Science.gov

Sample records for additive genetic influences

  1. Genetic variation at the TPH2 gene influences impulsivity in addition to eating disorders.

    PubMed

    Slof-Op't Landt, Margarita C T; Bartels, Meike; Middeldorp, Christel M; van Beijsterveldt, Catherina E M; Slagboom, P Eline; Boomsma, Dorret I; van Furth, Eric F; Meulenbelt, Ingrid

    2013-01-01

    Genes are involved in eating disorders (EDs) and self-induced vomiting (SV), a key symptom of different types of EDs. Perfectionism and impulsivity are potential risk factors for EDs. TPH2 (tryptophan hydroxylase 2) SNP rs1473473 was previously associated with anorexia nervosa and EDs characterized by SV. Could perfectionism or impulsivity be underlying the association between rs1473473 and EDs? Genetic association between TPH2 SNP rs1473473 and perfectionism or impulsivity was first evaluated in a random control group (N = 512). The associations obtained in this control group were subsequently tested in a group of patients with an ED (N = 267). The minor allele of rs1473473 (OR = 1.49) was more frequent in impulsive controls, but also in impulsive patients with an ED (OR = 1.83). The largest effect was found in the patients with an ED characterized by SV (OR = 2.51, p = 0.02). Genetic variation at the TPH2 gene appeared to affect impulsivity which, in turn, might predispose to the SV phenotype.

  2. Additive influence of genetic predisposition and conventional risk factors in the incidence of coronary heart disease: a population-based study in Greece

    Technology Transfer Automated Retrieval System (TEKTRAN)

    An additive genetic risk score (GRS) for coronary heart disease (CHD) has previously been associated with incident CHD in the population-based Greek European Prospective Investigation into Cancer and nutrition (EPIC) cohort. In this study, we explore GRS-‘environment’ joint actions on CHD for severa...

  3. Genetic influences on sarcoidosis.

    PubMed

    Ishihara, M; Ohno, S

    1997-01-01

    To investigate the genetic influences underlying the development of sarcoidosis, HLA class II genotyping was performed in Japanese patients with sarcoidosis and healthy controls using the PCR-RFLP method. The frequencies of both DR52 group antigen-associated alleles (HLA-DRB1*11, -DRB1*12 and -DRB1*14) and DRB1*08 alleles were higher in the patient group, suggesting that the common, specific amino acid residue on the DRB1 molecule of these alleles may determine susceptibility to sarcoidosis. Alternatively, it is possible that another susceptibility gene, linked to these DRB1 alleles, exists within the MHC region. We screened the TNFA, TNFB, HSP70-1 and Hum70t genes around the class III region, as well as the HLA-DMA and -DMB genes in the class II region, for genetic polymorphism in sarcoidosis. None of these genes suggested a susceptibility to sarcoidosis. These studies support the thesis that one of the major genetic factors controlling the development of sarcoidosis is located within the DRB1 locus in the HLA class II region.

  4. Non-additive and additive genetic effects on extraversion in 3314 Dutch adolescent twins and their parents.

    PubMed

    Rettew, David C; Rebollo-Mesa, Irene; Hudziak, James J; Willemsen, Gonneke; Boomsma, Dorret I

    2008-05-01

    The influence of non-additive genetic influences on personality traits has been increasingly reported in adult populations. Less is known, however, with respect to younger samples. In this study, we examine additive and non-additive genetic contributions to the personality trait of extraversion in 1,689 Dutch twin pairs, 1,505 mothers and 1,637 fathers of the twins. The twins were on average 15.5 years (range 12-18 years). To increase statistical power to detect non-additive genetic influences, data on extraversion were also collected in parents and simultaneously analyzed. Genetic modeling procedures incorporating age as a potential modifier of heritability showed significant influences of additive (20-23%) and non-additive genetic factors (31-33%) in addition to unshared environment (46-48%) for adolescents and for their parents. The additive genetic component was slightly and positively related to age. No significant sex differences were found for either extraversion means or for the magnitude of the genetic and environmental influences. There was no evidence of non-random mating for extraversion in the parental generation. Results show that in addition to additive genetic influences, extraversion in adolescents is influenced by non-additive genetic factors.

  5. Explaining additional genetic variation in complex traits

    PubMed Central

    Robinson, Matthew R.; Wray, Naomi R.; Visscher, Peter M.

    2015-01-01

    Genome-wide association studies (GWAS) have provided valuable insights into the genetic basis of complex traits, discovering >6000 variants associated with >500 quantitative traits and common complex diseases in humans. The associations identified so far represent only a fraction of those which influence phenotype, as there are likely to be very many variants across the entire frequency spectrum, each of which influences multiple traits, with only a small average contribution to the phenotypic variance. This presents a considerable challenge to further dissection of the remaining unexplained genetic variance within populations, which limits our ability to predict disease risk, identify new drug targets, improve and maintain food sources, and understand natural diversity. This challenge will be met within the current framework through larger sample size, better phenotyping including recording of non-genetic risk factors, focused study designs, and an integration of multiple sources of phenotypic and genetic information. The current evidence supports the application of quantitative genetic approaches, and we argue that one should retain simpler theories until simplicity can be traded for greater explanatory power. PMID:24629526

  6. Genetic influences on adolescent behavior.

    PubMed

    Dick, Danielle M; Adkins, Amy E; Kuo, Sally I-Chun

    2016-11-01

    Adolescence is a transitional, developmental phase with marked shifts in behavior, particularly as related to risk-taking and experimentation. Genetic influences on adolescent behavior also show marked changes across this developmental period; in fact, adolescence showcases the dynamic nature of genetic influences on human behavior. Using the twin studies literature on alcohol use and misuse, we highlight several principles of genetic influence on adolescent behavior. We illustrate how genetic influences change (increase) across adolescence, as individuals have more freedom to express their predispositions and to shape their social worlds. We show how there are multiple genetic pathways to risk, and how the environment can moderate the importance of genetic predispositions. Finally, we review the literature aimed at identifying specific genes involved in adolescent behavior and understanding how identified genes impact adolescent outcomes. Ultimately, understanding how genetic predispositions combine with environmental influences to impact pathways of risk and resilience should be translated into improved prevention and intervention efforts; this remains a rich area for future research.

  7. Intelligence: Genetic and Environmental Influences.

    ERIC Educational Resources Information Center

    Cancro, Robert, Ed.

    This book on the genetic and environmental influences on intelligence is comprised of the following papers: "The Structure of Intelligence in Relation to the Nature-Nurture Controversy," R. B. Cattell; "Theory of Intelligence," L. G. Humphreys; "Using Measured Intelligence Intelligently," P. R. Merrifield; "Intelligence: Definition, Theory, and…

  8. Unnatural reactive amino acid genetic code additions

    SciTech Connect

    Deiters, Alexander; Cropp, T Ashton; Chin, Jason W; Anderson, J Christopher; Schultz, Peter G

    2011-02-15

    This invention provides compositions and methods for producing translational components that expand the number of genetically encoded amino acids in eukaryotic cells. The components include orthogonal tRNAs, orthogonal aminoacyl-tRNA synthetases, orthogonal pairs of tRNAs/synthetases and unnatural amino acids. Proteins and methods of producing proteins with unnatural amino acids in eukaryotic cells are also provided.

  9. Unnatural reactive amino acid genetic code additions

    SciTech Connect

    Deiters, Alexander; Cropp, Ashton T; Chin, Jason W; Anderson, Christopher J; Schultz, Peter G

    2013-05-21

    This invention provides compositions and methods for producing translational components that expand the number of genetically encoded amino acids in eukaryotic cells. The components include orthogonal tRNAs, orthogonal aminoacyl-tRNA synthetases, pairs of tRNAs/synthetases and unnatural amino acids. Proteins and methods of producing proteins with unnatural amino acids in eukaryotic cells are also provided.

  10. Unnatural reactive amino acid genetic code additions

    SciTech Connect

    Deiters, Alexander; Cropp, T. Ashton; Chin, Jason W.; Anderson, J. Christopher; Schultz, Peter G.

    2011-08-09

    This invention provides compositions and methods for producing translational components that expand the number of genetically encoded amino acids in eukaryotic cells. The components include orthogonal tRNAs, orthogonal aminoacyl-tRNAsyn-thetases, pairs of tRNAs/synthetases and unnatural amino acids. Proteins and methods of producing proteins with unnatural amino acids in eukaryotic cells are also provided.

  11. Unnatural reactive amino acid genetic code additions

    SciTech Connect

    Deiters, Alexander; Cropp, T. Ashton; Chin, Jason W.; Anderson, J. Christopher; Schultz, Peter G.

    2014-08-26

    This invention provides compositions and methods for producing translational components that expand the number of genetically encoded amino acids in eukaryotic cells. The components include orthogonal tRNAs, orthogonal aminoacyl-tRNA synthetases, orthogonal pairs of tRNAs/synthetases and unnatural amino acids. Proteins and methods of producing proteins with unnatural amino acids in eukaryotic cells are also provided.

  12. Genetic influences on adolescent eating habits.

    PubMed

    Beaver, Kevin M; Flores, Tori; Boutwell, Brian B; Gibson, Chris L

    2012-04-01

    Behavioral genetic research shows that variation in eating habits and food consumption is due to genetic and environmental factors. The current study extends this line of research by examining the genetic contribution to adolescent eating habits. Analysis of sibling pairs drawn from the National Longitudinal Study of Adolescent Health (Add Health) revealed significant genetic influences on variance in an unhealthy eating habits scale (h(2) = .42), a healthy eating habits scale (h(2) = .51), the number of meals eaten at a fast-food restaurant (h(2) = .33), and the total number of meals eaten per week (h(2) = .26). Most of the remaining variance was due to nonshared environmental factors. Additional analyses conducted separately for males and females revealed a similar pattern of findings. The authors note the limitations of the study and offer suggestions for future research.

  13. Genetic influences on social cognition.

    PubMed

    Skuse, David H; Gallagher, Louise

    2011-05-01

    Human social behavior develops under the influence of genetic, environmental, and cultural factors. Social cognition comprises our ability to understand and respond appropriately to other people's social approaches or responses. The concept embraces self-knowledge and theory of mind, or the ability to think about emotions and behavior from the perspective of another person. The neuropeptides oxytocin (OT) and vasopressin (AVP) are now known to play an important role, affecting individual differences in parenting behavior, social recognition, and affiliative behaviors. The processes of social cognition are also supported by reward circuitry, underpinned by the dopaminergic neurotransmitter system. Reward processes build social relationships, in parenting and pair-bonding, and influence social interactions that require trust, or display altruism. The impact of emotional regulation upon social behavior, including mood and anxiety, is also mediated through the serotonergic system. Variation in activity of serotonergic networks in the brain influences emotional responsivity, including subjective feelings, physiological responses, emotional expressions, and the tendency to become engaged in action as a consequence of a feeling state. Genetic variation in the receptors associated with OT, AVP, dopamine, and serotonin has been intensively studied in humans and animal models. Recent findings are building an increasingly coherent picture of regulatory mechanisms.

  14. Influence of and additives on acetylene detonation

    NASA Astrophysics Data System (ADS)

    Drakon, A.; Emelianov, A.; Eremin, A.

    2014-03-01

    The influence of and admixtures (known as detonation suppressors for combustible mixtures) on the development of acetylene detonation was experimentally investigated in a shock tube. The time-resolved images of detonation wave development and propagation were registered using a high-speed streak camera. Shock wave velocity and pressure profiles were measured by five calibrated piezoelectric gauges and the formation of condensed particles was detected by laser light extinction. The induction time of detonation development was determined as the moment of a pressure rise at the end plate of the shock tube. It was shown that additive had no influence on the induction time. For , a significant promoting effect was observed. A simplified kinetic model was suggested and characteristic rates of diacetylene formation were estimated as the limiting stage of acetylene polymerisation. An analysis of the obtained data indicated that the promoting species is atomic chlorine formed by pyrolysis, which interacts with acetylene and produces radical, initiating a chain mechanism of acetylene decomposition. The results of kinetic modelling agree well with the experimental data.

  15. Genetic and Environmental Influences on Adolescent Attachment

    ERIC Educational Resources Information Center

    Fearon, Pasco; Shmueli-Goetz, Yael; Viding, Essi; Fonagy, Peter; Plomin, Robert

    2014-01-01

    Background: Twin studies consistently point to limited genetic influence on attachment security in the infancy period, but no study has examined whether this remains the case in later development. This study presents the findings from a twin study examining the relative importance of genetic and environmental influences on attachment in…

  16. The Expression of Additive and Nonadditive Genetic Variation under Stress

    PubMed Central

    Blows, M. W.; Sokolowski, M. B.

