 28 studies (N = 898), there was a small but significant association between participants' self-reported home practice and intervention outcomes (r = 0·26, 95% CI 0·19,-0·34). MBSR and MBCT participants report completing substantial formal mindfulness practice at home over the eight-week intervention, albeit less than assigned amounts. There is a small but significant association between the extent of formal practice and positive intervention outcomes for a wide range of participants. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.
Rodriguez, Francisca S; Schroeter, Matthias L; Witte, A Veronica; Engel, Christoph; Löffler, Markus; Thiery, Joachim; Villringer, Arno; Luck, Tobias; Riedel-Heller, Steffi G
2017-11-01
The study investigated whether high mental demands at work, which have shown to promote a good cognitive functioning in old age, could offset the adverse association between social isolation and cognitive functioning. Based on data from the population-based LIFE-Adult-Study, the association between cognitive functioning (Verbal Fluency Test, Trail Making Test B) and social isolation (Lubben Social Network Scale) as well as mental demands at work (O*NET database) was analyzed via linear regression analyses adjusted for age, sex, education, and sampling weights. Cognitive functioning was significantly lower in socially isolated individuals and in individuals working in low mental demands jobs-even in old age after retirement and even after taking into account the educational level. An interaction effect suggested stronger effects of mental demands at work in socially isolated than nonisolated individuals. The findings suggest that working in high mental-demand jobs could offset the adverse association between social isolation and cognitive functioning. Further research should evaluate how interventions that target social isolation and enhance mentally demanding activities promote a good cognitive functioning in old age. Copyright © 2017 American Association for Geriatric Psychiatry. Published by Elsevier Inc. All rights reserved.
Hospital Value-Based Purchasing: The Association Between Patient Experience and Clinical Outcome.
Haley, D Rob; Hamadi, Hanadi; Zhao, Mei; Xu, Jing; Wang, Yi
The Affordable Care Act of 2010 introduced a Hospital Value-Based Purchasing Total Performance Score for payment purposes and to evaluate hospital quality of care. In fiscal year 2016, Total Performance Score was composed of (1) Clinical Processes of Care, (2) Patient Experience of Care, (3) Outcome, and (4) Efficiency domains. The objective of this study was to examine the association between the Patient Experience of Care and Outcome domains. The Donabedian model of structure, process, and outcome was used as a conceptual framework for this study. Data from the 2015-2016 Area Health Resource File, the 2016 American Hospital Association database, and the 2016 Hospital Value-Based Purchasing were used. Univariate, bivariate, and multivariate analyses were conducted to examine the impact of patient experience on outcome of care and hospitals. From a sample of 1866 hospitals across the United States, patient experience was significantly and positively associated with patient outcome. In addition, for-profit hospitals, hospitals with more beds, nonteaching hospitals, and hospitals located in less competitive markets were found to have a significant association with better outcomes. The study's findings are important as policy makers consider additional or alternative indicators that may better represent and encourage higher quality of care within acute care hospitals.
ADHD Candidate Gene Study in a Population-Based Birth Cohort: Association with DBH and DRD2
ERIC Educational Resources Information Center
Nyman, Emma S.; Ogdie, Matthew N.; Loukola, Anu; Varilo, Teppo; Taanila, Anja; Hurtig, Tuula; Moilanen, Irma K.; Loo, Sandra K.; McGough, James J.; Jarvelin, Marjo-Riitta; Smalley, Susan L.
2007-01-01
A study aims to examine the genetic contribution if any to attention-deficit/hyperactivity disorder (ADHD). The results confirm the hypothesis and the association of dopamine [beta]-hydroxylase and dopamine receptor D2 genes with ADHD.
Introduction: Traffic-related air pollution has been associated with numerous adverse outcomes. However, community health studies of traffic-related air pollution have been hampered by the cost and participant burden associated with estimating household-level exposure through te...
Dinglas, Victor D; Huang, Minxuan; Sepulveda, Kristin A; Pinedo, Mariela; Hopkins, Ramona O; Colantuoni, Elizabeth; Needham, Dale M
2015-01-09
Effective strategies for contacting and recruiting study participants are critical in conducting clinical research. In this study, we conducted two sequential randomized controlled trials of mail- and telephone-based strategies for contacting and recruiting participants, and evaluated participant-related variables' association with time to survey completion and survey completion rates. Subjects eligible for this study were survivors of acute lung injury who had been previously enrolled in a 12-month observational follow-up study evaluating their physical, cognitive and mental health outcomes, with their last study visit completed at a median of 34 months previously. Eligible subjects were contacted to complete a new research survey as part of two randomized trials, initially using a randomized mail-based contact strategy, followed by a randomized telephone-based contact strategy for non-responders to the mail strategy. Both strategies focused on using either a personalized versus a generic approach. In addition, 18 potentially relevant subject-related variables (e.g., demographics, last known physical and mental health status) were evaluated for association with time to survey completion. Of 308 eligible subjects, 67% completed the survey with a median (IQR) of 3 (2, 5) contact attempts required. There was no significant difference in the time to survey completion for either randomized trial of mail- or phone-based contact strategy. Among all subject-related variables, age ≤40 years and minority race were independently associated with a longer time to survey completion. We found that age ≤40 years and minority race were associated with a longer time to survey completion, but personalized versus generic approaches to mail- and telephone-based contact strategies had no significant effect. Repeating both mail and telephone contact attempts was important for increasing survey completion rate. NCT00719446.
Slane, Jennifer D.; Klump, Kelly L.; Donnellan, M. Brent; McGue, Matthew; Iacono, William G.
2013-01-01
Among cluster analytic studies of the personality profiles associated with bulimia nervosa, a group of individuals characterized by emotional lability and behavioral dysregulation (i.e., a dysregulated cluster) has emerged most consistently. However, previous studies have all been cross-sectional and mostly used clinical samples. This study aimed to replicate associations between the dysregulated personality cluster and bulimic symptoms and related characteristics using a longitudinal, population-based sample. Participants were females assessed at ages 17 and 25 from the Minnesota Twin Family Study, clustered based on their personality traits. The Dysregulated cluster was successfully identified at both time points and was more stable across time than either the Resilient or Sensation Seeking clusters. Rates of bulimic symptoms and related behaviors (e.g., alcohol use problems) were also highest in the dysregulated group. Findings suggest that the dysregulated cluster is a relatively stable and robust profile that is associated with bulimic symptoms. PMID:23398096
Gene-Based Testing of Interactions in Association Studies of Quantitative Traits
Ma, Li; Clark, Andrew G.; Keinan, Alon
2013-01-01
Various methods have been developed for identifying gene–gene interactions in genome-wide association studies (GWAS). However, most methods focus on individual markers as the testing unit, and the large number of such tests drastically erodes statistical power. In this study, we propose novel interaction tests of quantitative traits that are gene-based and that confer advantage in both statistical power and biological interpretation. The framework of gene-based gene–gene interaction (GGG) tests combine marker-based interaction tests between all pairs of markers in two genes to produce a gene-level test for interaction between the two. The tests are based on an analytical formula we derive for the correlation between marker-based interaction tests due to linkage disequilibrium. We propose four GGG tests that extend the following P value combining methods: minimum P value, extended Simes procedure, truncated tail strength, and truncated P value product. Extensive simulations point to correct type I error rates of all tests and show that the two truncated tests are more powerful than the other tests in cases of markers involved in the underlying interaction not being directly genotyped and in cases of multiple underlying interactions. We applied our tests to pairs of genes that exhibit a protein–protein interaction to test for gene-level interactions underlying lipid levels using genotype data from the Atherosclerosis Risk in Communities study. We identified five novel interactions that are not evident from marker-based interaction testing and successfully replicated one of these interactions, between SMAD3 and NEDD9, in an independent sample from the Multi-Ethnic Study of Atherosclerosis. We conclude that our GGG tests show improved power to identify gene-level interactions in existing, as well as emerging, association studies. PMID:23468652
Godos, J; Bella, F; Torrisi, A; Sciacca, S; Galvano, F; Grosso, G
2016-12-01
Current evidence suggests that dietary patterns may play an important role in colorectal cancer risk. The present study aimed to perform a systematic review and meta-analysis of observational studies exploring the association between dietary patterns and colorectal adenomas (a precancerous condition). Pubmed and EMBASE electronic databases were systematically searched to retrieve eligible studies. Only studies exploring the risk or association with colorectal adenomas for the highest versus lowest category of exposure to a posteriori dietary patterns were included in the quantitative analysis. Random-effects models were applied to calculate relative risks (RRs) of colorectal adenomas for high adherence to healthy or unhealthy dietary patterns. Statistical heterogeneity and publication bias were explored. Twelve studies were reviewed. Three studies explored a priori dietary patterns using scores identifying adherence to the Mediterranean, Paleolithic and Dietary Approaches to Stop Hypertension (DASH) diet and reported an association with decreased colorectal adenoma risk. Two studies tested the association with colorectal adenomas between a posteriori dietary patterns showing lower odds of disease related to plant-based compared to meat-based dietary patterns. Seven studies identified 23 a posteriori dietary patterns and the analysis revealed that higher adherence to healthy and unhealthy dietary patterns was significantly associated risk of colorectal adenomas (RR = 0.81, 95% confidence interval = 0.71, 0.94 and RR = 1.24, 95% confidence interval = 1.13, 1.35, respectively) with no evidence of heterogeneity or publication bias. The results of this systematic review and meta-analysis indicate that dietary patterns may be associated with the risk of colorectal adenomas. © 2016 The British Dietetic Association Ltd.
Klaassen, Ester M M; Penders, John; Jöbsis, Quirijn; van de Kant, Kim D G; Thijs, Carel; Mommers, Monique; van Schayck, Constant P; van Eys, Guillaume; Koppelman, Gerard H; Dompeling, Edward
2015-01-01
The influence of asthma candidate genes on the development from wheeze to asthma in young children still needs to be defined. To link genetic variants in asthma candidate genes to progression of wheeze to persistent wheeze into childhood asthma. In a prospective study, children with recurrent wheeze from the ADEM (Asthma DEtection and Monitoring) study were followed until the age of six. At that age a classification (transient wheeze or asthma) was based on symptoms, lung function and medication use. In 198 children the relationship between this classification and 30 polymorphisms in 16 asthma candidate genes was assessed by logistic regression. In case of an association based on a p<0.10, replication analysis was performed in an independent birth cohort study (KOALA study, n = 248 included for the present analysis). In the ADEM study, the minor alleles of ADAM33 rs511898 and rs528557 and the ORMDL3/GSDMB rs7216389 polymorphisms were negatively associated, whereas the minor alleles of IL4 rs2243250 and rs2070874 polymorphisms were positively associated with childhood asthma. When replicated in the KOALA study, ADAM33 rs528557 showed a negative association of the CG/GG-genotype with progression of recurrent wheeze into childhood asthma (0.50 (0.26-0.97) p = 0.04) and no association with preschool wheeze. Polymorphisms in ADAM33, ORMDL3/GSDMB and IL4 were associated with childhood asthma in a group of children with recurrent wheeze. The replication of the negative association of the CG/GG-genotype of rs528557 ADAM33 with childhood asthma in an independent birth cohort study confirms that a compromised ADAM33 gene may be implicated in the progression of wheeze into childhood asthma.
Tissue Non-Specific Genes and Pathways Associated with Diabetes: An Expression Meta-Analysis.
Mei, Hao; Li, Lianna; Liu, Shijian; Jiang, Fan; Griswold, Michael; Mosley, Thomas
2017-01-21
We performed expression studies to identify tissue non-specific genes and pathways of diabetes by meta-analysis. We searched curated datasets of the Gene Expression Omnibus (GEO) database and identified 13 and five expression studies of diabetes and insulin responses at various tissues, respectively. We tested differential gene expression by empirical Bayes-based linear method and investigated gene set expression association by knowledge-based enrichment analysis. Meta-analysis by different methods was applied to identify tissue non-specific genes and gene sets. We also proposed pathway mapping analysis to infer functions of the identified gene sets, and correlation and independent analysis to evaluate expression association profile of genes and gene sets between studies and tissues. Our analysis showed that PGRMC1 and HADH genes were significant over diabetes studies, while IRS1 and MPST genes were significant over insulin response studies, and joint analysis showed that HADH and MPST genes were significant over all combined data sets. The pathway analysis identified six significant gene sets over all studies. The KEGG pathway mapping indicated that the significant gene sets are related to diabetes pathogenesis. The results also presented that 12.8% and 59.0% pairwise studies had significantly correlated expression association for genes and gene sets, respectively; moreover, 12.8% pairwise studies had independent expression association for genes, but no studies were observed significantly different for expression association of gene sets. Our analysis indicated that there are both tissue specific and non-specific genes and pathways associated with diabetes pathogenesis. Compared to the gene expression, pathway association tends to be tissue non-specific, and a common pathway influencing diabetes development is activated through different genes at different tissues.
Jeppesen, Elisabeth; Bjelland, Ingvar; Fosså, Sophie D; Loge, Jon H; Sørebø, Øystein; Dahl, Alv A
2014-01-01
Severe disease in a parent is associated with increased psychosocial problems in their children. However, moderating factors of such associations are less studied. In this cross-sectional population-based controlled study we examined the moderating effects of a history of parental cancer on the association between impaired health status in parents and psychosocial problems among their teenagers. Among families with both parents responding to the adult Health Survey of Nord-Trøndelag County of Norway (the HUNT-2 study) 71 couples were identified with primary invasive cancer in one parent. Their 81 teenage children took part in the Young-HUNT study. These families were compared to 322 cancer-free families with 328 teenagers. Based on self-report data the relations between three variables of parental impaired health and six psychosocial problems in teenagers were analyzed family wise by structural equation modeling. Significant associations between parental and teenagers' variables were observed in eight of 18 models. A history of parental cancer was a significant moderator which decreased four of eight significant associations. Such a history significantly weakened the associations between parental poor self-rated health and teenagers' anxiety/depression and school problems. A similar association of a history of parental cancer was found between psychological distress in parents and teenagers' feelings of loneliness and poor self-rated health. This study confirmed strong associations between impaired parental health and psychosocial problems in their teenagers. A history of parental cancer weakened several of the significant associations between parental impaired health variables and psychosocial problems in their teenagers. PMID:24723456
Liang, Xueying; Schnetz-Boutaud, Nathalie; Bartlett, Jackie; Allen, Melissa J; Gwirtsman, Harry; Schmechel, Don E; Carney, Regina M; Gilbert, John R; Pericak-Vance, Margaret A; Haines, Jonathan L
2008-01-01
SNP rs498055 in the predicted gene LOC439999 on chromosome 10 was recently identified as being strongly associated with late-onset Alzheimer disease (LOAD). This SNP falls within a chromosomal region that has engendered continued interest generated from both preliminary genetic linkage and candidate gene studies. To independently evaluate this interesting candidate SNP we examined four independent datasets, three family-based and one case-control. All the cases were late-onset AD Caucasian patients with minimum age at onset >or= 60 years. None of the three family samples or the combined family-based dataset showed association in either allelic or genotypic family-based association tests at p < 0.05. Both original and OSA two-point LOD scores were calculated. However, there was no evidence indicating linkage no matter what covariates were applied (the highest LOD score was 0.82). The case-control dataset did not demonstrate any association between this SNP and AD (all p-values > 0.52). Our results do not confirm the previous association, but are consistent with a more recent negative association result that used family-based association tests to examine the effect of this SNP in two family datasets. Thus we conclude that rs498055 is not associated with an increased risk of LOAD.
Heritable DNA methylation marks associated with susceptibility to breast cancer.
Joo, Jihoon E; Dowty, James G; Milne, Roger L; Wong, Ee Ming; Dugué, Pierre-Antoine; English, Dallas; Hopper, John L; Goldgar, David E; Giles, Graham G; Southey, Melissa C
2018-02-28
Mendelian-like inheritance of germline DNA methylation in cancer susceptibility genes has been previously reported. We aimed to scan the genome for heritable methylation marks associated with breast cancer susceptibility by studying 25 Australian multiple-case breast cancer families. Here we report genome-wide DNA methylation measured in 210 peripheral blood DNA samples provided by family members using the Infinium HumanMethylation450. We develop and apply a new statistical method to identify heritable methylation marks based on complex segregation analysis. We estimate carrier probabilities for the 1000 most heritable methylation marks based on family structure, and we use Cox proportional hazards survival analysis to identify 24 methylation marks with corresponding carrier probabilities significantly associated with breast cancer. We replicate an association with breast cancer risk for four of the 24 marks using an independent nested case-control study. Here, we report a novel approach for identifying heritable DNA methylation marks associated with breast cancer risk.
Pandey, Achyut Raj; Devkota, Surya
2016-01-01
Objective. This study aimed to assess the prevalence and associated factors of hypertension in newly declared municipalities of Kathmandu, Nepal. Design, Settings, and Participants. This was a community-based cross-sectional study conducted in the municipalities of Kathmandu District, Nepal, between January and July 2015. Study participants were aged 18 to 70 years, residing permanently in the study sites. Municipalities, Wards, households, and respondents were selected randomly. Results. Of the 587 participants, 58.8% were females, mean (SD) age was 42.3 (13.5) years, 29.3% had no formal education, 35.1% were Brahmins, and 41.2% were homemakers. Prevalence of hypertension was 32.5% (95% CI: 28.7–36.3). Age, gender, education, ethnicity, occupation, smoking, alcohol consumption, physical activity, diabetes, menopausal history, and family history of cardiovascular disease (CVD) and hypertension were significantly associated with hypertension. In multivariable analysis, smoking, alcohol consumption, physical activity, body mass index, and diabetes were identified as significant explanatory variables for hypertension. Conclusion. This study demonstrated that the people living in newly established municipalities of Kathmandu, Nepal, have a high burden of hypertension as well as its associated factors. Therefore, community-based preventive approaches like lifestyle modification and early detection and treatment of hypertension might bring a substantial change in tackling the burden effectively. PMID:27293880
Healthful and Unhealthful Plant-Based Diets and the Risk of Coronary Heart Disease in U.S. Adults.
Satija, Ambika; Bhupathiraju, Shilpa N; Spiegelman, Donna; Chiuve, Stephanie E; Manson, JoAnn E; Willett, Walter; Rexrode, Kathryn M; Rimm, Eric B; Hu, Frank B
2017-07-25
Plant-based diets are recommended for coronary heart disease (CHD) prevention. However, not all plant foods are necessarily beneficial for health. This study sought to examine associations between plant-based diet indices and CHD incidence. We included 73,710 women in NHS (Nurses' Health Study) (1984 to 2012), 92,329 women in NHS2 (1991 to 2013), and 43,259 men in Health Professionals Follow-up Study (1986 to 2012), free of chronic diseases at baseline. We created an overall plant-based diet index (PDI) from repeated semiquantitative food-frequency questionnaire data, by assigning positive scores to plant foods and reverse scores to animal foods. We also created a healthful plant-based diet index (hPDI) where healthy plant foods (whole grains, fruits/vegetables, nuts/legumes, oils, tea/coffee) received positive scores, whereas less-healthy plant foods (juices/sweetened beverages, refined grains, potatoes/fries, sweets) and animal foods received reverse scores. To create an unhealthful PDI (uPDI), we gave positive scores to less-healthy plant foods and reverse scores to animal and healthy plant foods. Over 4,833,042 person-years of follow-up, we documented 8,631 incident CHD cases. In pooled multivariable analysis, higher adherence to PDI was independently inversely associated with CHD (hazard ratio [HR] comparing extreme deciles: 0.92; 95% confidence interval [CI]: 0.83 to 1.01; p trend = 0.003). This inverse association was stronger for hDPI (HR: 0.75; 95% CI: 0.68 to 0.83; p trend <0.001). Conversely, uPDI was positively associated with CHD (HR: 1.32; 95% CI: 1.20 to 1.46; p trend <0.001). Higher intake of a plant-based diet index rich in healthier plant foods is associated with substantially lower CHD risk, whereas a plant-based diet index that emphasizes less-healthy plant foods is associated with higher CHD risk. Copyright © 2017 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.
Psychosocial risk factors associated with cyberbullying among adolescents: a population-based study.
Sourander, Andre; Brunstein Klomek, Anat; Ikonen, Maria; Lindroos, Jarna; Luntamo, Terhi; Koskelainen, Merja; Ristkari, Terja; Helenius, Hans
2010-07-01
To our knowledge, no population study examining psychosocial and psychiatric risk factors associated with cyberbullying among adolescents exists. To study cross-sectional associations between cyberbullying and psychiatric and psychosomatic problems among adolescents. Population-based cross-sectional study. Finland. The sample consists of 2215 Finnish adolescents aged 13 to 16 years with complete information about cyberbullying and cybervictimization. Self-reports of cyberbullying and cybervictimization during the past 6 months. In the total sample, 4.8% were cybervictims only, 7.4% were cyberbullies only, and 5.4% were cyberbully-victims. Cybervictim-only status was associated with living in a family with other than 2 biological parents, perceived difficulties, emotional and peer problems, headache, recurrent abdominal pain, sleeping difficulties, and not feeling safe at school. Cyberbully-only status was associated with perceived difficulties, hyperactivity, conduct problems, low prosocial behavior, frequent smoking and drunkenness, headache, and not feeling safe at school. Cyberbully-victim status was associated with all of these risk factors. Among cybervictims, being cyberbullied by a same-sex or opposite-sex adult, by an unknown person, and by a group of people were associated with fear for safety, indicating possible trauma. Both cyberbullying and cybervictimization are associated with psychiatric and psychosomatic problems. The most troubled are those who are both cyberbullies and cybervictims. This indicates the need for new strategies for cyberbullying prevention and intervention.
A PARTICIPANT-BASED APPROACH TO INDOOR/OUTDOOR AIR MONITORING IN COMMUNITY HEALTH STUDIES
Community health studies of traffic-related air pollution have been hampered by the cost and participant burden associated with collecting household-level exposure data. The current study utilized a novel participant-based approach to collect indoor and outdoor air monitoring da...
*A participant-based approach to indoor/outdoor air monitoring in Community Health Studies
Community health studies of traffic-related air pollution have been hampered by the cost and participant burden associated with collecting household-level exposure data. The current study utilized a participant-based approach to collect indoor and outdoor air monitoring data from...
Shetty, Priya B; Tang, Hua; Feng, Tao; Tayo, Bamidele; Morrison, Alanna C; Kardia, Sharon L R; Hanis, Craig L; Arnett, Donna K; Hunt, Steven C; Boerwinkle, Eric; Rao, Dabeeru C; Cooper, Richard S; Risch, Neil; Zhu, Xiaofeng
2015-02-01
Admixture mapping of lipids was followed-up by family-based association analysis to identify variants for cardiovascular disease in African Americans. The present study conducted admixture mapping analysis for total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides. The analysis was performed in 1905 unrelated African American subjects from the National Heart, Lung and Blood Institute's Family Blood Pressure Program (FBPP). Regions showing admixture evidence were followed-up with family-based association analysis in 3556 African American subjects from the FBPP. The admixture mapping and family-based association analyses were adjusted for age, age(2), sex, body mass index, and genome-wide mean ancestry to minimize the confounding caused by population stratification. Regions that were suggestive of local ancestry association evidence were found on chromosomes 7 (low-density lipoprotein cholesterol), 8 (high-density lipoprotein cholesterol), 14 (triglycerides), and 19 (total cholesterol and triglycerides). In the fine-mapping analysis, 52 939 single-nucleotide polymorphisms (SNPs) were tested and 11 SNPs (8 independent SNPs) showed nominal significant association with high-density lipoprotein cholesterol (2 SNPs), low-density lipoprotein cholesterol (4 SNPs), and triglycerides (5 SNPs). The family data were used in the fine-mapping to identify SNPs that showed novel associations with lipids and regions, including genes with known associations for cardiovascular disease. This study identified regions on chromosomes 7, 8, 14, and 19 and 11 SNPs from the fine-mapping analysis that were associated with high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides for further studies of cardiovascular disease in African Americans. © 2014 American Heart Association, Inc.
Zhe, Shandian; Xu, Zenglin; Qi, Yuan; Yu, Peng
2014-01-01
A key step for Alzheimer's disease (AD) study is to identify associations between genetic variations and intermediate phenotypes (e.g., brain structures). At the same time, it is crucial to develop a noninvasive means for AD diagnosis. Although these two tasks-association discovery and disease diagnosis-have been treated separately by a variety of approaches, they are tightly coupled due to their common biological basis. We hypothesize that the two tasks can potentially benefit each other by a joint analysis, because (i) the association study discovers correlated biomarkers from different data sources, which may help improve diagnosis accuracy, and (ii) the disease status may help identify disease-sensitive associations between genetic variations and MRI features. Based on this hypothesis, we present a new sparse Bayesian approach for joint association study and disease diagnosis. In this approach, common latent features are extracted from different data sources based on sparse projection matrices and used to predict multiple disease severity levels based on Gaussian process ordinal regression; in return, the disease status is used to guide the discovery of relationships between the data sources. The sparse projection matrices not only reveal the associations but also select groups of biomarkers related to AD. To learn the model from data, we develop an efficient variational expectation maximization algorithm. Simulation results demonstrate that our approach achieves higher accuracy in both predicting ordinal labels and discovering associations between data sources than alternative methods. We apply our approach to an imaging genetics dataset of AD. Our joint analysis approach not only identifies meaningful and interesting associations between genetic variations, brain structures, and AD status, but also achieves significantly higher accuracy for predicting ordinal AD stages than the competing methods.
Pathway analysis with next-generation sequencing data.
Zhao, Jinying; Zhu, Yun; Boerwinkle, Eric; Xiong, Momiao
2015-04-01
Although pathway analysis methods have been developed and successfully applied to association studies of common variants, the statistical methods for pathway-based association analysis of rare variants have not been well developed. Many investigators observed highly inflated false-positive rates and low power in pathway-based tests of association of rare variants. The inflated false-positive rates and low true-positive rates of the current methods are mainly due to their lack of ability to account for gametic phase disequilibrium. To overcome these serious limitations, we develop a novel statistic that is based on the smoothed functional principal component analysis (SFPCA) for pathway association tests with next-generation sequencing data. The developed statistic has the ability to capture position-level variant information and account for gametic phase disequilibrium. By intensive simulations, we demonstrate that the SFPCA-based statistic for testing pathway association with either rare or common or both rare and common variants has the correct type 1 error rates. Also the power of the SFPCA-based statistic and 22 additional existing statistics are evaluated. We found that the SFPCA-based statistic has a much higher power than other existing statistics in all the scenarios considered. To further evaluate its performance, the SFPCA-based statistic is applied to pathway analysis of exome sequencing data in the early-onset myocardial infarction (EOMI) project. We identify three pathways significantly associated with EOMI after the Bonferroni correction. In addition, our preliminary results show that the SFPCA-based statistic has much smaller P-values to identify pathway association than other existing methods.
A Model-Based Joint Identification of Differentially Expressed Genes and Phenotype-Associated Genes
Seo, Minseok; Shin, Su-kyung; Kwon, Eun-Young; Kim, Sung-Eun; Bae, Yun-Jung; Lee, Seungyeoun; Sung, Mi-Kyung; Choi, Myung-Sook; Park, Taesung
2016-01-01
Over the last decade, many analytical methods and tools have been developed for microarray data. The detection of differentially expressed genes (DEGs) among different treatment groups is often a primary purpose of microarray data analysis. In addition, association studies investigating the relationship between genes and a phenotype of interest such as survival time are also popular in microarray data analysis. Phenotype association analysis provides a list of phenotype-associated genes (PAGs). However, it is sometimes necessary to identify genes that are both DEGs and PAGs. We consider the joint identification of DEGs and PAGs in microarray data analyses. The first approach we used was a naïve approach that detects DEGs and PAGs separately and then identifies the genes in an intersection of the list of PAGs and DEGs. The second approach we considered was a hierarchical approach that detects DEGs first and then chooses PAGs from among the DEGs or vice versa. In this study, we propose a new model-based approach for the joint identification of DEGs and PAGs. Unlike the previous two-step approaches, the proposed method identifies genes simultaneously that are DEGs and PAGs. This method uses standard regression models but adopts different null hypothesis from ordinary regression models, which allows us to perform joint identification in one-step. The proposed model-based methods were evaluated using experimental data and simulation studies. The proposed methods were used to analyze a microarray experiment in which the main interest lies in detecting genes that are both DEGs and PAGs, where DEGs are identified between two diet groups and PAGs are associated with four phenotypes reflecting the expression of leptin, adiponectin, insulin-like growth factor 1, and insulin. Model-based approaches provided a larger number of genes, which are both DEGs and PAGs, than other methods. Simulation studies showed that they have more power than other methods. Through analysis of data from experimental microarrays and simulation studies, the proposed model-based approach was shown to provide a more powerful result than the naïve approach and the hierarchical approach. Since our approach is model-based, it is very flexible and can easily handle different types of covariates. PMID:26964035
Vitamin K status and vascular calcification: evidence from observational and clinical studies.
Shea, M Kyla; Holden, Rachel M
2012-03-01
Vascular calcification occurs when calcium accumulates in the intima (associated with atherosclerosis) and/or media layers of the vessel wall. Coronary artery calcification (CAC) reflects the calcium burden within the intima and media of the coronary arteries. In population-based studies, CAC independently predicts cardiovascular disease (CVD) and mortality. A preventive role for vitamin K in vascular calcification has been proposed based on its role in activating matrix Gla protein (MGP), a calcification inhibitor that is expressed in vascular tissue. Although animal and in vitro data support this role of vitamin K, overall data from human studies are inconsistent. The majority of population-based studies have relied on vitamin K intake to measure status. Phylloquinone is the primary dietary form of vitamin K and available supplementation trials, albeit limited, suggest phylloquinone supplementation is relevant to CAC. Yet observational studies have found higher dietary menaquinone, but not phylloquinone, to be associated with less calcification. Vascular calcification is highly prevalent in certain patient populations, especially in those with chronic kidney disease (CKD), and it is plausible vitamin K may contribute to reducing vascular calcification in patients at higher risk. Subclinical vitamin K deficiency has been reported in CKD patients, but studies linking vitamin K status to calcification outcomes in CKD are needed to clarify whether or not improving vitamin K status is associated with improved vascular health in CKD. This review summarizes the available evidence of vitamin K and vascular calcification in population-based studies and clinic-based studies, with a specific focus on CKD patients.
Ngueta, Gerard; Longnecker, Matthew P; Yoon, Miyoung; Ruark, Christopher D; Clewell, Harvey J; Andersen, Melvin E; Verner, Marc-André
2017-07-01
An association between serum levels of perfluoroalkyl substances (PFAS) and endometriosis has recently been reported in an epidemiologic study. Oral contraceptive use to treat dysmenorrhea (pelvic pain associated with endometriosis) could potentially influence this association by reducing menstrual fluid loss, a route of excretion for PFAS. In this study, we aimed to evaluate the influence of differential oral contraceptive use on the association between PFAS and endometriosis. We used a published life-stage physiologically based pharmacokinetic (PBPK) model to simulate plasma levels of perfluorooctanoic acid (PFOA) and perfluorooctane sulfonate (PFOS) from birth to age at study participation (range 18-44years). In the simulated population, PFAS level distributions matched those for controls in the epidemiologic study. Prevalence and geometric mean duration (standard deviation [SD]) of oral contraceptive use in the simulated women were based on data from the National Health and Nutrition Examination Survey; among the women with endometriosis the values were, respectively, 29% and 6.8 (3.1) years; among those without endometriosis these values were 18% and 5.3 (2.8) years. In simulations, menstrual fluid loss (ml/cycle) in women taking oral contraceptives was assumed to be 56% of loss in non-users. We evaluated the association between simulated plasma PFAS concentration and endometriosis in the simulated population using logistic regression. Based on the simulations, the association between PFAS levels and endometriosis attributable to differential contraceptive use had an odds ratio (95% CI) of 1.05 (1.02, 1.07) for a log e unit increase in PFOA and 1.03 (1.02, 1.05) for PFOS. In comparison, the epidemiologic study reported odds ratios of 1.62 (0.99, 2.66) for PFOA and 1.25 (0.87, 1.80) for PFOS. Our results suggest that the influence of oral contraceptive use on the association between PFAS levels and endometriosis is relatively small. Copyright © 2017 Elsevier Ltd. All rights reserved.
Jiang, Wei; Yu, Weichuan
2017-02-15
In genome-wide association studies (GWASs) of common diseases/traits, we often analyze multiple GWASs with the same phenotype together to discover associated genetic variants with higher power. Since it is difficult to access data with detailed individual measurements, summary-statistics-based meta-analysis methods have become popular to jointly analyze datasets from multiple GWASs. In this paper, we propose a novel summary-statistics-based joint analysis method based on controlling the joint local false discovery rate (Jlfdr). We prove that our method is the most powerful summary-statistics-based joint analysis method when controlling the false discovery rate at a certain level. In particular, the Jlfdr-based method achieves higher power than commonly used meta-analysis methods when analyzing heterogeneous datasets from multiple GWASs. Simulation experiments demonstrate the superior power of our method over meta-analysis methods. Also, our method discovers more associations than meta-analysis methods from empirical datasets of four phenotypes. The R-package is available at: http://bioinformatics.ust.hk/Jlfdr.html . eeyu@ust.hk. Supplementary data are available at Bioinformatics online. © The Author 2016. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com
Galesloot, Tessel E.; van Dijk, Freerk; Geurts-Moespot, Anneke J.; Girelli, Domenico; Kiemeney, Lambertus A. L. M.; Sweep, Fred C. G. J.; Swertz, Morris A.; van der Meer, Peter; Camaschella, Clara; Toniolo, Daniela; Vermeulen, Sita H.; van der Harst, Pim; Swinkels, Dorine W.
2016-01-01
Serum hepcidin concentration is regulated by iron status, inflammation, erythropoiesis and numerous other factors, but underlying processes are incompletely understood. We studied the association of common and rare single nucleotide variants (SNVs) with serum hepcidin in one Italian study and two large Dutch population-based studies. We genotyped common SNVs with genome-wide association study (GWAS) arrays and subsequently performed imputation using the 1000 Genomes reference panel. Cohort-specific GWAS were performed for log-transformed serum hepcidin, adjusted for age and gender, and results were combined in a fixed-effects meta-analysis (total N 6,096). Six top SNVs (p<5x10-6) were genotyped in 3,821 additional samples, but associations were not replicated. Furthermore, we meta-analyzed cohort-specific exome array association results of rare SNVs with serum hepcidin that were available for two of the three cohorts (total N 3,226), but no exome-wide significant signal (p<1.4x10-6) was identified. Gene-based meta-analyses revealed 19 genes that showed significant association with hepcidin. Our results suggest the absence of common SNVs and rare exonic SNVs explaining a large proportion of phenotypic variation in serum hepcidin. We recommend extension of our study once additional substantial cohorts with hepcidin measurements, GWAS and/or exome array data become available in order to increase power to identify variants that explain a smaller proportion of hepcidin variation. In addition, we encourage follow-up of the potentially interesting genes that resulted from the gene-based analysis of low-frequency and rare variants. PMID:27846281
Sangrós, F Javier; Torrecilla, Jesús; Giráldez-García, Carolina; Carrillo, Lourdes; Mancera, José; Mur, Teresa; Franch, Josep; Díez, Javier; Goday, Albert; Serrano, Rosario; García-Soidán, F Javier; Cuatrecasas, Gabriel; Igual, Dimas; Moreno, Ana; Millaruelo, J Manuel; Carramiñana, Francisco; Ruiz, Manuel Antonio; Pérez, Francisco Carlos; Iriarte, Yon; Lorenzo, Ángela; González, María; Álvarez, Beatriz; Barutell, Lourdes; Mayayo, M Soledad; Del Castillo, Mercedes; Navarro, Emma; Malo, Fernando; Cambra, Ainhoa; López, Riánsares; Gutiérrez, M Ángel; Gutiérrez, Luisa; Boente, Carmen; Mediavilla, J Javier; Prieto, Luis; Mendo, Luis; Mansilla, M José; Ortega, Francisco Javier; Borras, Antonia; Sánchez, L Gabriel; Obaya, J Carlos; Alonso, Margarita; García, Francisco; Gutiérrez, Ángela Trinidad; Hernández, Ana M; Suárez, Dulce; Álvarez, J Carlos; Sáenz, Isabel; Martínez, F Javier; Casorrán, Ana; Ripoll, Jazmín; Salanova, Alejandro; Marín, M Teresa; Gutiérrez, Félix; Innerárity, Jaime; Álvarez, M Del Mar; Artola, Sara; Bedoya, M Jesús; Poveda, Santiago; Álvarez, Fernando; Brito, M Jesús; Iglesias, Rosario; Paniagua, Francisca; Nogales, Pedro; Gómez, Ángel; Rubio, José Félix; Durán, M Carmen; Sagredo, Julio; Gijón, M Teresa; Rollán, M Ángeles; Pérez, Pedro P; Gamarra, Javier; Carbonell, Francisco; García-Giralda, Luis; Antón, J Joaquín; de la Flor, Manuel; Martínez, Rosario; Pardo, José Luis; Ruiz, Antonio; Plana, Raquel; Macía, Ramón; Villaró, Mercè; Babace, Carmen; Torres, José Luis; Blanco, Concepción; Jurado, Ángeles; Martín, José Luis; Navarro, Jorge; Sanz, Gloria; Colas, Rafael; Cordero, Blanca; de Castro, Cristina; Ibáñez, Mercedes; Monzón, Alicia; Porta, Nuria; Gómez, María Del Carmen; Llanes, Rafael; Rodríguez, J José; Granero, Esteban; Sánchez, Manuel; Martínez, Juan; Ezkurra, Patxi; Ávila, Luis; de la Sen, Carlos; Rodríguez, Antonio; Buil, Pilar; Gabriel, Paula; Roura, Pilar; Tarragó, Eduard; Mundet, Xavier; Bosch, Remei; González, J Carles; Bobé, M Isabel; Mata, Manel; Ruiz, Irene; López, Flora; Birules, Marti; Armengol, Oriol; de Miguel, Rosa Mar; Romera, Laura; Benito, Belén; Piulats, Neus; Bilbeny, Beatriz; Cabré, J José; Cos, Xavier; Pujol, Ramón; Seguí, Mateu; Losada, Carmen; de Santiago, A María; Muñoz, Pedro; Regidor, Enrique
2018-03-01
Some anthropometric measurements show a greater capacity than others to identify the presence of cardiovascular risk factors. This study estimated the magnitude of the association of different anthropometric indicators of obesity with hypertension, dyslipidemia, and prediabetes (altered fasting plasma glucose and/or glycosylated hemoglobin). Cross-sectional analysis of information collected from 2022 participants in the PREDAPS study (baseline phase). General obesity was defined as body mass index ≥ 30kg/m 2 and abdominal obesity was defined with 2 criteria: a) waist circumference (WC) ≥ 102cm in men/WC ≥ 88cm in women, and b) waist-height ratio (WHtR) ≥ 0.55. The magnitude of the association was estimated by logistic regression. Hypertension showed the strongest association with general obesity in women (OR, 3.01; 95%CI, 2.24-4.04) and with abdominal obesity based on the WHtR criterion in men (OR, 3.65; 95%CI, 2.66-5.01). Hypertriglyceridemia and low levels of high-density lipoprotein cholesterol showed the strongest association with abdominal obesity based on the WHtR criterion in women (OR, 2.49; 95%CI, 1.68-3.67 and OR, 2.70; 95%CI, 1.89-3.86) and with general obesity in men (OR, 2.06; 95%CI, 1.56-2.73 and OR, 1.68; 95%CI, 1.21-2.33). Prediabetes showed the strongest association with abdominal obesity based on the WHtR criterion in women (OR, 2.48; 95%CI, 1.85-3.33) and with abdominal obesity based on the WC criterion in men (OR, 2.33; 95%CI, 1.75-3.08). Abdominal obesity indicators showed the strongest association with the presence of prediabetes. The association of anthropometric indicators with hypertension and dyslipidemia showed heterogeneous results. Copyright © 2017 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.
Li, Wen; Fan, Chun Chieh; Mäki-Marttunen, Tuomo; Thompson, Wesley K; Schork, Andrew J; Bettella, Francesco; Djurovic, Srdjan; Dale, Anders M; Andreassen, Ole A; Wang, Yunpeng
2018-06-01
Traditional genome-wide association studies (GWAS) have successfully detected genetic variants associated with schizophrenia. However, only a small fraction of heritability can be explained. Gene-set/pathway-based methods can overcome limitations arising from single nucleotide polymorphism (SNP)-based analysis, but most of them place constraints on size which may exclude highly specific and functional sets, like macromolecules. Voltage-gated calcium (Ca v ) channels, belonging to macromolecules, are composed of several subunits whose encoding genes are located far away or even on different chromosomes. We combined information about such molecules with GWAS data to investigate how functional channels associated with schizophrenia. We defined a biologically meaningful SNP-set based on channel structure and performed an association study by using a validated method: SNP-set (sequence) kernel association test. We identified eight subtypes of Ca v channels significantly associated with schizophrenia from a subsample of published data (N = 56,605), including the L-type channels (Ca v 1.1, Ca v 1.2, Ca v 1.3), P-/Q-type Ca v 2.1, N-type Ca v 2.2, R-type Ca v 2.3, T-type Ca v 3.1, and Ca v 3.3. Only genes from Ca v 1.2 and Ca v 3.3 have been implicated by the largest GWAS (N = 82,315). Each subtype of Ca v channels showed relatively high chip heritability, proportional to the size of its constituent gene regions. The results suggest that abnormalities of Ca v channels may play an important role in the pathophysiology of schizophrenia and these channels may represent appropriate drug targets for therapeutics. Analyzing subunit-encoding genes of a macromolecule in aggregate is a complementary way to identify more genetic variants of polygenic diseases. This study offers the potential of power for discovery the biological mechanisms of schizophrenia. © 2018 Wiley Periodicals, Inc.
Montgomery, Brooke E. E.; Stewart, Katharine E.; Bryant, Keneshia J.; Ounpraseuth, Songthip T.
2014-01-01
Research has shown a relationship between depression, substance use, and religiosity but, few have investigated this relationship in a community sample of drug-using African Americans. This study examined the relationship between dimensions of religion (positive and negative religious coping, private and public religious participation, religious preference, and God-based, clergy-based, and congregation-based religious support), depression symptomatology, and substance use among 223 African American cocaine users. After controlling for gender, employment, and age, greater congregation-based support and greater clergy-based support were associated with fewer reported depressive symptoms. Additionally, greater congregation-based support was associated with less alcohol use. PMID:24564561
USDA-ARS?s Scientific Manuscript database
The objective of the present study was to assess the relationship between lifestyle factors and abdominal subcutaneous adipose tissue (SAT) and visceral adipose tissue (VAT) in a community-based setting. Cross-sectional associations between lifestyle factors (dietary quality, physical activity, smo...
ERIC Educational Resources Information Center
Greven, Corina U.; Asherson, Philip; Rijsdijk, Fruhling V.; Plomin, Robert
2011-01-01
DSM-IV distinguishes two symptom domains of attention deficit hyperactivity disorder (ADHD): inattentiveness and hyperactivity-impulsivity. The present study examines the aetiologies and developmental relations underlying the associations between inattentiveness and hyperactivity-impulsivity over time, based on a representative population sample…
Friedrich, Nele; Schneider, Harald J; Spielhagen, Christin; Markus, Marcello Ricardo Paulista; Haring, Robin; Grabe, Hans J; Buchfelder, Michael; Wallaschofski, Henri; Nauck, Matthias
2011-10-01
Prolactin (PRL) is involved in immune regulation and may contribute to an atherogenic phenotype. Previous results on the association of PRL with inflammatory biomarkers have been conflicting and limited by small patient studies. Therefore, we used data from a large population-based sample to assess the cross-sectional associations between serum PRL concentration and high-sensitivity C-reactive protein (hsCRP), fibrinogen, interleukin-6 (IL-6), and white blood cell (WBC) count. From the population-based Study of Health in Pomerania (SHIP), a total of 3744 subjects were available for the present analyses. PRL and inflammatory biomarkers were measured. Linear and logistic regression models adjusted for age, sex, body-mass-index, total cholesterol and glucose were analysed. Multivariable linear regression models revealed a positive association of PRL with WBC. Multivariable logistic regression analyses showed a significant association of PRL with increased IL-6 in non-smokers [highest vs lowest quintile: odds ratio 1·69 (95% confidence interval 1·10-2·58), P = 0·02] and smokers [OR 2·06 (95%-CI 1·10-3·89), P = 0·02]. Similar results were found for WBC in non-smokers [highest vs lowest quintile: OR 2·09 (95%-CI 1·21-3·61), P = 0·01)] but not in smokers. Linear and logistic regression analyses revealed no significant associations of PRL with hsCRP or fibrinogen. Serum PRL concentrations are associated with inflammatory biomarkers including IL-6 and WBC, but not hsCRP or fibrinogen. The suggested role of PRL in inflammation needs further investigation in future prospective studies. © 2011 Blackwell Publishing Ltd.
Törnell, S; Ekéus, C; Hultin, M; Håkansson, S; Thunberg, J; Högberg, U
2015-04-01
Maternal intrapartum fever (MF) is associated with neonatal sequelae, and women in labour who receive epidural analgesia (EA) are more likely to develop hyperthermia. The aims of this study were to investigate if EA and/or a diagnosis of MF were associated to adverse neonatal outcomes at a population level. Population-based register study with data from the Swedish Birth Register and the Swedish National Patient Register, including all nulliparae (n=294,329) with singleton pregnancies who gave birth at term in Sweden 1999-2008. Neonatal outcomes analysed were Apgar score (AS)<7 at 5 min and ICD-10 diagnosis of neonatal encephalopathy (e.g. convulsions or neonatal cerebral ischaemia). Multivariate logistic regression was used to calculate adjusted odds ratios (AOR) with 95% confidence intervals (CI). EA was used in 44% of the deliveries. Low AS or encephalopathy was found in 1.26% and 0.39% of the children in the EA group compared with 0.80% and 0.29% in the control group. In multivariate analysis, EA was associated with increased risk with low AS, AOR 1.27 (95% CI 1.16-1.39), but not with diagnosis of encephalopathy, 1.11 (0.96-1.29). A diagnosis of MF was associated with increased risk for both low AS, 2.27 (1.71-3.02), and of neonatal encephalopathy, 1.97 (1.19-3.26). Diagnosis of MF was associated with low AS and neonatal encephalopathy, whereas EA was only associated with low AS and not with neonatal encephalopathy. The found associations might be a result of confounding by indication, which is difficult to assess in a registry-based population study. © 2015 The Acta Anaesthesiologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.
Millman, Kim; Black, Carolyn M; Stamm, Walter E; Jones, Robert B; Hook, Edward W; Martin, David H; Bolan, Gail; Tavaré, Simon; Dean, Deborah
2006-03-01
Chlamydia trachomatis is the leading cause of bacterial sexually transmitted diseases worldwide. Urogenital strains are classified into serotypes and genotypes based on the major outer membrane protein and its gene, ompA, respectively. Studies of the association of serotypes with clinical signs and symptoms have produced conflicting results while no studies have evaluated associations with ompA polymorphisms. We designed a population-based cross-sectional study of 344 men and women with urogenital chlamydial infections (excluding co-pathogen infections) presenting to clinics serving five U.S. cities from 1995 to 1997. Signs, symptoms and sequelae of chlamydial infection (mucopurulent cervicitis, vaginal or urethral discharge; dysuria; lower abdominal pain; abnormal vaginal bleeding; and pelvic inflammatory disease) were analyzed for associations with serotype and ompA polymorphisms. One hundred and fifty-three (44.5%) of 344 patients had symptoms consistent with urogenital chlamydial infection. Gender, reason for visit and city were significant independent predictors of symptom status. Men were 2.2 times more likely than women to report any symptoms (P=0.03) and 2.8 times more likely to report a urethral discharge than women were to report a vaginal discharge in adjusted analyses (P=0.007). Differences in serotype or ompA were not predictive except for an association between serotype F and pelvic inflammatory disease (P=0.046); however, the number of these cases was small. While there was no clinically prognostic value associated with serotype or ompA polymorphism for urogenital chlamydial infections except for serotype F, future studies might utilize multilocus genomic typing to identify chlamydial strains associated with clinical phenotypes.
Rottmann, M; Mielck, A
2014-02-01
'Walkability' is mainly assessed by the NEWS questionnaire (Neighbourhood Environment Walkability Scale); in Germany this questionnaire is widely unknown. We now try to fill this gap by providing a systematic overview of empirical studies based on the NEWS. A systematic review was conducted concerning original papers including empirical analyses based on the NEWS. The results are summarised and presented in tables. Altogether 31 publications could be identified. Most of them focus on associations with the variable 'physical activity', and they often report significant associations with at least some of the scales included in the NEWS. Due to methodological differences between the studies it is difficult to compare the results. The concept of 'walkability' should also be established in the German public health discussion. A number of methodological challenges remain to be solved, such as the identification of those scales and items in the NEWS that show the strongest associations with individual health behaviours. © Georg Thieme Verlag KG Stuttgart · New York.
Hanson, Robert L; Muller, Yunhua L; Kobes, Sayuko; Guo, Tingwei; Bian, Li; Ossowski, Victoria; Wiedrich, Kim; Sutherland, Jeffrey; Wiedrich, Christopher; Mahkee, Darin; Huang, Ke; Abdussamad, Maryam; Traurig, Michael; Weil, E Jennifer; Nelson, Robert G; Bennett, Peter H; Knowler, William C; Bogardus, Clifton; Baier, Leslie J
2014-01-01
Most genetic variants associated with type 2 diabetes mellitus (T2DM) have been identified through genome-wide association studies (GWASs) in Europeans. The current study reports a GWAS for young-onset T2DM in American Indians. Participants were selected from a longitudinal study conducted in Pima Indians and included 278 cases with diabetes with onset before 25 years of age, 295 nondiabetic controls ≥45 years of age, and 267 siblings of cases or controls. Individuals were genotyped on a ∼1M single nucleotide polymorphism (SNP) array, resulting in 453,654 SNPs with minor allele frequency >0.05. SNPs were analyzed for association in cases and controls, and a family-based association test was conducted. Tag SNPs (n = 311) were selected for 499 SNPs associated with diabetes (P < 0.0005 in case-control analyses or P < 0.0003 in family-based analyses), and these SNPs were genotyped in up to 6,834 additional Pima Indians to assess replication. Rs1861612 in DNER was associated with T2DM (odds ratio = 1.29 per copy of the T allele; P = 6.6 × 10(-8), which represents genome-wide significance accounting for the number of effectively independent SNPs analyzed). Transfection studies in murine pancreatic β-cells suggested that DNER regulates expression of notch signaling pathway genes. These studies implicate DNER as a susceptibility gene for T2DM in American Indians.
Rajala, Katja; Kankaanpää, Anna; Laine, Kaarlo; Itkonen, Hannu; Goodman, Elizabeth; Tammelin, Tuija
2018-06-11
This study examined the associations of subjective social status (SSS) with physical activity (PA) and sedentary time (ST) among adolescents. The study population consisted of 420 Finnish adolescents aged 13 to 14 years. The adolescents reported their own SSS within their school (school SSS) and their family's social position within society (society SSS) based on the youth version of the Subjective Social Status Scale. Adolescents' moderate- to vigorous-intensity physical activity (MVPA) and ST were measured objectively by accelerometers and analyzed separately for the whole day and the school day. The associations between SSS and MVPA and ST outcomes were analyzed using multilevel modeling. School SSS was positively associated with whole-day MVPA and negatively associated with school-time ST. Society SSS was not significantly associated with objectively measured MVPA or ST. Both MVPA and ST are important behavioral determinants of health. As an important correlate of MVPA and ST, school SSS should be addressed by providers when discussing obesity risk and healthy behaviors with adolescents.
Mediterranean diet and telomere length in Nurses' Health Study: population based cohort study.
Crous-Bou, Marta; Fung, Teresa T; Prescott, Jennifer; Julin, Bettina; Du, Mengmeng; Sun, Qi; Rexrode, Kathryn M; Hu, Frank B; De Vivo, Immaculata
2014-12-02
To examine whether adherence to the Mediterranean diet was associated with longer telomere length, a biomarker of aging. Population based cohort study. Nurses' Health Study, an ongoing prospective cohort study of 121,700 nurses enrolled in 1976; in 1989-90 a subset of 32,825 women provided blood samples. 4676 disease-free women from nested case-control studies within the Nurses' Health Study with telomere length measured who also completed food frequency questionnaires. Association between relative telomere lengths in peripheral blood leukocytes measured by quantitative real time polymerase chain reaction and Alternate Mediterranean Diet score calculated from self reported dietary data. Greater adherence to the Mediterranean diet was associated with longer telomeres after adjustment for potential confounders. Least squares mean telomere length z scores were -0.038 (SE 0.035) for the lowest Mediterranean diet score groups and 0.072 (0.030) for the highest group (P for trend = 0.004). In this large study, greater adherence to the Mediterranean diet was associated with longer telomeres. These results further support the benefits of adherence to the Mediterranean diet for promoting health and longevity. © Crous-Bou et al 2014.
Mirkovic, Bojan; Laurent, Claudine; Podlipski, Marc-Antoine; Frebourg, Thierry; Cohen, David; Gerardin, Priscille
2016-01-01
Suicidal behaviors (SBs), which range from suicidal ideation to suicide attempts and completed suicide, represent a fatal dimension of mental ill-health. The involvement of genetic risk factors in SB is supported by family, twin, and adoption studies. The aim of this paper is to review recent genetic association studies in SBs including (i) case–control studies, (ii) family-based association studies, and (iii) genome-wide association studies (GWAS). Various studies on genetic associations have tended to suggest that a number of genes [e.g., tryptophan hydroxylase, serotonin receptors and transporters, or brain-derived neurotrophic factors (BDNFs)] are linked to SBs, but these findings are not consistently supported by the results obtained. Although the candidate–gene approach is useful, it is hampered by the present state of knowledge concerning the pathophysiology of diseases. Interpretations of GWAS results are mostly hindered by a lack of annotation describing the functions of most variation throughout the genome. Association studies have addressed a wide range of single-nucleotide polymorphisms in numerous genes. We have included 104 such studies, of which 10 are family-based association studies and 11 are GWAS. Numerous meta-analyses of case–control studies have shown significant associations of SB with variants in the serotonin transporter gene (5-HTT or SLC6A4) and the tryptophan hydroxylase 1 gene (TPH1), but others report contradictory results. The gene encoding BDNF and its receptor (NTRK2) are also promising candidates. Only two of the GWAS showed any significant associations. Several pathways are mentioned in an attempt to understand the lack of reproducibility and the disappointing results. Consequently, we review and discuss here the following aspects: (i) sample characteristics and confounding factors; (ii) statistical limits; (iii) gene–gene interactions; (iv) gene, environment, and by time interactions; and (v) technological and theoretical limits. PMID:27721799
Genome-wide association studies and epigenome-wide association studies go together in cancer control
Verma, Mukesh
2016-01-01
Completion of the human genome a decade ago laid the foundation for: using genetic information in assessing risk to identify individuals and populations that are likely to develop cancer, and designing treatments based on a person's genetic profiling (precision medicine). Genome-wide association studies (GWAS) completed during the past few years have identified risk-associated single nucleotide polymorphisms that can be used as screening tools in epidemiologic studies of a variety of tumor types. This led to the conduct of epigenome-wide association studies (EWAS). This article discusses the current status, challenges and research opportunities in GWAS and EWAS. Information gained from GWAS and EWAS has potential applications in cancer control and treatment. PMID:27079684
2012-01-01
Background Contemporary dairy breeding goals have broadened to include, along with milk production traits, a number of non-production-related traits in an effort to improve the overall functionality of the dairy cow. Increased indirect selection for resistance to mastitis, one of the most important production-related diseases in the dairy sector, via selection for reduced somatic cell count has been part of these broadened goals. A number of genome-wide association studies have identified genetic variants associated with milk production traits and mastitis resistance, however the majority of these studies have been based on animals which were predominantly kept in confinement and fed a concentrate-based diet (i.e. high-input production systems). This genome-wide association study aims to detect associations using genotypic and phenotypic data from Irish Holstein-Friesian cattle fed predominantly grazed grass in a pasture-based production system (low-input). Results Significant associations were detected for milk yield, fat yield, protein yield, fat percentage, protein percentage and somatic cell score using separate single-locus, frequentist and multi-locus, Bayesian approaches. These associations were detected using two separate populations of Holstein-Friesian sires and cows. In total, 1,529 and 37 associations were detected in the sires using a single SNP regression and a Bayesian method, respectively. There were 103 associations in common between the sires and cows across all the traits. As well as detecting associations within known QTL regions, a number of novel associations were detected; the most notable of these was a region of chromosome 13 associated with milk yield in the population of Holstein-Friesian sires. Conclusions A total of 276 of novel SNPs were detected in the sires using a single SNP regression approach. Although obvious candidate genes may not be initially forthcoming, this study provides a preliminary framework upon which to identify the causal mechanisms underlying the various milk production traits and somatic cell score. Consequently this will deepen our understanding of how these traits are expressed. PMID:22449276
Aarts, Nikkie; Noordam, Raymond; Hofman, Albert; Tiemeier, Henning; Stricker, Bruno H; Visser, Loes E
2016-10-01
Background Population-based studies investigating indications for antidepressant prescribing mostly rely on diagnoses from general practitioners. However, diagnostic codes might be incomplete and drugs may be prescribed 'off-label' for indications not investigated in clinical trials. Objective We aimed to study indications for antidepressant use based on self-report. Also, we studied the presence of depressive symptoms associated with the self-reported indications. Setting Our study population of antidepressant users was selected based on interview data between 1997 and 2013 from the prospective population-based Rotterdam Study cohort (age >45 years). Method Antidepressant use, self-reported indication for use, and presence of depressive symptoms (Center for Epidemiological Studies Depression Scale) were based on interview. Self-reported indications were categorized by the researchers into officially approved, clinically-accepted and commonly mentioned off-label indications. Main outcome measures A score of 16 and higher on the Center for Epidemiological Studies Depression Scale was considered as indicator for clinically-relevant depressive symptoms. Results The majority of 914 antidepressant users reported 'depression' (52.4 %) as indication for treatment. Furthermore, anxiety, stress and sleep disorders were reported in selective serotonin reuptake inhibitor and other antidepressant users (ranging from 5.9 to 13.3 %). The indication 'pain' was commonly mentioned by tricyclic antidepressant users (19.0 %). Indications were statistically significantly associated with higher depressive symptom scores when compared to non-users (n = 10,979). Conclusions Depression was the main indication for antidepressant treatment. However, our findings suggest that antidepressants are also used for off-label indications, subthreshold disorders and complex situations, which were all associated with clinically-relevant depressive symptoms in the middle-aged and elderly population.