    1995-01-01

    Experimental lines of Drosophila melanogaster derived from a natural population, which had been isolated in the laboratory for ~70 generations, were crossed to determine if the expression of additive, dominance and epistatic genetic variation in development time and viability was associated with the environment. No association was found between the level of additive genetic effects and environmental value for either trait, but nonadditive genetic effects increased at both extremes of the environmental range for development time. The expression of high levels of dominance and epistatic genetic variation at environmental extremes may be a general expectation for some traits. The disruption of the epistatic gene complexes in the parental lines resulted in hybrid breakdown toward faster development and there was some indication of hybrid breakdown toward higher viability. A combination of genetic drift and natural selection had therefore resulted in different epistatic gene complexes being selected after ~70 generations from a common genetic base. After crossing, the hybrid populations were observed for 10 generations. Epistasis contributed on average 12 hr in development time. Fluctuating asymmetry in sternopleural bristle number also evolved in the hybrid populations, decreasing by >18% in the first seven generations after hybridization. PMID:7672585

  17. Genetic and Environmental Influences on Early Literacy

    ERIC Educational Resources Information Center

    Byrne, Brian; Olson, Richard K.; Samuelsson, Stefan; Wadsworth, Sally; Corley, Robin; DeFries, John C.; Willcutt, Erik

    2006-01-01

    Prereading and early reading skills of preschool twin children in Australia, Scandinavia and the United States were explored in a genetically sensitive design (max. N=627 preschool pairs and 422 kindergarten pairs). Analyses indicated a strong genetic influence on preschool phonological awareness, rapid naming and verbal memory. Print awareness,…

  18. Additive and nonadditive genetic variation in avian personality traits.

    PubMed

    van Oers, K; Drent, P J; de Jong, G; van Noordwijk, A J

    2004-11-01

    Individuals of all vertebrate species differ consistently in their reactions to mildly stressful challenges. These typical reactions, described as personalities or coping strategies, have a clear genetic basis, but the structure of their inheritance in natural populations is almost unknown. We carried out a quantitative genetic analysis of two personality traits (exploration and boldness) and the combination of these two traits (early exploratory behaviour). This study was carried out on the lines resulting from a two-directional artificial selection experiment on early exploratory behaviour (EEB) of great tits (Parus major) originating from a wild population. In analyses using the original lines, reciprocal F(1) and reciprocal first backcross generations, additive, dominance, maternal effects ands sex-dependent expression of exploration, boldness and EEB were estimated. Both additive and dominant genetic effects were important determinants of phenotypic variation in exploratory behaviour and boldness. However, no sex-dependent expression was observed in either of these personality traits. These results are discussed with respect to the maintenance of genetic variation in personality traits, and the expected genetic structure of other behavioural and life history traits in general.

  19. Additional mechanisms conferring genetic susceptibility to Alzheimer’s disease

    PubMed Central

    Calero, Miguel; Gómez-Ramos, Alberto; Calero, Olga; Soriano, Eduardo; Avila, Jesús; Medina, Miguel

    2015-01-01

    Familial Alzheimer’s disease (AD), mostly associated with early onset, is caused by mutations in three genes (APP, PSEN1, and PSEN2) involved in the production of the amyloid β peptide. In contrast, the molecular mechanisms that trigger the most common late onset sporadic AD remain largely unknown. With the implementation of an increasing number of case-control studies and the upcoming of large-scale genome-wide association studies there is a mounting list of genetic risk factors associated with common genetic variants that have been associated with sporadic AD. Besides apolipoprotein E, that presents a strong association with the disease (OR∼4), the rest of these genes have moderate or low degrees of association, with OR ranging from 0.88 to 1.23. Taking together, these genes may account only for a fraction of the attributable AD risk and therefore, rare variants and epistastic gene interactions should be taken into account in order to get the full picture of the genetic risks associated with AD. Here, we review recent whole-exome studies looking for rare variants, somatic brain mutations with a strong association to the disease, and several studies dealing with epistasis as additional mechanisms conferring genetic susceptibility to AD. Altogether, recent evidence underlines the importance of defining molecular and genetic pathways, and networks rather than the contribution of specific genes. PMID:25914626

  20. Genetic influence on family socioeconomic status and children's intelligence.

    PubMed

    Trzaskowski, Maciej; Harlaar, Nicole; Arden, Rosalind; Krapohl, Eva; Rimfeld, Kaili; McMillan, Andrew; Dale, Philip S; Plomin, Robert

    2014-01-01

    Environmental measures used widely in the behavioral sciences show nearly as much genetic influence as behavioral measures, a critical finding for interpreting associations between environmental factors and children's development. This research depends on the twin method that compares monozygotic and dizygotic twins, but key aspects of children's environment such as socioeconomic status (SES) cannot be investigated in twin studies because they are the same for children growing up together in a family. Here, using a new technique applied to DNA from 3000 unrelated children, we show significant genetic influence on family SES, and on its association with children's IQ at ages 7 and 12. In addition to demonstrating the ability to investigate genetic influence on between-family environmental measures, our results emphasize the need to consider genetics in research and policy on family SES and its association with children's IQ.

  1. IN718 Additive Manufacturing Properties and Influences

    NASA Technical Reports Server (NTRS)

    Lambert, Dennis M.

    2015-01-01

    The results of tensile, fracture, and fatigue testing of IN718 coupons produced using the selective laser melting (SLM) additive manufacturing technique are presented. The data have been "sanitized" to remove the numerical values, although certain references to material standards are provided. This document provides some knowledge of the effect of variation of controlled build parameters used in the SLM process, a snapshot of the capabilities of SLM in industry at present, and shares some of the lessons learned along the way. For the build parameter characterization, the parameters were varied over a range that was centered about the machine manufacturer's recommended value, and in each case they were varied individually, although some co-variance of those parameters would be expected. Tensile, fracture, and high-cycle fatigue properties equivalent to wrought IN718 are achievable with SLM-produced IN718. Build and post-build processes need to be determined and then controlled to established limits to accomplish this. It is recommended that a multi-variable evaluation, e.g., design-of experiment (DOE), of the build parameters be performed to better evaluate the co-variance of the parameters.

  2. IN718 Additive Manufacturing Properties and Influences

    NASA Technical Reports Server (NTRS)

    Lambert, Dennis M.

    2015-01-01

    The results of tensile, fracture, and fatigue testing of IN718 coupons produced using the selective laser melting (SLM) additive manufacturing technique are presented. The data has been "generalized" to remove the numerical values, although certain references to material standards are provided. This document provides some knowledge of the effect of variation of controlled build parameters used in the SLM process, a snapshot of the capabilities of SLM in industry at present, and shares some of the lessons learned along the way. For the build parameter characterization, the parameters were varied over a range about the machine manufacturer's recommended value, and in each case they were varied individually, although some co-variance of those parameters would be expected. SLM-produced IN718, tensile, fracture, and high-cycle fatigue properties equivalent to wrought IN718 are achievable. Build and post-build processes need to be determined and then controlled to established limits to accomplish this. It is recommended that a multi-variable evaluation, e.g., design-of-experiment (DOE), of the build parameters be performed to better evaluate the co-variance of the parameters.

  3. Genetic influences in common respiratory disorders.

    PubMed

    Workman, M Linda; Winkelman, Chris

    2008-06-01

    Respiratory disorders are common problems for adults and children in North America and generally represent the outcome of gene-environment interactions. Some problems are considered genetic in origin, such as cystic fibrosis, and others are considered environmental in origin, such as respiratory infections. Emerging information indicates that even genetic-based disorders are influenced by the environment and that environmental-based disorders are modified by personal genetic factors in individual physiologic responses. An understanding of an individual's personal risk factors for disease or health problem development can allow health care professionals to tailor health promotion strategies and treatment plans with appropriate environmental manipulation. This article explores the genetic influences that may affect the individual's physiologic responses and the consequences of environmental stimuli.

  4. The contribution of additive genetic variation to personality variation: heritability of personality.

    PubMed

    Dochtermann, Ned A; Schwab, Tori; Sih, Andrew

    2015-01-07

    Individual animals frequently exhibit repeatable differences from other members of their population, differences now commonly referred to as 'animal personality'. Personality differences can arise, for example, from differences in permanent environmental effects--including parental and epigenetic contributors--and the effect of additive genetic variation. Although several studies have evaluated the heritability of behaviour, less is known about general patterns of heritability and additive genetic variation in animal personality. As overall variation in behaviour includes both the among-individual differences that reflect different personalities and temporary environmental effects, it is possible for personality to be largely genetically influenced even when heritability of behaviour per se is quite low. The relative contribution of additive genetic variation to personality variation can be estimated whenever both repeatability and heritability are estimated for the same data. Using published estimates to address this issue, we found that approximately 52% of animal personality variation was attributable to additive genetic variation. Thus, while the heritability of behaviour is often moderate or low, the heritability of personality is much higher. Our results therefore (i) demonstrate that genetic differences are likely to be a major contributor to variation in animal personality and (ii) support the phenotypic gambit: that evolutionary inferences drawn from repeatability estimates may often be justified.

  5. Efficient Improvement of Silage Additives by Using Genetic Algorithms

    PubMed Central

    Davies, Zoe S.; Gilbert, Richard J.; Merry, Roger J.; Kell, Douglas B.; Theodorou, Michael K.; Griffith, Gareth W.

    2000-01-01

    The enormous variety of substances which may be added to forage in order to manipulate and improve the ensilage process presents an empirical, combinatorial optimization problem of great complexity. To investigate the utility of genetic algorithms for designing effective silage additive combinations, a series of small-scale proof of principle silage experiments were performed with fresh ryegrass. Having established that significant biochemical changes occur over an ensilage period as short as 2 days, we performed a series of experiments in which we used 50 silage additive combinations (prepared by using eight bacterial and other additives, each of which was added at six different levels, including zero [i.e., no additive]). The decrease in pH, the increase in lactate concentration, and the free amino acid concentration were measured after 2 days and used to calculate a “fitness” value that indicated the quality of the silage (compared to a control silage made without additives). This analysis also included a “cost” element to account for different total additive levels. In the initial experiment additive levels were selected randomly, but subsequently a genetic algorithm program was used to suggest new additive combinations based on the fitness values determined in the preceding experiments. The result was very efficient selection for silages in which large decreases in pH and high levels of lactate occurred along with low levels of free amino acids. During the series of five experiments, each of which comprised 50 treatments, there was a steady increase in the amount of lactate that accumulated; the best treatment combination was that used in the last experiment, which produced 4.6 times more lactate than the untreated silage. The additive combinations that were found to yield the highest fitness values in the final (fifth) experiment were assessed to determine a range of biochemical and microbiological quality parameters during full-term silage

  6. Efficient improvement of silage additives by using genetic algorithms.

    PubMed

    Davies, Z S; Gilbert, R J; Merry, R J; Kell, D B; Theodorou, M K; Griffith, G W

    2000-04-01

    The enormous variety of substances which may be added to forage in order to manipulate and improve the ensilage process presents an empirical, combinatorial optimization problem of great complexity. To investigate the utility of genetic algorithms for designing effective silage additive combinations, a series of small-scale proof of principle silage experiments were performed with fresh ryegrass. Having established that significant biochemical changes occur over an ensilage period as short as 2 days, we performed a series of experiments in which we used 50 silage additive combinations (prepared by using eight bacterial and other additives, each of which was added at six different levels, including zero [i.e. , no additive]). The decrease in pH, the increase in lactate concentration, and the free amino acid concentration were measured after 2 days and used to calculate a "fitness" value that indicated the quality of the silage (compared to a control silage made without additives). This analysis also included a "cost" element to account for different total additive levels. In the initial experiment additive levels were selected randomly, but subsequently a genetic algorithm program was used to suggest new additive combinations based on the fitness values determined in the preceding experiments. The result was very efficient selection for silages in which large decreases in pH and high levels of lactate occurred along with low levels of free amino acids. During the series of five experiments, each of which comprised 50 treatments, there was a steady increase in the amount of lactate that accumulated; the best treatment combination was that used in the last experiment, which produced 4.6 times more lactate than the untreated silage. The additive combinations that were found to yield the highest fitness values in the final (fifth) experiment were assessed to determine a range of biochemical and microbiological quality parameters during full-term silage fermentation. We

  7. Influence of dispersing additive on asphaltenes aggregation in model system

    NASA Astrophysics Data System (ADS)

    Gorshkov, A. M.; Shishmina, L. V.; Tukhvatullina, A. Z.; Ismailov, Yu R.; Ges, G. A.

    2016-09-01

    The work is devoted to investigation of the dispersing additive influence on asphaltenes aggregation in the asphaltenes-toluene-heptane model system by photon correlation spectroscopy method. The experimental relationship between the onset point of asphaltenes and their concentration in toluene has been obtained. The influence of model system composition on asphaltenes aggregation has been researched. The estimation of aggregative and sedimentation stability of asphaltenes in model system and system with addition of dispersing additive has been given.

  8. Genetic Influences Are Virtually Absent for Trust

    PubMed Central

    Van Lange, Paul A. M.; Vinkhuyzen, Anna A. E.; Posthuma, Danielle

    2014-01-01

    Over the past decades, numerous twin studies have revealed moderate to high heritability estimates for individual differences in a wide range of human traits, including cognitive ability, psychiatric disorders, and personality traits. Even factors that are generally believed to be environmental in nature have been shown to be under genetic control, albeit modest. Is such heritability also present in social traits that are conceptualized as causes and consequences of social interactions or in other ways strongly shaped by behavior of other people? Here we examine a population-based sample of 1,012 twins and relatives. We show that the genetic influence on generalized trust in other people (trust-in-others: h2 = 5%, ns), and beliefs regarding other people’s trust in the self (trust-in-self: h2 = 13%, ns), is virtually absent. As test-retest reliability for both scales were found to be moderate or high (r = .76 and r = .53, respectively) in an independent sample, we conclude that all variance in trust is likely to be accounted for by non-shared environmental influences. We show that, relative to cognitive abilities, psychiatric disorders, and classic personality variables, genetic influences are smaller for trust, and propose that experiences with or observations of the behavior of other people shape trust more strongly than other traits. PMID:24709897

  9. Genetic and metabolic influences on LDL subclasses

    SciTech Connect

    Krauss, R.M.; Rotter, J.I.; Lusis, A.J.

    1994-09-01

    Genetic and environmental factors influence LDL particle size and density, and expression of an atherogenic lipoprotein phenotype (ALP) characterized by predominance of small, dense LDL particles. Linkage of ALP the LDL receptor locus has been reported previously. Quantitative sib-pair relative-pair linkage methodologies were used to test for linkage of LDL particle size to candidate loci in 25 large pedigrees with familial coronary artery disease. Linkage to the LDL receptor gene locus was confirmed (p=0.008). Evidence was also obtained for linkage to the genes for apoCIII, cholesteryl ester transfer protein, and manganese superoxide dismutase. The results suggest multiple genetic determinants of LDL particle size that may involve different metabolic mechanisms giving rise to small, dense LDL and increased atherosclerosis risk.

  10. Genetic influences on the development of alcoholism.

    PubMed

    Enoch, Mary-Anne

    2013-11-01

    Alcoholism has a substantial heritability yet the detection of specific genetic influences has largely proved elusive. The strongest findings are with genes encoding alcohol metabolizing enzymes. A few candidate genes such as GABRA2 have shown robust associations with alcoholism. Moreover, it has become apparent that variants in stress-related genes such as CRHR1, may only confer risk in individuals exposed to trauma, particularly in early life. Over the past decade there have been tremendous advances in large scale SNP genotyping technologies allowing for genome-wide associations studies (GWAS). As a result, it is now recognized that genetic risk for alcoholism is likely to be due to common variants in very many genes, each of small effect, although rare variants with large effects might also play a role. This has resulted in a paradigm shift away from gene centric studies toward analyses of gene interactions and gene networks within biologically relevant pathways.

  11. Individual Differences in Scotopic Visual Acuity and Contrast Sensitivity: Genetic and Non-Genetic Influences

    PubMed Central

    Bartholomew, Alex J.; Lad, Eleonora M.; Cao, Dingcai; Bach, Michael; Cirulli, Elizabeth T.

    2016-01-01

    Despite the large amount of variation found in the night (scotopic) vision capabilities of healthy volunteers, little effort has been made to characterize this variation and factors, genetic and non-genetic, that influence it. In the largest population of healthy observers measured for scotopic visual acuity (VA) and contrast sensitivity (CS) to date, we quantified the effect of a range of variables on visual performance. We found that young volunteers with excellent photopic vision exhibit great variation in their scotopic VA and CS, and this variation is reliable from one testing session to the next. We additionally identified that factors such as Circadian preference, iris color, astigmatism, depression, sex and education have no significant impact on scotopic visual function. We confirmed previous work showing that the amount of time spent on the vision test influences performance and that laser eye surgery results in worse scotopic vision. We also showed a significant effect of intelligence and photopic visual performance on scotopic VA and CS, but all of these variables collectively explain <30% of the variation in scotopic vision. The wide variation seen in young healthy volunteers with excellent photopic vision, the high test-retest agreement, and the vast majority of the variation in scotopic vision remaining unexplained by obvious non-genetic factors suggests a strong genetic component. Our preliminary genome-wide association study (GWAS) of 106 participants ruled out any common genetic variants of very large effect and paves the way for future, larger genetic studies of scotopic vision. PMID:26886100

  12. Genetic influences in caries and periodontal diseases.

    PubMed

    Hassell, T M; Harris, E L

    1995-01-01

    Deciphering the relative roles of heredity and environmental factors ("nature vs. nurture") in the pathogenesis of dental caries and diseases of the periodontium has occupied clinical and basic researchers for decades. Success in the endeavor has come more easily in the case of caries; the complex interactions that occur between host-response mechanisms and putative microbiologic pathogens in periodontal disease have made elucidation of genetic factors in disease susceptibility more difficult. In addition, during the 30-year period between 1958 and 1987, only meager resources were targeted toward the "nature" side of the nature/nurture dipole in periodontology. In this article, we present a brief history of the development of genetic epistemology, then describe the three main research mechanisms by which questions about the hereditary component of diseases in humans can be addressed. A critical discussion of the evidence for a hereditary component in caries susceptibility is next presented, also from a historical perspective. The evolution of knowledge concerning possible genetic ("endogenous", "idiotypic") factors in the pathogenesis of inflammatory periodontal disease is initiated with an analysis of some foreign-language (primarily German) literature that is likely to be unfamiliar to the reader. We identify a turning point at about 1960, when the periodontal research community turned away from genetics in favor of microbiology research. During the past five years, investigators have re-initiated the search for the hereditary component in susceptibility to common adult periodontal disease; this small but growing body of literature is reviewed. Recent applications of in vitro methods for genetic analyses in periodontal research are presented, with an eye toward a future in which persons who are at risk--genetically predisposed--to periodontal disease may be identified and targeted for interventive strategies. Critical is the realization that genes and environment

  13. Genetic Influences on Learning Disabilties I: Clinical Genetics.

    ERIC Educational Resources Information Center

    Smith, Shelley D.; Pennington, Bruce F.

    1983-01-01

    A discussion of basic genetic principles is followed by a review of selected genetic syndromes involving learning disabilites (such as Noonan Syndrome, Neurofibromatosis, Pheuylketonuria, and cleft lip and palate). Guidelines for securing a genetic evaluation are given. (CL)

  14. Genetic influences in sport and physical performance.

    PubMed

    Puthucheary, Zudin; Skipworth, James R A; Rawal, Jai; Loosemore, Mike; Van Someren, Ken; Montgomery, Hugh E

    2011-10-01

    The common inheritance of approximately 20 000 genes defines each of us as human. However, substantial variation exists between individual human genomes, including 'replication' of gene sequences (copy number variation, tandem repeats), or changes in individual base pairs (mutations if <1% frequency and single nucleotide polymorphisms if >1% frequency). A vast array of human phenotypes (e.g. muscle strength, skeletal structure, tendon elasticity, and heart and lung size) influences sports performance, each itself the result of a complex interaction between a myriad of anatomical, biochemical and physiological systems. This article discusses the role for genetic influences in influencing sporting performance and injury, offering specific exemplars where these are known. Many of these preferable genotypes are uncommon, and their combination even rarer. In theory, the chances of an individual having a perfect sporting genotype are much lower than 1 in 20 million - as the number of associated polymorphisms increase, the odds decrease correspondingly. Many recently discovered polymorphisms that may affect sports performance have been described in animal or other human based models, and have been included in this review if they may apply to athletic populations. Muscle performance is heavily influenced by basal muscle mass and its dynamic response to training. Genetic factors account for approximately 50-80% of inter-individual variation in lean body mass, with impacts detected on both 'training-naive' muscle mass and its growth response. Several cytokines such as interleukin-6 and -15, cilliary neurotrophic factor and insulin-like growth factor (IGF) have myoanabolic effects. Genotype-associated differences in endocrine function, necessary for normal skeletal muscle growth and function, may also be of significance, with complex interactions existing between thyroxine, growth hormone and the downstream regulators of the anabolic pathways (such as IGF-1 and IGF-2

  15. Genetic and Environmental Influences on Behavior: Capturing All the Interplay

    ERIC Educational Resources Information Center

    Johnson, Wendy

    2007-01-01

    Basic quantitative genetic models of human behavioral variation have made clear that individual differences in behavior cannot be understood without acknowledging the importance of genetic influences. Yet these basic models estimate average, population-level genetic and environmental influences, obscuring differences that might exist within the…

  16. Genetic Assessment of Additional Endophenotypes from the Consortium on the Genetics of Schizophrenia Family Study

    PubMed Central

    Greenwood, Tiffany A.; Lazzeroni, Laura C.; Calkins, Monica E.; Freedman, Robert; Green, Michael F.; Gur, Raquel E.; Gur, Ruben C.; Light, Gregory A.; Nuechterlein, Keith H.; Olincy, Ann; Radant, Allen D.; Seidman, Larry J.; Siever, Larry J.; Silverman, Jeremy M.; Stone, William S.; Sugar, Catherine A.; Swerdlow, Neal R.; Tsuang, Debby W.; Tsuang, Ming T.; Turetsky, Bruce I.; Braff, David L.

    2015-01-01

    The Consortium on the Genetics of Schizophrenia Family Study (COGS-1) has previously reported our efforts to characterize the genetic architecture of 12 primary endophenotypes for schizophrenia. We now report the characterization of 13 additional measures derived from the same endophenotype test paradigms in the COGS-1 families. Nine of the measures were found to discriminate between schizophrenia patients and controls, were significantly heritable (31 to 62%), and were sufficiently independent of previously assessed endophenotypes, demonstrating utility as additional endophenotypes. Genotyping via a custom array of 1536 SNPs from 94 candidate genes identified associations for CTNNA2, ERBB4, GRID1, GRID2, GRIK3, GRIK4, GRIN2B, NOS1AP, NRG1, and RELN across multiple endophenotypes. An experiment-wide p value of 0.003 suggested that the associations across all SNPs and endophenotypes collectively exceeded chance. Linkage analyses performed using a genome-wide SNP array further identified significant or suggestive linkage for six of the candidate endophenotypes, with several genes of interest located beneath the linkage peaks (e.g., CSMD1, DISC1, DLGAP2, GRIK2, GRIN3A, and SLC6A3). While the partial convergence of the association and linkage likely reflects differences in density of gene coverage provided by the distinct genotyping platforms, it is also likely an indication of the differential contribution of rare and common variants for some genes and methodological differences in detection ability. Still, many of the genes implicated by COGS through endophenotypes have been identified by independent studies of common, rare, and de novo variation in schizophrenia, all converging on a functional genetic network related to glutamatergic neurotransmission that warrants further investigation. PMID:26597662

  17. Additive genetic contribution to symptom dimensions in major depressive disorder.

    PubMed

    Pearson, Rahel; Palmer, Rohan H C; Brick, Leslie A; McGeary, John E; Knopik, Valerie S; Beevers, Christopher G

    2016-05-01

    Major depressive disorder (MDD) is a phenotypically heterogeneous disorder with a complex genetic architecture. In this study, genomic-relatedness-matrix restricted maximum-likelihood analysis (GREML) was used to investigate the extent to which variance in depression symptoms/symptom dimensions can be explained by variation in common single nucleotide polymorphisms (SNPs) in a sample of individuals with MDD (N = 1,558) who participated in the National Institute of Mental Health Sequenced Treatment Alternatives to Relieve Depression (STAR*D) study. A principal components analysis of items from the Hamilton Rating Scale for Depression (HRSD) obtained prior to treatment revealed 4 depression symptom components: (a) appetite, (b) core depression symptoms (e.g., depressed mood, anhedonia), (c) insomnia, and (d) anxiety. These symptom dimensions were associated with SNP-based heritability (hSNP2) estimates of 30%, 14%, 30%, and 5%, respectively. Results indicated that the genetic contribution of common SNPs to depression symptom dimensions were not uniform. Appetite and insomnia symptoms in MDD had a relatively strong genetic contribution whereas the genetic contribution was relatively small for core depression and anxiety symptoms. While in need of replication, these results suggest that future gene discovery efforts may strongly benefit from parsing depression into its constituent parts. (PsycINFO Database Record

  18. Genetic predisposition to coronary heart disease and stroke using an additive genetic risk score: a population-based study in Greece

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Objective: To determine the extent to which the risk for incident coronary heart disease (CHD) increases in relation to a genetic risk score (GRS) that additively integrates the influence of high-risk alleles in nine documented single nucleotide polymorphisms (SNPs) for CHD, and to examine whether t...