Tan, Xiang-Lin; Moyer, Ann M.; Fridley, Brooke L.; Schaid, Daniel J.; Niu, Nifang; Batzler, Anthony J.; Jenkins, Gregory D.; Abo, Ryan P.; Li, Liang; Cunningham, Julie M.; Sun, Zhifu; Yang, Ping; Wang, Liewei
2011-01-01
Purpose Inherited variability in the prognosis of lung cancer patients treated with platinum-based chemotherapy has been widely investigated. However, the overall contribution of genetic variation to platinum response is not well established. To identify novel candidate SNPs/genes, we performed a genome-wide association study (GWAS) for cisplatin cytotoxicity using lymphoblastoid cell lines (LCLs), followed by an association study of selected SNPs from the GWAS with overall survival (OS) in lung cancer patients. Experimental Design GWAS for cisplatin were performed with 283 ethnically diverse LCLs. 168 top SNPs were genotyped in 222 small cell and 961 non-small cell lung cancer (SCLC, NSCLC) patients treated with platinum-based therapy. Association of the SNPs with OS was determined using the Cox regression model. Selected candidate genes were functionally validated by siRNA knockdown in human lung cancer cells. Results Among 157 successfully genotyped SNPs, 9 and 10 SNPs were top SNPs associated with OS for patients with NSCLC and SCLC, respectively, although they were not significant after adjusting for multiple testing. Fifteen genes, including 7 located within 200 kb up or downstream of the four top SNPs and 8 genes for which expression was correlated with three SNPs in LCLs were selected for siRNA screening. Knockdown of DAPK3 and METTL6, for which expression levels were correlated with the rs11169748 and rs2440915 SNPs, significantly decreased cisplatin sensitivity in lung cancer cells. Conclusions This series of clinical and complementary laboratory-based functional studies identified several candidate genes/SNPs that might help predict treatment outcomes for platinum-based therapy of lung cancer. PMID:21775533
Pietrzak, Robert H; Scott, James Cobb; Harel, Brian T; Lim, Yen Ying; Snyder, Peter J; Maruff, Paul
2012-11-01
Alprazolam is a benzodiazepine that, when administered acutely, results in impairments in several aspects of cognition, including attention, learning, and memory. However, the profile (i.e., component processes) that underlie alprazolam-related decrements in visual paired associate learning has not been fully explored. In this double-blind, placebo-controlled, randomized cross-over study of healthy older adults, we used a novel, "process-based" computerized measure of visual paired associate learning to examine the effect of a single, acute 1-mg dose of alprazolam on component processes of visual paired associate learning and memory. Acute alprazolam challenge was associated with a large magnitude reduction in visual paired associate learning and memory performance (d = 1.05). Process-based analyses revealed significant increases in distractor, exploratory, between-search, and within-search error types. Analyses of percentages of each error type suggested that, relative to placebo, alprazolam challenge resulted in a decrease in the percentage of exploratory errors and an increase in the percentage of distractor errors, both of which reflect memory processes. Results of this study suggest that acute alprazolam challenge decreases visual paired associate learning and memory performance by reducing the strength of the association between pattern and location, which may reflect a general breakdown in memory consolidation, with less evidence of reductions in executive processes (e.g., working memory) that facilitate visual paired associate learning and memory. Copyright © 2012 John Wiley & Sons, Ltd.
Seah, Jowy Yi Hoong; Gay, Gibson Ming Wei; Su, Jin; Tai, E-Shyong; Yuan, Jian-Min; Koh, Woon-Puay; Ong, Choon Nam; van Dam, Rob M
2017-01-31
High arachidonic acid (AA; 20:4 n - 6) status may have adverse effects on inflammation and risk of cardiovascular diseases. Concerns about high intake of n - 6 polyunsaturated fatty acids (PUFAs) are based on the premise that endogenous conversion from linoleic acid (LA; 18:2 n - 6) is an important source of AA, but few population-based studies have investigated dietary determinants of AA status. In this study, we examined habitual food consumption in relation to plasma concentrations of AA and other PUFAs in population-based studies. We used cross-sectional data from 269 healthy, ethnic Chinese participants (25-80 years old) with contrasting intakes of fish and red meat from the Singapore Prospective Study Program and 769 healthy participants (44-74 years old) from the Singapore Chinese Health Study as a validation set. Multivariable linear regression was used to examine PUFA intake (% energy) and food sources of PUFA (fish, red meat, poultry, soy and cooking oils) in relation to plasma PUFAs (AA, LA, dihomo-gamma-linolenic acid (DGLA; 20:3 n - 6), alpha-linolenic acid (ALA; 18:3 n - 3), eicosapentaenoic acid (EPA; 20:5 n - 3), and docosahexaenoic acid (DHA; 22:6 n - 3)) concentrations. Higher intake of red meat was associated with higher plasma AA concentrations. High intake of PUFA or PUFA-rich oils was associated with higher plasma ALA but not with plasma AA. Higher intakes of soy were associated with higher ALA and fish with higher DHA and EPA concentrations. These associations were statistically significant (p < 0.05) in both studies. Red meat consumption, but not PUFA or PUFA-rich cooking oil, was associated with circulating AA suggesting that intake of pre-formed AA rather than LA is an important determinant of AA status. A diet high in fish, soy products and polyunsaturated cooking oil, and low in red meat may be associated with an optimal plasma profile of PUFA in this Chinese population.
Nanri, Akiko; Mizoue, Tetsuya; Kurotani, Kayo; Goto, Atsushi; Oba, Shino; Noda, Mitsuhiko; Sawada, Norie; Tsugane, Shoichiro
2015-01-01
Evidence is sparse and contradictory regarding the association between low-carbohydrate diet score and type 2 diabetes risk, and no prospective study examined the association among Asians, who consume greater amount of carbohydrate. We prospectively investigated the association of low-carbohydrate diet score with type 2 diabetes risk. Participants were 27,799 men and 36,875 women aged 45-75 years who participated in the second survey of the Japan Public Health Center-Based Prospective Study and who had no history of diabetes. Dietary intake was ascertained by using a validated food-frequency questionnaire, and low-carbohydrate diet score was calculated from total carbohydrate, fat, and protein intake. The scores for high animal protein and fat or for high plant protein and fat were also calculated. Odds ratios of self-reported, physician-diagnosed type 2 diabetes over 5-year were estimated by using logistic regression. During the 5-year period, 1191 new cases of type 2 diabetes were self-reported. Low-carbohydrate diet score for high total protein and fat was significantly associated with a decreased risk of type 2 diabetes in women (P for trend <0.001); the multivariable-adjusted odds ratio of type 2 diabetes for the highest quintile of the score were 0.63 (95% confidence interval 0.46-0.84), compared with those for the lowest quintile. Additional adjustment for dietary glycemic load attenuated the association (odds ratio 0.75, 95% confidence interval 0.45-1.25). When the score separated for animal and for plant protein and fat, the score for high animal protein and fat was inversely associated with type 2 diabetes in women, whereas the score for high plant protein and fat was not associated in both men and women. Low-carbohydrate diet was associated with decreased risk of type 2 diabetes in Japanese women and this association may be partly attributable to high intake of white rice. The association for animal-based and plant-based low-carbohydrate diet warrants further investigation.
Hawley, Wayne R; Witty, Christine F; Daniel, Jill M; Dohanich, Gary P
2015-08-01
One principle of the multiple memory systems hypothesis posits that the hippocampus-based and striatum-based memory systems compete for control over learning. Consistent with this notion, previous research indicates that the cholinergic system of the hippocampus plays a role in modulating the preference for a hippocampus-based place learning strategy over a striatum-based stimulus--response learning strategy. Interestingly, in the hippocampus, greater activity and higher protein levels of choline acetyltransferase (ChAT), the enzyme that synthesizes acetylcholine, are associated with better performance on hippocampus-based learning and memory tasks. With this in mind, the primary aim of the current study was to determine if higher levels of ChAT and the high-affinity choline uptake transporter (CHT) in the hippocampus were associated with a preference for a hippocampus-based place learning strategy on a task that also could be solved by relying on a striatum-based stimulus--response learning strategy. Results confirmed that levels of ChAT in the dorsal region of the hippocampus were associated with a preference for a place learning strategy on a water maze task that could also be solved by adopting a stimulus-response learning strategy. Consistent with previous studies, the current results support the hypothesis that the cholinergic system of the hippocampus plays a role in balancing competition between memory systems that modulate learning strategy preference. Copyright © 2015 Elsevier B.V. All rights reserved.
Lyngsø, Julie; Ramlau-Hansen, Cecilia Høst; Bay, Bjørn; Ingerslev, Hans Jakob; Hulman, Adam; Kesmodel, Ulrik Schiøler
2017-01-01
The aim was to investigate whether coffee or caffeine consumption is associated with reproductive endpoints among women with natural fertility (ie, time to pregnancy [TTP] and spontaneous abortion [SAB]) and among women in fertility treatment (ie, clinical pregnancy rate or live birth rate). This study was a systematic review and dose-response meta-analysis including data from case-control and cohort studies. An extensive literature search was conducted in MEDLINE and Embase, with no time and language restrictions. Also, reference lists were searched manually. Two independent reviewers assessed the manuscript quality using the Newcastle-Ottawa Scale (NOS). A two-stage dose-response meta-analysis was applied to assess a potential association between coffee/caffeine consumption and the outcomes: TTP, SAB, clinical pregnancy, and live birth. Heterogeneity between studies was assessed using Cochrane Q -test and I 2 statistics. Publication bias was assessed using Egger's regression test. The pooled results showed that coffee/caffeine consumption is associated with a significantly increased risk of SAB for 300 mg caffeine/day (relative risk [RR]: 1.37, 95% confidence interval [95% CI]: 1.19; 1.57) and for 600 mg caffeine/day (RR: 2.32, 95% CI: 1.62; 3.31). No association was found between coffee/caffeine consumption and outcomes of fertility treatment (based on two studies). No clear association was found between exposure to coffee/caffeine and natural fertility as measured by fecundability odds ratio (based on three studies) or waiting TTP (based on two studies). Results from this meta-analysis support the growing evidence of an association between coffee/caffeine intake and the risk of SAB. However, viewing the reproductive capacity in a broader perspective, there seems to be little, if any, association between coffee/caffeine consumption and fecundity. In general, results from this study are supportive of a precautionary principle advised by health organizations such as European Food Safety Authority (EFSA) and World Health Organization (WHO), although the advised limit of a maximum of two to three cups of coffee/200-300 mg caffeine per day may be too high.
Lyngsø, Julie; Ramlau-Hansen, Cecilia Høst; Bay, Bjørn; Ingerslev, Hans Jakob; Hulman, Adam; Kesmodel, Ulrik Schiøler
2017-01-01
Objective The aim was to investigate whether coffee or caffeine consumption is associated with reproductive endpoints among women with natural fertility (ie, time to pregnancy [TTP] and spontaneous abortion [SAB]) and among women in fertility treatment (ie, clinical pregnancy rate or live birth rate). Design This study was a systematic review and dose–response meta-analysis including data from case–control and cohort studies. Methods An extensive literature search was conducted in MEDLINE and Embase, with no time and language restrictions. Also, reference lists were searched manually. Two independent reviewers assessed the manuscript quality using the Newcastle–Ottawa Scale (NOS). A two-stage dose–response meta-analysis was applied to assess a potential association between coffee/caffeine consumption and the outcomes: TTP, SAB, clinical pregnancy, and live birth. Heterogeneity between studies was assessed using Cochrane Q-test and I2 statistics. Publication bias was assessed using Egger’s regression test. Results The pooled results showed that coffee/caffeine consumption is associated with a significantly increased risk of SAB for 300 mg caffeine/day (relative risk [RR]: 1.37, 95% confidence interval [95% CI]: 1.19; 1.57) and for 600 mg caffeine/day (RR: 2.32, 95% CI: 1.62; 3.31). No association was found between coffee/caffeine consumption and outcomes of fertility treatment (based on two studies). No clear association was found between exposure to coffee/caffeine and natural fertility as measured by fecundability odds ratio (based on three studies) or waiting TTP (based on two studies). Conclusion Results from this meta-analysis support the growing evidence of an association between coffee/caffeine intake and the risk of SAB. However, viewing the reproductive capacity in a broader perspective, there seems to be little, if any, association between coffee/caffeine consumption and fecundity. In general, results from this study are supportive of a precautionary principle advised by health organizations such as European Food Safety Authority (EFSA) and World Health Organization (WHO), although the advised limit of a maximum of two to three cups of coffee/200–300 mg caffeine per day may be too high. PMID:29276412
Haffar, Samir; Bazerbachi, Fateh; Prokop, Larry; Watt, Kymberly D; Murad, M Hassan; Chari, Suresh T
Acute pancreatitis (AP) in patients with fulminant viral hepatitis is well recognized and its mortality depends on the severity of hepatitis rather than pancreatitis. Acute pancreatitis associated with non-fulminant acute hepatitis A (AHA) has been rarely described, and is considered to have a benign course with good response to conservative management. To perform a systematic review of the frequency and prognosis of AP associated with fulminant or non-fulminant AHA. An increasing number of reports describe AP associated with AHA. Some life-threatening complications related to AP may occur, and death has been reported. In addition, it is possible that early diagnosis of these cases may help in reducing the morbidity and mortality. Ovid Medline In-Process & Other Non-Indexed Citations, Ovid MEDLINE, Ovid EMBASE, Ovid Cochrane Central Register of Controlled Trials, Ovid Cochrane Database of Systematic Reviews, Scopus, Google Scholar, and reference lists of relevant articles. All available studies discussing AP associated with fulminant or non-fulminant AHA. Two blinded independent observers extracted and assessed the frequency of AP associated with AHA based on large studies including all cases of AHA observed during a prolonged period of time, diagnosis of AHA based on anti-HAV IgM, diagnosis of fulminant hepatitis (FH) based on the American Association for the study of Liver Diseases (AASLD) position paper, diagnosis of AP based on the American College of Gastroenterology (ACG) guidelines, diagnosis of AP associated with AHA based on Makharia's association, and diagnosis of AP severity based on the Revision of the Atlanta Classification (RAC). We have developed a tool for risk of bias assessment of case reports and case-series and applied it to the included studies. The frequency of reported AP associated with AHA is 0-0.1%. Thirty-eight publications with a total of 54 patients meeting the inclusion criteria have been published. Twenty-two studies had a low risk for bias, 10 had moderate risk and 6 had high risk. Patients originated from all continents but most of them were from Asia. The median age at diagnosis was 16 years (range: 2-81) with a male to female ratio of 2. The median interval between the onset of jaundice and onset of AP pain was 4 days (range: 0-30). AP was severe in 9% of patients. The median hospital stay for AP was 8 days (range: 3-35). Most cases occur in patients without FH (94%). Mortality was reported in 2 patients (3.7%). Acute pancreatitis associated with AHA is rare with an estimated frequency of 0-0.1%. Fifty-four documented cases, mostly in Asian patients, have been reported. The median age of patients is 16 years with a M/F ratio of 2. Acute pancreatitis occurs less than one week after the onset of jaundice and mostly in patients without FH. Acute pancreatitis in this setting is severe in 9% of patients with a mortality rate similar to all other causes of AP. Copyright © 2017 IAP and EPC. Published by Elsevier B.V. All rights reserved.
ERIC Educational Resources Information Center
Yoshimasu, Kouichi; Barbaresi, William J.; Colligan, Robert C.; Voigt, Robert G.; Killian, Jill M.; Weaver, Amy L.; Katusic, Slavica K.
2012-01-01
Background: To evaluate associations between attention-deficit/hyperactivity disorder (ADHD) and comorbid psychiatric disorders using research-identified incident cases of ADHD and population-based controls. Methods: Subjects included a birth cohort of all children born 1976-1982 remaining in Rochester, MN after age five (n = 5,718). Among them we…
Hwang, Jee-In; Park, Hyeoun-Ae
2015-07-01
This study investigated individual and work-related factors associated with nurses' perceptions of evidence-based practice (EBP) and quality improvement (QI), and the relationships between evidence-based practice, quality improvement and clinical errors. Understanding the factors affecting evidence-based practice and quality improvement activities and their relationships with clinical errors is important for designing strategies to promote evidence-based practice, quality improvement and patient safety. A cross-sectional survey was conducted with 594 nurses in two Korean teaching hospitals using the evidence-based practice Questionnaire and quality improvement scale developed in this study. Four hundred and forty-three nurses (74.6%) returned the completed survey. Nurses' ages and educational levels were significantly associated with evidence-based practice scores whereas age and job position were associated with quality improvement scores. There were positive, moderate correlations between evidence-based practice and quality improvement scores. Nurses who had not made any clinical errors during the past 12 months had significantly higher quality improvement skills scores than those who had. The findings indicated the necessity of educational support regarding evidence-based practice and quality improvement for younger staff nurses who have no master degrees. Enhancing quality improvement skills may reduce clinical errors. Nurse managers should consider the characteristics of their staff when implementing educational and clinical strategies for evidence-based practice and quality improvement. © 2013 John Wiley & Sons Ltd.
Xu, Jinfeng; Yuan, Ao; Zheng, Gang
2012-01-01
Summary In the analysis of case-control genetic association, the trend test and Pearson’s test are the two most commonly used tests. In genome-wide association studies (GWAS), Bayes factor is a useful tool to support significant p-values, and a better measure than p-value when results are compared across studies with different sample sizes. When reporting the p-value of the trend test, we propose a Bayes factor directly based on the trend test. To improve the power to detect association under recessive or dominant genetic models, we propose a Bayes factor based on the trend test and incorporating Hardy-Weinberg disequilibrium in cases. When the true model is unknown, or both the trend test and Pearson’s test or other robust tests are applied in genome-wide scans, we propose a joint Bayes factor, combining the previous two Bayes factors. All three Bayes factors studied in this paper have closed forms and are easy to compute without integrations, so they can be reported along with p-values, especially in GWAS. We discuss how to use each of them and how to specify priors. Simulation studies and applications to three GWAS are provided to illustrate their usefulness to detect non-additive gene susceptibility in practice. PMID:22607017
Self-esteem and Mortality: Prospective Evidence from a Population-based Study
STAMATAKIS, KATHERINE A.; LYNCH, JOHN; EVERSON, SUSAN A.; RAGHUNATHAN, TRIVELLORE; SALONEN, JUKKA T.; KAPLAN, GEORGE A.
2011-01-01
OBJECTIVE Self-esteem is considered to be importantly associated with both psychosocial states such as depression as well as physical health. There are no population-based studies that examine the association between self-esteem and mortality. The objective of this study was to assess whether low self-esteem was prospectively associated with increased risk of death in a population-based sample of Finnish men. METHODS A sample of 2682 male residents of Kuopio, Finland were interviewed and followed prospectively as part of the Kuopio Ischemic Heart Disease Risk Factor Study (KIHD). Characteristics of the KIHD sample at baseline included self-esteem, measured by the Rosenberg ten-item scale, socioeconomic factors, behavioral risk factors, other psychosocial characteristics, and prevalent diseases. Mortality was ascertained through linkage to the Finnish national death registry. We assessed the relationship between self-esteem and all-cause mortality using Cox proportional hazards models. RESULTS Low self-esteem was associated with a two-fold [hazard ratio (HR) = 2.0, 95% confidence interval (CI) = 1.3–3.2] increase in age-adjusted mortality. This relationship was partially explained by behavioral and socioeconomic factors, and prevalent diseases, and fully explained by other psychosocial characteristics (hopelessness, depression, cynical hostility, and sullenness). When adjusted for hopelessness alone there was no increased risk associated with low self-esteem (HR = 1.3, 95% CI = 0.8–2.2). CONCLUSIONS This study found no association between self-esteem and all-cause mortality after adjustment for other psychosocial characteristics, primarily hopelessness. Our understanding of the observed relationships between some psychosocial factors and mortality may be improved by simultaneous measurement of multiple psychosocial domains, thus diminishing the potential for residual confounding. PMID:14664781
Risk factors for first trimester miscarriage--results from a UK-population-based case-control study.
Maconochie, N; Doyle, P; Prior, S; Simmons, R
2007-02-01
The aim of this study was to examine the association between biological, behavioural and lifestyle risk factors and risk of miscarriage. Population-based case-control study. Case-control study nested within a population-based, two-stage postal survey of reproductive histories of women randomly sampled from the UK electoral register. Six hundred and three women aged 18-55 years whose most recent pregnancy had ended in first trimester miscarriage (<13 weeks of gestation; cases) and 6116 women aged 18-55 years whose most recent pregnancy had progressed beyond 12 weeks (controls). Women were questioned about socio-demographic, behavioural and other factors in their most recent pregnancy. First trimester miscarriage. After adjustment for confounding, the following were independently associated with increased risk: high maternal age; previous miscarriage, termination and infertility; assisted conception; low pre-pregnancy body mass index; regular or high alcohol consumption; feeling stressed (including trend with number of stressful or traumatic events); high paternal age and changing partner. Previous live birth, nausea, vitamin supplementation and eating fresh fruits and vegetables daily were associated with reduced risk, as were feeling well enough to fly or to have sex. After adjustment for nausea, we did not confirm an association with caffeine consumption, smoking or moderate or occasional alcohol consumption; nor did we find an association with educational level, socio-economic circumstances or working during pregnancy. The results confirm that advice to encourage a healthy diet, reduce stress and promote emotional wellbeing might help women in early pregnancy (or planning a pregnancy) reduce their risk of miscarriage. Findings of increased risk associated with previous termination, stress, change of partner and low pre-pregnancy weight are noteworthy, and we recommend further work to confirm these findings in other study populations.
Genetic susceptibility for Alzheimer disease neuritic plaque pathology.
Shulman, Joshua M; Chen, Kewei; Keenan, Brendan T; Chibnik, Lori B; Fleisher, Adam; Thiyyagura, Pradeep; Roontiva, Auttawut; McCabe, Cristin; Patsopoulos, Nikolaos A; Corneveaux, Jason J; Yu, Lei; Huentelman, Matthew J; Evans, Denis A; Schneider, Julie A; Reiman, Eric M; De Jager, Philip L; Bennett, David A
2013-09-01
While numerous genetic susceptibility loci have been identified for clinical Alzheimer disease (AD), it is important to establish whether these variants are risk factors for the underlying disease pathology, including neuritic plaques. To investigate whether AD susceptibility loci from genome-wide association studies affect neuritic plaque pathology and to additionally identify novel risk loci for this trait. Candidate analysis of single-nucleotide polymorphisms and genome-wide association study in a joint clinicopathologic cohort, including 725 deceased subjects from the Religious Orders Study and the Rush Memory and Aging Project (2 prospective, community-based studies), followed by targeted validation in an independent neuroimaging cohort, including 114 subjects from multiple clinical and research centers. A quantitative measure of neuritic plaque pathologic burden, based on assessments of silver-stained tissue averaged from multiple brain regions. Validation based on β-amyloid load by immunocytochemistry, and replication with fibrillar β-amyloid positron emission tomographic imaging with Pittsburgh Compound B or florbetapir. Besides the previously reported APOE and CR1 loci, we found that the ABCA7 (rs3764650; P = .02) and CD2AP (rs9349407; P = .03) AD susceptibility loci are associated with neuritic plaque burden. In addition, among the top results of our genome-wide association study, we discovered a novel variant near the amyloid precursor protein gene (APP, rs2829887) that is associated with neuritic plaques (P = 3.3 × 10-6). This polymorphism was associated with postmortem β-amyloid load as well as fibrillar β-amyloid in 2 independent cohorts of adults with normal cognition. These findings enhance understanding of AD risk factors by relating validated susceptibility alleles to increased neuritic plaque pathology and implicate common genetic variation at the APP locus in the earliest, presymptomatic stages of AD.
Toomey, Russell B.; Russell, Stephen T.
2015-01-01
Few studies have investigated school-based, positive development for lesbian, gay, bisexual, and queer (LGBQ) youth, despite knowledge of their heightened negative school experiences compared to heterosexual youth (e.g., school victimization). This study examines associations among participation in Gay-Straight Alliance (GSA)–related social justice activities, GSA presence, and GSA membership with victimization based on sexual orientation and school-based well-being (i.e., school safety, school belongingness, grade point average [GPA]) and future plans to vote. Using data from the Preventing School Harassment Study, a survey of 230 LGBQ students in 7th through 12th grades, the study finds that participation in GSA-related social justice activities and the presence of a GSA are positively associated with school belongingness and GPA. GSA membership is also positively associated with school belongingness. However, moderation analyses suggest that the positive benefits of GSA-related social justice involvement and the presence of a GSA dissipate at high levels of school victimization. Implications for schools are discussed. PMID:26224893
Miranda, Camila Dal-Bó Coradini; Peres, Marco Aurélio
2013-11-01
This study aimed to estimate the prevalence of dental services utilization by adults and to identify associated socioeconomic, demographic, behavioral, and self-awareness factors. A cross-sectional population-based study was conducted with adults living in the urban area of Florianópolis, Santa Catarina State, Brazil, in 2009. Associations were tested between use of dental services and predisposing, enabling, and needs-based variables. Multivariate analysis was conducted using Poisson regression with estimates of prevalence ratios and was stratified by place of last dental appointment. Prevalence of dental services utilization was 66% (95%CI: 62.9-70.7). Dental visits were 20% more frequent among women and 72% more frequent among individuals with more schooling (the latter in both public and private dental services). Individuals with private dental plans used dental services 13% more than those without. Schooling was the most important variable in predicting utilization. The study's results show the importance of monitoring associated factors in order to promote more equitable use of dental services.
Wang, Yao-Chien; Yang, Kai-Wei; Lee, Tien-Ying Peter; Lin, Cheng-Li; Liaw, Geng-Wang; Hung, Dong-Zong; Kao, Chia-Hung; Chen, Wei-Kung; Yang, Tse-Yen
2017-11-01
We designed a population-based retrospective cohort study to investigate the association between the event of alcohol intoxication and the risk of pyogenic liver abscess. The present study enrolled 245,076 patients with a history of alcohol intoxication from 2000 to 2010 and matched each of them with four comparison patients, with similar mean age and sex ratios. We determined the cumulative incidences and adjusted hazard ratios (aHRs) of liver abscess. A significant association was observed between alcohol intoxication and liver abscess. The incidence density rate of liver abscess was 3.47-fold greater in the alcohol intoxication (AI) cohort than in the non-AI cohort (12.2 vs. 3.43 per 10,000 person-years), with an adjusted HR (aHR) of 2.64 (95% CI = 2.26 to 3.08). This population-based study positively associated the event of alcohol intoxication with increased risk of liver abscess. Our findings warrant further large-scale and in-depth investigations in this area. Copyright © 2017 Elsevier Inc. All rights reserved.
Population-based studies of antithyroid drugs and sudden cardiac death
van Noord, Charlotte; Sturkenboom, Miriam C J M; Straus, Sabine M J M; Hofman, Albert; Witteman, Jacqueline C M; Stricker, Bruno H Ch
2009-01-01
AIM Thyroid free T4 is associated with QTc-interval prolongation, which is a risk factor for sudden cardiac death (SCD). Hyperthyroidism has been associated with SCD in case reports, but there are no population-based studies confirming this. The aim was to investigate whether use of antithyroid drugs (as a direct cause or as an indicator of poorly controlled hyperthyroidism) is associated with an increased risk of SCD. METHODS We studied the occurrence of SCD in a two-step procedure in two different Dutch populations. First, the prospective population-based Rotterdam Study including 7898 participants (≥55 years old). Second, we used the Integrated Primary Care Information (IPCI) database, which is a longitudinal general practice research database to see whether we could replicate results from the first study. Drug use at the index date was assessed with prescription information from automated pharmacies (Rotterdam Study) or drug prescriptions from general practices (IPCI). We used a Cox proportional hazards model in a cohort analysis, adjusted for age, gender and use of QTc prolonging drugs (Rotterdam Study) and conditional logistic regression analysis in a case–control analysis, matched for age, gender, practice and calendar time and adjusted for arrhythmia and cerebrovascular ischaemia (IPCI). RESULTS In the Rotterdam Study, 375 participants developed SCD during follow-up. Current use of antithyroid drugs was associated with SCD [adjusted hazard ratio 3.9; 95% confidence interval (CI) 1.7, 8.7]. IPCI included 1424 cases with SCD and 14 443 controls. Also in IPCI, current use of antithyroid drugs was associated with SCD (adjusted odds ratio 2.9; 95% CI 1.1, 7.4). CONCLUSIONS Use of antithyroid drugs was associated with a threefold increased risk of SCD. Although this might be directly caused by antithyroid drug use, it might be more readily explained by underlying poorly controlled hyperthyroidism, since treated patients who developed SCD still had low thyroid-stimulating hormone levels shortly before death. PMID:19740403
Flores-Pajot, Marie-Claire; Ofner, Marianna; Do, Minh T; Lavigne, Eric; Villeneuve, Paul J
2016-11-01
Genetic and environmental factors have been recognized to play an important role in autism. The possibility that exposure to outdoor air pollution increases the risk of autism spectrum disorder (ASD) has been an emerging area of research. Herein, we present a systematic review, and meta-analysis of published epidemiological studies that have investigated these associations. We undertook a comprehensive search strategy to identify studies that investigated outdoor air pollution and autism in children. Overall, seven cohorts and five case-control studies met our inclusion criteria for the meta-analysis. We summarized the associations between exposure to air pollution and ASD based on the following critical exposure windows: (i) first, second and third trimester of pregnancy, (ii) entire pregnancy, and (iii) postnatal period. Random effects meta-analysis modeling was undertaken to derive pooled risk estimates for these exposures across the studies. The meta-estimates for the change in ASD associated with a 10μg/m 3 increase in exposure in PM 2.5 and 10 ppb increase in NO 2 during pregnancy were 1.34 (95% CI:0.83, 2.17) and 1.05 (95% CI:0.99, 1.11), respectively. Stronger associations were observed for exposures received after birth, but these estimates were unstable as they were based on only two studies. O 3 exposure was weakly associated with ASD during the third trimester of pregnancy and during the entire pregnancy, however, these estimates were also based on only two studies. Our meta-analysis support the hypothesis that exposure to ambient air pollution is associated with an increased risk of autism. Our findings should be interpreted cautiously due to relatively small number of studies, and several studies were unable to control for other key risk factors. Copyright © 2016 Elsevier Inc. All rights reserved.
Vassy, Jason L; Shrader, Peter; Jonsson, Anna; Fox, Caroline S; Lyssenko, Valeriya; Isomaa, Bo; Groop, Leif; Meigs, James B; Franks, Paul W
2011-08-01
Parental history of diabetes and specific gene variants are risk factors for type 2 diabetes, but the extent to which these factors are associated is unknown. We examined the association between parental history of diabetes and a type 2 diabetes genetic risk score (GRS) in two cohort studies from Finland (population-based PPP-Botnia study) and the US (family-based Framingham Offspring Study). Mean (95% CI) GRS increased from 16.8 (16.8-16.9) to 16.9 (16.8-17.1) to 17.1 (16.8-17.4) among PPP-Botnia participants with 0, 1, and 2 parents with diabetes, respectively (p(trend)=0.03). The trend was similar among Framingham Offspring but was not statistically significant (p=0.07). The meta-analyzed p value for trend from the two studies was 0.005. The very modest associations reported above suggest that the increased risk of diabetes in offspring of parents with diabetes is largely the result of shared environmental/lifestyle factors and/or hitherto unknown genetic factors. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.
Otowa, Takeshi; Gardner, Charles O; Kendler, Kenneth S; Hettema, John M
2013-11-01
Previous studies consistently identified a relationship between parenting behavior and psychopathology. In this study, we extended prior analyses performed in female twins to a large sample of twins from male-male pairs. We used interview data on 2,609 adult male twins from a population-based twin registry. We examined the association between three retrospectively reported parenting dimensions (coldness, protectiveness, and authoritarianism) and lifetime history of seven common psychiatric and substance use disorders. Using univariate structural equation modeling, we also examined the influence of the genetic and environmental factors on parenting. Examined individually, coldness was consistently associated with risk for a broad range of adult psychopathology. Averaged odds of psychiatric disorders associated with parenting were increased between 26 and 36 %. When the three parenting dimensions were examined together, coldness remained significant for major depression, phobia, and generalized anxiety disorder. Controlling for other disorders, the associations between the parenting dimensions and psychopathology were non-specific. Twin fitting model demonstrated that modest heritability accounted for parenting, whereas most variance resulted from the non-shared environment. Based on our current and prior findings, there is broad similarity in the impact of parenting on adult psychopathology between men and women.
Bender, Anne Mette; Kawachi, Ichiro; Jørgensen, Torben; Pisinger, Charlotta
2015-01-01
We sought to examine whether neighborhood deprivation is associated with participation in a large population-based health check. Such analyses will help answer the question whether health checks, which are designed to meet the needs of residents in deprived neighborhoods, may increase participation and prove to be more effective in preventing disease. In Europe, no study has previously looked at the association between neighborhood deprivation and participation in a population-based health check. The study population comprised 12,768 persons invited for a health check including screening for ischemic heart disease and lifestyle counseling. The study population was randomly drawn from a population of 179,097 persons living in 73 neighborhoods in Denmark. Data on neighborhood deprivation (percentage with basic education, with low income and not in work) and individual socioeconomic position were retrieved from national administrative registers. Multilevel regression analyses with log links and binary distributions were conducted to obtain relative risks, intraclass correlation coefficients and proportional change in variance. Large differences between neighborhoods existed in both deprivation levels and neighborhood health check participation rate (mean 53%; range 35-84%). In multilevel analyses adjusted for age and sex, higher levels of all three indicators of neighborhood deprivation and a deprivation score were associated with lower participation in a dose-response fashion. Persons living in the most deprived neighborhoods had up to 37% decreased probability of participating compared to those living in the least deprived neighborhoods. Inclusion of individual socioeconomic position in the model attenuated the neighborhood deprivation coefficients, but all except for income deprivation remained statistically significant. Neighborhood deprivation was associated with participation in a population-based health check in a dose-response manner, in which increasing neighborhood deprivation was associated with decreasing participation. This suggests the need to develop preventive health checks tailored to deprived neighborhoods.
Hirose, Satoshi; Kimura, Hiroko M.; Jimura, Koji; Kunimatsu, Akira; Abe, Osamu; Ohtomo, Kuni; Miyashita, Yasushi; Konishi, Seiki
2013-01-01
Episodic memory retrieval most often recruits multiple separate processes that are thought to involve different temporal regions. Previous studies suggest dissociable regions in the left lateral parietal cortex that are associated with the retrieval processes. Moreover, studies using resting-state functional connectivity (RSFC) have provided evidence for the temporo-parietal memory networks that may support the retrieval processes. In this functional MRI study, we tested functional significance of the memory networks by examining functional connectivity of brain activity during episodic retrieval in the temporal and parietal regions of the memory networks. Recency judgments, judgments of the temporal order of past events, can be achieved by at least two retrieval processes, relational and item-based. Neuroimaging results revealed several temporal and parietal activations associated with relational/item-based recency judgments. Significant RSFC was observed between one parahippocampal region and one left lateral parietal region associated with relational recency judgments, and between four lateral temporal regions and another left lateral parietal region associated with item-based recency judgments. Functional connectivity during task was found to be significant between the parahippocampal region and the parietal region in the RSFC network associated with relational recency judgments. However, out of the four tempo-parietal RSFC networks associated with item-based recency judgments, only one of them (between the left posterior lateral temporal region and the left lateral parietal region) showed significant functional connectivity during task. These results highlight the contrasting roles of the parahippocampal and the lateral temporal regions in recency judgments, and suggest that only a part of the tempo-parietal RSFC networks are recruited to support particular retrieval processes. PMID:24009657
Yu, Wei; Clyne, Melinda; Dolan, Siobhan M; Yesupriya, Ajay; Wulf, Anja; Liu, Tiebin; Khoury, Muin J; Gwinn, Marta
2008-04-22
Synthesis of data from published human genetic association studies is a critical step in the translation of human genome discoveries into health applications. Although genetic association studies account for a substantial proportion of the abstracts in PubMed, identifying them with standard queries is not always accurate or efficient. Further automating the literature-screening process can reduce the burden of a labor-intensive and time-consuming traditional literature search. The Support Vector Machine (SVM), a well-established machine learning technique, has been successful in classifying text, including biomedical literature. The GAPscreener, a free SVM-based software tool, can be used to assist in screening PubMed abstracts for human genetic association studies. The data source for this research was the HuGE Navigator, formerly known as the HuGE Pub Lit database. Weighted SVM feature selection based on a keyword list obtained by the two-way z score method demonstrated the best screening performance, achieving 97.5% recall, 98.3% specificity and 31.9% precision in performance testing. Compared with the traditional screening process based on a complex PubMed query, the SVM tool reduced by about 90% the number of abstracts requiring individual review by the database curator. The tool also ascertained 47 articles that were missed by the traditional literature screening process during the 4-week test period. We examined the literature on genetic associations with preterm birth as an example. Compared with the traditional, manual process, the GAPscreener both reduced effort and improved accuracy. GAPscreener is the first free SVM-based application available for screening the human genetic association literature in PubMed with high recall and specificity. The user-friendly graphical user interface makes this a practical, stand-alone application. The software can be downloaded at no charge.
Exome Array Analysis of Nuclear Lens Opacity.
Loomis, Stephanie J; Klein, Alison P; Lee, Kristine E; Chen, Fei; Bomotti, Samantha; Truitt, Barbara; Iyengar, Sudha K; Klein, Ronald; Klein, Barbara E K; Duggal, Priya
2018-06-01
Nuclear cataract is the most common subtype of age-related cataract, the leading cause of blindness worldwide. It results from advanced nuclear sclerosis, or opacity in the center of the optic lens, and is affected by both genetic and environmental risk factors, including smoking. We sought to understand the genetic factors associated with nuclear sclerosis through interrogation of rare and low frequency coding variants using exome array data. We analyzed Illumina Human Exome Array data for 1,488 participants of European ancestry in the Beaver Dam Eye Study who were without cataract surgery for association with nuclear sclerosis grade, controlling for age and sex. We performed single-variant regression analysis for 32,138 variants with minor allele frequency (MAF) ≥0.003. In addition, gene-based analysis of 11,844 genes containing at least two variants with MAF < 0.05 was performed using a gene-based unified burden and non-burden sequence kernel association test (SKAT-O). Additionally, both single-variant and gene-based analyses were analyzed stratified by smoking status. No single-variant test was statistically significant after Bonferroni correction (p < 1.6 × 10 -6 ; top single nucleotide polymorphism (SNP): rs144458991, p = 2.83 × 10 -5 ). Gene-based tests were suggestively associated with the gene RNF149 overall (p = 8.29 × 10 -6 ) and among never smokers (N = 790, p = 2.67 × 10 -6 ). This study did not find a significant genetic association with nuclear sclerosis, the possible association with the RNF149 gene highlights a potential candidate gene for future studies that aim to understand the genetic architecture of nuclear sclerosis.
ERIC Educational Resources Information Center
Fowler, Luster
2013-01-01
Healthcare practitioner training programs, specifically at the associate degree level of study, have historically focused practitioner training efforts on discipline-specific programming and curricula. However, these institutions have now begun to examine the utility and efficacy of incorporating interprofessional experiences into their programs.…
A generalized least-squares framework for rare-variant analysis in family data.
Li, Dalin; Rotter, Jerome I; Guo, Xiuqing
2014-01-01
Rare variants may, in part, explain some of the hereditability missing in current genome-wide association studies. Many gene-based rare-variant analysis approaches proposed in recent years are aimed at population-based samples, although analysis strategies for family-based samples are clearly warranted since the family-based design has the potential to enhance our ability to enrich for rare causal variants. We have recently developed the generalized least squares, sequence kernel association test, or GLS-SKAT, approach for the rare-variant analyses in family samples, in which the kinship matrix that was computed from the high dimension genetic data was used to decorrelate the family structure. We then applied the SKAT-O approach for gene-/region-based inference in the decorrelated data. In this study, we applied this GLS-SKAT method to the systolic blood pressure data in the simulated family sample distributed by the Genetic Analysis Workshop 18. We compared the GLS-SKAT approach to the rare-variant analysis approach implemented in family-based association test-v1 and demonstrated that the GLS-SKAT approach provides superior power and good control of type I error rate.
A genome-wide approach to children's aggressive behavior: The EAGLE consortium.
Pappa, Irene; St Pourcain, Beate; Benke, Kelly; Cavadino, Alana; Hakulinen, Christian; Nivard, Michel G; Nolte, Ilja M; Tiesler, Carla M T; Bakermans-Kranenburg, Marian J; Davies, Gareth E; Evans, David M; Geoffroy, Marie-Claude; Grallert, Harald; Groen-Blokhuis, Maria M; Hudziak, James J; Kemp, John P; Keltikangas-Järvinen, Liisa; McMahon, George; Mileva-Seitz, Viara R; Motazedi, Ehsan; Power, Christine; Raitakari, Olli T; Ring, Susan M; Rivadeneira, Fernando; Rodriguez, Alina; Scheet, Paul A; Seppälä, Ilkka; Snieder, Harold; Standl, Marie; Thiering, Elisabeth; Timpson, Nicholas J; Veenstra, René; Velders, Fleur P; Whitehouse, Andrew J O; Smith, George Davey; Heinrich, Joachim; Hypponen, Elina; Lehtimäki, Terho; Middeldorp, Christel M; Oldehinkel, Albertine J; Pennell, Craig E; Boomsma, Dorret I; Tiemeier, Henning
2016-07-01
Individual differences in aggressive behavior emerge in early childhood and predict persisting behavioral problems and disorders. Studies of antisocial and severe aggression in adulthood indicate substantial underlying biology. However, little attention has been given to genome-wide approaches of aggressive behavior in children. We analyzed data from nine population-based studies and assessed aggressive behavior using well-validated parent-reported questionnaires. This is the largest sample exploring children's aggressive behavior to date (N = 18,988), with measures in two developmental stages (N = 15,668 early childhood and N = 16,311 middle childhood/early adolescence). First, we estimated the additive genetic variance of children's aggressive behavior based on genome-wide SNP information, using genome-wide complex trait analysis (GCTA). Second, genetic associations within each study were assessed using a quasi-Poisson regression approach, capturing the highly right-skewed distribution of aggressive behavior. Third, we performed meta-analyses of genome-wide associations for both the total age-mixed sample and the two developmental stages. Finally, we performed a gene-based test using the summary statistics of the total sample. GCTA quantified variance tagged by common SNPs (10-54%). The meta-analysis of the total sample identified one region in chromosome 2 (2p12) at near genome-wide significance (top SNP rs11126630, P = 5.30 × 10(-8) ). The separate meta-analyses of the two developmental stages revealed suggestive evidence of association at the same locus. The gene-based analysis indicated association of variation within AVPR1A with aggressive behavior. We conclude that common variants at 2p12 show suggestive evidence for association with childhood aggression. Replication of these initial findings is needed, and further studies should clarify its biological meaning. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
Dietary patterns and breast cancer risk in the California Teachers Study cohort.
Link, Lilli B; Canchola, Alison J; Bernstein, Leslie; Clarke, Christina A; Stram, Daniel O; Ursin, Giske; Horn-Ross, Pamela L
2013-12-01
Evidence that diet is associated with breast cancer risk is inconsistent. Most studies have examined risks associated with specific foods and nutrients, rather than measures of overall diet. This study aimed to evaluate dietary patterns and their relation to breast cancer risk in a large cohort of women. Data from 91,779 women in the California Teachers Study cohort were analyzed, including data from 4140 women with a diagnosis of invasive breast cancer made between 1995 and 2009. Five predominant dietary patterns were identified by using principal components factor analysis: a plant-based diet, high in fruit and vegetables; a high-protein, high-fat diet, high in meats, eggs, fried foods, and high-fat condiments; a high-carbohydrate diet, high in convenience foods, pasta, and bread products; an ethnic diet, high in legumes, soy-based foods, rice, and dark-green leafy vegetables; and a salad and wine diet, high in lettuce, fish, wine, low-fat salad dressing, and coffee and tea. The plant-based pattern was associated with a reduction in breast cancer risk (RR: 0.85; 95% CI: 0.76, 0.95 for the highest compared with the lowest consumption quintile; P-trend = 0.003); risk reduction was greater for estrogen receptor-negative progesterone receptor-negative (ER-PR-) tumors (RR: 0.66; 95% CI: 0.48, 0.91; P-trend = 0.03). The salad and wine pattern was associated with an increased risk of estrogen receptor-positive progesterone receptor-positive tumors (RR: 1.29; 95% CI: 1.12, 1.49); this effect was only slightly attenuated after adjustment for alcohol consumption. The finding that greater consumption of a plant-based dietary pattern is associated with a reduced breast cancer risk, particularly for ER-PR- tumors, offers a potential avenue for prevention.
Liu, Xiaoxi; Kawamura, Yoshiya; Shimada, Takafumi; Otowa, Takeshi; Koishi, Shinko; Sugiyama, Toshiro; Nishida, Hisami; Hashimoto, Ohiko; Nakagami, Ryoichi; Tochigi, Mamoru; Umekage, Tadashi; Kano, Yukiko; Miyagawa, Taku; Kato, Nobumasa; Tokunaga, Katsushi; Sasaki, Tsukasa
2010-03-01
The oxytocin receptor (OXTR) gene, which is located on chromosome 3p25.3, has been implicated as a candidate gene for susceptibility of autism spectrum disorder (ASD). Positive associations between OXTR and ASD have been reported in earlier studies. However, the results were inconsistent and demand further studies. In this study, we investigated the associations between OXTR and ASD in a Japanese population by analyzing 11 single-nucleotide polymorphisms (SNPs) using both family-based association test (FBAT) and population-based case-control test. No significant signal was detected in the FBAT test. However, significant differences were observed in allelic frequencies of four SNPs, including rs2254298 between patients and controls. The risk allele of rs2254298 was 'A', which was consistent with the previous study in Chinese, and not with the observations in Caucasian. The difference in the risk allele of this SNP in previous studies might be attributable to an ethnic difference in the linkage disequilibrium structure between the Asians and Caucasians. In addition, haplotype analysis exhibits a significant association between a five-SNP haplotype and ASD, including rs22542898. In conclusion, our study might support that OXTR has a significant role in conferring the risk of ASD in the Japanese population.
Ferreira, Efrem d'Avila; Alexandre, Márcia A; Salinas, Jorge L; de Siqueira, André M; Benzecry, Silvana G; de Lacerda, Marcus V G; Monteiro, Wuelton M
2015-09-17
Multiple studies in various parts of the world have analysed the association of nutritional status on malaria using anthropometric measures, but results differ due to the heterogeneity of the study population, species of the parasite, and other factors involved in the host and parasite relationship. The aim of this study was to perform a systematic review on the inter-relationship of nutritional status based on anthropometry and malarial infection. Two independent reviewers accessed the MEDLINE and LILACS databases using the same search terms related to malaria and anthropometry. Prospective studies associating anthropometry and malaria (incidence or severity) were selected. References from the included studies and reviews were used to increase the review sensitivity. Data were extracted using a standardized form and the quality of the prospective studies was assessed. Selected articles were grouped based on exposures and outcomes. The search identified a total of 1688 studies: 1629 from MEDLINE and 59 from LILACS. A total of 23 met the inclusion criteria. Five additional studies were detected by reading the references of the 23 included studies and reviews, totaling 28 studies included. The mean sample size was 662.1 people, ranging from 57 to 5620. The mean follow-up was 365.8 days, ranging from 14 days to 1 year and 9 months, and nine studies did not report the follow-up period. Prospective studies assessing the relationship between malaria and malnutrition were mostly carried out in Africa. Of the 20 studies with malarial outcomes, fifteen had high and five had average quality, with an average score of 80.5 %. Most anthropometric parameters had no association with malaria incidence (47/52; 90.4 %) or parasite density (20/25; 80 %). However, the impact of malnutrition was noted in malaria mortality and severity (7/17; 41.2 %). Regarding the effects of malaria on malnutrition, malaria was associated with very few anthropometric parameters (8/39; 20.6 %). This systematic review found that most of the evidence associating malaria and malnutrition comes from P. falciparum endemic areas, with a significant heterogeneity in studies' design. Apparently malnutrition has not a great impact on malaria morbidity, but could have a negative impact on malaria mortality and severity. Most studies show no association between malaria and subsequent malnutrition in P. falciparum areas. In Plasmodium vivax endemic areas, malaria was associated with malnutrition in children. A discussion among experts in the field is needed to standardize future studies to increase external validity and accuracy.
Davis, Daniel; Gregson, John; Willeit, Peter; Stephan, Blossom; Al-Shahi Salman, Rustam; Brayne, Carol
2012-01-01
Background Observational data have reported associations between patent foramen ovale (PFO), cryptogenic stroke and migraine. However, randomized trials of PFO closure do not demonstrate a clear benefit either because the underlying association is weaker than previously suggested or because the trials were underpowered. In order to resolve the apparent discrepancy between observational data and randomized trials, we investigated associations between (1) migraine and ischemic stroke, (2) PFO and ischemic stroke, and (3) PFO and migraine. Methods Eligibility criteria were consistent; including all studies with specifically defined exposures and outcomes unrestricted by language. We focused on studies at lowest risk of bias by stratifying analyses based on methodological design and quantified associations using fixed-effects meta-analysis models. Results We included 37 studies of 7,686 identified. Compared to reports in the literature as a whole, studies with population-based comparators showed weaker associations between migraine with aura and cryptogenic ischemic stroke in younger women (OR 1.4; 95% CI 0.9–2.0; 1 study), PFO and ischemic stroke (HR 1.6; 95 CI 1.0–2.5; 2 studies; OR 1.3; 95% CI 0.9–1.9; 3 studies), or PFO and migraine (OR 1.0; 95% CI 0.6–1.6; 1 study). It was not possible to look for interactions or effect modifiers. These results are limited by sources of bias within individual studies. Conclusions The overall pairwise associations between PFO, cryptogenic ischemic stroke and migraine do not strongly suggest a causal role for PFO. Ongoing randomized trials of PFO closure may need larger numbers of participants to detect an overall beneficial effect. PMID:23075508
Davis, Daniel; Gregson, John; Willeit, Peter; Stephan, Blossom; Al-Shahi Salman, Rustam; Brayne, Carol
2013-01-01
Observational data have reported associations between patent foramen ovale (PFO), cryptogenic stroke and migraine. However, randomized trials of PFO closure do not demonstrate a clear benefit either because the underlying association is weaker than previously suggested or because the trials were underpowered. In order to resolve the apparent discrepancy between observational data and randomized trials, we investigated associations between (1) migraine and ischemic stroke, (2) PFO and ischemic stroke, and (3) PFO and migraine. Eligibility criteria were consistent; including all studies with specifically defined exposures and outcomes unrestricted by language. We focused on studies at lowest risk of bias by stratifying analyses based on methodological design and quantified associations using fixed-effects meta-analysis models. We included 37 studies of 7,686 identified. Compared to reports in the literature as a whole, studies with population-based comparators showed weaker associations between migraine with aura and cryptogenic ischemic stroke in younger women (OR 1.4; 95% CI 0.9-2.0; 1 study), PFO and ischemic stroke (HR 1.6; 95 CI 1.0-2.5; 2 studies; OR 1.3; 95% CI 0.9-1.9; 3 studies), or PFO and migraine (OR 1.0; 95% CI 0.6-1.6; 1 study). It was not possible to look for interactions or effect modifiers. These results are limited by sources of bias within individual studies. The overall pairwise associations between PFO, cryptogenic ischemic stroke and migraine do not strongly suggest a causal role for PFO. Ongoing randomized trials of PFO closure may need larger numbers of participants to detect an overall beneficial effect. Copyright © 2012 S. Karger AG, Basel.
Association between Recruitment Methods and Attrition in Internet-Based Studies
Bajardi, Paolo; Paolotti, Daniela; Vespignani, Alessandro; Eames, Ken; Funk, Sebastian; Edmunds, W. John; Turbelin, Clement; Debin, Marion; Colizza, Vittoria; Smallenburg, Ronald; Koppeschaar, Carl; Franco, Ana O.; Faustino, Vitor; Carnahan, AnnaSara; Rehn, Moa; Merletti, Franco; Douwes, Jeroen; Firestone, Ridvan; Richiardi, Lorenzo
2014-01-01
Internet-based systems for epidemiological studies have advantages over traditional approaches as they can potentially recruit and monitor a wider range of individuals in a relatively inexpensive fashion. We studied the association between communication strategies used for recruitment (offline, online, face-to-face) and follow-up participation in nine Internet-based cohorts: the Influenzanet network of platforms for influenza surveillance which includes seven cohorts in seven different European countries, the Italian birth cohort Ninfea and the New Zealand birth cohort ELF. Follow-up participation varied from 43% to 89% depending on the cohort. Although there were heterogeneities among studies, participants who became aware of the study through an online communication campaign compared with those through traditional offline media seemed to have a lower follow-up participation in 8 out of 9 cohorts. There were no clear differences in participation between participants enrolled face-to-face and those enrolled through other offline strategies. An Internet-based campaign for Internet-based epidemiological studies seems to be less effective than an offline one in enrolling volunteers who keep participating in follow-up questionnaires. This suggests that even for Internet-based epidemiological studies an offline enrollment campaign would be helpful in order to achieve a higher participation proportion and limit the cohort attrition. PMID:25490045
Value conditioning modulates visual working memory processes.
Thomas, Paul M J; FitzGibbon, Lily; Raymond, Jane E
2016-01-01
Learning allows the value of motivationally salient events to become associated with stimuli that predict those events. Here, we asked whether value associations could facilitate visual working memory (WM), and whether such effects would be valence dependent. Our experiment was specifically designed to isolate value-based effects on WM from value-based effects on selective attention that might be expected to bias encoding. In a simple associative learning task, participants learned to associate the color of tinted faces with gaining or losing money or neither. Tinted faces then served as memoranda in a face identity WM task for which previously learned color associations were irrelevant and no monetary outcomes were forthcoming. Memory was best for faces with gain-associated tints, poorest for faces with loss-associated tints, and average for faces with no-outcome-associated tints. Value associated with 1 item in the WM array did not modulate memory for other items in the array. Eye movements when studying faces did not depend on the valence of previously learned color associations, arguing against value-based biases being due to differential encoding. This valence-sensitive value-conditioning effect on WM appears to result from modulation of WM maintenance processes. (c) 2015 APA, all rights reserved).
Kleppang, Annette Løvheim; Thurston, Miranda; Hartz, Ingeborg; Hagquist, Curt
2017-06-01
The aim of this work was to examine psychological distress among Norwegian adolescents in relation to changes over time and the associations with leisure time physical activity and screen-based sedentary behaviour. This cross-sectional study was based on data retrieved from the Norwegian Youth Health Surveys in 2001 and 2009 in Hedmark County. Adolescents aged 15-16 years old completed a questionnaire regarding physical activity, sedentary behaviour, psychological distress and other health and lifestyle variables. The self-report Hopkins Symptom Checklist-10 was used to assess psychological distress. Multinomial logistic regression was used to analyse the associations between psychological distress, physical activity and sedentary behaviour. Self-reported psychological distress increased significantly from 2001 to 2009 (from 19.4 to 28.2%), with the proportion of girls reporting psychological distress being twice as large as the proportion of boys. The proportion of adolescents who were physically active for ⩾11 hours per week increased significantly over the same period (from 6.0 to 10.4%). Sedentary behaviour ⩾6 hours per school day increased significantly among both sexes between 2001 and 2009. Physical activity (⩾11 hours) and sedentary behaviour (⩾6 hours) were both significantly associated with psychological distress. The association between physical activity, sedentary behaviour and psychological distress was weak; only high amounts of physical activity and high amounts of screen-based sedentary behaviour were associated with psychological distress. Longitudinal studies are needed to provide further insights into these associations and to understand the extent to which these variables might be causally related.
Islami, Farhad; Pourshams, Akram; Vedanthan, Rajesh; Poustchi, Hossein; Kamangar, Farin; Golozar, Asieh; Etemadi, Arash; Khademi, Hooman; Freedman, Neal D; Merat, Shahin; Garg, Vaani; Fuster, Valentin; Wakefield, Jon; Dawsey, Sanford M; Pharoah, Paul; Brennan, Paul; Abnet, Christian C; Malekzadeh, Reza; Boffetta, Paolo
2013-02-01
Water-pipe and smokeless tobacco use have been associated with several adverse health outcomes. However, little information is available on the association between water-pipe use and heart disease (HD). Therefore, we investigated the association of smoking water-pipe and chewing nass (a mixture of tobacco, lime and ash) with prevalent HD. Cross-sectional study. Baseline data (collected in 2004-2008) from a prospective population-based study in Golestan Province, Iran. 50 045 residents of Golestan (40-75 years old; 42.4% men). ORs and 95% CIs from multivariate logistic regression models for the association of water-pipe and nass use with HD prevalence. A total of 3051 (6.1%) participants reported a history of HD, and 525 (1.1%) and 3726 (7.5%) reported ever water-pipe or nass use, respectively. Heavy water-pipe smoking was significantly associated with HD prevalence (highest level of cumulative use vs never use, OR=3.75; 95% CI 1.52 to 9.22; p for trend=0.04). This association persisted when using different cut-off points, when restricting HD to those taking nitrate compound medications, and among never cigarette smokers. There was no significant association between nass use and HD prevalence (highest category of use vs never use, OR=0.91; 95% CI 0.69 to 1.20). Our study suggests a significant association between HD and heavy water-pipe smoking. Although the existing evidence suggesting similar biological consequences of water-pipe and cigarette smoking make this association plausible, results of our study were based on a modest number of water-pipe users and need to be replicated in further studies.
ERIC Educational Resources Information Center
Mannynsalo, L.; Putkonen, H.; Lindberg, N.; Kotilainen, I.