  19. Pattern of inbreeding depression, condition dependence, and additive genetic variance in Trinidadian guppy ejaculate traits

    PubMed Central

    Gasparini, Clelia; Devigili, Alessandro; Dosselli, Ryan; Pilastro, Andrea

    2013-01-01

    In polyandrous species, a male's reproductive success depends on his fertilization capability and traits enhancing competitive fertilization success will be under strong, directional selection. This leads to the prediction that these traits should show stronger condition dependence and larger genetic variance than other traits subject to weaker or stabilizing selection. While empirical evidence of condition dependence in postcopulatory traits is increasing, the comparison between sexually selected and ‘control’ traits is often based on untested assumption concerning the different strength of selection acting on these traits. Furthermore, information on selection in the past is essential, as both condition dependence and genetic variance of a trait are likely to be influenced by the pattern of selection acting historically on it. Using the guppy (Poecilia reticulata), a livebearing fish with high levels of multiple paternity, we performed three independent experiments on three ejaculate quality traits, sperm number, velocity, and size, which have been previously shown to be subject to strong, intermediate, and weak directional postcopulatory selection, respectively. First, we conducted an inbreeding experiment to determine the pattern of selection in the past. Second, we used a diet restriction experiment to estimate their level of condition dependence. Third, we used a half-sib/full-sib mating design to estimate the coefficients of additive genetic variance (CVA) underlying these traits. Additionally, using a simulated predator evasion test, we showed that both inbreeding and diet restriction significantly reduced condition. According to predictions, sperm number showed higher inbreeding depression, stronger condition dependence, and larger CVA than sperm velocity and sperm size. The lack of significant genetic correlation between sperm number and velocity suggests that the former may respond to selection independently one from other ejaculate quality traits

  20. Genetic Variations Strongly Influence Phenotypic Outcome in the Mouse Retina

    PubMed Central

    Jelcick, Austin S.; Yuan, Yang; Leehy, Barrett D.; Cox, Lakeisha C.; Silveira, Alexandra C.; Qiu, Fang; Schenk, Sarah; Sachs, Andrew J.; Morrison, Margaux A.; Nystuen, Arne M.; DeAngelis, Margaret M.; Haider, Neena B.

    2011-01-01

    Variation in genetic background can significantly influence the phenotypic outcome of both disease and non-disease associated traits. Additionally, differences in temporal and strain specific gene expression can also contribute to phenotypes in the mammalian retina. This is the first report of microarray based cross-strain analysis of gene expression in the retina investigating genetic background effects. Microarray analyses were performed on retinas from the following mouse strains: C57BL6/J, AKR/J, CAST/EiJ, and NOD.NON-H2-nb1 at embryonic day 18.5 (E18.5) and postnatal day 30.5 (P30.5). Over 3000 differentially expressed genes were identified between strains and developmental stages. Differential gene expression was confirmed by qRT-PCR, Western blot, and immunohistochemistry. Three major gene networks were identified that function to regulate retinal or photoreceptor development, visual perception, cellular transport, and signal transduction. Many of the genes in these networks are implicated in retinal diseases such as bradyopsia, night-blindness, and cone-rod dystrophy. Our analysis revealed strain specific variations in cone photoreceptor cell patterning and retinal function. This study highlights the substantial impact of genetic background on both development and function of the retina and the level of gene expression differences tolerated for normal retinal function. These strain specific genetic variations may also be present in other tissues. In addition, this study will provide valuable insight for the development of more accurate models for human retinal diseases. PMID:21779340

  1. Genetic and environmental influences on affiliation with deviant peers during adolescence and early adulthood.

    PubMed

    Tarantino, Nicholas; Tully, Erin C; Garcia, Sarah E; South, Susan; Iacono, William G; McGue, Matt

    2014-03-01

    Adolescence and early adulthood is a time when peer groups become increasingly influential in the lives of young people. Youths exposed to deviant peers risk susceptibility to externalizing behaviors and related psychopathology. In addition to environmental correlates of deviant peer affiliation, a growing body of evidence has suggested that affiliation with deviant peers is heritable. This study examined the magnitude of genetic and environmental influences on affiliation with deviant peers, changes in the relative importance of these factors, and which of these factors contribute to the stability of affiliation across this critical developmental period using a longitudinal twin study design that assessed same-sex twins (485 monozygotic pairs, 271 dizygotic pairs) at 3 discrete ages: 15, 18, and 21 years of age. Biometric models revealed that genetic influences increased with age. New genetic influences appeared during late adolescence, and no new genetic influences emerged by age 21. Environmental influences shared by sibling pairs decreased with age, while the proportion of nonshared environmental effects unique to each individual remained relatively stable over the course of development. Shared environmental influences were largely age-overlapping, whereas nonshared environmental influences were largely age-specific. In summary, this study found variance in affiliation with deviant peers is explained by shared and nonshared environment effects as well as by genetic influences (46% by age 21), supporting the role of genetically influenced selection factors. The shared environment was almost exclusively responsible for the stability in late adolescence, while genetic influences were primarily responsible for stability in early adulthood.

  2. Genetic and Environmental Influences on Affiliation with Deviant Peers during Adolescence and Early Adulthood

    PubMed Central

    Tarantino, Nicholas; Tully, Erin C.; Garcia, Sarah E.; South, Susan; Iacono, William G.; McGue, Matt

    2014-01-01

    Adolescence and early adulthood is a time when peer groups become increasingly influential in the lives of young people. Youth exposed to deviant peers risk susceptibility to externalizing behaviors and related psychopathology. In addition to environmental correlates of deviant peer affiliation, a growing body of evidence suggests that affiliation with deviant peers is heritable. This study examined the magnitude of genetic and environmental influences on affiliation with deviant peers, changes in the relative importance of these factors, and which of these factors contribute to the stability of affiliation across this critical developmental period using a longitudinal twin study design that assessed same-sex twins (485 monozygotic pairs, 271 dizygotic pairs) at three discrete ages-15-, 18-, and 21-years-old. Biometric models revealed that genetic influences increased with age. New genetic influences appeared during late adolescence, and no new genetic influences emerged by age 21. Environmental influences shared by sibling pairs decreased with age, while the proportion of nonshared environmental effects unique to each individual remained relatively stable over the course of development. Shared environmental influences were largely age-overlapping whereas nonshared environmental influences were largely age-specific. In summary, this study found variance in affiliation with deviant peers is explained by shared and nonshared environment effects as well as by genetic influences (46% by age 21), supporting the role of genetically influenced selection factors. The shared environment was almost exclusively responsible for the stability in late adolescence, while genetic influences were primarily responsible for stability in early adulthood. PMID:24015689

  3. Genetic and environmental influences on impulsivity: A meta-analysis of twin, family and adoption studies

    PubMed Central

    Bezdjian, Serena; Baker, Laura A.; Tuvblad, Catherine

    2011-01-01

    A meta-analysis of twin, family and adoption studies was conducted to estimate the magnitude of genetic and environmental influences on impulsivity. The best fitting model for 41 key studies (58 independent samples from 14 month old infants to adults; N = 27,147) included equal proportions of variance due to genetic (0.50) and non-shared environmental (0.50) influences, with genetic effects being both additive (0.38) and non-additive (0.12). Shared environmental effects were unimportant in explaining individual differences in impulsivity. Age, sex, and study design (twin vs. adoption) were all significant moderators of the magnitude of genetic and environmental influences on impulsivity. The relative contribution of genetic effects (broad sense heritability) and unique environmental effects were also found to be important throughout development from childhood to adulthood. Total genetic effects were found to be important for all ages, but appeared to be strongest in children. Analyses also demonstrated that genetic effects appeared to be stronger in males than in females. Method of assessment (laboratory tasks vs. questionnaires), however, was not a significant moderator of the genetic and environmental influences on impulsivity. These results provide a structured synthesis of existing behavior genetic studies on impulsivity by providing a clearer understanding of the relative genetic and environmental contributions in impulsive traits through various stages of development. PMID:21889436

  4. The influence of genetics on contemporary art.

    PubMed

    Nelkin, Dorothy; Anker, Suzanne

    2002-12-01

    Contemporary visual artists are incorporating genetic concepts into their work, and this work has become prominently featured in numerous museum and gallery exhibitions. Such art uses visual images that represent the language of genomics, the values affected by genetic understanding of the body and the implications of bioengineering. Here, we present various examples of how artists depict aspects of genetics as cultural icons and symbols; in particular, their focus on DNA as information and on the commercialization of genetics research material.

  5. Genetic Influences on Adolescent Eating Habits

    ERIC Educational Resources Information Center

    Beaver, Kevin M.; Flores, Tori; Boutwell, Brian B.; Gibson, Chris L.

    2012-01-01

    Behavioral genetic research shows that variation in eating habits and food consumption is due to genetic and environmental factors. The current study extends this line of research by examining the genetic contribution to adolescent eating habits. Analysis of sibling pairs drawn from the National Longitudinal Study of Adolescent Health (Add Health)…

  6. Factors influencing QTL mapping accuracy under complicated genetic models by computer simulation.

    PubMed

    Su, C F; Wang, W; Gong, S L; Zuo, J H; Li, S J

    2016-12-19

    The accuracy of quantitative trait loci (QTLs) identified using different sample sizes and marker densities was evaluated in different genetic models. Model I assumed one additive QTL; Model II assumed three additive QTLs plus one pair of epistatic QTLs; and Model III assumed two additive QTLs with opposite genetic effects plus two pairs of epistatic QTLs. Recombinant inbred lines (RILs) (50-1500 samples) were simulated according to the Models to study the influence of different sample sizes under different genetic models on QTL mapping accuracy. RILs with 10-100 target chromosome markers were simulated according to Models I and II to evaluate the influence of marker density on QTL mapping accuracy. Different marker densities did not significantly influence accurate estimation of genetic effects with simple additive models, but influenced QTL mapping accuracy in the additive and epistatic models. The optimum marker density was approximately 20 markers when the recombination fraction between two adjacent markers was 0.056 in the additive and epistatic models. A sample size of 150 was sufficient for detecting simple additive QTLs. Thus, a sample size of approximately 450 is needed to detect QTLs with additive and epistatic models. Sample size must be approximately 750 to detect QTLs with additive, epistatic, and combined effects between QTLs. The sample size should be increased to >750 if the genetic models of the data set become more complicated than Model III. Our results provide a theoretical basis for marker-assisted selection breeding and molecular design breeding.

  7. Association analysis of historical bread wheat germplasm using additive genetic covariance of relatives and population structure.

    PubMed

    Crossa, José; Burgueño, Juan; Dreisigacker, Susanne; Vargas, Mateo; Herrera-Foessel, Sybil A; Lillemo, Morten; Singh, Ravi P; Trethowan, Richard; Warburton, Marilyn; Franco, Jorge; Reynolds, Matthew; Crouch, Jonathan H; Ortiz, Rodomiro

    2007-11-01

    Linkage disequilibrium can be used for identifying associations between traits of interest and genetic markers. This study used mapped diversity array technology (DArT) markers to find associations with resistance to stem rust, leaf rust, yellow rust, and powdery mildew, plus grain yield in five historical wheat international multienvironment trials from the International Maize and Wheat Improvement Center (CIMMYT). Two linear mixed models were used to assess marker-trait associations incorporating information on population structure and covariance between relatives. An integrated map containing 813 DArT markers and 831 other markers was constructed. Several linkage disequilibrium clusters bearing multiple host plant resistance genes were found. Most of the associated markers were found in genomic regions where previous reports had found genes or quantitative trait loci (QTL) influencing the same traits, providing an independent validation of this approach. In addition, many new chromosome regions for disease resistance and grain yield were identified in the wheat genome. Phenotyping across up to 60 environments and years allowed modeling of genotype x environment interaction, thereby making possible the identification of markers contributing to both additive and additive x additive interaction effects of traits.