2009-01-01
Background: Contrasting views exist over the association of intellectual disability (ID) and criminal offending. This nationwide study attempts to shed further light to expand understanding to substantiate the relation between socio-demographic characteristics, psychiatric co-morbidity and criminal behaviour among the Finnish forensic population…
A Self-Report Measure of Cognitive Processes Associated with Creativity
ERIC Educational Resources Information Center
Miller, Angie L.
2014-01-01
This study sought to explore creative cognitive processes and the similarities and differences in how descriptions of these processes group together in various self-report subscales. Based on empirical evidence from numerous studies involving the cognitive components of creativity training, the Cognitive Processes Associated with Creativity (CPAC)…
Factors Associated with Abnormal Eating Attitudes among Greek Adolescents
ERIC Educational Resources Information Center
Bilali, Aggeliki; Galanis, Petros; Velonakis, Emmanuel; Katostaras, Theofanis
2010-01-01
Objective: To estimate the prevalence of abnormal eating attitudes among Greek adolescents and identify possible risk factors associated with these attitudes. Design: Cross-sectional, school-based study. Setting: Six randomly selected schools in Patras, southern Greece. Participants: The study population consisted of 540 Greek students aged 13-18…
Beliefs Held by Associate Degree Nursing Students about Role Models.
ERIC Educational Resources Information Center
Bellinger, Kathleen; And Others
1985-01-01
Reports on a study of the professional socialization of associate degree nursing (ADN) students. Reviews previous research on the process of nursing socialization. Presents study findings based on responses from 1,877 nursing students in 20 ADN programs, focusing on students' characteristics and ideal and actual role models. (DMM)
NASA Astrophysics Data System (ADS)
Aljuboori, Ahmed S.; Coenen, Frans; Nsaif, Mohammed; Parsons, David J.
2018-05-01
Case-Based Reasoning (CBR) plays a major role in expert system research. However, a critical problem can be met when a CBR system retrieves incorrect cases. Class Association Rules (CARs) have been utilized to offer a potential solution in a previous work. The aim of this paper was to perform further validation of Case-Based Reasoning using a Classification based on Association Rules (CBRAR) to enhance the performance of Similarity Based Retrieval (SBR). The CBRAR strategy uses a classed frequent pattern tree algorithm (FP-CAR) in order to disambiguate wrongly retrieved cases in CBR. The research reported in this paper makes contributions to both fields of CBR and Association Rules Mining (ARM) in that full target cases can be extracted from the FP-CAR algorithm without invoking P-trees and union operations. The dataset used in this paper provided more efficient results when the SBR retrieves unrelated answers. The accuracy of the proposed CBRAR system outperforms the results obtained by existing CBR tools such as Jcolibri and FreeCBR.
Eriksen, Bjørn Odvar; Løchen, Maja-Lisa; Arntzen, Kjell Arne; Bertelsen, Geir; Winther Eilertsen, Britt-Ann; von Hanno, Therese; Herder, Marit; Jenssen, Trond Geir; Mathisen, Ulla Dorte; Melsom, Toralf; Njølstad, Inger; Solbu, Marit D; Mathiesen, Ellisiv B
2015-01-01
Estimated glomerular filtration rate (eGFR) is used extensively in epidemiological research. Validations of eGFR have demonstrated acceptable performance, but the dependence of creatinine and cystatin C on non-GFR factors could confound associations with disease. Few studies have investigated this issue in direct comparison with measured GFR (mGFR). We compared the associations between eGFR and mGFR and retinal vasculopathy, a marker of systemic microvasculopathy. Iohexol clearance and retinal photography were examined in the Renal Iohexol Clearance Survey in Tromsø 6, which consists of a representative sample of middle-aged persons from the general population. A total of 1,553 persons without self-reported kidney disease, cardiovascular disease or diabetes were investigated. Three eGFR equations based on creatinine and/or cystatin C from the Chronic Kidney Disease Epidemiology Collaboration were studied. Differences between eGFR and mGFR were analyzed with seemingly unrelated regression methods. mGFR in the lowest quartile was associated with an increased multivariable-adjusted odds ratio of retinopathy (OR 1.86, 95% CI 1.16-2.97), but not with retinal artery or vein diameters. eGFR based on cystatin C (eGFRcys) was consistently biased relative to mGFR in its associations with retinal vessel diameters across different models. eGFR based on creatinine (eGFRcrea) and eGFR based on both creatinine and cystatin C were also biased in several of these models (p < 0.05). For retinopathy, the differences between the 3 eGFR and mGFR measurements were not statistically significant. Low mGFR is associated with retinopathy in the general population. eGFR based on creatinine and/or cystatin C are not valid substitutes for mGFR in studies of the relationship between the retina and kidney function in healthy persons. © 2015 S. Karger AG, Basel.
Dumitrescu, Logan; Carty, Cara L.; Taylor, Kira; Schumacher, Fredrick R.; Hindorff, Lucia A.; Ambite, José L.; Anderson, Garnet; Best, Lyle G.; Brown-Gentry, Kristin; Bůžková, Petra; Carlson, Christopher S.; Cochran, Barbara; Cole, Shelley A.; Devereux, Richard B.; Duggan, Dave; Eaton, Charles B.; Fornage, Myriam; Franceschini, Nora; Haessler, Jeff; Howard, Barbara V.; Johnson, Karen C.; Laston, Sandra; Kolonel, Laurence N.; Lee, Elisa T.; MacCluer, Jean W.; Manolio, Teri A.; Pendergrass, Sarah A.; Quibrera, Miguel; Shohet, Ralph V.; Wilkens, Lynne R.; Haiman, Christopher A.; Le Marchand, Loïc; Buyske, Steven; Kooperberg, Charles; North, Kari E.; Crawford, Dana C.
2011-01-01
For the past five years, genome-wide association studies (GWAS) have identified hundreds of common variants associated with human diseases and traits, including high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglyceride (TG) levels. Approximately 95 loci associated with lipid levels have been identified primarily among populations of European ancestry. The Population Architecture using Genomics and Epidemiology (PAGE) study was established in 2008 to characterize GWAS–identified variants in diverse population-based studies. We genotyped 49 GWAS–identified SNPs associated with one or more lipid traits in at least two PAGE studies and across six racial/ethnic groups. We performed a meta-analysis testing for SNP associations with fasting HDL-C, LDL-C, and ln(TG) levels in self-identified European American (∼20,000), African American (∼9,000), American Indian (∼6,000), Mexican American/Hispanic (∼2,500), Japanese/East Asian (∼690), and Pacific Islander/Native Hawaiian (∼175) adults, regardless of lipid-lowering medication use. We replicated 55 of 60 (92%) SNP associations tested in European Americans at p<0.05. Despite sufficient power, we were unable to replicate ABCA1 rs4149268 and rs1883025, CETP rs1864163, and TTC39B rs471364 previously associated with HDL-C and MAFB rs6102059 previously associated with LDL-C. Based on significance (p<0.05) and consistent direction of effect, a majority of replicated genotype-phentoype associations for HDL-C, LDL-C, and ln(TG) in European Americans generalized to African Americans (48%, 61%, and 57%), American Indians (45%, 64%, and 77%), and Mexican Americans/Hispanics (57%, 56%, and 86%). Overall, 16 associations generalized across all three populations. For the associations that did not generalize, differences in effect sizes, allele frequencies, and linkage disequilibrium offer clues to the next generation of association studies for these traits. PMID:21738485
Zhu, Ce; Li, Fei; Wong, May Chun Mei; Feng, Xi-Ping; Lu, Hai-Xia; Xu, Wei
2015-01-01
Numerous studies have investigated the associations between herpesviruses and chronic periodontitis; however, the results remain controversial. To derive a more precise estimation, a meta-analysis on all available studies was performed to identify the association between herpesviruses and chronic periodontitis. A computerized literature search was conducted in December 2014 to identify eligible case-control studies from the PUBMED and EMBASE databases according to inclusion and exclusion criteria. Data were extracted and pooled odds ratios (OR) with 95% confidence intervals (CI) were used to assess the association between herpesviruses and risk of chronic periodontitis. A fixed or random effects model was determined based on a heterogeneity test. Sensitivity analysis was conducted to investigate stability and reliability. Publication bias was investigated using the Begg rank correlation test and Egger's funnel plot. Ten eligible studies were included to investigate the association between Epstein-Barr virus (EBV) and chronic periodontitis. The results showed that EBV has a significant association with chronic periodontitis compared with periodontally healthy group (OR = 5.74, 95% CI = 2.53-13.00, P<0.001). The association between human cytomegalovirus (HCMV) and chronic periodontitis was analyzed in 10 studies. The pooled result showed that HCMV also has a significant association with chronic periodontitis (OR = 3.59, 95% CI = 1.41-9.16, P = 0.007). Similar results were found in the sensitivity analyses. No significant publication bias was observed. Two eligible studies were included to investigate the association between herpes simplex virus (HSV) and chronic periodontitis risk. The association between HSV and chronic periodontitis was inconclusive (OR = 2.81 95% CI = 0.95-8.27, P = 0.06). Only one included study investigated the association between human herpesvirus 7 (HHV-7) and chronic periodontitis risk (OR = 1.00, 95% CI = 0.21-4.86). The findings of this meta-analysis suggest that two members of the herpesvirus family, EBV and HCMV, are significantly associated with chronic periodontitis. There is insufficient evidence to support associations between HSV, HHV-7 and chronic periodontitis.
Wong, May. Chun. Mei; Feng, Xi-Ping; Lu, Hai-Xia; Xu, Wei
2015-01-01
Objective Numerous studies have investigated the associations between herpesviruses and chronic periodontitis; however, the results remain controversial. To derive a more precise estimation, a meta-analysis on all available studies was performed to identify the association between herpesviruses and chronic periodontitis. Methods A computerized literature search was conducted in December 2014 to identify eligible case-control studies from the PUBMED and EMBASE databases according to inclusion and exclusion criteria. Data were extracted and pooled odds ratios (OR) with 95% confidence intervals (CI) were used to assess the association between herpesviruses and risk of chronic periodontitis. A fixed or random effects model was determined based on a heterogeneity test. Sensitivity analysis was conducted to investigate stability and reliability. Publication bias was investigated using the Begg rank correlation test and Egger's funnel plot. Results Ten eligible studies were included to investigate the association between Epstein–Barr virus (EBV) and chronic periodontitis. The results showed that EBV has a significant association with chronic periodontitis compared with periodontally healthy group (OR = 5.74, 95% CI = 2.53–13.00, P<0.001). The association between human cytomegalovirus (HCMV) and chronic periodontitis was analyzed in 10 studies. The pooled result showed that HCMV also has a significant association with chronic periodontitis (OR = 3.59, 95% CI = 1.41–9.16, P = 0.007). Similar results were found in the sensitivity analyses. No significant publication bias was observed. Two eligible studies were included to investigate the association between herpes simplex virus (HSV) and chronic periodontitis risk. The association between HSV and chronic periodontitis was inconclusive (OR = 2.81 95% CI = 0.95–8.27, P = 0.06). Only one included study investigated the association between human herpesvirus 7 (HHV-7) and chronic periodontitis risk (OR = 1.00, 95% CI = 0.21–4.86). Conclusion The findings of this meta-analysis suggest that two members of the herpesvirus family, EBV and HCMV, are significantly associated with chronic periodontitis. There is insufficient evidence to support associations between HSV, HHV-7 and chronic periodontitis. PMID:26666412
Ilkhanoff, Leonard; Arking, Dan E; Lemaitre, Rozenn N; Alonso, Alvaro; Chen, Lin Y; Durda, Peter; Hesselson, Stephanie E; Kerr, Kathleen F; Magnani, Jared W; Marcus, Gregory M; Schnabel, Renate B; Smith, J Gustav; Soliman, Elsayed Z; Reiner, Alexander P; Sotoodehnia, Nona
2014-11-01
We examined the association of rs7626962 (S1103Y) or rs7629265, a variant in high linkage disequilibrium with S1103Y (r(2) = 0.87 - 1), with sudden cardiac death (SCD) and atrial fibrillation (AF) among African Americans. The SCN5A missense variant S1103Y has been associated with SCD among African Americans in small case-control studies, but larger population-based studies are needed to validate these findings. The association of this variant with AF has not been fully explored. Using genotyping data on over 7,000 African Americans from 5 cohorts (Atherosclerosis Risk in Communities [ARIC], Cleveland Family Study [CFS], Jackson Heart Study [JHS], Multi-Ethnic Study of Atherosclerosis [MESA], Cardiovascular Health Study [CHS]), we examined the association of rs7629265 with electrocardiographic PR, QRS, and QT intervals, and with incident AF and SCD. We examined association of S1103Y (rs7626962) with SCD using a population-based case-control study of SCD Cardiac Arrest Blood Study (CABS). Meta-analyses across 5 cohorts demonstrated that rs7629265 was significantly associated with PR duration (β = -4.1 milliseconds; P = 2.2×10(-6) ), but not significantly associated with QRS or QT intervals. In meta-analyses of prospectively followed ARIC and CHS participants (n = 3,656), rs7629265 was associated with increased AF risk (n = 299 AF cases; HR = 1.74, P = 1.9 × 10(-4) ). By contrast, rs7629265 was not significantly associated with SCD risk in ARIC (n = 83 SCD cases; P = 0.30) or CHS (n = 54 SCD cases; P = 0.47). Similarly, S1103Y was not significantly associated with SCD risk in CABS (n = 225 SCD cases; P = 0.29). The common SCN5A variant, rs7629265, is associated with increased AF risk and shorter PR interval among African Americans. In contrast to prior reports, we found no evidence of association of rs7629265 or rs7626962 (S1103Y) with SCD risk in the general population. © 2014 Wiley Periodicals, Inc.
Zhang, Xiaoshuai; Xue, Fuzhong; Liu, Hong; Zhu, Dianwen; Peng, Bin; Wiemels, Joseph L; Yang, Xiaowei
2014-12-10
Genome-wide Association Studies (GWAS) are typically designed to identify phenotype-associated single nucleotide polymorphisms (SNPs) individually using univariate analysis methods. Though providing valuable insights into genetic risks of common diseases, the genetic variants identified by GWAS generally account for only a small proportion of the total heritability for complex diseases. To solve this "missing heritability" problem, we implemented a strategy called integrative Bayesian Variable Selection (iBVS), which is based on a hierarchical model that incorporates an informative prior by considering the gene interrelationship as a network. It was applied here to both simulated and real data sets. Simulation studies indicated that the iBVS method was advantageous in its performance with highest AUC in both variable selection and outcome prediction, when compared to Stepwise and LASSO based strategies. In an analysis of a leprosy case-control study, iBVS selected 94 SNPs as predictors, while LASSO selected 100 SNPs. The Stepwise regression yielded a more parsimonious model with only 3 SNPs. The prediction results demonstrated that the iBVS method had comparable performance with that of LASSO, but better than Stepwise strategies. The proposed iBVS strategy is a novel and valid method for Genome-wide Association Studies, with the additional advantage in that it produces more interpretable posterior probabilities for each variable unlike LASSO and other penalized regression methods.
Prevalence of depressive disorders in Rasht, Iran: A community based study.
Modabernia, Mohamad Jafar; Tehrani, Hossein Shodjai; Fallahi, Mahnaz; Shirazi, Maryam; Modabbernia, Amir Hossein
2008-07-04
Depression is a well known health problem worldwide. Prevalence of depressive disorders varies in different societies. to determine the prevalence of depressive disorders and some associated factors in Rasht City (Northern part of Iran). 4020 subjects were selected among 394925 residents of Rasht aged between 18-70 during 2003 - 2004. In the first phase, subjects were screened by Beck's Depression Inventory. In the second phase, those who scored more than 15 were assessed through semi-structured psychiatric interview (DSMIV-TR). Socio-demographic characteristics including age, gender, marital status, educational level, and socio-economic class were recorded as well. 9.5% of samples (63% female and 37% male) were diagnosed by depressive disorders. The prevalence of minor depressive disorder, dysthymia and major depressive disorder was 5%, 2/5%, and 1% respectively. Socio-economic class was significantly associated with both depressive symptoms based on BDI score (p < 0.001) and depressive disorders based on clinical interview (p < 0.001). Comparing to other studies, this study revealed that prevalence of dysthymic and minor depressive disorder were more than major depressive disorder, and low socio-economic class was the most significant risk factor associated with depression. Regarding our study limitations, researchers and policy makers should not consider our findings as conclusive results. Findings of this study could be applied by researchers using analytical methodology to assess relationship between depressive disorders and associated factors.
WISARD: workbench for integrated superfast association studies for related datasets.
Lee, Sungyoung; Choi, Sungkyoung; Qiao, Dandi; Cho, Michael; Silverman, Edwin K; Park, Taesung; Won, Sungho
2018-04-20
A Mendelian transmission produces phenotypic and genetic relatedness between family members, giving family-based analytical methods an important role in genetic epidemiological studies-from heritability estimations to genetic association analyses. With the advance in genotyping technologies, whole-genome sequence data can be utilized for genetic epidemiological studies, and family-based samples may become more useful for detecting de novo mutations. However, genetic analyses employing family-based samples usually suffer from the complexity of the computational/statistical algorithms, and certain types of family designs, such as incorporating data from extended families, have rarely been used. We present a Workbench for Integrated Superfast Association studies for Related Data (WISARD) programmed in C/C++. WISARD enables the fast and a comprehensive analysis of SNP-chip and next-generation sequencing data on extended families, with applications from designing genetic studies to summarizing analysis results. In addition, WISARD can automatically be run in a fully multithreaded manner, and the integration of R software for visualization makes it more accessible to non-experts. Comparison with existing toolsets showed that WISARD is computationally suitable for integrated analysis of related subjects, and demonstrated that WISARD outperforms existing toolsets. WISARD has also been successfully utilized to analyze the large-scale massive sequencing dataset of chronic obstructive pulmonary disease data (COPD), and we identified multiple genes associated with COPD, which demonstrates its practical value.
Golpour-Hamedani, Sahar; Mohammadifard, Noushin; Khosravi, Alireza; Feizi, Awat; Safavi, Sayyed Morteza
2017-01-01
Few studies have investigated the effects of dietary approaches to stop hypertension (DASH) diet on obesity in children. The present study was conducted to examine adherence to the DASH diet in relation to obesity in children and adolescents, Isfahan, Iran. A cross-sectional study was carried out among 456 children aged 11-18 years who were selected by random cluster sampling method. Dietary intakes were assessed using a validated Food Frequency Questionnaire (FFQ). The DASH score was constructed based on food items emphasized or minimized in the DASH diet. Anthropometric measurements were conducted based on standard protocols. General and abdominal obesity were defined based on body mass index ≥ 95th percentiles and waist: height ratio of more than 0.5, respectively. Higher adherence to DASH diet was inversely associated with general obesity (odds ratioT1 vs. T3 3.34, 95% confidence interval 1.28-8.75); however, after controlling for confounding factors, this association disappeared. Furthermore, higher adherence to DASH diet was negatively associated with central obesity in children, but the relation was not statistically significant. We concluded that there was an inverse nonsignificant association between adherence to DASH diet and general obesity indices after adjustment for potential confounders. Further, well-designed randomized clinical trial studies are suggested to find out the effect of DASH diet on obesity obviously.
Zhang, Mingming; Mu, Hongbo; Shang, Zhenwei; Kang, Kai; Lv, Hongchao; Duan, Lian; Li, Jin; Chen, Xinren; Teng, Yanbo; Jiang, Yongshuai; Zhang, Ruijie
2017-01-06
Parkinson's disease (PD) is the second most common neurodegenerative disease. It is generally believed that it is influenced by both genetic and environmental factors, but the precise pathogenesis of PD is unknown to date. In this study, we performed a pathway analysis based on genome-wide association study (GWAS) to detect risk pathways of PD in three GWAS datasets. We first mapped all SNP markers to autosomal genes in each GWAS dataset. Then, we evaluated gene risk values using the minimum P-value of the tagSNPs. We took a pathway as a unit to identify the risk pathways based on the cumulative risks of the genes in the pathway. Finally, we combine the analysis results of the three datasets to detect the high risk pathways associated with PD. We found there were five same pathways in the three datasets. Besides, we also found there were five pathways which were shared in two datasets. Most of these pathways are associated with nervoussystem. Five pathways had been reported to be PD-related pathways in the previous literature. Our findings also implied that there was a close association between immune response and PD. Continued investigation of these pathways will further help us explain the pathogenesis of PD. Copyright © 2016. Published by Elsevier Ltd.
Saneei, Parvane; Willett, Walter; Esmaillzadeh, Ahmad
2015-01-01
Background: These findings from several observational studies, investigated the association between red meat consumption and gliomas, were inconsistent. We conducted a systematic review and meta-analysis of observational studies to summarize available date on the relation between meat intake and risk of glioma. Materials and Methods: A systematic literature search of relevant reports published until May 2014 of the PubMed/Medline, ISI Web of Knowledge, Excerpta Medica database, Ovid database, Google Scholar, and Scopus databases was conducted. From 723 articles yielded in the preliminary literature search, data from eighteen publications (14 case-control, three cohort, and one nested case-control study) on unprocessed red meat, processed meat, and/or total red meat consumption in relation to glioma in adults were included in the analysis. Quality assessment of studies was performed. Random effects model was used to conduct the meta-analysis. Results: We found a positive significant association between unprocessed red meat intake and risk of glioma (relative risk [RR] = 1.30; 95% confidence interval [CI]: 1.08-1.58) after excluding three studies with uncertain type of brain cancer. This analysis included only one cohort study which revealed no relation between unprocessed red meat intake and glioma (RR = 1.75; 95% CI: 0.35-8.77). Consumption of processed meats was not related to increased risk of glioma in population-based case-control studies (RR = 1.26; 95% CI: 1.05-1.51) and reduced risk in hospital-based case-controls (RR = 0.79; 95% CI: 0.65-0.97). No significant association was seen between processed red meat intake and risk of glioma in cohort studies (RR: 1.08; 95% CI: 0.84-1.37). Total red meat consumption was not associated with risk of adult glioma in case-control or cohort studies. Conclusion: In this meta-analysis of 18 observational studies, we found a modest positive association between unprocessed red meat intake and risk of gliomas based almost entirely on case-control studies. Processed red meat was overall not associated with risk of gliomas in case-control or cohort studies. PMID:26600837
Røssvoll, Elin Halbach; Ueland, Øydis; Hagtvedt, Therese; Jacobsen, Eivind; Lavik, Randi; Langsrud, Solveig
2012-09-01
Traditionally, consumer food safety survey responses have been classified as either "right" or "wrong" and food handling practices that are associated with high risk of infection have been treated in the same way as practices with lower risks. In this study, a risk-based method for consumer food safety surveys has been developed, and HACCP (hazard analysis and critical control point) methodology was used for selecting relevant questions. We conducted a nationally representative Web-based survey (n = 2,008), and to fit the self-reported answers we adjusted a risk-based grading system originally developed for observational studies. The results of the survey were analyzed both with the traditional "right" and "wrong" classification and with the risk-based grading system. The results using the two methods were very different. Only 5 of the 10 most frequent food handling violations were among the 10 practices associated with the highest risk. These 10 practices dealt with different aspects of heat treatment (lacking or insufficient), whereas the majority of the most frequent violations involved storing food at room temperature for too long. Use of the risk-based grading system for survey responses gave a more realistic picture of risks associated with domestic food handling practices. The method highlighted important violations and minor errors, which are performed by most people and are not associated with significant risk. Surveys built on a HACCP-based approach with risk-based grading will contribute to a better understanding of domestic food handling practices and will be of great value for targeted information and educational activities.
Loccisano, Anne E.; Morken, Nils-Halvdan; Yoon, Miyoung; Wu, Huali; McDougall, Robin; Maisonet, Mildred; Marcus, Michele; Kishi, Reiko; Miyashita, Chihiro; Chen, Mei-Huei; Hsieh, Wu-Shiun; Andersen, Melvin E.; Clewell, Harvey J.; Longnecker, Matthew P.
2015-01-01
Background Prenatal exposure to perfluoroalkyl substances (PFAS) has been associated with lower birth weight in epidemiologic studies. This association could be attributable to glomerular filtration rate (GFR), which is related to PFAS concentration and birth weight. Objectives We used a physiologically based pharmacokinetic (PBPK) model of pregnancy to assess how much of the PFAS–birth weight association observed in epidemiologic studies might be attributable to GFR. Methods We modified a PBPK model to reflect the association of GFR with birth weight (estimated from three studies of GFR and birth weight) and used it to simulate PFAS concentrations in maternal and cord plasma. The model was run 250,000 times, with variation in parameters, to simulate a population. Simulated data were analyzed to evaluate the association between PFAS levels and birth weight due to GFR. We compared simulated estimates with those from a meta-analysis of epidemiologic data. Results The reduction in birth weight for each 1-ng/mL increase in simulated cord plasma for perfluorooctane sulfonate (PFOS) was 2.72 g (95% CI: –3.40, –2.04), and for perfluorooctanoic acid (PFOA) was 7.13 g (95% CI: –8.46, –5.80); results based on maternal plasma at term were similar. Results were sensitive to variations in PFAS level distributions and the strength of the GFR–birth weight association. In comparison, our meta-analysis of epidemiologic studies suggested that each 1-ng/mL increase in prenatal PFOS and PFOA levels was associated with 5.00 g (95% CI: –21.66, –7.78) and 14.72 g (95% CI: –8.92, –1.09) reductions in birth weight, respectively. Conclusion Results of our simulations suggest that a substantial proportion of the association between prenatal PFAS and birth weight may be attributable to confounding by GFR and that confounding by GFR may be more important in studies with sample collection later in pregnancy. Citation Verner MA, Loccisano AE, Morken NH, Yoon M, Wu H, McDougall R, Maisonet M, Marcus M, Kishi R, Miyashita C, Chen MH, Hsieh WS, Andersen ME, Clewell HJ III, Longnecker MP. 2015. Associations of perfluoroalkyl substances (PFAS) with lower birth weight: an evaluation of potential confounding by glomerular filtration rate using a physiologically based pharmacokinetic model (PBPK). Environ Health Perspect 123:1317–1324; http://dx.doi.org/10.1289/ehp.1408837 PMID:26008903
Xie, Liang; Deng, Ying; Yuan, Yumei; Tan, Xiong; Liu, Lijun; Li, Nana; Deng, Changfei; Liu, Hanmin; Dai, Li
2018-04-01
The genetic factors causing cleft lip with or without cleft palate (CL ± P) are still unclear. The SNPs in FOXE1 gene were associated with CL ± P. However, the results have been inconsistent. We explored the associations of four SNPs in FOXE1 gene and CL ± P by a family based study. 128 children with CL ± P and their parents were recruited. rs3758249 and rs1867277 were genotyped by high-resolution melting curve (HRM) method, whereas rs1443434 and rs907577 were genotyped by Sequenom MassARRAY® method. The software PLINK, FBAT and FAMHAP were used for analyzing data. rs1867277 was associated with CL ± P (P m = 0.0395). The patients were divided into two subgroups, individuals with cleft lip only and persons with cleft lip and palate. There were no associations in subgroup analyses. We confirmed the association of FOXE1 gene and CL ± P by a family based study. For the first time, rs1867277 was significantly associated with CL ± P.
Halder, Amal K.; Streatfield, Peter K.; Sazzad, Hossain M.S.; Nurul Huda, Tarique M.; Hossain, M. Jahangir; Luby, Stephen P.
2012-01-01
Objectives. We estimated the population-based incidence of maternal and neonatal mortality associated with hepatitis E virus (HEV) in Bangladesh. Methods. We analyzed verbal autopsy data from 4 population-based studies in Bangladesh to calculate the maternal and neonatal mortality ratios associated with jaundice during pregnancy. We then reviewed the published literature to estimate the proportion of maternal deaths associated with liver disease during pregnancy that were the result of HEV in hospitals. Results. We found that 19% to 25% of all maternal deaths and 7% to 13% of all neonatal deaths in Bangladesh were associated with jaundice in pregnant women. In the published literature, 58% of deaths in pregnant women with acute liver disease in hospitals were associated with HEV. Conclusions. Jaundice is frequently associated with maternal and neonatal deaths in Bangladesh, and the published literature suggests that HEV may cause many of these deaths. HEV is preventable, and studies to estimate the burden of HEV in endemic countries are urgently needed. PMID:23078501
Perceptions of neighborhood park quality: associations with physical activity and body mass index.
Bai, Hua; Wilhelm Stanis, Sonja A; Kaczynski, Andrew T; Besenyi, Gina M
2013-02-01
Parks are important resources for physical activity (PA), yet few studies have examined how perceptions of park characteristics relate to PA and health. This study investigated associations between perceptions of neighborhood park quality and overall moderate-to-vigorous PA (MVPA), park-based PA, and body mass index (BMI). Data were collected via questionnaire from 893 households in Kansas City, Missouri. The newly developed neighborhood park quality scale demonstrated good test-retest and internal reliability. Residents' perceptions of neighborhood park quality were related to PA and health outcomes. Perceiving parks as a benefit was positively related to overall MVPA and park-based PA and negatively related to BMI. Perceptions of well-used parks were positively related to BMI, while perceived cleanliness was negatively related to park-based PA. Better measuring and understanding how perceptions of local parks are associated with PA and health can improve appreciation of how parks facilitate active living.
O'Connor, Seini; Jose, Paul E
2012-11-01
Extracurricular activities are important in many young people's lives and have been associated with positive academic, psychological, and social outcomes. However, most previous research has been limited to school-based activities in the North American context. This study expands existing literature by analyzing longitudinal data from more than 1,300 young Māori and European New Zealanders, using propensity score matching techniques to control for selection effects. Results suggest that youth participating in community-based activities experienced greater social support than nonparticipants. For Māori youth, participating in nonsports activities was associated with later benefits, while for New Zealand European youth, benefits were associated with sports activities. Participants of different ages reported different types of benefits. These findings highlight points of similarity and difference between New Zealand and North American youth and provide a better understanding of the positive impacts of community-based activities for young people.
PubMedMiner: Mining and Visualizing MeSH-based Associations in PubMed.
Zhang, Yucan; Sarkar, Indra Neil; Chen, Elizabeth S
2014-01-01
The exponential growth of biomedical literature provides the opportunity to develop approaches for facilitating the identification of possible relationships between biomedical concepts. Indexing by Medical Subject Headings (MeSH) represent high-quality summaries of much of this literature that can be used to support hypothesis generation and knowledge discovery tasks using techniques such as association rule mining. Based on a survey of literature mining tools, a tool implemented using Ruby and R - PubMedMiner - was developed in this study for mining and visualizing MeSH-based associations for a set of MEDLINE articles. To demonstrate PubMedMiner's functionality, a case study was conducted that focused on identifying and comparing comorbidities for asthma in children and adults. Relative to the tools surveyed, the initial results suggest that PubMedMiner provides complementary functionality for summarizing and comparing topics as well as identifying potentially new knowledge.
The contribution of mediator-based deficiencies to age differences in associative learning.
Dunlosky, John; Hertzog, Christopher; Powell-Moman, Amy
2005-03-01
Production, mediational, and utilization deficiencies, which describe how strategy use may contribute to developmental trends in episodic memory, have been intensively investigated. Using a mediator report-and-retrieval method, the authors present evidence concerning the degree to which 2 previously unexplored mediator-based deficits--retrieval and decoding deficiencies--account for age deficits in learning. During study, older and younger adults were instructed to use a strategy (imagery or sentence generation) to associate words within paired associates. They also reported each mediator and later attempted to retrieve each response and the mediator produced at study. Substantial deficits occurred in mediator recall, and small differences were observed in decoding mediators. Mediator recall also accounted for a substantial proportion of the age deficits in criterion recall independently of fluid or crystallized intelligence. Discussion focuses on mediator-based deficiencies and their implications for theories of age deficits in episodic memory. Copyright 2005 APA, all rights reserved.
Munretnam, Khamsigan; Alex, Livy; Ramzi, Nurul Hanis; Chahil, Jagdish Kaur; Kavitha, I S; Hashim, Nikman Adli Nor; Lye, Say Hean; Velapasamy, Sharmila; Ler, Lian Wee
2014-01-01
There is growing global interest to stratify men into different levels of risk to developing prostate cancer, thus it is important to identify common genetic variants that confer the risk. Although many studies have identified more than a dozen common genetic variants which are highly associated with prostate cancer, none have been done in Malaysian population. To determine the association of such variants in Malaysian men with prostate cancer, we evaluated a panel of 768 SNPs found previously associated with various cancers which also included the prostate specific SNPs in a population based case control study (51 case subjects with prostate cancer and 51 control subjects) in Malaysian men of Malay, Chinese and Indian ethnicity. We identified 21 SNPs significantly associated with prostate cancer. Among these, 12 SNPs were strongly associated with increased risk of prostate cancer while remaining nine SNPs were associated with reduced risk. However, data analysis based on ethnic stratification led to only five SNPs in Malays and 3 SNPs in Chinese which remained significant. This could be due to small sample size in each ethnic group. Significant non-genetic risk factors were also identified for their association with prostate cancer. Our study is the first to investigate the involvement of multiple variants towards susceptibility for PC in Malaysian men using genotyping approach. Identified SNPs and non-genetic risk factors have a significant association with prostate cancer.
Kessler, Jörg
2018-01-01
Objectives To determine risk factors for short and long umbilical cord, entanglement and knot. Explore their associated risks of adverse maternal and perinatal outcome, including risk of recurrence in a subsequent pregnancy. To provide population based gestational age and sex and parity specific reference ranges for cord length. Design Population based registry study. Setting Medical Birth Registry of Norway 1999–2013. Population All singleton births (gestational age>22weeks<45 weeks) (n = 856 300). Methods Descriptive statistics and odds ratios of risk factors for extreme cord length and adverse outcomes based on logistic regression adjusted for confounders. Main outcome measures Short or long cord (<10th or >90th percentile), cord knot and entanglement, adverse pregnancy outcomes including perinatal and intrauterine death. Results Increasing parity, maternal height and body mass index, and diabetes were associated with increased risk of a long cord. Large placental and birth weight, and fetal male sex were factors for a long cord, which again was associated with a doubled risk of intrauterine and perinatal death, and increased risk of adverse neonatal outcome. Anomalous cord insertion, female sex, and a small placenta were associated with a short cord, which was associated with increased risk of fetal malformations, placental complications, caesarean delivery, non-cephalic presentation, perinatal and intrauterine death. At term, cord knot was associated with a quadrupled risk of perinatal death. The combination of a cord knot and entanglement had a more than additive effect to the association to perinatal death. There was a more than doubled risk of recurrence of a long or short cord, knot and entanglement in a subsequent pregnancy of the same woman. Conclusion Cord length is influenced both by maternal and fetal factors, and there is increased risk of recurrence. Extreme cord length, entanglement and cord knot are associated with increased risk of adverse outcomes including perinatal death. We provide population based reference ranges for umbilical cord length. PMID:29584790
Ke, Yao-hua; Xiao, Wen-jin; He, Jin-wei; Zhang, Hao; Yu, Jin-bo; Hu, Wei-wei; Gu, Jie-mei; Gao, Gao; Yue, Hua; Wang, Chun; Hu, Yun-qiu; Li, Miao; Liu, Yu-juan; Fu, Wen-zhen; Zhang, Zhen-lin
2012-02-01
Genetic variation in ALOX12, which encoded human 12-lipoxygenase, was found to be associated with fat mass in young Chinese men. The objective of this study was to investigate the relationship between single nucleotide polymorphisms (SNPs) and haplotypes in the ALOX15 gene and obesity-related phenotypes in Chinese nuclear families with male offspring. We recruited 1,296 subjects from 427 nuclear families with male offspring and genotyped five SNPs (rs9894225, rs748694, rs2619112, rs2619118, and rs916055) in the ALOX15 gene locus. The total fat mass (TFM), trunk fat mass (tFM), leg fat mass (LFM) and arm fat mass (AFM) were measured using dual-energy X-ray absorptiometry (DXA). The percentage of fat mass (PFM) was the ratio of TFM and body weight. The association between SNPs and haplotypes of ALOX15 and obesity-related phenotypic variation was measured using quantitative transmission disequilibrium test (QTDT). Using QTDT to measure family-based genetic association, we found that rs916055 had a statistically significant association with PFM (P=0.038), whereas rs916055 had a marginal but statistically insignificant association with tFM (P=0.093). The multiple-parameter 1000 permutations test agreed with the family-based association results: both showed that rs916055 had a statistically significant association with PFM (P=0.033). rs916055 in ALOX15 gene was significantly associated with the percentage of fat mass in Chinese nuclear families with male offspring in the family-based association study using QTDT approach.
Alati, Rosa; Gunnell, David; Najman, Jake; Williams, Gail; Lawlor, Debbie
2009-06-01
This study explores associations of IQ at age 14 with adult symptoms of suicidal thoughts and attempts at age 21. Analysis was based on the Mater University Study of Pregnancy and its outcomes, an Australian prospective birth cohort study started in Brisbane Australia in 1981. We assessed associations with suicide thoughts, plans, and attempts. We used two measures of IQ: the Raven's Standard Progressive Matrices and the Wide Range Achievement Test. In multivariable analyses, there was an inverse association between Raven's IQ and suicide thoughts, plans, and attempts, but no strong evidence of an association between the WRAT3 and the three suicidal items. Specific aspects of intelligence may be associated with suicidal thoughts, plans, and attempts.
BACKGROUND: Advocates for environmental justice, local, state, and national public health officials, exposure scientists, need broad-based heath indices to identify vulnerable communities. Longitudinal studies show that perception of current health status predicts subsequent mort...
DOE Office of Scientific and Technical Information (OSTI.GOV)
Weaver, Virginia M., E-mail: vweaver@jhsph.edu; Johns Hopkins University School of Medicine, Baltimore, MD; Welch Center for Prevention, Epidemiology, and Clinical Research, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD
Positive associations between urine toxicant levels and measures of glomerular filtration rate (GFR) have been reported recently in a range of populations. The explanation for these associations, in a direction opposite that of traditional nephrotoxicity, is uncertain. Variation in associations by urine concentration adjustment approach has also been observed. Associations of urine cadmium, thallium and uranium in models of serum creatinine- and cystatin-C-based estimated GFR (eGFR) were examined using multiple linear regression in a cross-sectional study of adolescents residing near a lead smelter complex. Urine concentration adjustment approaches compared included urine creatinine, urine osmolality and no adjustment. Median age, bloodmore » lead and urine cadmium, thallium and uranium were 13.9 years, 4.0 μg/dL, 0.22, 0.27 and 0.04 g/g creatinine, respectively, in 512 adolescents. Urine cadmium and thallium were positively associated with serum creatinine-based eGFR only when urine creatinine was used to adjust for urine concentration (β coefficient=3.1 mL/min/1.73 m{sup 2}; 95% confidence interval=1.4, 4.8 per each doubling of urine cadmium). Weaker positive associations, also only with urine creatinine adjustment, were observed between these metals and serum cystatin-C-based eGFR and between urine uranium and serum creatinine-based eGFR. Additional research using non-creatinine-based methods of adjustment for urine concentration is necessary. - Highlights: • Positive associations between urine metals and creatinine-based eGFR are unexpected. • Optimal approach to urine concentration adjustment for urine biomarkers uncertain. • We compared urine concentration adjustment methods. • Positive associations observed only with urine creatinine adjustment. • Additional research using non-creatinine-based methods of adjustment needed.« less
ERIC Educational Resources Information Center
Kramer, Barry S.; Walker, Andrew E.; Brill, Jennifer M.
2007-01-01
This study explores the barriers associated with teachers implementing information and communication technology-assisted collaborative project-based learning (ICTCPrjBL) as a classroom teaching methodology with students. We used a Web-based Delphi method to engage experienced educators in anonymous consensus building consisting of three rounds of…
ERIC Educational Resources Information Center
Chan, Christian S.; Rhodes, Jean E.; Howard, Waylon J.; Lowe, Sarah R.; Schwartz, Sarah E. O.; Herrera, Carla
2013-01-01
This study explores the pathways through which school-based mentoring relationships are associated with improvements in elementary and high school students' socio-emotional, academic, and behavioral outcomes. Participants in the study (N = 526) were part of a national evaluation of the Big Brothers Big Sisters school-based mentoring programs, all…
Temporal validation for landsat-based volume estimation model
Renaldo J. Arroyo; Emily B. Schultz; Thomas G. Matney; David L. Evans; Zhaofei Fan
2015-01-01
Satellite imagery can potentially reduce the costs and time associated with ground-based forest inventories; however, for satellite imagery to provide reliable forest inventory data, it must produce consistent results from one time period to the next. The objective of this study was to temporally validate a Landsat-based volume estimation model in a four county study...
ERIC Educational Resources Information Center
Terzian, Aram L.; Obetz, Wayne S.
A study was conducted at the Community College of Philadelphia (CCP) to examine the course-taking patterns of 94 graduates of the associate in arts (AA) curriculum, 1,957 graduates of the association in general studies (AGS) curriculum, and 99 graduates of the associate in science (AS) curriculum. Using a computer-based approach to transcript…
Nagata, Chisato; Mizoue, Tetsuya; Tanaka, Keitaro; Tsuji, Ichiro; Tamakoshi, Akiko; Matsuo, Keitaro; Wakai, Kenji; Inoue, Manami; Tsugane, Shoichiro; Sasazuki, Shizuka
2014-03-01
We reviewed epidemiological studies of soy intake and breast cancer among Japanese women. This report is one among a series of articles by our research group, which is evaluating the existing evidence concerning the association between health-related lifestyles and cancer. Original data were obtained from MEDLINE searches using PubMed or from searches of the Ichushi database, complemented with manual searches. Evaluation of associations was based on the strength of evidence and the magnitude of association, together with biological plausibility. Five cohort studies and six case-control studies were identified. Among the cohort studies, two studies observed that total soy intake (in terms of total amounts of soy foods or soy isoflavones) was associated with a moderate (0.5 ≤ relative risk ≤ 0.67 with statistical significance) or strong (relative risk ≤ 0.5 with statistical significance) risk reduction of breast cancer in postmenopausal women. Among the case-control studies, two studies reported a weak (0.67 ≤ odds ratio ≤ 1.5 with statistical significance or 0.5 ≤ odds ratio ≤ 0.67 without statistical significance) inverse association between total soy intake and the risk of breast cancer. In the former, this association was observed in all women combined-premenopausal and postmenopausal women-but in the latter, the association was confined to postmenopausal women. The associations of intakes of individual soy foods with the risk of breast cancer were generally null. There is some evidence that supports the biological plausibility of a protective effect of isoflavones on breast cancer risk. We conclude that soy intake possibly decreases the risk of breast cancer among Japanese women.
Van Liefferinge, Dagmar; Sonuga-Barke, Edmund; Danckaerts, Marina; Fayn, Kirill; Van Broeck, Nady; van der Oord, Saskia
2018-05-30
Emotional lability (EL) is an important trans-diagnostic concept that is associated with significant functional impairment in childhood and adolescence. EL is typically measured with questionnaires, although little is known about the ecological validity of these ratings. In this paper, we undertook 2 studies addressing this issue by examining the relationship between rating-based measures of EL and directly measured emotional expressions and experiences. Furthermore, the associations between directly measured emotional expressions and experiences and attention-deficit/hyperactivity disorder (ADHD) symptomatology were also examined, given the clear association of EL with ADHD in former research. In Study 1, we examined the relationship between parental report of children's EL and ADHD, and children's emotional expressions in an experimental context (N = 67). In Study 2, we examined the relationship between parental ratings and real-time measures of emotional experiences in daily life in adolescents (N = 65). EL ratings were associated with different elements of real-time emotional experiences and expressions. Elements of emotional expressions but not emotional experiences were also associated with ADHD symptom reports. These studies provide evidence for the ecological validity of EL ratings. Furthermore, they add evidence for the associations between EL and ADHD. Copyright © 2018 John Wiley & Sons, Ltd.
Genome-wide analysis identifies 12 loci influencing human reproductive behavior.
Barban, Nicola; Jansen, Rick; de Vlaming, Ronald; Vaez, Ahmad; Mandemakers, Jornt J; Tropf, Felix C; Shen, Xia; Wilson, James F; Chasman, Daniel I; Nolte, Ilja M; Tragante, Vinicius; van der Laan, Sander W; Perry, John R B; Kong, Augustine; Ahluwalia, Tarunveer S; Albrecht, Eva; Yerges-Armstrong, Laura; Atzmon, Gil; Auro, Kirsi; Ayers, Kristin; Bakshi, Andrew; Ben-Avraham, Danny; Berger, Klaus; Bergman, Aviv; Bertram, Lars; Bielak, Lawrence F; Bjornsdottir, Gyda; Bonder, Marc Jan; Broer, Linda; Bui, Minh; Barbieri, Caterina; Cavadino, Alana; Chavarro, Jorge E; Turman, Constance; Concas, Maria Pina; Cordell, Heather J; Davies, Gail; Eibich, Peter; Eriksson, Nicholas; Esko, Tõnu; Eriksson, Joel; Falahi, Fahimeh; Felix, Janine F; Fontana, Mark Alan; Franke, Lude; Gandin, Ilaria; Gaskins, Audrey J; Gieger, Christian; Gunderson, Erica P; Guo, Xiuqing; Hayward, Caroline; He, Chunyan; Hofer, Edith; Huang, Hongyan; Joshi, Peter K; Kanoni, Stavroula; Karlsson, Robert; Kiechl, Stefan; Kifley, Annette; Kluttig, Alexander; Kraft, Peter; Lagou, Vasiliki; Lecoeur, Cecile; Lahti, Jari; Li-Gao, Ruifang; Lind, Penelope A; Liu, Tian; Makalic, Enes; Mamasoula, Crysovalanto; Matteson, Lindsay; Mbarek, Hamdi; McArdle, Patrick F; McMahon, George; Meddens, S Fleur W; Mihailov, Evelin; Miller, Mike; Missmer, Stacey A; Monnereau, Claire; van der Most, Peter J; Myhre, Ronny; Nalls, Mike A; Nutile, Teresa; Kalafati, Ioanna Panagiota; Porcu, Eleonora; Prokopenko, Inga; Rajan, Kumar B; Rich-Edwards, Janet; Rietveld, Cornelius A; Robino, Antonietta; Rose, Lynda M; Rueedi, Rico; Ryan, Kathleen A; Saba, Yasaman; Schmidt, Daniel; Smith, Jennifer A; Stolk, Lisette; Streeten, Elizabeth; Tönjes, Anke; Thorleifsson, Gudmar; Ulivi, Sheila; Wedenoja, Juho; Wellmann, Juergen; Willeit, Peter; Yao, Jie; Yengo, Loic; Zhao, Jing Hua; Zhao, Wei; Zhernakova, Daria V; Amin, Najaf; Andrews, Howard; Balkau, Beverley; Barzilai, Nir; Bergmann, Sven; Biino, Ginevra; Bisgaard, Hans; Bønnelykke, Klaus; Boomsma, Dorret I; Buring, Julie E; Campbell, Harry; Cappellani, Stefania; Ciullo, Marina; Cox, Simon R; Cucca, Francesco; Toniolo, Daniela; Davey-Smith, George; Deary, Ian J; Dedoussis, George; Deloukas, Panos; van Duijn, Cornelia M; de Geus, Eco J C; Eriksson, Johan G; Evans, Denis A; Faul, Jessica D; Sala, Cinzia Felicita; Froguel, Philippe; Gasparini, Paolo; Girotto, Giorgia; Grabe, Hans-Jörgen; Greiser, Karin Halina; Groenen, Patrick J F; de Haan, Hugoline G; Haerting, Johannes; Harris, Tamara B; Heath, Andrew C; Heikkilä, Kauko; Hofman, Albert; Homuth, Georg; Holliday, Elizabeth G; Hopper, John; Hyppönen, Elina; Jacobsson, Bo; Jaddoe, Vincent W V; Johannesson, Magnus; Jugessur, Astanand; Kähönen, Mika; Kajantie, Eero; Kardia, Sharon L R; Keavney, Bernard; Kolcic, Ivana; Koponen, Päivikki; Kovacs, Peter; Kronenberg, Florian; Kutalik, Zoltan; La Bianca, Martina; Lachance, Genevieve; Iacono, William G; Lai, Sandra; Lehtimäki, Terho; Liewald, David C; Lindgren, Cecilia M; Liu, Yongmei; Luben, Robert; Lucht, Michael; Luoto, Riitta; Magnus, Per; Magnusson, Patrik K E; Martin, Nicholas G; McGue, Matt; McQuillan, Ruth; Medland, Sarah E; Meisinger, Christa; Mellström, Dan; Metspalu, Andres; Traglia, Michela; Milani, Lili; Mitchell, Paul; Montgomery, Grant W; Mook-Kanamori, Dennis; de Mutsert, Renée; Nohr, Ellen A; Ohlsson, Claes; Olsen, Jørn; Ong, Ken K; Paternoster, Lavinia; Pattie, Alison; Penninx, Brenda W J H; Perola, Markus; Peyser, Patricia A; Pirastu, Mario; Polasek, Ozren; Power, Chris; Kaprio, Jaakko; Raffel, Leslie J; Räikkönen, Katri; Raitakari, Olli; Ridker, Paul M; Ring, Susan M; Roll, Kathryn; Rudan, Igor; Ruggiero, Daniela; Rujescu, Dan; Salomaa, Veikko; Schlessinger, David; Schmidt, Helena; Schmidt, Reinhold; Schupf, Nicole; Smit, Johannes; Sorice, Rossella; Spector, Tim D; Starr, John M; Stöckl, Doris; Strauch, Konstantin; Stumvoll, Michael; Swertz, Morris A; Thorsteinsdottir, Unnur; Thurik, A Roy; Timpson, Nicholas J; Tung, Joyce Y; Uitterlinden, André G; Vaccargiu, Simona; Viikari, Jorma; Vitart, Veronique; Völzke, Henry; Vollenweider, Peter; Vuckovic, Dragana; Waage, Johannes; Wagner, Gert G; Wang, Jie Jin; Wareham, Nicholas J; Weir, David R; Willemsen, Gonneke; Willeit, Johann; Wright, Alan F; Zondervan, Krina T; Stefansson, Kari; Krueger, Robert F; Lee, James J; Benjamin, Daniel J; Cesarini, David; Koellinger, Philipp D; den Hoed, Marcel; Snieder, Harold; Mills, Melinda C
2016-12-01
The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251,151 individuals for AFB and 343,072 individuals for NEB. We identified 12 independent loci that are significantly associated with AFB and/or NEB in a SNP-based genome-wide association study and 4 additional loci associated in a gene-based effort. These loci harbor genes that are likely to have a role, either directly or by affecting non-local gene expression, in human reproduction and infertility, thereby increasing understanding of these complex traits.
de Jong, Simone; Vidler, Lewis R; Mokrab, Younes; Collier, David A; Breen, Gerome
2016-08-01
Genome-wide association studies (GWAS) have identified thousands of novel genetic associations for complex genetic disorders, leading to the identification of potential pharmacological targets for novel drug development. In schizophrenia, 108 conservatively defined loci that meet genome-wide significance have been identified and hundreds of additional sub-threshold associations harbour information on the genetic aetiology of the disorder. In the present study, we used gene-set analysis based on the known binding targets of chemical compounds to identify the 'drug pathways' most strongly associated with schizophrenia-associated genes, with the aim of identifying potential drug repositioning opportunities and clues for novel treatment paradigms, especially in multi-target drug development. We compiled 9389 gene sets (2496 with unique gene content) and interrogated gene-based p-values from the PGC2-SCZ analysis. Although no single drug exceeded experiment wide significance (corrected p<0.05), highly ranked gene-sets reaching suggestive significance including the dopamine receptor antagonists metoclopramide and trifluoperazine and the tyrosine kinase inhibitor neratinib. This is a proof of principle analysis showing the potential utility of GWAS data of schizophrenia for the direct identification of candidate drugs and molecules that show polypharmacy. © The Author(s) 2016.
Joux, Julien; Boulanger, Marion; Jeannin, Severine; Chausson, Nicolas; Hennequin, Jean-Luc; Molinié, Vincent; Smadja, Didier; Touzé, Emmanuel; Olindo, Stephane
2016-10-01
Carotid bulb diaphragm (CBD) has been described in young carotid ischemic stroke (CIS) patients, especially in blacks. However, the prevalence of CBD in CIS patients is unknown, and whether CBD is a risk factor for CIS remains unclear. We assessed the association between CBD and incident CIS in a population-based study. We selected all young (<55 years) CIS patients from a 1-year population-based cohort study in the Afro-Caribbean population of Martinique in 2012. All patients had a comprehensive work-up including a computed tomographic angiography. We calculated CIS associated with ipsilateral CBD incidence with 95% confidence intervals using Poisson distribution. We then selected age- and sex-matched controls among young (<55 years) Afro-Caribbean stroke-free patients admitted for a road crash who routinely had computed tomographic angiography. Odds ratio (ORs) were calculated by conditional logistic regression adjusted for hypertension, dyslipidemia, diabetes and smoking. CIS associated with ipsilateral CBD incidence was 3.8 per 100 000 person-years (95% confidence interval, 1.4-6.1). Prevalence of ipsilateral CBD was 23% in all CIS and 37% in undetermined CIS patients. When restricted to undetermined CIS, CBD prevalence was 24 times higher than that in controls (adjusted OR, 24.1; 95% confidence interval, 1.8-325.6). CBD is associated with an increased risk of ipsilateral CIS in young Afro-Caribbean population. © 2016 American Heart Association, Inc.
Brain morphology of childhood aggressive behavior: A multi-informant study in school-age children.
Thijssen, Sandra; Ringoot, Ank P; Wildeboer, Andrea; Bakermans-Kranenburg, Marian J; El Marroun, Hanan; Hofman, Albert; Jaddoe, Vincent W V; Verhulst, Frank C; Tiemeier, Henning; van IJzendoorn, Marinus H; White, Tonya
2015-09-01
Few studies have focused on the neuroanatomy of aggressive behavior in children younger than 10 years. Here, we explored the neuroanatomical correlates of aggression in a population-based sample of 6- to 9-year-old children using a multiple-informant approach. Magnetic resonance (MR) scans were acquired from 566 children from the Generation R study who participated in the Berkeley Puppet Interview and whose parents had completed the Child Behavior Checklist. Linear regression analyses were used to examine associations between aggression and amygdala and hippocampal volume. We performed surface-based analyses to study the association between aggression and cortical thickness, surface area, and gyrification. Aggressive behavior was associated with smaller amygdala (p < .05) but not hippocampal volume. Aggression was associated with a thinner cortex in the left precentral cortex (p < .01) and in a cluster including the right inferior parietal, supramarginal, and postcentral cortex (p < .001). Gender moderated the association between aggression and cortical thickness in the right medial posterior cortex (p = .001) and the right prefrontal cortex (p < .001). Aggression was associated with decreased gyrification in a large cluster including the right precentral, postcentral, frontal, and parietal cortex (p = .01). Moreover, aggression was associated with decreased gyrification in the right occipital and parietal cortex (p = .02). We found novel evidence that childhood aggressive behavior is related to decreased amygdala volume, decreased sensorimotor cortical thickness, and decreased global right hemisphere gyrification. Aggression is related to cortical thickness in regions associated with the default mode network, with negative associations in boys and positive associations in girls.
DOE Office of Scientific and Technical Information (OSTI.GOV)
Song, Xuehang; Chen, Xingyuan; Ye, Ming
2015-07-01
This study develops a new framework of facies-based data assimilation for characterizing spatial distribution of hydrofacies and estimating their associated hydraulic properties. This framework couples ensemble data assimilation with transition probability-based geostatistical model via a parameterization based on a level set function. The nature of ensemble data assimilation makes the framework efficient and flexible to be integrated with various types of observation data. The transition probability-based geostatistical model keeps the updated hydrofacies distributions under geological constrains. The framework is illustrated by using a two-dimensional synthetic study that estimates hydrofacies spatial distribution and permeability in each hydrofacies from transient head data.more » Our results show that the proposed framework can characterize hydrofacies distribution and associated permeability with adequate accuracy even with limited direct measurements of hydrofacies. Our study provides a promising starting point for hydrofacies delineation in complex real problems.« less
Application of a faith-based integration tool to assess mental and physical health interventions.
Saunders, Donna M; Leak, Jean; Carver, Monique E; Smith, Selina A
2017-01-01
To build on current research involving faith-based interventions (FBIs) for addressing mental and physical health, this study a) reviewed the extent to which relevant publications integrate faith concepts with health and b) initiated analysis of the degree of FBI integration with intervention outcomes. Derived from a systematic search of articles published between 2007 and 2017, 36 studies were assessed with a Faith-Based Integration Assessment Tool (FIAT) to quantify faith-health integration. Basic statistical procedures were employed to determine the association of faith-based integration with intervention outcomes. The assessed studies possessed (on average) moderate, inconsistent integration because of poor use of faith measures, and moderate, inconsistent use of faith practices. Analysis procedures for determining the effect of FBI integration on intervention outcomes were inadequate for formulating practical conclusions. Regardless of integration, interventions were associated with beneficial outcomes. To determine the link between FBI integration and intervention outcomes, additional analyses are needed.
Xu, X.-H.; Xiong, D.-H.; Liu, X.-G.; Guo, Y.; Chen, Y.; Zhao, J.; Recker, R. R.; Deng, H.-W.