  8. Genetic influences on thinning of the cerebral cortex during development.

    PubMed

    van Soelen, I L C; Brouwer, R M; van Baal, G C M; Schnack, H G; Peper, J S; Collins, D L; Evans, A C; Kahn, R S; Boomsma, D I; Hulshoff Pol, H E

    2012-02-15

    During development from childhood to adulthood the human brain undergoes considerable thinning of the cerebral cortex. Whether developmental cortical thinning is influenced by genes and if independent genetic factors influence different parts of the cortex is not known. Magnetic resonance brain imaging was done in twins at age 9 (N = 190) and again at age 12 (N = 125; 113 repeated measures) to assess genetic influences on changes in cortical thinning. We find considerable thinning of the cortex between over this three year interval (on average 0.05 mm; 1.5%), particularly in the frontal poles, and orbitofrontal, paracentral, and occipital cortices. Cortical thinning was highly heritable at age 9 and age 12, and the degree of genetic influence differed for the various areas of the brain. One genetic factor affected left inferior frontal (Broca's area), and left parietal (Wernicke's area) thinning; a second factor influenced left anterior paracentral (sensory-motor) thinning. Two factors influenced cortical thinning in the frontal poles: one of decreasing influence over time, and another independent genetic factor emerging at age 12 in left and right frontal poles. Thus, thinning of the cerebral cortex is heritable in children between the ages 9 and 12. Furthermore, different genetic factors are responsible for variation in cortical thickness at ages 9 and 12, with independent genetic factors acting on cortical thickness across time and between various brain areas during childhood brain development.

  9. Additive and non-additive genetic components of the jack male life history in Chinook salmon (Oncorhynchus tshawytscha).

    PubMed

    Forest, Adriana R; Semeniuk, Christina A D; Heath, Daniel D; Pitcher, Trevor E

    2016-08-01

    Chinook salmon, Oncorhynchus tshawytscha, exhibit alternative reproductive tactics (ARTs) where males exist in two phenotypes: large "hooknose" males and smaller "jacks" that reach sexual maturity after only 1 year in seawater. The mechanisms that determine "jacking rate"-the rate at which males precociously sexually mature-are known to involve both genetics and differential growth rates, where individuals that become jacks exhibit higher growth earlier in life. The additive genetic components have been studied and it is known that jack sires produce significantly more jack offspring than hooknose sires, and vice versa. The current study was the first to investigate both additive and non-additive genetic components underlying jacking through the use of a full-factorial breeding design using all hooknose sires. The effect of dams and sires descendant from a marker-assisted broodstock program that identified "high performance" and "low performance" lines using growth- and survival-related gene markers was also studied. Finally, the relative growth of jack, hooknose, and female offspring was examined. No significant dam, sire, or interaction effects were observed in this study, and the maternal, additive, and non-additive components underlying jacking were small. Differences in jacking rates in this study were determined by dam performance line, where dams that originated from the low performance line produced significantly more jacks. Jack offspring in this study had a significantly larger body size than both hooknose males and females starting 1 year post-fertilization. This study provides novel information regarding the genetic architecture underlying ARTs in Chinook salmon that could have implications for the aquaculture industry, where jacks are not favoured due to their small body size and poor flesh quality.

  10. Influence of nano-dispersive modified additive on cement activity

    SciTech Connect

    Sazonova, Natalya Badenikov, Artem Ivanova, Elizaveta; Skripnikova, Nelli

    2016-01-15

    In the work the influence of single-walled carbon nanotubes (SWCNT) on the cement activity and the processes of structure formation of the hardened cement paste in different periods of hydration are studied. The changes in the kinetic curves of the sample strength growth modified with SWCNT in amount of 0.01 and 0.0005 % are stipulated by the results of differential scanning colorimetry, scanning electronic and ionic microscopy, X-ray-phase analysis. It was found that the nano-modified additive may increase in the axis compressive strength of the system by 1.4–6.3 fold relatively to the reference samples and may reach 179.6 MPa. It may intensify the hydration process of calcium silicates as well as influence on the matrix of hardened cement paste. The studies are conducted on the structural changes in the hardened cement paste, the time periods of increase and decrease of the compressive strength of the samples, the amount of the calcium hydroxide and tobermorite-like gel as well as the degree of hydration C{sub 3}S and β-C{sub 2}S.

  11. The Evolution of Human Intelligence and the Coefficient of Additive Genetic Variance in Human Brain Size

    ERIC Educational Resources Information Center

    Miller, Geoffrey F.; Penke, Lars

    2007-01-01

    Most theories of human mental evolution assume that selection favored higher intelligence and larger brains, which should have reduced genetic variance in both. However, adult human intelligence remains highly heritable, and is genetically correlated with brain size. This conflict might be resolved by estimating the coefficient of additive genetic…

  12. Ontogeny of additive and maternal genetic effects: lessons from domestic mammals.

    PubMed

    Wilson, Alastair J; Reale, Denis

    2006-01-01

    Evolution of size and growth depends on heritable variation arising from additive and maternal genetic effects. Levels of heritable (and nonheritable) variation might change over ontogeny, increasing through "variance compounding" or decreasing through "compensatory growth." We test for these processes using a meta-analysis of age-specific weight traits in domestic ungulates. Generally, mean standardized variance components decrease with age, consistent with compensatory growth. Phenotypic convergence among adult sheep occurs through decreasing environmental and maternal genetic variation. Maternal variation similarly declines in cattle. Maternal genetic effects are thus reduced with age (both in absolute and relative terms). Significant trends in heritability (decreasing in cattle, increasing in sheep) result from declining maternal and environmental components rather than from changing additive variation. There was no evidence for increasing standardized variance components. Any compounding must therefore be masked by more important compensatory processes. While extrapolation of these patterns to processes in natural population is difficult, our results highlight the inadequacy of assuming constancy in genetic parameters over ontogeny. Negative covariance between direct and maternal genetic effects was common. Negative correlations with additive and maternal genetic variances indicate that antagonistic pleiotropy (between additive and maternal genetic effects) may maintain genetic variance and limit responses to selection.

  13. Genetic Influences on the Organization and Development of Personality

    ERIC Educational Resources Information Center

    Dworkin, Robert H.; And Others

    1977-01-01

    Data from a longitudinal twin study of personality were analyzed for genetic influences utilizing scores from the Minnesota Multiphasic Personality Inventory and the California Psychological Inventory. (Author/JMB)

  14. Social and Genetic Influences on Adolescent Religious Attitudes and Practices

    ERIC Educational Resources Information Center

    Eaves, Lindon J.; Hatemi, Peter K.; Prom-Womley, Elizabeth C.; Murrelle, Lenn

    2008-01-01

    The authors explore the contributions of social and genetic influences to religious attitudes and practices in a population-based sample of 11-18 year olds and their mothers who responded to a Religious Attitudes and Practices Inventory and Religious Rearing Practices Inventory respectively. Contrary to genetic studies examining adult religious…

  15. Genetic and Environmental Influences on Vocabulary and Reading Development

    ERIC Educational Resources Information Center

    Olson, Richard K.; Keenan, Janice M.; Byrne, Brian; Samuelsson, Stefan; Coventry, William L.; Corley, Robin; Wadsworth, Sally J.; Willcutt, Erik G.; DeFries, John C.; Pennington, Bruce F.; Hulslander, Jacqueline

    2011-01-01

    Genetic and environmental relations between vocabulary and reading skills were explored longitudinally from preschool through Grades 2 and 4. At preschool there were strong shared-environment and weak genetic influences on both vocabulary and print knowledge but substantial differences in their source. Separation of etiology for vocabulary and…

  16. Accounting for additive genetic mutations on litter size in Ripollesa sheep.

    PubMed

    Casellas, J; Caja, G; Piedrafita, J

    2010-04-01

    Little is known about mutational variability in livestock, among which only a few mutations with relatively large effects have been reported. In this manuscript, mutational variability was analyzed in 1,765 litter size records from 404 Ripollesa ewes to characterize the magnitude of this genetic source of variation and check the suitability of including mutational effects in genetic evaluations of this breed. Threshold animal models accounting for additive genetic mutations were preferred to models without mutational contributions, with an average difference in the deviance information criterion of more than 5 units. Moreover, the statistical relevance of the additive genetic mutation term was checked through a Bayes factor approach, which showed that the models with mutational variability were 8.5 to 22.7 times more probable than the others. The mutational heritability (percentage of the phenotypic variance accounted for by mutational variance) was 0.6 or 0.9%, depending on whether genetic dominance effects were accounted for by the analytical model. The inclusion of mutational effects in the genetic model for evaluating litter size in Ripollesa ewes called for some minor modifications in the genetic merit order of the individuals evaluated, which suggested that the continuous uploading of new additive mutations could be taken into account to optimize the selection scheme. This study is the first attempt to estimate mutational variances in a livestock species and thereby contribute to better characterization of the genetic background of productive traits of interest.

  17. An imaging genetics approach to understanding social influence

    PubMed Central

    Falk, Emily B.; Way, Baldwin M.; Jasinska, Agnes J.

    2012-01-01

    Normative social influences shape nearly every aspect of our lives, yet the biological processes mediating the impact of these social influences on behavior remain incompletely understood. In this Hypothesis, we outline a theoretical framework and an integrative research approach to the study of social influences on the brain and genetic moderators of such effects. First, we review neuroimaging evidence linking social influence and conformity to the brain's reward system. We next review neuroimaging evidence linking social punishment (exclusion) to brain systems involved in the experience of pain, as well as evidence linking exclusion to conformity. We suggest that genetic variants that increase sensitivity to social cues may predispose individuals to be more sensitive to either social rewards or punishments (or potentially both), which in turn increases conformity and susceptibility to normative social influences more broadly. To this end, we review evidence for genetic moderators of neurochemical responses in the brain, and suggest ways in which genes and pharmacology may modulate sensitivity to social influences. We conclude by proposing an integrative imaging genetics approach to the study of brain mediators and genetic modulators of a variety of social influences on human attitudes, beliefs, and actions. PMID:22701416

  18. Genome-Enabled Estimates of Additive and Nonadditive Genetic Variances and Prediction of Apple Phenotypes Across Environments

    PubMed Central

    Kumar, Satish; Molloy, Claire; Muñoz, Patricio; Daetwyler, Hans; Chagné, David; Volz, Richard

    2015-01-01

    The nonadditive genetic effects may have an important contribution to total genetic variation of phenotypes, so estimates of both the additive and nonadditive effects are desirable for breeding and selection purposes. Our main objectives were to: estimate additive, dominance and epistatic variances of apple (Malus × domestica Borkh.) phenotypes using relationship matrices constructed from genome-wide dense single nucleotide polymorphism (SNP) markers; and compare the accuracy of genomic predictions using genomic best linear unbiased prediction models with or without including nonadditive genetic effects. A set of 247 clonally replicated individuals was assessed for six fruit quality traits at two sites, and also genotyped using an Illumina 8K SNP array. Across several fruit quality traits, the additive, dominance, and epistatic effects contributed about 30%, 16%, and 19%, respectively, to the total phenotypic variance. Models ignoring nonadditive components yielded upwardly biased estimates of additive variance (heritability) for all traits in this study. The accuracy of genomic predicted genetic values (GEGV) varied from about 0.15 to 0.35 for various traits, and these were almost identical for models with or without including nonadditive effects. However, models including nonadditive genetic effects further reduced the bias of GEGV. Between-site genotypic correlations were high (>0.85) for all traits, and genotype-site interaction accounted for <10% of the phenotypic variability. The accuracy of prediction, when the validation set was present only at one site, was generally similar for both sites, and varied from about 0.50 to 0.85. The prediction accuracies were strongly influenced by trait heritability, and genetic relatedness between the training and validation families. PMID:26497141

  19. Estimation of Additive, Dominance, and Imprinting Genetic Variance Using Genomic Data

    PubMed Central

    Lopes, Marcos S.; Bastiaansen, John W. M.; Janss, Luc; Knol, Egbert F.; Bovenhuis, Henk

    2015-01-01

    Traditionally, exploration of genetic variance in humans, plants, and livestock species has been limited mostly to the use of additive effects estimated using pedigree data. However, with the development of dense panels of single-nucleotide polymorphisms (SNPs), the exploration of genetic variation of complex traits is moving from quantifying the resemblance between family members to the dissection of genetic variation at individual loci. With SNPs, we were able to quantify the contribution of additive, dominance, and imprinting variance to the total genetic variance by using a SNP regression method. The method was validated in simulated data and applied to three traits (number of teats, backfat, and lifetime daily gain) in three purebred pig populations. In simulated data, the estimates of additive, dominance, and imprinting variance were very close to the simulated values. In real data, dominance effects account for a substantial proportion of the total genetic variance (up to 44%) for these traits in these populations. The contribution of imprinting to the total phenotypic variance of the evaluated traits was relatively small (1–3%). Our results indicate a strong relationship between additive variance explained per chromosome and chromosome length, which has been described previously for other traits in other species. We also show that a similar linear relationship exists for dominance and imprinting variance. These novel results improve our understanding of the genetic architecture of the evaluated traits and shows promise to apply the SNP regression method to other traits and species, including human diseases. PMID:26438289

  20. Genetic algorithm-guided discovery of additive combinations that direct quantum dot assembly.

    PubMed

    Bawazer, Lukmaan A; Ihli, Johannes; Comyn, Timothy P; Critchley, Kevin; Empson, Christopher J; Meldrum, Fiona C

    2015-01-14

    The use of combinations of organic additives to control crystallization, as occurs in biomineralization, is rarely investigated due to the vast potential reaction space. It is demonstrated here that combinatorial approaches led by genetic algorithm heuristics can enable identification of active additive combinations, and four key organic molecules are rapidly identified, which generate highly fluorescent CdS quantum dot superstructures.