2010-01-01
Summary This study was conducted to test whether there exists an association between vitamin D-binding protein (DBP) gene and compression strength index (CSI) phenotype. Candidate gene association analyses were conducted in total sample, male subgroup, and female subgroup, respectively. Two single-nucleotide polymorphisms (SNPs) with significant association results were found in males, suggesting the importance of DBP gene polymorphisms on the variation in CSI especially in Caucasian males. Introduction CSI of the femoral neck (FN) is a newly developed phenotype integrating information about bone size, body size, and bone mineral density. It is considered to have the potential to improve the performance of risk assessment for hip fractures because it is based on a combination of phenotypic traits influencing hip fractures rather than a single trait. CSI is under moderate genetic determination (with a heritability of ~44% found in this study), but the relevant genetic study is still rather scarce. Methods Based on the known physiological role of DBP in bone biology and the relatively high heritability of CSI, we tested 12 SNPs of the DBP gene for association with CSI variation in 405 Caucasian nuclear families comprising 1,873 subjects from the Midwestern US. Association analyses were performed in the total sample, male and female subgroups, respectively. Results Significant associations with CSI were found with two SNPs (rs222029, P=0.0019; rs222020, P=0.0042) for the male subgroup. Haplotype-based association tests corroborated the single-SNP results. Conclusions Our findings suggest that the DBP gene might be one of the genetic factors influencing CSI phenotype in Caucasians, especially in males. PMID:19543766
Andreescu, Carmen; Teverovsky, Esther; Fu, Bo; Hughes, Tiffany F; Chang, Chung-Chou H; Ganguli, Mary
2014-03-01
To disentangle the complex associations of depression and anxiety with mild cognitive impairment (MCI) at the population level. We examined subgroups of anxiety symptoms and depression symptom profiles in relation to MCI, which we defined using both cognitive and functional approaches. We used an epidemiologic, cross-sectional study with an age-stratified, random, population-based sample of 1,982 individuals aged 65 years and over. Three definitions of MCI were used: 1) a purely cognitive classification into amnestic and nonamnestic MCI, 2) a combined cognitive-functional definition by International Working Group (IWG) criteria, and 3) a purely functional definition by the Clinical Dementia Rating (CDR) of 0.5. Three depression profiles were identified by factor analysis of the modified Center for Epidemiological Studies-Depression Scale: core mood, self-esteem/interpersonal, and apathy/neurovegetative profiles. Three anxiety groups, chronic mild worry, chronic severe anxiety, and recent-onset anxiety, were based on screening questions. Recent-onset anxiety was associated with MCI by nonamnestic and IWG criteria, chronic severe anxiety was associated with MCI by all definitions, and chronic mild worry was associated with none. Of the depression profiles, the core mood profile was associated with CDR-defined MCI, the apathy/neurovegetative profile was associated with MCI by amnestic, IWG, and CDR definitions, and the self-esteem/interpersonal profile was associated with none. In this population-based sample, subgroups with different anxiety and depression profiles had different relationships with cognitive and functional definitions of MCI. Anxiety, depression, and MCI are all multidimensional entities, interacting in complex ways that may shed light on underlying neural mechanisms. Copyright © 2014 American Association for Geriatric Psychiatry. Published by Elsevier Inc. All rights reserved.
Kische, Hanna; Ewert, Ralf; Fietze, Ingo; Gross, Stefan; Wallaschofski, Henri; Völzke, Henry; Dörr, Marcus; Nauck, Matthias; Obst, Anne; Stubbe, Beate; Penzel, Thomas; Haring, Robin
2016-11-01
Associations between sex hormones and sleep habits originate mainly from small and selected patient-based samples. We examined data from a population-based sample with various sleep characteristics and the major part of sex hormones measured by mass spectrometry. We used data from 204 men and 213 women of the cross-sectional Study of Health in Pomerania-TREND. Associations of total T (TT) and free T, androstenedione (ASD), estrone, estradiol (E2), dehydroepiandrosterone-sulphate, SHBG, and E2 to TT ratio with sleep measures (including total sleep time, sleep efficiency, wake after sleep onset, apnea-hypopnea index [AHI], Insomnia Severity Index, Epworth Sleepiness Scale, and Pittsburgh Sleep Quality Index) were assessed by sex-specific multivariable regression models. In men, age-adjusted associations of TT (odds ratio 0.62; 95% confidence interval (CI) 0.46-0.83), free T, and SHBG with AHI were rendered nonsignificant after multivariable adjustment. In multivariable analyses, ASD was associated with Epworth Sleepiness Scale (β-coefficient per SD increase in ASD: -0.71; 95% CI: -1.18 to -0.25). In women, multivariable analyses showed positive associations of dehydroepiandrosterone-sulphate with wake after sleep onset (β-coefficient: .16; 95% CI 0.03-0.28) and of E2 and E2 to TT ratio with Epworth Sleepiness Scale. Additionally, free T and SHBG were associated with AHI in multivariable models among premenopausal women. The present cross-sectional, population-based study observed sex-specific associations of androgens, E2, and SHBG with sleep apnea and daytime sleepiness. However, multivariable-adjusted analyses confirmed the impact of body composition and health-related lifestyle on the association between sex hormones and sleep.
Homuth, Georg; Wahl, Simone; Müller, Christian; Schurmann, Claudia; Mäder, Ulrike; Blankenberg, Stefan; Carstensen, Maren; Dörr, Marcus; Endlich, Karlhans; Englbrecht, Christian; Felix, Stephan B; Gieger, Christian; Grallert, Harald; Herder, Christian; Illig, Thomas; Kruppa, Jochen; Marzi, Carola S; Mayerle, Julia; Meitinger, Thomas; Metspalu, Andres; Nauck, Matthias; Peters, Annette; Rathmann, Wolfgang; Reinmaa, Eva; Rettig, Rainer; Roden, Michael; Schillert, Arne; Schramm, Katharina; Steil, Leif; Strauch, Konstantin; Teumer, Alexander; Völzke, Henry; Wallaschofski, Henri; Wild, Philipp S; Ziegler, Andreas; Völker, Uwe; Prokisch, Holger; Zeller, Tanja
2015-10-15
Obesity, defined as pathologically increased body mass index (BMI), is strongly related to an increased risk for numerous common cardiovascular and metabolic diseases. It is particularly associated with insulin resistance, hyperglycemia, and systemic oxidative stress and represents the most important risk factor for type 2 diabetes (T2D). However, the pathophysiological mechanisms underlying these associations are still not completely understood. Therefore, in order to identify potentially disease-relevant BMI-associated gene expression signatures, a transcriptome-wide association study (TWAS) on BMI was performed. Whole-blood mRNA levels determined by array-based transcriptional profiling were correlated with BMI in two large independent population-based cohort studies (KORA F4 and SHIP-TREND) comprising a total of 1977 individuals. Extensive alterations of the whole-blood transcriptome were associated with BMI: More than 3500 transcripts exhibited significant positive or negative BMI-correlation. Three major whole-blood gene expression signatures associated with increased BMI were identified. The three signatures suggested: i) a ratio shift from mature erythrocytes towards reticulocytes, ii) decreased expression of several genes essentially involved in the transmission and amplification of the insulin signal, and iii) reduced expression of several key genes involved in the defence against reactive oxygen species (ROS). Whereas the first signature confirms published results, the other two provide possible mechanistic explanations for well-known epidemiological findings under conditions of increased BMI, namely attenuated insulin signaling and increased oxidative stress. The putatively causative BMI-dependent down-regulation of the expression of numerous genes on the mRNA level represents a novel finding. BMI-associated negative transcriptional regulation of insulin signaling and oxidative stress management provide new insights into the pathogenesis of metabolic syndrome and T2D.
Sinha, Rashmi; Ward, Mary H; Graubard, Barry I; Inoue-Choi, Maki; Dawsey, Sanford M; Abnet, Christian C
2017-01-01
Objective To determine the association of different types of meat intake and meat associated compounds with overall and cause specific mortality. Design Population based cohort study. Setting Baseline dietary data of the NIH-AARP Diet and Health Study (prospective cohort of the general population from six states and two metropolitan areas in the US) and 16 year follow-up data until 31 December 2011. Participants 536 969 AARP members aged 50-71 at baseline. Exposures Intake of total meat, processed and unprocessed red meat (beef, lamb, and pork) and white meat (poultry and fish), heme iron, and nitrate/nitrite from processed meat based on dietary questionnaire. Adjusted Cox proportional hazards regression models were used with the lowest fifth of calorie adjusted intakes as reference categories. Main outcome measure Mortality from any cause during follow-up. Results An increased risk of all cause mortality (hazard ratio for highest versus lowest fifth 1.26, 95% confidence interval 1.23 to 1.29) and death due to nine different causes associated with red meat intake was observed. Both processed and unprocessed red meat intakes were associated with all cause and cause specific mortality. Heme iron and processed meat nitrate/nitrite were independently associated with increased risk of all cause and cause specific mortality. Mediation models estimated that the increased mortality associated with processed red meat was influenced by nitrate intake (37.0-72.0%) and to a lesser degree by heme iron (20.9-24.1%). When the total meat intake was constant, the highest fifth of white meat intake was associated with a 25% reduction in risk of all cause mortality compared with the lowest intake level. Almost all causes of death showed an inverse association with white meat intake. Conclusions The results show increased risks of all cause mortality and death due to nine different causes associated with both processed and unprocessed red meat, accounted for, in part, by heme iron and nitrate/nitrite from processed meat. They also show reduced risks associated with substituting white meat, particularly unprocessed white meat. PMID:28487287
ERIC Educational Resources Information Center
Schieve, Laura A.; Tian, Lin; Dowling, Nicole; Croen, Lisa; Hoover-Fong, Julie; Alexander, Aimee; Shapira, Stuart K.
2018-01-01
The ratio of the index (2nd) finger to ring (4th) finger lengths (2D:4D) is a proxy for fetal testosterone and estradiol. Studies suggesting 2D:4D is inversely associated with autism spectrum disorder (ASD) in males were limited by lack of confounder and subgroup assessments. Studies of females are sparse. We examined associations between ASD and…
Is higher sodium intake associated with elevated systemic inflammation? A population-based study.
Fogarty, Andrew W; Lewis, Sarah A; McKeever, Tricia M; Britton, John R
2009-06-01
Observational epidemiologic studies have suggested that a low-sodium diet is associated with reduced mortality. The objective was to test the hypothesis that a higher dietary intake of sodium is associated with increased systemic inflammation--a potential risk factor for both cardiovascular disease and cancer. The study design consisted of a randomly selected, cross-sectional, population-based study of 2633 individuals surveyed in 1991, of whom 1597 participants provided paired urinary and blood samples permitting measurement of 24-h urinary sodium excretion and serum C-reactive protein (CRP) concentrations. The mean (+/-SD) 24-h sodium intake for the population was 177 +/- 69 mmol. In the basic model adjusted for age, sex, and smoking, higher levels of 24-h sodium excretion were directly associated with serum CRP, with an increase in serum CRP of 1.20 mg/L per 100-mmol increment in sodium excretion (95% CI: 1.11, 1.30). However, this association was reduced after adjustment for body mass index, with an increase in serum CRP of 1.06 mg/L per 100-mmol increment in sodium excretion (95% CI: -1.02, 1.15). We observed a linear association between an objective measure of sodium intake and serum CRP that may be influenced by confounding by body mass index. The magnitude of these associations suggests that dietary sodium consumption is unlikely to be an important modifiable risk factor for increased systemic inflammation.
Larsen, Janne Tidselbak; Munk-Olsen, Trine; Bulik, Cynthia M; Thornton, Laura M; Koch, Susanne Vinkel; Mortensen, Preben Bo; Petersen, Liselotte
2017-12-01
Previous studies evaluating the association between early childhood adversities and eating disorders have yielded conflicting results. The aim of this study is to examine the association between a range of adversities and risk of anorexia nervosa (AN), bulimia nervosa (BN), and eating disorder not otherwise specified (EDNOS) in 495,244 women. In this nationwide, register-based cohort study, nine types of early childhood adversity (family disruption, residential instability, placement in out-of-home care, familial death, parental somatic illness, parental psychiatric illness, parental disability, severe parental criminality, and parental substance use disorder) were defined and exposure during the first 6 years of life was determined. Hazard ratios for eating disorders were calculated using Cox regression. Few adversities were significantly associated with AN, and for each, the presence of the adversity was associated with lower risk for AN. BN, and EDNOS were positively associated with several types of adversities. AN rates were unchanged or reduced by up to 54% by adversities, whereas rates of BN and EDNOS were unchanged or increased by adversities by up to 49 and 89%, respectively. Our findings indicate that childhood adversities appear to be associated with an increased risk of BN and in particular EDNOS, whereas they seem to be either unassociated or associated with a decreased risk of AN. © 2017 Wiley Periodicals, Inc.
Obesity is associated with increased risk of invasive penile cancer.
Barnes, Kerri T; McDowell, Bradley D; Button, Anna; Smith, Brian J; Lynch, Charles F; Gupta, Amit
2016-07-13
To validate the association between obesity and penile cancer at a population level, we conducted a matched case-control study linking the Iowa Department of Motor Vehicles Drivers' License Database (DLD) with cancer surveillance data collected by the State Health Registry of Iowa (SHRI). All men diagnosed with invasive penile squamous cell carcinoma from 1985 to 2010 were identified by SHRI. Two hundred sixty-six cancer cases and 816 cancer-free male controls, selected from the Iowa DLD, were matched within 5-year age and calendar year strata. Body mass index (BMI) was calculated using self-reported height and weight from the DLD. Conditional logistic regression was used to evaluate the association between BMI and the risk of developing invasive penile cancer. Obesity was significantly associated with an increased risk of developing penile cancer. For every five-unit increase in BMI the risk of invasive penile cancer increased by 53 % (OR 1.53, 95 % CI 1.29-1.81, p < 0.0001). We previously reported an association between obesity and higher risk of invasive penile cancer and advanced cancer stage at diagnosis in a hospital-based retrospective study. This population-based study confirms an association between obesity and invasive penile cancer.
Zalsman, Gil; Frisch, Amos; Baruch-Movshovits, Ruth; Sher, Leo; Michaelovsky, Elena; King, Robert A; Fischel, Tsvi; Hermesh, Haggai; Goldberg, Pablo; Gorlyn, Marianne; Misgav, Sagit; Apter, Alan; Tyano, Sam; Weizman, Abraham
2005-01-01
Suicidal behavior runs in families and is partially genetically determined. Since greater serotonin 5-HT(2A) receptor binding has been reported in postmortem brain and platelets of suicide victims, the 5-HT(2A) receptor gene polymorphism T102C became one of the candidate sites in the study of suicide and impulsive-aggressive traits. However, studies that examined the association of this polymorphism with suicidality have contradictory results. This study used a family-based method and one homogenous ethnic group to overcome ethnic stratification in order to test this association. Thirty families of inpatient adolescents from Jewish Ashkenazi origin, with a recent suicide attempt, were genotyped. All subjects were interviewed for clinical diagnosis, depressive and impulsive-aggressive traits and demographic data. Allele frequencies were assessed using the Haplotype Relative Risk method for trios. No difference was found in allelic distribution between transmitted and non-transmitted alleles. There was no significant association of genotype with any of the clinical traits These preliminary results suggest that the 5-HT(2A) T102C polymorphism is unlikely to be associated with suicidal behavior and related traits in adolescent suicide attempters.
Lange, V; Dörr, M; Schminke, U; Völzke, H; Nauck, M; Wallaschofski, H; Hannemann, A
2017-01-01
It is highly debated whether associations between osteoporosis and atherosclerosis are independent of cardiovascular risk factors. We aimed to explore the associations between quantitative ultrasound (QUS) parameters at the heel with the carotid artery intima-media thickness (IMT), the presence of carotid artery plaques, and the ankle-brachial index (ABI). The study population comprised 5680 men and women aged 20-93 years from two population-based cohort studies: Study of Health in Pomerania (SHIP) and SHIP-Trend. QUS measurements were performed at the heel. The extracranial carotid arteries were examined with B-mode ultrasonography. ABI was measured in a subgroup of 3853 participants. Analyses of variance and linear and logistic regression models were calculated and adjusted for major cardiovascular risk factors. Men but not women had significantly increased odds for carotid artery plaques with decreasing QUS parameters independent of diabetes mellitus, dyslipidemia, and hypertension. Beyond this, the QUS parameters were not significantly associated with IMT or ABI in fully adjusted models. Our data argue against an independent role of bone metabolism in atherosclerotic changes in women. Yet, in men, associations with advanced atherosclerosis, exist. Thus, men presenting with clinical signs of osteoporosis may be at increased risk for atherosclerotic disease.
Performance-Based Versus Patient-Reported Physical Function: What Are the Underlying Predictors?
Ölveczky, Daniele D.; Kiely, Dan K.; LaRose, Sharon I.; Jette, Alan M.
2011-01-01
Background Functional limitations have been operationally defined for studies of rehabilitation science through measures of physical performance and patient-reported function. Although conceived as representing similar concepts, differences between these 2 modes of measuring physical functioning have not been adequately characterized scientifically. Objective The purpose of this study was to compare the Short Physical Performance Battery (SPPB) with the function component of the Late-Life Function and Disability Instrument (LLFDI) with respect to their association with physiologic factors and other psychosocial and health factors potentially influencing rehabilitative care. Design This study was a cross-sectional analysis of baseline data from a sample of community-dwelling older adults (N=137) with mobility limitations enrolled in a randomized controlled trial of exercise. Methods A performance-based measure of function (the SPPB) and a self-report measure of function (the LLFDI) served as functional outcomes. Physiologic factors included measures of leg strength, leg velocity, and exercise tolerance test (ETT) duration, which served as a surrogate measure of aerobic capacity. Psychosocial and health factors included age, sex, height, body mass index, number of chronic conditions, depression, and falls efficacy. Results Separate multivariable regression models predicting SPPB and LLFDI scores described 33% and 42% of the variance in each outcome (R2), respectively. Leg velocity and ETT duration were positively associated with both performance-based and patient-reported functional measures. Leg strength and age were positively associated with SPPB scores, whereas number of chronic conditions, sex, and falls efficacy were associated with the LLFDI scores. Limitations This study included older adults with mobility limitations and may not generalize to other populations. Conclusions Performance-based and patient-reported measures of physical function appear to assess different aspects of an older person's functioning. The SPPB was associated with age and physiologic factors, whereas patient-reported function measured by the LLFDI was associated with these factors as well as with psychosocial and health factors. PMID:22003163
Stringer, S; Minică, C C; Verweij, K J H; Mbarek, H; Bernard, M; Derringer, J; van Eijk, K R; Isen, J D; Loukola, A; Maciejewski, D F; Mihailov, E; van der Most, P J; Sánchez-Mora, C; Roos, L; Sherva, R; Walters, R; Ware, J J; Abdellaoui, A; Bigdeli, T B; Branje, S J T; Brown, S A; Bruinenberg, M; Casas, M; Esko, T; Garcia-Martinez, I; Gordon, S D; Harris, J M; Hartman, C A; Henders, A K; Heath, A C; Hickie, I B; Hickman, M; Hopfer, C J; Hottenga, J J; Huizink, A C; Irons, D E; Kahn, R S; Korhonen, T; Kranzler, H R; Krauter, K; van Lier, P A C; Lubke, G H; Madden, P A F; Mägi, R; McGue, M K; Medland, S E; Meeus, W H J; Miller, M B; Montgomery, G W; Nivard, M G; Nolte, I M; Oldehinkel, A J; Pausova, Z; Qaiser, B; Quaye, L; Ramos-Quiroga, J A; Richarte, V; Rose, R J; Shin, J; Stallings, M C; Stiby, A I; Wall, T L; Wright, M J; Koot, H M; Paus, T; Hewitt, J K; Ribasés, M; Kaprio, J; Boks, M P; Snieder, H; Spector, T; Munafò, M R; Metspalu, A; Gelernter, J; Boomsma, D I; Iacono, W G; Martin, N G; Gillespie, N A; Derks, E M; Vink, J M
2016-01-01
Cannabis is the most widely produced and consumed illicit psychoactive substance worldwide. Occasional cannabis use can progress to frequent use, abuse and dependence with all known adverse physical, psychological and social consequences. Individual differences in cannabis initiation are heritable (40–48%). The International Cannabis Consortium was established with the aim to identify genetic risk variants of cannabis use. We conducted a meta-analysis of genome-wide association data of 13 cohorts (N=32 330) and four replication samples (N=5627). In addition, we performed a gene-based test of association, estimated single-nucleotide polymorphism (SNP)-based heritability and explored the genetic correlation between lifetime cannabis use and cigarette use using LD score regression. No individual SNPs reached genome-wide significance. Nonetheless, gene-based tests identified four genes significantly associated with lifetime cannabis use: NCAM1, CADM2, SCOC and KCNT2. Previous studies reported associations of NCAM1 with cigarette smoking and other substance use, and those of CADM2 with body mass index, processing speed and autism disorders, which are phenotypes previously reported to be associated with cannabis use. Furthermore, we showed that, combined across the genome, all common SNPs explained 13–20% (P<0.001) of the liability of lifetime cannabis use. Finally, there was a strong genetic correlation (rg=0.83; P=1.85 × 10−8) between lifetime cannabis use and lifetime cigarette smoking implying that the SNP effect sizes of the two traits are highly correlated. This is the largest meta-analysis of cannabis GWA studies to date, revealing important new insights into the genetic pathways of lifetime cannabis use. Future functional studies should explore the impact of the identified genes on the biological mechanisms of cannabis use. PMID:27023175
Performance-based versus patient-reported physical function: what are the underlying predictors?
Bean, Jonathan F; Olveczky, Daniele D; Kiely, Dan K; LaRose, Sharon I; Jette, Alan M
2011-12-01
Functional limitations have been operationally defined for studies of rehabilitation science through measures of physical performance and patient-reported function. Although conceived as representing similar concepts, differences between these 2 modes of measuring physical functioning have not been adequately characterized scientifically. The purpose of this study was to compare the Short Physical Performance Battery (SPPB) with the function component of the Late-Life Function and Disability Instrument (LLFDI) with respect to their association with physiologic factors and other psychosocial and health factors potentially influencing rehabilitative care. This study was a cross-sectional analysis of baseline data from a sample of community-dwelling older adults (N=137) with mobility limitations enrolled in a randomized controlled trial of exercise. A performance-based measure of function (the SPPB) and a self-report measure of function (the LLFDI) served as functional outcomes. Physiologic factors included measures of leg strength, leg velocity, and exercise tolerance test (ETT) duration, which served as a surrogate measure of aerobic capacity. Psychosocial and health factors included age, sex, height, body mass index, number of chronic conditions, depression, and falls efficacy. Separate multivariable regression models predicting SPPB and LLFDI scores described 33% and 42% of the variance in each outcome (R(2)), respectively. Leg velocity and ETT duration were positively associated with both performance-based and patient-reported functional measures. Leg strength and age were positively associated with SPPB scores, whereas number of chronic conditions, sex, and falls efficacy were associated with the LLFDI scores. This study included older adults with mobility limitations and may not generalize to other populations. Performance-based and patient-reported measures of physical function appear to assess different aspects of an older person's functioning. The SPPB was associated with age and physiologic factors, whereas patient-reported function measured by the LLFDI was associated with these factors as well as with psychosocial and health factors.
Aldhous, Marian C; Abu Bakar, Suhaili; Prescott, Natalie J; Palla, Raquel; Soo, Kimberley; Mansfield, John C; Mathew, Christopher G; Satsangi, Jack; Armour, John A L
2010-12-15
The copy number variation in beta-defensin genes on human chromosome 8 has been proposed to underlie susceptibility to inflammatory disorders, but presents considerable challenges for accurate typing on the scale required for adequately powered case-control studies. In this work, we have used accurate methods of copy number typing based on the paralogue ratio test (PRT) to assess beta-defensin copy number in more than 1500 UK DNA samples including more than 1000 cases of Crohn's disease. A subset of 625 samples was typed using both PRT-based methods and standard real-time PCR methods, from which direct comparisons highlight potentially serious shortcomings of a real-time PCR assay for typing this variant. Comparing our PRT-based results with two previous studies based only on real-time PCR, we find no evidence to support the reported association of Crohn's disease with either low or high beta-defensin copy number; furthermore, it is noteworthy that there are disagreements between different studies on the observed frequency distribution of copy number states among European controls. We suggest safeguards to be adopted in assessing and reporting the accuracy of copy number measurement, with particular emphasis on integer clustering of results, to avoid reporting of spurious associations in future case-control studies.
Aldhous, Marian C.; Abu Bakar, Suhaili; Prescott, Natalie J.; Palla, Raquel; Soo, Kimberley; Mansfield, John C.; Mathew, Christopher G.; Satsangi, Jack; Armour, John A.L.
2010-01-01
The copy number variation in beta-defensin genes on human chromosome 8 has been proposed to underlie susceptibility to inflammatory disorders, but presents considerable challenges for accurate typing on the scale required for adequately powered case–control studies. In this work, we have used accurate methods of copy number typing based on the paralogue ratio test (PRT) to assess beta-defensin copy number in more than 1500 UK DNA samples including more than 1000 cases of Crohn's disease. A subset of 625 samples was typed using both PRT-based methods and standard real-time PCR methods, from which direct comparisons highlight potentially serious shortcomings of a real-time PCR assay for typing this variant. Comparing our PRT-based results with two previous studies based only on real-time PCR, we find no evidence to support the reported association of Crohn's disease with either low or high beta-defensin copy number; furthermore, it is noteworthy that there are disagreements between different studies on the observed frequency distribution of copy number states among European controls. We suggest safeguards to be adopted in assessing and reporting the accuracy of copy number measurement, with particular emphasis on integer clustering of results, to avoid reporting of spurious associations in future case–control studies. PMID:20858604
Design of association studies with pooled or un-pooled next-generation sequencing data.
Kim, Su Yeon; Li, Yingrui; Guo, Yiran; Li, Ruiqiang; Holmkvist, Johan; Hansen, Torben; Pedersen, Oluf; Wang, Jun; Nielsen, Rasmus
2010-07-01
Most common hereditary diseases in humans are complex and multifactorial. Large-scale genome-wide association studies based on SNP genotyping have only identified a small fraction of the heritable variation of these diseases. One explanation may be that many rare variants (a minor allele frequency, MAF <5%), which are not included in the common genotyping platforms, may contribute substantially to the genetic variation of these diseases. Next-generation sequencing, which would allow the analysis of rare variants, is now becoming so cheap that it provides a viable alternative to SNP genotyping. In this paper, we present cost-effective protocols for using next-generation sequencing in association mapping studies based on pooled and un-pooled samples, and identify optimal designs with respect to total number of individuals, number of individuals per pool, and the sequencing coverage. We perform a small empirical study to evaluate the pooling variance in a realistic setting where pooling is combined with exon-capturing. To test for associations, we develop a likelihood ratio statistic that accounts for the high error rate of next-generation sequencing data. We also perform extensive simulations to determine the power and accuracy of this method. Overall, our findings suggest that with a fixed cost, sequencing many individuals at a more shallow depth with larger pool size achieves higher power than sequencing a small number of individuals in higher depth with smaller pool size, even in the presence of high error rates. Our results provide guidelines for researchers who are developing association mapping studies based on next-generation sequencing. (c) 2010 Wiley-Liss, Inc.
Atopic disorders and depression: findings from a large, population-based study.
Sanna, Livia; Stuart, Amanda L; Pasco, Julie A; Jacka, Felice N; Berk, Michael; Maes, Michael; O'Neil, Adrienne; Girardi, Paolo; Williams, Lana J
2014-02-01
Atopy, a common disorder characterized by a sensitivity to allergic reactions, affects a large proportion of the adult population and, as with depression, is associated with immune-inflammatory pathway changes. We sought to determine the role of atopic disorders in depression using data from a randomly-selected, population-based study of men and women. Cross-sectional data derived from the Geelong Osteoporosis Study for 942 males and 1085 females were analyzed. Depression [major depressive disorder (MDD), minor depression and dysthymia] was assessed using the Structured Clinical Interview for DSM-IV-TR Research Version, Non-patient edition. Data on medical conditions, including atopic disorders (asthma, hay fever and eczema), smoking status, alcohol consumption, socioeconomic status, and physical activity were documented by self-report. Logistic regression modeling was used to explore the associations between atopic disorders and depression. Atopic disorders were associated with a 59% increased likelihood of depression [gender and smoking-adjusted odds ratio (OR) 1:50, 95% CI 1.20-1.97]. Sub-group analyses revealed a similar pattern for those with MDD [gender and smoking-adjusted OR 1:54, 95% CI 1.22-1.94]. These associations were independent of socio-demographic characteristics, clinical and lifestyle factors. Reliance on self-report for allergic symptoms and cross-sectional nature of study. This population-based study provides evidence of the potential contribution of allergic disorders to depression. Further research is required to elucidate the direction of this association and to further explicate its underlying physiology, including immune-inflammation markers. © 2013 Published by Elsevier B.V.
Regression-Based Estimates of Observed Functional Status in Centenarians
Mitchell, Meghan B.; Miller, L. Stephen; Woodard, John L.; Davey, Adam; Martin, Peter; Burgess, Molly; Poon, Leonard W.
2011-01-01
Purpose of the Study: There is lack of consensus on the best method of functional assessment, and there is a paucity of studies on daily functioning in centenarians. We sought to compare associations between performance-based, self-report, and proxy report of functional status in centenarians. We expected the strongest relationships between proxy reports and observed performance of basic activities of daily living (BADLs) and instrumental activities of daily living (IADLs). We hypothesized that the discrepancy between self-report and observed daily functioning would be modified by cognitive status. We additionally sought to provide clinicians with estimates of centenarians’ observed daily functioning based on their mental status in combination with subjective measures of activities of daily living (ADLs). Design and Methods: Two hundred and forty-four centenarians from the Georgia Centenarian Study were included in this cross-sectional population-based study. Measures included the Direct Assessment of Functional Status, self-report and proxy report of functional status, and the Mini-Mental State Examination (MMSE). Results: Associations between observed and proxy reports were stronger than between observed and self-report across BADL and IADL measures. A significant MMSE by type of report interaction was found, indicating that lower MMSE performance is associated with a greater discrepancy between subjective and objective ADL measures. Implications: Results demonstrate associations between 3 methods of assessing functional status and suggest proxy reports are generally more accurate than self-report measures. Cognitive status accounted for some of the discrepancy between observed and self-reports, and we provide clinicians with tables to estimate centenarians’ performance on observed functional measures based on MMSE and subjective report of functional status. PMID:20974657
Systematic Review of Medical Informatics-Supported Medication Decision Making.