  1. Genetic Influences on Preterm Birth in Argentina

    PubMed Central

    Mann, Paul C.; Cooper, Margaret E.; Ryckman, Kelli K.; Comas, Belén; Gili, Juan; Crumley, Suzanne; Bream, Elise N.A.; Byers, Heather M.; Piester, Travis; Schaefer, Amanda; Christine, Paul J.; Lawrence, Amy; Schaa, Kendra L.; Kelsey, Keegan J.P.; Berends, Susan K.; Gadow, Enrique; Cosentino, Viviana; Castilla, Eduardo E.; Camelo, Jorge López; Saleme, Cesar; Day, Lori J.; England, Sarah K.; Marazita, Mary L.; Dagle, John M.; Murray, Jeffrey C.

    2013-01-01

    Objective To investigate genetic etiologies of preterm birth (PTB) in Argentina through evaluation of single-nucleotide polymorphisms (SNP) in candidate genes and population genetic admixture. Study Design Genotyping was performed in 389 families. Maternal, paternal, and fetal effects were studied separately. Mitochondrial DNA (mtDNA) was sequenced in 50 males and 50 females. Y-chromosome anthropological markers were evaluated in 50 males. Results Fetal association with PTB was found in the progesterone receptor (PGR, rs1942836; p= 0.004). Maternal association with PTB was found in small conductance calcium activated potassium channel isoform 3 (KCNN3, rs883319; p= 0.01). Gestational age associated with PTB in PGR rs1942836 at 32 –36 weeks (p= 0.0004). MtDNA sequencing determined 88 individuals had Amerindian consistent haplogroups. Two individuals had Amerindian Y-chromosome consistent haplotypes. Conclusions This study replicates single locus fetal associations with PTB in PGR, maternal association in KCNN3, and demonstrates possible effects for divergent racial admixture on PTB. PMID:23018797

  2. Reading development in young children: genetic and environmental influences.

    PubMed

    Logan, Jessica A R; Hart, Sara A; Cutting, Laurie; Deater-Deckard, Kirby; Schatschneider, Chris; Petrill, Stephen

    2013-01-01

    The development of reading skills in typical students is commonly described as a rapid growth across early grades of active reading education, with a slowing down of growth as active instruction tapers. This study examined the extent to which genetics and environments influence these growth rates. Participants were 371 twin pairs, aged approximately 6 through 12, from the Western Reserve Reading Project. Development of word-level reading, reading comprehension, and rapid naming was examined using genetically sensitive latent quadratic growth curve modeling. Results confirmed the developmental trajectory described in the phenotypic literature. Furthermore, the same shared environmental influences were related to early reading skills and subsequent growth, but genetic influences on these factors were unique.

  3. Behaviors of Polymer Additives Under EHL and Influences of Interactions Between Additives on Friction Modification

    NASA Technical Reports Server (NTRS)

    Sakurai, T.

    1984-01-01

    Polymer additives have become requisite for the formulation of multigrade engine oils. The behavior of polymethacrylate (PMA)-thickened oils as lubricants in concentrated contacts under nominal rolling and pure sliding conditions was investigated by conventional optical interferometry. The PMA thickened oils behaved differently from the base oil in the formation of elastohydrodynamic (EHL) films. The higher the elastohydrodynamic molecular weight of the PMA contained in the lubricant, the thinner was the oil film under EHL conditions. The film thickness of shear-degraded PMA-thickened oils was also investigated. The behavior of graphite particles dispersed in both the base oil and the PMA-thickened oil was studied under pure sliding by taking photomicrographs. Many kinds of additives are contained in lubricating oil and the interactions between additives are considered. The interactions of zinc-organodithiophosphates (ZDP) with other additives is discussed.

  4. Comparing GWAS Results of Complex Traits Using Full Genetic Model and Additive Models for Revealing Genetic Architecture

    PubMed Central

    Monir, Md. Mamun; Zhu, Jun

    2017-01-01

    Most of the genome-wide association studies (GWASs) for human complex diseases have ignored dominance, epistasis and ethnic interactions. We conducted comparative GWASs for total cholesterol using full model and additive models, which illustrate the impacts of the ignoring genetic variants on analysis results and demonstrate how genetic effects of multiple loci could differ across different ethnic groups. There were 15 quantitative trait loci with 13 individual loci and 3 pairs of epistasis loci identified by full model, whereas only 14 loci (9 common loci and 5 different loci) identified by multi-loci additive model. Again, 4 full model detected loci were not detected using multi-loci additive model. PLINK-analysis identified two loci and GCTA-analysis detected only one locus with genome-wide significance. Full model identified three previously reported genes as well as several new genes. Bioinformatics analysis showed some new genes are related with cholesterol related chemicals and/or diseases. Analyses of cholesterol data and simulation studies revealed that the full model performs were better than the additive-model performs in terms of detecting power and unbiased estimations of genetic variants of complex traits. PMID:28079101

  5. Additives

    NASA Technical Reports Server (NTRS)

    Smalheer, C. V.

    1973-01-01

    The chemistry of lubricant additives is discussed to show what the additives are chemically and what functions they perform in the lubrication of various kinds of equipment. Current theories regarding the mode of action of lubricant additives are presented. The additive groups discussed include the following: (1) detergents and dispersants, (2) corrosion inhibitors, (3) antioxidants, (4) viscosity index improvers, (5) pour point depressants, and (6) antifouling agents.

  6. Common genetic variants influence human subcortical brain structures.

    PubMed

    Hibar, Derrek P; Stein, Jason L; Renteria, Miguel E; Arias-Vasquez, Alejandro; Desrivières, Sylvane; Jahanshad, Neda; Toro, Roberto; Wittfeld, Katharina; Abramovic, Lucija; Andersson, Micael; Aribisala, Benjamin S; Armstrong, Nicola J; Bernard, Manon; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brown, Andrew A; Chakravarty, M Mallar; Chen, Qiang; Ching, Christopher R K; Cuellar-Partida, Gabriel; den Braber, Anouk; Giddaluru, Sudheer; Goldman, Aaron L; Grimm, Oliver; Guadalupe, Tulio; Hass, Johanna; Woldehawariat, Girma; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Olde Loohuis, Loes M; Luciano, Michelle; Macare, Christine; Mather, Karen A; Mattheisen, Manuel; Milaneschi, Yuri; Nho, Kwangsik; Papmeyer, Martina; Ramasamy, Adaikalavan; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rose, Emma J; Salami, Alireza; Sämann, Philipp G; Schmaal, Lianne; Schork, Andrew J; Shin, Jean; Strike, Lachlan T; Teumer, Alexander; van Donkelaar, Marjolein M J; van Eijk, Kristel R; Walters, Raymond K; Westlye, Lars T; Whelan, Christopher D; Winkler, Anderson M; Zwiers, Marcel P; Alhusaini, Saud; Athanasiu, Lavinia; Ehrlich, Stefan; Hakobjan, Marina M H; Hartberg, Cecilie B; Haukvik, Unn K; Heister, Angelien J G A M; Hoehn, David; Kasperaviciute, Dalia; Liewald, David C M; Lopez, Lorna M; Makkinje, Remco R R; Matarin, Mar; Naber, Marlies A M; McKay, D Reese; Needham, Margaret; Nugent, Allison C; Pütz, Benno; Royle, Natalie A; Shen, Li; Sprooten, Emma; Trabzuni, Daniah; van der Marel, Saskia S L; van Hulzen, Kimm J E; Walton, Esther; Wolf, Christiane; Almasy, Laura; Ames, David; Arepalli, Sampath; Assareh, Amelia A; Bastin, Mark E; Brodaty, Henry; Bulayeva, Kazima B; Carless, Melanie A; Cichon, Sven; Corvin, Aiden; Curran, Joanne E; Czisch, Michael; de Zubicaray, Greig I; Dillman, Allissa; Duggirala, Ravi; Dyer, Thomas D; Erk, Susanne; Fedko, Iryna O; Ferrucci, Luigi; Foroud, Tatiana M; Fox, Peter T; Fukunaga, Masaki; Gibbs, J Raphael; Göring, Harald H H; Green, Robert C; Guelfi, Sebastian; Hansell, Narelle K; Hartman, Catharina A; Hegenscheid, Katrin; Heinz, Andreas; Hernandez, Dena G; Heslenfeld, Dirk J; Hoekstra, Pieter J; Holsboer, Florian; Homuth, Georg; Hottenga, Jouke-Jan; Ikeda, Masashi; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Kanai, Ryota; Keil, Maria; Kent, Jack W; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Liu, Xinmin; Longo, Dan L; McMahon, Katie L; Meisenzahl, Eva; Melle, Ingrid; Mohnke, Sebastian; Montgomery, Grant W; Mostert, Jeanette C; Mühleisen, Thomas W; Nalls, Michael A; Nichols, Thomas E; Nilsson, Lars G; Nöthen, Markus M; Ohi, Kazutaka; Olvera, Rene L; Perez-Iglesias, Rocio; Pike, G Bruce; Potkin, Steven G; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D; Rujescu, Dan; Schnell, Knut; Schofield, Peter R; Smith, Colin; Steen, Vidar M; Sussmann, Jessika E; Thalamuthu, Anbupalam; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Turner, Jessica A; Valdés Hernández, Maria C; van 't Ent, Dennis; van der Brug, Marcel; van der Wee, Nic J A; van Tol, Marie-Jose; Veltman, Dick J; Wassink, Thomas H; Westman, Eric; Zielke, Ronald H; Zonderman, Alan B; Ashbrook, David G; Hager, Reinmar; Lu, Lu; McMahon, Francis J; Morris, Derek W; Williams, Robert W; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Cahn, Wiepke; Calhoun, Vince D; Cavalleri, Gianpiero L; Crespo-Facorro, Benedicto; Dale, Anders M; Davies, Gareth E; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C; Espeseth, Thomas; Gollub, Randy L; Ho, Beng-Choon; Hoffmann, Wolfgang; Hosten, Norbert; Kahn, René S; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Müller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W J H; Roffman, Joshua L; Sisodiya, Sanjay M; Smoller, Jordan W; van Bokhoven, Hans; van Haren, Neeltje E M; Völzke, Henry; Walter, Henrik; Weiner, Michael W; Wen, Wei; White, Tonya; Agartz, Ingrid; Andreassen, Ole A; Blangero, John; Boomsma, Dorret I; Brouwer, Rachel M; Cannon, Dara M; Cookson, Mark R; de Geus, Eco J C; Deary, Ian J; Donohoe, Gary; Fernández, Guillén; Fisher, Simon E; Francks, Clyde; Glahn, David C; Grabe, Hans J; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Hulshoff Pol, Hilleke E; Jönsson, Erik G; Kloszewska, Iwona; Lovestone, Simon; Mattay, Venkata S; Mecocci, Patrizia; McDonald, Colm; McIntosh, Andrew M; Ophoff, Roel A; Paus, Tomas; Pausova, Zdenka; Ryten, Mina; Sachdev, Perminder S; Saykin, Andrew J; Simmons, Andy; Singleton, Andrew; Soininen, Hilkka; Wardlaw, Joanna M; Weale, Michael E; Weinberger, Daniel R; Adams, Hieab H H; Launer, Lenore J; Seiler, Stephan; Schmidt, Reinhold; Chauhan, Ganesh; Satizabal, Claudia L; Becker, James T; Yanek, Lisa; van der Lee, Sven J; Ebling, Maritza; Fischl, Bruce; Longstreth, W T; Greve, Douglas; Schmidt, Helena; Nyquist, Paul; Vinke, Louis N; van Duijn, Cornelia M; Xue, Luting; Mazoyer, Bernard; Bis, Joshua C; Gudnason, Vilmundur; Seshadri, Sudha; Ikram, M Arfan; Martin, Nicholas G; Wright, Margaret J; Schumann, Gunter; Franke, Barbara; Thompson, Paul M; Medland, Sarah E

    2015-04-09

    The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.