Melton, Brittany L
2017-01-01
This systematic review sought to assess the applications and implications of current medical informatics-based decision support systems related to medication prescribing and use. Studies published between January 2006 and July 2016 which were indexed in PubMed and written in English were reviewed, and 39 studies were ultimately included. Most of the studies looked at computerized provider order entry or clinical decision support systems. Most studies examined decision support systems as a means of reducing errors or risk, particularly associated with medication prescribing, whereas a few studies evaluated the impact medical informatics-based decision support systems have on workflow or operations efficiency. Most studies identified benefits associated with decision support systems, but some indicate there is room for improvement.
Watson, Annetta P; Armstrong, Anthony Q; White, George H; Thran, Brandolyn H
2018-02-01
U.S. military and allied contingency operations are increasingly occurring in locations with limited, unstable or compromised fresh water supplies. Non-potable graywater reuse is currently under assessment as a viable means to increase mission sustainability while significantly reducing the resources, logistics and attack vulnerabilities posed by transport of fresh water. Development of health-based (non-potable) exposure guidelines for the potential microbial components of graywater would provide a logical and consistent human-health basis for water reuse strategies. Such health-based strategies will support not only improved water security for contingency operations, but also sustainable military operations. Dose-response assessment of Vibrio cholerae based on adult human oral exposure data were coupled with operational water exposure scenario parameters common to numerous military activities, and then used to derive health risk-based water concentrations. The microbial risk assessment approach utilized oral human exposure V. cholerae dose studies in open literature. Selected studies focused on gastrointestinal illness associated with experimental infection by specific V. cholerae serogroups most often associated with epidemics and pandemics (O1 and O139). Nonlinear dose-response model analyses estimated V. cholerae effective doses (EDs) aligned with gastrointestinal illness severity categories characterized by diarrheal purge volume. The EDs and water exposure assumptions were used to derive Risk-Based Water Concentrations (CFU/100mL) for mission-critical illness severity levels over a range of water use activities common to military operations. Human dose-response studies, data and analyses indicate that ingestion exposures at the estimated ED 1 (50CFU) are unlikely to be associated with diarrheal illness while ingestion exposures at the lower limit (200CFU) of the estimated ED 10 are not expected to result in a level of diarrheal illness associated with degraded individual capability. The current analysis indicates that the estimated ED 20 (approximately 1000CFU) represents initiation of a more advanced stage of diarrheal illness associated with clinical care. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.
Consumption of soy-based infant formula is not associated with early onset of puberty.
Sinai, Tali; Ben-Avraham, Shely; Guelmann-Mizrahi, Inbal; Goldberg, Michael R; Naugolni, Larisa; Askapa, Galia; Katz, Yitzhak; Rachmiel, Marianna
2018-03-20
The use of soy products is common in young children with cow milk allergy (CMA). The aim was to examine prospectively the association between infantile consumption of soy-based formula, growth parameters and early pubertal signs, in comparison to cow milk-based formula. A nested case-control study was conducted, selected from a cohort of infants prospectively followed from birth until the age of 3 years for eating habits and the development of IgE-mediated CMA. Infants who consumed only soy-based formula were included in the soy group. The control group was randomly selected from those without IgE-CMA and not receiving soy formula. Study participants were reevaluated between ages 7.8 and 10.5 years by an interview, nutritional intake by 3 days diaries, and height, weight, and pubertal signs by physical examination. The soy-fed group included 29 participants (17 males), median age 8.92 years IQR (8.21, 9.42). The control group included 60 participants (27 males), median age 8.99 years IQR (8.35, 9.42). The groups had comparable height and BMI z scores (- 0.17 ± 1.08 versus - 0.16 ± 1.01, p = 0.96, and 0.67 ± 1.01 versus 0.53 ± 1.02, p = 0.56, for soy and control groups, respectively). Four (three males and one female) from the soy-group (13.8%) and eight females from the control-group (13.3%) had early pubertal signs (p = 0.95). No association was detected between puberty and infantile nutrition, after controlling for BMI and family data. No association with puberty or differences between groups were found in current daily consumption of soy, micronutrients, energy, carbohydrates, fat, and protein. This is the first prospective, physical examination-based study, demonstrating no association between infantile soy-based formula consumption and growth and puberty parameters.
2010 Perinatal GBS Prevention Guideline and Resource Utilization
Mukhopadhyay, Sagori; Dukhovny, Dmitry; Mao, Wenyang; Eichenwald, Eric C.
2014-01-01
OBJECTIVES: To quantify differences in early-onset sepsis (EOS) evaluations, evaluation-associated resource utilization, and EOS cases detected, when comparing time periods before and after the implementation of an EOS algorithm based on the Centers for Disease Control and Prevention (CDC) 2010 guidelines for prevention of perinatal Group B Streptococcus (GBS) disease. METHODS: Retrospective cohort study of infants born at ≥36 weeks’ gestation from 2009 to 2012 in a single tertiary care center. One 12-month period during which EOS evaluations were based on the CDC 2002 guideline was compared with a second 12-month period during which EOS evaluations were based on the CDC 2010 guideline. A cost minimization analysis was performed to determine the EOS evaluation-associated costs and resources during each time period. RESULTS: During the study periods, among well-appearing infants ≥36 weeks’ gestation, EOS evaluations for inadequate GBS prophylaxis decreased from 32/1000 to <1/1000 live births; EOS evaluation-associated costs decreased by $6994 per 1000 live births; and EOS evaluation-associated work hours decreased by 29 per 1000 live births. We found no increase in EOS evaluations for other indications, total NICU admissions, frequency of infants evaluated for symptoms before hospital discharge, or incidence of EOS during the 2 study periods. CONCLUSIONS: Implementation of an EOS algorithm based on CDC 2010 GBS guidelines resulted in a 25% decrease in EOS evaluations performed among well-appearing infants ≥36 weeks’ gestation, attributable to decreased evaluation of infants born in the setting of inadequate indicated GBS prophylaxis. This resulted in significant changes in EOS evaluation-associated resource expenditures. PMID:24446442
A family study of DRD3 rs6280, SLC1A2 rs3794087 and MAPT rs1052553 variants in essential tremor.
Jiménez-Jiménez, Félix Javier; García-Martín, Elena; Alonso-Navarro, Hortensia; Lorenzo-Betancor, Oswaldo; Ortega-Cubero, Sara; Pastor, Pau; Calleja, Marisol; Agúndez, José A G
2016-10-01
Despite many data suggesting a role of genetic factors in the risk for essential tremor (ET), the responsible genes have not been identified. We analyzed in ET Spanish families three single nucleotide polymorphisms (SNPs): DRD3 rs6280, SLC1A2 rs3794087, and MAPT rs1052553) previously related to an increased risk for developing the disease. We recruited 45 subjects with ET and 13 subjects without tremor belonging to 11 families who were evaluated because of familial tremor. Diagnosis of probable or definite ET was done according to TRIG criteria. Genotyping of the 3 SNPs was done using TaqMan-based qPCR assays. Data were compared with those of healthy controls of our laboratory. Family-based association testing for disease traits was performed as well. rs6280 and rs3794087 genotype and allelic frequencies did not differ significantly between subjects with ET and healthy controls. However, rs1052553AA genotype and the allele rs1052553A allele were significantly more frequent among ET patients. rs1052553A allele was non-significantly overrepresented in ET patients compared with controls when considering only the more severely affected member of each ET family. Family-based association test for disease traits showed lack of association between ET and the three SNPs studied. Our results showed a lack of association between rs6280 and rs3794087 with the risk for ET, though a marginal increased risk for ET was observed among the rs1052553A allele carriers, which was not confirmed with a family-based association study.
ERIC Educational Resources Information Center
Ward, Stephanie; Bélanger, Mathieu; Donovan, Denise; Caissie, Isabelle; Goguen, Julie; Vanasse, Allain
2015-01-01
Background: School environmental characteristics may be associated with youth's participation in different types of physical activities (PAs). This study aimed to identify which school policies and built environmental characteristics were associated with participation in organized, nonorganized, individual, and group-based activities. Methods:…
Nelson, Lyndsay A; Coston, Taylor D; Cherrington, Andrea L; Osborn, Chandra Y
2016-07-01
Technology-delivered interventions can improve the health behaviors and clinical outcomes of persons with diabetes, but only if end users engage with these interventions. To summarize the current knowledge on engagement with technology-based interventions, we conducted a review of recent mobile- and web-delivered intervention studies for adults with type 2 diabetes published from 2011 to 2015. Among 163 identified studies, 24 studies satisfied our inclusion criteria. There was substantial variation in how intervention engagement was reported across studies. Engagement rates were lower among interventions with a longer duration, and engagement decreased over time. In several studies, older age and lower health literacy were associated with less engagement, and more engagement was associated with intervention improvement in at least one outcome, including glycemic control. Future technology-based intervention studies should report on engagement, examine and report on associations between user characteristics and engagement, and aim to standardize how this is reported, particularly in longer trials.
Green tea consumption and breast cancer risk in Japanese women: a case-control study.
Iwasaki, Motoki; Mizusawa, Junki; Kasuga, Yoshio; Yokoyama, Shiro; Onuma, Hiroshi; Nishimura, Hideki; Kusama, Ritsu; Tsugane, Shoichiro
2014-01-01
Although many in vitro and animal studies have suggested a protective effect of green tea against breast cancer, only a few epidemiological studies have examined this association, and findings have been inconsistent. We examined the association between green tea consumption and breast cancer risk in consideration of the hormone receptor status of tumors and investigated whether the association was modified by dietary and genetic factors based on a hospital-based case-control study in Nagano, Japan. A total of 369 pairs completed a validated food frequency questionnaire and provided blood samples. Four single nucleotide polymorphisms (SNPs) were genotyped: CYP19A1 (rs10046), COMT (rs4680), MTHFR C677T (rs1801133), and MTHFR A1298C (rs1801131). We found no inverse association between green tea consumption and breast cancer risk. Compared with women who drank less than 120 ml of green tea per day, the adjusted odds ratio for women who drank more than 600 ml was 1.27 (95% confidence interval = 0.75-2.14; P for trend = 0.20). We also found no inverse association for either tumor subtype. No substantial effect modification was observed for menopausal status, 4 SNPs, or dietary intake of folate or isoflavone. This study provides additional evidence that green tea consumption is not associated with a decreased risk.
Islami, Farhad; Pourshams, Akram; Nasseri-Moghaddam, Siavosh; Khademi, Hooman; Poutschi, Hossein; Khoshnia, Masoud; Norouzi, Alireza; Amiriani, Taghi; Sohrabpour, Amir Ali; Aliasgari, Ali; Jafari, Elham; Semnani, Shahryar; Abnet, Christian C.; Pharaoh, Paul D.; Brennan, Paul; Kamangar, Farin; Dawsey, Sanford M.; Boffetta, Paolo; Malekzadeh, Reza
2014-01-01
BACKGROUND Only a few studies in Western countries have investigated the association between gastroesophageal reflux disease (GERD) and mortality at the general population level and they have shown mixed results. This study investigated the association between GERD symptoms and overall and cause-specific mortality in a large prospective population-based study in Golestan Province, Iran. METHODS Baseline data on frequency, onset time, and patient-perceived severity of GERD symptoms were available for 50001 participants in the Golestan Cohort Study (GCS). We identified 3107 deaths (including 1146 circulatory and 470 cancer-related) with an average follow-up of 6.4 years and calculated hazard ratios (HR) and 95% confidence intervals (CI) adjusted for multiple potential confounders. RESULTS Severe daily symptoms (defined as symptoms interfering with daily work or causing nighttime awakenings on a daily bases, reported by 4.3% of participants) were associated with cancer mortality (HR 1.48, 95% CI: 1.04-2.05). This increase was too small to noticeably affect overall mortality. Mortality was not associated with onset time or frequency of GERD and was not increased with mild to moderate symptoms. CONCLUSION We have observed an association with GERD and increased cancer mortality in a small group of individuals that had severe symptoms. Most patients with mild to moderate GERD can be re-assured that their symptoms are not associated with increased mortality. PMID:24872865
Hegvik, Tor-Arne; Instanes, Johanne Telnes; Haavik, Jan; Klungsøyr, Kari; Engeland, Anders
2018-05-01
The article "Associations between attention-deficit/hyperactivity disorder and autoimmune diseases are modified by sex: a population-based cross-sectional study", written by Tor-Arne Hegvik, Johanne Telnes Instanes, Jan Haavik, Kari Klungsøyr and Anders Engeland, was originally published electronically on the publisher's internet portal (currently SpringerLink) on October 5, 2017 without open access due to an error by the Springer editorial office in the processing of this article. The authors had originally opted for open access.
George, Ige A; Spec, Andrej; Powderly, William G; Santos, Carlos A Q
2018-02-01
In this population-based study in the contemporary era in the United States, the proportion of human immunodeficiency virus (HIV)-negative patients with cryptococcosis approaches that in HIV-infected patients. Cryptococcosis is associated with higher mortality rates in HIV-negative patients (including organ transplant recipients). © The Author(s) 2017. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail: journals.permissions@oup.com.
van Wijnen, Lisa G C; Boluijt, Petra R; Hoeven-Mulder, Henriette B; Bemelmans, Wanda J E; Wendel-Vos, G C Wanda
2010-05-01
This study describes the association between weight status and psychological health, suicidal thoughts and suicide attempts in adolescents from a population-based study of 21,730 adolescents who responded to a classroom-based internet questionnaire. It demonstrated clear associations between weight status in adolescents and poor psychological health, suicidal thoughts and suicide attempts, especially in obese individuals. Obese boys and girls were more likely to be classified as "psychologically unhealthy" than were normal weight subjects. They also reported more suicidal thoughts and suicide attempts.
Jacobs, Simone; Jäger, Susanne; Jansen, Eugene; Peter, Andreas; Stefan, Norbert; Boeing, Heiner; Schulze, Matthias B.; Kröger, Janine
2015-01-01
Background Biomarker fatty acids (FAs) reflecting de novo lipogenesis (DNL) are strongly linked to the risk of cardiometabolic diseases. Liver fat accumulation could mediate this relation. There is very limited data from human population-based studies that have examined this relation. Objective The aim of this study was to investigate the relation between specific FAs in the DNL pathway and liver fat accumulation in a large population-based study. Methods We conducted a cross-sectional analysis of a subsample (n = 1,562) of the EPIC-Potsdam study, which involves 27,548 middle-aged men and women. Baseline blood samples have been analyzed for proportions of 32 FAs in erythrocyte membranes (determined by gas chromatography) and biomarker concentrations in plasma. As indicators for DNL, the DNL-index (16:0 / 18:2n-6) and proportions of individual blood FAs in the DNL pathway were used. Plasma parameters associated with liver fat content (fetuin-A, ALT, and GGT) and the algorithm-based fatty liver index (FLI) were used to reflect liver fat accumulation. Results The DNL-index tended to be positively associated with the FLI and was positively associated with GGT activity in men (p for trend: 0.12 and 0.003). Proportions of 14:0 and 16:0 in erythrocytes were positively associated with fetuin-A, whereas 16:1n-7 were positively associated with the FLI and GGT activity (all p for trends in both sexes at least 0.004). Furthermore, the proportion of 16:1n-7 was positively related to fetuin-A in women and ALT activity in men (all p for trend at least 0.03). The proportion of 16:1n-9 showed positive associations with the FLI and GGT activity in men and fetuin-A in both sexes, whereas 18:1n-7 was positively associated with GGT activity in men (all p for trend at least 0.048). Conclusion Findings from this large epidemiological study suggest that liver fat accumulation could link erythrocyte FAs in the DNL pathway to the risk of cardiometabolic diseases. PMID:25984792
Computer-Based Assessments. Information Capsule. Volume 0918
ERIC Educational Resources Information Center
Blazer, Christie
2010-01-01
This Information Capsule reviews research conducted on computer-based assessments. Advantages and disadvantages associated with computer-based testing programs are summarized and research on the comparability of computer-based and paper-and-pencil assessments is reviewed. Overall, studies suggest that for most students, there are few if any…
Satija, Ambika; Bhupathiraju, Shilpa N; Rimm, Eric B; Spiegelman, Donna; Chiuve, Stephanie E; Borgi, Lea; Willett, Walter C; Manson, JoAnn E; Sun, Qi; Hu, Frank B
2016-06-01
Plant-based diets have been recommended to reduce the risk of type 2 diabetes (T2D). However, not all plant foods are necessarily beneficial. We examined the association of an overall plant-based diet and hypothesized healthful and unhealthful versions of a plant-based diet with T2D incidence in three prospective cohort studies in the US. We included 69,949 women from the Nurses' Health Study (1984-2012), 90,239 women from the Nurses' Health Study 2 (1991-2011), and 40,539 men from the Health Professionals Follow-Up Study (1986-2010), free of chronic diseases at baseline. Dietary data were collected every 2-4 y using a semi-quantitative food frequency questionnaire. Using these data, we created an overall plant-based diet index (PDI), where plant foods received positive scores, while animal foods (animal fats, dairy, eggs, fish/seafood, poultry/red meat, miscellaneous animal-based foods) received reverse scores. We also created a healthful plant-based diet index (hPDI), where healthy plant foods (whole grains, fruits, vegetables, nuts, legumes, vegetable oils, tea/coffee) received positive scores, while less healthy plant foods (fruit juices, sweetened beverages, refined grains, potatoes, sweets/desserts) and animal foods received reverse scores. Lastly, we created an unhealthful plant-based diet index (uPDI) by assigning positive scores to less healthy plant foods and reverse scores to healthy plant foods and animal foods. We documented 16,162 incident T2D cases during 4,102,369 person-years of follow-up. In pooled multivariable-adjusted analysis, both PDI and hPDI were inversely associated with T2D (PDI: hazard ratio [HR] for extreme deciles 0.51, 95% CI 0.47-0.55, p trend < 0.001; hPDI: HR for extreme deciles 0.55, 95% CI 0.51-0.59, p trend < 0.001). The association of T2D with PDI was considerably attenuated when we additionally adjusted for body mass index (BMI) categories (HR 0.80, 95% CI 0.74-0.87, p trend < 0.001), while that with hPDI remained largely unchanged (HR 0.66, 95% CI 0.61-0.72, p trend < 0.001). uPDI was positively associated with T2D even after BMI adjustment (HR for extreme deciles 1.16, 95% CI 1.08-1.25, p trend < 0.001). Limitations of the study include self-reported diet assessment, with the possibility of measurement error, and the potential for residual or unmeasured confounding given the observational nature of the study design. Our study suggests that plant-based diets, especially when rich in high-quality plant foods, are associated with substantially lower risk of developing T2D. This supports current recommendations to shift to diets rich in healthy plant foods, with lower intake of less healthy plant and animal foods.
Murabito, Joanne M.; White, Charles C.; Kavousi, Maryam; Sun, Yan V.; Feitosa, Mary F.; Nambi, Vijay; Lamina, Claudia; Schillert, Arne; Coassin, Stefan; Bis, Joshua C.; Broer, Linda; Crawford, Dana C.; Franceschini, Nora; Frikke-Schmidt, Ruth; Haun, Margot; Holewijn, Suzanne; Huffman, Jennifer E.; Hwang, Shih-Jen; Kiechl, Stefan; Kollerits, Barbara; Montasser, May E.; Nolte, Ilja M.; Rudock, Megan E.; Senft, Andrea; Teumer, Alexander; van der Harst, Pim; Vitart, Veronique; Waite, Lindsay L.; Wood, Andrew R.; Wassel, Christina L.; Absher, Devin M.; Allison, Matthew A.; Amin, Najaf; Arnold, Alice; Asselbergs, Folkert W.; Aulchenko, Yurii; Bandinelli, Stefania; Barbalic, Maja; Boban, Mladen; Brown-Gentry, Kristin; Couper, David J.; Criqui, Michael H.; Dehghan, Abbas; Heijer, Martin den; Dieplinger, Benjamin; Ding, Jingzhong; Dörr, Marcus; Espinola-Klein, Christine; Felix, Stephan B.; Ferrucci, Luigi; Folsom, Aaron R.; Fraedrich, Gustav; Gibson, Quince; Goodloe, Robert; Gunjaca, Grgo; Haltmayer, Meinhard; Heiss, Gerardo; Hofman, Albert; Kieback, Arne; Kiemeney, Lambertus A.; Kolcic, Ivana; Kullo, Iftikhar J.; Kritchevsky, Stephen B.; Lackner, Karl J.; Li, Xiaohui; Lieb, Wolfgang; Lohman, Kurt; Meisinger, Christa; Melzer, David; Mohler, Emile R; Mudnic, Ivana; Mueller, Thomas; Navis, Gerjan; Oberhollenzer, Friedrich; Olin, Jeffrey W.; O’Connell, Jeff; O’Donnell, Christopher J.; Palmas, Walter; Penninx, Brenda W.; Petersmann, Astrid; Polasek, Ozren; Psaty, Bruce M.; Rantner, Barbara; Rice, Ken; Rivadeneira, Fernando; Rotter, Jerome I.; Seldenrijk, Adrie; Stadler, Marietta; Summerer, Monika; Tanaka, Toshiko; Tybjaerg-Hansen, Anne; Uitterlinden, Andre G.; van Gilst, Wiek H.; Vermeulen, Sita H.; Wild, Sarah H.; Wild, Philipp S.; Willeit, Johann; Zeller, Tanja; Zemunik, Tatijana; Zgaga, Lina; Assimes, Themistocles L.; Blankenberg, Stefan; Boerwinkle, Eric; Campbell, Harry; Cooke, John P.; de Graaf, Jacqueline; Herrington, David; Kardia, Sharon L. R.; Mitchell, Braxton D.; Murray, Anna; Münzel, Thomas; Newman, Anne; Oostra, Ben A.; Rudan, Igor; Shuldiner, Alan R.; Snieder, Harold; van Duijn, Cornelia M.; Völker, Uwe; Wright, Alan F.; Wichmann, H.-Erich; Wilson, James F.; Witteman, Jacqueline C.M.; Liu, Yongmei; Hayward, Caroline; Borecki, Ingrid B.; Ziegler, Andreas; North, Kari E.; Cupples, L. Adrienne; Kronenberg, Florian
2012-01-01
Background Genetic determinants of peripheral arterial disease (PAD) remain largely unknown. To identify genetic variants associated with the ankle-brachial index (ABI), a noninvasive measure of PAD, we conducted a meta-analysis of genome-wide association study data from 21 population-based cohorts. Methods and Results Continuous ABI and PAD (ABI≤0.9) phenotypes adjusted for age and sex were examined. Each study conducted genotyping and imputed data to the ~2.5 million SNPs in HapMap. Linear and logistic regression models were used to test each SNP for association with ABI and PAD using additive genetic models. Study-specific data were combined using fixed-effects inverse variance weighted meta-analyses. There were a total of 41,692 participants of European ancestry (~60% women, mean ABI 1.02 to 1.19), including 3,409 participants with PAD and with GWAS data available. In the discovery meta-analysis, rs10757269 on chromosome 9 near CDKN2B had the strongest association with ABI (β= −0.006, p=2.46x10−8). We sought replication of the 6 strongest SNP associations in 5 population-based studies and 3 clinical samples (n=16,717). The association for rs10757269 strengthened in the combined discovery and replication analysis (p=2.65x10−9). No other SNP associations for ABI or PAD achieved genome-wide significance. However, two previously reported candidate genes for PAD and one SNP associated with coronary artery disease (CAD) were associated with ABI : DAB21P (rs13290547, p=3.6x10−5); CYBA (rs3794624, p=6.3x10−5); and rs1122608 (LDLR, p=0.0026). Conclusions GWAS in more than 40,000 individuals identified one genome-wide significant association on chromosome 9p21 with ABI. Two candidate genes for PAD and 1 SNP for CAD are associated with ABI. PMID:22199011
Viola, Ermelinda; Opri, Sibilla; Moretti, Ugo; Leone, Roberto; Casini, Maria Luisa; Ruggieri, Sara; Minore, Claudia; Conforti, Anita
2014-08-01
The aim of this study was to analyze the cases of gynecomastia associated with α1A-adrenergic receptor antagonists (α1-ARAs) in the Italian spontaneous reporting system database (Rete Nazionale di Farmacovigilanza or RNF) and in the World Health Organization ICSRs database (VigiBase(™)), focusing on tamsulosin use. We analyzed the spontaneous reports of gynecomastia related to the use of α1-ARAs and collected from the RNF and from VigiBase(™) up to December 2012. Cases of gynecomastia have been defined as reports associated with gynecomastia according with Medical Dictionary for Regulatory Activities (MedDRA). Reporting odds ratio (ROR) and Information Component (IC) were calculated as measures of disproportionality in RNF and VigiBase(™), respectively. Up to December 2012, about 186,000 reports were recorded in the RNF. Among these, 902 reports of adverse drug reaction (ADR) have been associated with the use of at least one α1-ARAs. Of these, in 15 cases, gynecomastia was a listed ADR: in 10, the suspected drug was tamsulosin (in eight, it was the sole suspect); in two, doxazosin and alfuzosin, respectively; and in one, terazosin. ROR for tamsulosin was 5.3 (95% CI 1.8, 15.7). In VigiBase(™), 84 reports of gynecomastia indicated tamsulosin as suspected drug. Tamsulosin-associated gynecomastia showed the highest IC value within this class of drugs (IC 95% 2.43). In this study, we highlight a possible association between gynecomastia and tamsulosin use. To our knowledge, this association has not been described before and could represent a potential signal.
Predictors of Start of Different Antidepressants in Patient Charts among Patients with Depression
Kim, Hyungjin Myra; Zivin, Kara; Choe, Hae Mi; Stano, Clare M.; Ganoczy, Dara; Walters, Heather; Valenstein, Marcia
2016-01-01
Background In usual psychiatric care, antidepressant treatments are selected based on physician and patient preferences rather than being randomly allocated, resulting in spurious associations between these treatments and outcome studies. Objectives To identify factors recorded in electronic medical chart progress notes predictive of antidepressant selection among patients who had received a depression diagnosis. Methods This retrospective study sample consisted of 556 randomly selected Veterans Health Administration (VHA) patients diagnosed with depression from April 1, 1999 to September 30, 2004, stratified by the antidepressant agent, geographic region, gender, and year of depression cohort entry. Predictors were obtained from administrative data, and additional variables were abstracted from electronic medical chart notes in the year prior to the start of the antidepressant in five categories: clinical symptoms and diagnoses, substance use, life stressors, behavioral/ideation measures (e.g., suicide attempts), and treatments received. Multinomial logistic regression analysis was used to assess the predictors associated with different antidepressant prescribing, and adjusted relative risk ratios (RRR) are reported. Results Of the administrative data-based variables, gender, age, illicit drug abuse or dependence, and number of psychiatric medications in prior year were significantly associated with antidepressant selection. After adjusting for administrative data-based variables, sleep problems (RRR = 2.47) or marital issues (RRR = 2.64) identified in the charts were significantly associated with prescribing mirtazapine rather than sertraline; however, no other chart-based variables showed a significant association or an association with a large magnitude. Conclusion Some chart data-based variables were predictive of antidepressant selection, but we neither found many nor found them highly predictive of antidepressant selection in patients treated for depression. PMID:25943003
NASA Technical Reports Server (NTRS)
Capps, Stephen; Lorandos, Jason; Akhidime, Eval; Bunch, Michael; Lund, Denise; Moore, Nathan; Murakawa, Kiosuke
1989-01-01
The purpose of this study is to investigate comprehensive design requirements associated with designing habitats for humans in a partial gravity environment, then to apply them to a lunar base design. Other potential sites for application include planetary surfaces such as Mars, variable-gravity research facilities, and a rotating spacecraft. Design requirements for partial gravity environments include locomotion changes in less than normal earth gravity; facility design issues, such as interior configuration, module diameter, and geometry; and volumetric requirements based on the previous as well as psychological issues involved in prolonged isolation. For application to a lunar base, it is necessary to study the exterior architecture and configuration to insure optimum circulation patterns while providing dual egress; radiation protection issues are addressed to provide a safe and healthy environment for the crew; and finally, the overall site is studied to locate all associated facilities in context with the habitat. Mission planning is not the purpose of this study; therefore, a Lockheed scenario is used as an outline for the lunar base application, which is then modified to meet the project needs. The goal of this report is to formulate facts on human reactions to partial gravity environments, derive design requirements based on these facts, and apply the requirements to a partial gravity situation which, for this study, was a lunar base.
ERIC Educational Resources Information Center
Waterhouse, Peter; Virgona, Crina; Brown, Richard
2006-01-01
This research sought to document and better understand four evolving learning communities in Victoria. It was based upon an earlier study by the Victorian Local Governance Association (VLGA) (Snelling, 2003). The study was qualitative in nature, based on face-to-face interviews and case studies. This supporting document provides the literature…