  7. Common genetic variants influence human subcortical brain structures

    PubMed Central

    Hibar, Derrek P.; Stein, Jason L.; Renteria, Miguel E.; Arias-Vasquez, Alejandro; Desrivières, Sylvane; Jahanshad, Neda; Toro, Roberto; Wittfeld, Katharina; Abramovic, Lucija; Andersson, Micael; Aribisala, Benjamin S.; Armstrong, Nicola J.; Bernard, Manon; Bohlken, Marc M.; Boks, Marco P.; Bralten, Janita; Brown, Andrew A.; Chakravarty, M. Mallar; Chen, Qiang; Ching, Christopher R. K.; Cuellar-Partida, Gabriel; den Braber, Anouk; Giddaluru, Sudheer; Goldman, Aaron L.; Grimm, Oliver; Guadalupe, Tulio; Hass, Johanna; Woldehawariat, Girma; Holmes, Avram J.; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H.; Olde Loohuis, Loes M.; Luciano, Michelle; Macare, Christine; Mather, Karen A.; Mattheisen, Manuel; Milaneschi, Yuri; Nho, Kwangsik; Papmeyer, Martina; Ramasamy, Adaikalavan; Risacher, Shannon L.; Roiz-Santiañez, Roberto; Rose, Emma J.; Salami, Alireza; Sämann, Philipp G.; Schmaal, Lianne; Schork, Andrew J.; Shin, Jean; Strike, Lachlan T.; Teumer, Alexander; van Donkelaar, Marjolein M. J.; van Eijk, Kristel R.; Walters, Raymond K.; Westlye, Lars T.; Whelan, Christopher D.; Winkler, Anderson M.; Zwiers, Marcel P.; Alhusaini, Saud; Athanasiu, Lavinia; Ehrlich, Stefan; Hakobjan, Marina M. H.; Hartberg, Cecilie B.; Haukvik, Unn K.; Heister, Angelien J. G. A. M.; Hoehn, David; Kasperaviciute, Dalia; Liewald, David C. M.; Lopez, Lorna M.; Makkinje, Remco R. R.; Matarin, Mar; Naber, Marlies A. M.; McKay, D. Reese; Needham, Margaret; Nugent, Allison C.; Pütz, Benno; Royle, Natalie A.; Shen, Li; Sprooten, Emma; Trabzuni, Daniah; van der Marel, Saskia S. L.; van Hulzen, Kimm J. E.; Walton, Esther; Wolf, Christiane; Almasy, Laura; Ames, David; Arepalli, Sampath; Assareh, Amelia A.; Bastin, Mark E.; Brodaty, Henry; Bulayeva, Kazima B.; Carless, Melanie A.; Cichon, Sven; Corvin, Aiden; Curran, Joanne E.; Czisch, Michael; de Zubicaray, Greig I.; Dillman, Allissa; Duggirala, Ravi; Dyer, Thomas D.; Erk, Susanne; Fedko, Iryna O.; Ferrucci, Luigi; Foroud, Tatiana M.; Fox, Peter T.; Fukunaga, Masaki; Gibbs, J. Raphael; Göring, Harald H. H.; Green, Robert C.; Guelfi, Sebastian; Hansell, Narelle K.; Hartman, Catharina A.; Hegenscheid, Katrin; Heinz, Andreas; Hernandez, Dena G.; Heslenfeld, Dirk J.; Hoekstra, Pieter J.; Holsboer, Florian; Homuth, Georg; Hottenga, Jouke-Jan; Ikeda, Masashi; Jack, Clifford R.; Jenkinson, Mark; Johnson, Robert; Kanai, Ryota; Keil, Maria; Kent, Jack W.; Kochunov, Peter; Kwok, John B.; Lawrie, Stephen M.; Liu, Xinmin; Longo, Dan L.; McMahon, Katie L.; Meisenzahl, Eva; Melle, Ingrid; Mohnke, Sebastian; Montgomery, Grant W.; Mostert, Jeanette C.; Mühleisen, Thomas W.; Nalls, Michael A.; Nichols, Thomas E.; Nilsson, Lars G.; Nöthen, Markus M.; Ohi, Kazutaka; Olvera, Rene L.; Perez-Iglesias, Rocio; Pike, G. Bruce; Potkin, Steven G.; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D.; Rujescu, Dan; Schnell, Knut; Schofield, Peter R.; Smith, Colin; Steen, Vidar M.; Sussmann, Jessika E.; Thalamuthu, Anbupalam; Toga, Arthur W.; Traynor, Bryan J.; Troncoso, Juan; Turner, Jessica A.; Valdés Hernández, Maria C.; van ’t Ent, Dennis; van der Brug, Marcel; van der Wee, Nic J. A.; van Tol, Marie-Jose; Veltman, Dick J.; Wassink, Thomas H.; Westman, Eric; Zielke, Ronald H.; Zonderman, Alan B.; Ashbrook, David G.; Hager, Reinmar; Lu, Lu; McMahon, Francis J.; Morris, Derek W.; Williams, Robert W.; Brunner, Han G.; Buckner, Randy L.; Buitelaar, Jan K.; Cahn, Wiepke; Calhoun, Vince D.; Cavalleri, Gianpiero L.; Crespo-Facorro, Benedicto; Dale, Anders M.; Davies, Gareth E.; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C.; Espeseth, Thomas; Gollub, Randy L.; Ho, Beng-Choon; Hoffmann, Wolfgang; Hosten, Norbert; Kahn, René S.; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Müller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W. J. H.; Roffman, Joshua L.; Sisodiya, Sanjay M.; Smoller, Jordan W.; van Bokhoven, Hans; van Haren, Neeltje E. M.; Völzke, Henry; Walter, Henrik; Weiner, Michael W.; Wen, Wei; White, Tonya; Agartz, Ingrid; Andreassen, Ole A.; Blangero, John; Boomsma, Dorret I.; Brouwer, Rachel M.; Cannon, Dara M.; Cookson, Mark R.; de Geus, Eco J. C.; Deary, Ian J.; Donohoe, Gary; Fernández, Guillén; Fisher, Simon E.; Francks, Clyde; Glahn, David C.; Grabe, Hans J.; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Hulshoff Pol, Hilleke E.; Jönsson, Erik G.

    2015-01-01

    The highly complex structure of the human brain is strongly shaped by genetic influences1. Subcortical brain regions form circuits with cortical areas to coordinate movement2, learning, memory3 and motivation4, and altered circuits can lead to abnormal behaviour and disease2. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume5 and intracranial volume6. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10−33; 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability inhuman brain development, and may help to determine mechanisms of neuropsychiatric dysfunction. PMID:25607358

  8. Product versus additive threshold models for analysis of reproduction outcomes in animal genetics.

    PubMed

    David, I; Bodin, L; Gianola, D; Legarra, A; Manfredi, E; Robert-Granié, C

    2009-08-01

    The phenotypic observation of some reproduction traits (e.g., insemination success, interval from lambing to insemination) is the result of environmental and genetic factors acting on 2 individuals: the male and female involved in a mating couple. In animal genetics, the main approach (called additive model) proposed for studying such traits assumes that the phenotype is linked to a purely additive combination, either on the observed scale for continuous traits or on some underlying scale for discrete traits, of environmental and genetic effects affecting the 2 individuals. Statistical models proposed for studying human fecundability generally consider reproduction outcomes as the product of hypothetical unobservable variables. Taking inspiration from these works, we propose a model (product threshold model) for studying a binary reproduction trait that supposes that the observed phenotype is the product of 2 unobserved phenotypes, 1 for each individual. We developed a Gibbs sampling algorithm for fitting a Bayesian product threshold model including additive genetic effects and showed by simulation that it is feasible and that it provides good estimates of the parameters. We showed that fitting an additive threshold model to data that are simulated under a product threshold model provides biased estimates, especially for individuals with high breeding values. A main advantage of the product threshold model is that, in contrast to the additive model, it provides distinct estimates of fixed effects affecting each of the 2 unobserved phenotypes.

  9. Common genetic variants, acting additively, are a major source of risk for autism

    PubMed Central

    2012-01-01

    Background Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals. Methods By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status. Results By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating. Conclusions Our results, when viewed in the context of results from genome

  10. Do Health Professionals Need Additional Competencies for Stratified Cancer Prevention Based on Genetic Risk Profiling?

    PubMed Central

    Chowdhury, Susmita; Henneman, Lidewij; Dent, Tom; Hall, Alison; Burton, Alice; Pharoah, Paul; Pashayan, Nora; Burton, Hilary

    2015-01-01

    There is growing evidence that inclusion of genetic information about known common susceptibility variants may enable population risk-stratification and personalized prevention for common diseases including cancer. This would require the inclusion of genetic testing as an integral part of individual risk assessment of an asymptomatic individual. Front line health professionals would be expected to interact with and assist asymptomatic individuals through the risk stratification process. In that case, additional knowledge and skills may be needed. Current guidelines and frameworks for genetic competencies of non-specialist health professionals place an emphasis on rare inherited genetic diseases. For common diseases, health professionals do use risk assessment tools but such tools currently do not assess genetic susceptibility of individuals. In this article, we compare the skills and knowledge needed by non-genetic health professionals, if risk-stratified prevention is implemented, with existing competence recommendations from the UK, USA and Europe, in order to assess the gaps in current competences. We found that health professionals would benefit from understanding the contribution of common genetic variations in disease risk, the rationale for a risk-stratified prevention pathway, and the implications of using genomic information in risk-assessment and risk management of asymptomatic individuals for common disease prevention. PMID:26068647

  11. Do Health Professionals Need Additional Competencies for Stratified Cancer Prevention Based on Genetic Risk Profiling?

    PubMed

    Chowdhury, Susmita; Henneman, Lidewij; Dent, Tom; Hall, Alison; Burton, Alice; Pharoah, Paul; Pashayan, Nora; Burton, Hilary

    2015-06-09

    There is growing evidence that inclusion of genetic information about known common susceptibility variants may enable population risk-stratification and personalized prevention for common diseases including cancer. This would require the inclusion of genetic testing as an integral part of individual risk assessment of an asymptomatic individual. Front line health professionals would be expected to interact with and assist asymptomatic individuals through the risk stratification process. In that case, additional knowledge and skills may be needed. Current guidelines and frameworks for genetic competencies of non-specialist health professionals place an emphasis on rare inherited genetic diseases. For common diseases, health professionals do use risk assessment tools but such tools currently do not assess genetic susceptibility of individuals. In this article, we compare the skills and knowledge needed by non-genetic health professionals, if risk-stratified prevention is implemented, with existing competence recommendations from the UK, USA and Europe, in order to assess the gaps in current competences. We found that health professionals would benefit from understanding the contribution of common genetic variations in disease risk, the rationale for a risk-stratified prevention pathway, and the implications of using genomic information in risk-assessment and risk management of asymptomatic individuals for common disease prevention.

  12. Influence of boric acid additive size on green lubricant performance.

    PubMed

    Lovell, Michael R; Kabir, M A; Menezes, Pradeep L; Higgs, C Fred

    2010-10-28

    As the industrial community moves towards green manufacturing processes, there is an increased demand for multi-functional, environmentally friendly lubricants with enhanced tribological performance. In the present investigation, green (environmentally benign) lubricant combinations were prepared by homogeneously mixing nano- (20 nm), sub-micrometre- (600 nm average size) and micrometre-scale (4 μm average size) boric acid powder additives with canola oil in a vortex generator. As a basis for comparison, lubricants of base canola oil and canola oil mixed with MoS(2) powder (ranging from 0.5 to 10 μm) were also prepared. Friction and wear experiments were carried out on the prepared lubricants using a pin-on-disc apparatus under ambient conditions. Based on the experiments, the nanoscale (20 nm) particle boric acid additive lubricants significantly outperformed all of the other lubricants with respect to frictional and wear performance. In fact, the nanoscale boric acid powder-based lubricants exhibited a wear rate more than an order of magnitude lower than the MoS(2) and larger sized boric acid additive-based lubricants. It was also discovered that the oil mixed with a combination of sub-micrometre- and micrometre-scale boric acid powder additives exhibited better friction and wear performance than the canola oil mixed with sub-micrometre- or micrometre-scale boric acid additives alone.

  13. Measurement and Associations of Pregnancy Risk Factors with Genetic Influences, Postnatal Environmental Influences, and Toddler Behavior

    ERIC Educational Resources Information Center

    Marceau, Kristine; Hajal, Nastassia; Leve, Leslie D.; Reiss, David; Shaw, Daniel S.; Ganiban, Jody M.; Mayes, Linda C.; Neiderhiser, Jenae M.

    2013-01-01

    This study demonstrates the unique contributions of perinatal risk and genetic and environmental influences on child behavior using data from 561 domestic US adoption triads (birth mothers, adopted child, and adoptive parents). Findings show distinct patterns of associations among genetic (birth mother psychopathology), prenatal (six maternal…

  14. Additive genetic breeding values correlate with the load of partially deleterious mutations.

    PubMed

    Tomkins, Joseph L; Penrose, Marissa A; Greeff, Johan; LeBas, Natasha R

    2010-05-14

    The mutation-selection-balance model predicts most additive genetic variation to arise from numerous mildly deleterious mutations of small effect. Correspondingly, "good genes" models of sexual selection and recent models for the evolution of sex are built on the assumption that mutational loads and breeding values for fitness-related traits are correlated. In support of this concept, inbreeding depression was negatively genetically correlated with breeding values for traits under natural and sexual selection in the weevil Callosobruchus maculatus. The correlations were stronger in males and strongest for condition. These results confirm the role of existing, partially recessive mutations in maintaining additive genetic variation in outbred populations, reveal the nature of good genes under sexual selection, and show how sexual selection can offset the cost of sex.

  15. Additive genetic variation for tolerance to estrogen pollution in natural populations of Alpine whitefish (Coregonus sp., Salmonidae).

    PubMed

    Brazzola, Gregory; Chèvre, Nathalie; Wedekind, Claus

    2014-11-01

    The evolutionary potential of natural populations to adapt to anthropogenic threats critically depends on whether there exists additive genetic variation for tolerance to the threat. A major problem for water-dwelling organisms is chemical pollution, and among the most common pollutants is 17α-ethinylestradiol (EE2), the synthetic estrogen that is used in oral contraceptives and that can affect fish at various developmental stages, including embryogenesis. We tested whether there is variation in the tolerance to EE2 within Alpine whitefish. We sampled spawners from two species of different lakes, bred them in vitro in a full-factorial design each, and studied growth and mortality of embryos. Exposure to EE2 turned out to be toxic in all concentrations we tested (≥1 ng/L). It reduced embryo viability and slowed down embryogenesis. We found significant additive genetic variation in EE2-induced mortality in both species, that is, genotypes differed in their tolerance to estrogen pollution. We also found maternal effects on embryo development to be influenced by EE2, that is, some maternal sib groups were more susceptible to EE2 than others. In conclusion, the toxic effects of EE2 were strong, but both species demonstrated the kind of additive genetic variation that is necessary for an evolutionary response to this type of pollution.

  16. Additive genetic variation for tolerance to estrogen pollution in natural populations of Alpine whitefish (Coregonus sp., Salmonidae)

    PubMed Central

    Brazzola, Gregory; Chèvre, Nathalie; Wedekind, Claus

    2014-01-01

    The evolutionary potential of natural populations to adapt to anthropogenic threats critically depends on whether there exists additive genetic variation for tolerance to the threat. A major problem for water-dwelling organisms is chemical pollution, and among the most common pollutants is 17α-ethinylestradiol (EE2), the synthetic estrogen that is used in oral contraceptives and that can affect fish at various developmental stages, including embryogenesis. We tested whether there is variation in the tolerance to EE2 within Alpine whitefish. We sampled spawners from two species of different lakes, bred them in vitro in a full-factorial design each, and studied growth and mortality of embryos. Exposure to EE2 turned out to be toxic in all concentrations we tested (≥1 ng/L). It reduced embryo viability and slowed down embryogenesis. We found significant additive genetic variation in EE2-induced mortality in both species, that is, genotypes differed in their tolerance to estrogen pollution. We also found maternal effects on embryo development to be influenced by EE2, that is, some maternal sib groups were more susceptible to EE2 than others. In conclusion, the toxic effects of EE2 were strong, but both species demonstrated the kind of additive genetic variation that is necessary for an evolutionary response to this type of pollution. PMID:25553069

  17. Genetic and nongenetic factors influencing substance use by adolescents.

    PubMed

    Liepman, Michael R; Calles, Joseph L; Kizilbash, Leena; Nazeer, Ahsan; Sheikh, Suhail

    2002-06-01

    Substance use by adolescents can lead to mortality, physical and social morbidity, and a brain disorder called substance dependence if allowed to progress to chronic, repetitive self-administration. Substance abuse and dependence can begin in adolescence or adulthood, but many of the attitudes and behaviors that affect risk become established during adolescence. Genetic risk factors have been identified for at least two distinct disorders and more are under active study to determine the cause and pathophysiology of addictive disorders. Although much remains to be done, a complex interplay of numerous genetic and environmental risk factors clearly is involved. An understanding of the most important environmental risk factors has led to effective primary prevention approaches; knowledge of the genetic risk factors and neuropharmacology of drugs of abuse in the brain is beginning to influence secondary prevention efforts and treatment, including better medications for addictive disorders. A large proportion of adolescents carry a genetic vulnerability that can be expressed when they accept peer and societal influences that promote experimentation with substances of abuse. At that point, the genetic factors take over, maintaining the drug self-administration pattern. Decay of social status results from association with drug-using peers and shifts in priorities supportive of drug use rather than education and productivity. More research into the genetic risk factors and applications of current knowledge to treatment is needed.

  18. Irradiation influence on the detection of genetic-modified soybeans

    NASA Astrophysics Data System (ADS)

    Villavicencio, A. L. C. H.; Araújo, M. M.; Baldasso, J. G.; Aquino, S.; Konietzny, U.; Greiner, R.

    2004-09-01

    Three soybean varieties were analyzed to evaluate the irradiation influence on the detection of genetic modification. Samples were treated in a 60Co facility at dose levels of 0, 500, 800, and 1000Gy. The seeds were at first analyzed by Comet Assay as a rapid screening irradiation detection method. Secondly, germination test was performed to detect the viability of irradiated soybeans. Finally, because of its high sensitivity, its specificity and rapidity the polimerase chain reaction was the method applied for genetic modified organism detection. The analysis of DNA by the single technique of microgel electrophoresis of single cells (DNA Comet Assay) showed that DNA damage increased with increasing radiation doses. No negative influence of irradiation on the genetic modification detection was found.

  19. Reading Development in Young Children: Genetic and Environmental Influences

    ERIC Educational Resources Information Center

    Logan, Jessica A. R.; Hart, Sara A.; Cutting, Laurie; Deater-Deckard, Kirby; Schatschneider, Chris; Petrill, Stephen

    2013-01-01

    The development of reading skills in typical students is commonly described as a rapid growth across early grades of active reading education, with a slowing down of growth as active instruction tapers. This study examined the extent to which genetics and environments influence these growth rates. Participants were 371 twin pairs, aged…

  20. Genetic Influences on Learning Disabilities and Speech and Language Disorders.

    ERIC Educational Resources Information Center

    Pennington, Bruce F.

    1983-01-01

    Comprehensively reviews known examples of genetically influenced learning disabilities and speech and language disorders, including familial dyslexia, stuttering, and other speech and language disorders, as well as sex-chromosome anomalies, treated PKU, and minor auto-somal anomalies. (Author/RH)

  1. Influence of urea additives on micellar morphology/protein conformation.

    PubMed

    Gull, Nuzhat; Kumar, Sanjeev; Ahmad, Basir; Khan, Rizwan Hassan; Kabir-ud-Din

    2006-08-01

    The present study highlights the fact that the effect of additives (urea, monomethylurea, thiourea) on the supramolecular assemblies and proteins is strikingly similar. To investigate the effect, a viscometeric study on sphere-to-rod transition (s-->r) was undertaken in a system (3.5% tetradecyltrimethylammonium bromide+0.05 M NaBr + 1-pentanol [P.M. Lindemuth, G.L. Bertand, J. Phys. Chem. 97 (1993) 7769]) in the presence and absence of the said additives. [1-pentanol] needed for s-->r (i.e. [1-pentanol]s-->r) was determined from the relative viscosity versus [1-pentanol] profiles. It was observed that the additives preponed as well as postponed s-->r depending upon their nature and concentrations. These effects are explained in terms of increased polarity of the medium and the adsorption ability of urea/monomethylurea on the charged surfactant monomers of the micelle. In case of thiourea, postponement of s-->r was observed throughout which is attributed to its structure. To derive an analogy between micelles and proteins the additive-induced conformational changes of the protein, bovine serum albumin (BSA) was taken to monitor secondary structural changes and tryptophanyl fluorescence. A marked increase in secondary structure (far-UVCD) and increased tryptophanyl fluorescence with a marked blue shift in lambdamax was observed in presence of low concentrations of urea or alkylurea. This indicates that a more compact environment is created in presence of these additives, if added judiciously. Addition of thiourea to BSA caused a marked quenching without any significant change in lambdamax. The large decrease in tryptophanyl emission in presence of low thiourea concentrations seems to be specific and related to thiourea structure as no corresponding changes were observed in urea/alkylurea. All these effects pertaining to protein behavior fall in line with that of morphological observations on the present as well as surfactant systems studied earlier [S. Kumar, N

  2. Influence of bio-additives on combustion of liquid fuels

    NASA Astrophysics Data System (ADS)

    Patsch, Marek; Durčanský, Peter

    2016-06-01

    In this contribution there are analyses of the course of the pressure curves, which were measured in the diesel engine MD UR IV, which is often used in cogeneration units. The results of the analyses confront the properties and quality of fuels. The measuring was realized with a constant rotation speed of the engine and by using different fuels. The fuels were pure diesel fuels and diesel fuel with bio-additives of hydrogenate RO (rape oil), FAME, and bioethanol.

  3. The influence of additives on rheological properties of limestone slurry

    NASA Astrophysics Data System (ADS)

    Jaworska, B.; Bartosik, A.

    2014-08-01

    Limestone slurry appears in the lime production process as the result of rinsing the processed material. It consists of particles with diameter smaller than 2 mm and the water that is a carrier of solid fraction. Slurry is directed to the settling tank, where the solid phase sediments and the excess water through the transfer system is recovered for re-circulation. Collected at the bottom of the tank sludge is deposited in a landfill located on the premises. Rheological properties of limestone slurry hinder its further free transport in the pipeline due to generated flow resistance. To improve this state of affairs, chemical treatment of drilling fluid, could be applied, of which the main task is to give the slurry properties suitable for the conditions encountered in hydrotransport. This treatment consists of applying chemical additives to slurry in sufficient quantity. Such additives are called as deflocculants or thinners or dispersants, and are chemical compounds which added to aqueous solution are intended to push away suspended particles from each other. The paper presents the results of research allowing reduction of shear stress in limestone slurry. Results demonstrate rheological properties of limestone slurry with and without the addition of modified substances which causes decrease of slurry viscosity, and as a consequence slurry shear stress for adopted shear rate. Achieving the desired effects increases the degree of dispersion of the solid phase suspended in the carrier liquid and improving its ability to smooth flow with decreased friction.

  4. Distinct Genetic Influences on Cortical and Subcortical Brain Structures

    PubMed Central

    Wen, Wei; Thalamuthu, Anbupalam; Mather, Karen A.; Zhu, Wanlin; Jiang, Jiyang; de Micheaux, Pierre Lafaye; Wright, Margaret J.; Ames, David; Sachdev, Perminder S.

    2016-01-01

    This study examined the heritability of brain grey matter structures in a subsample of older adult twins (93 MZ and 68 DZ twin pairs; mean age 70 years) from the Older Australian Twins Study. The heritability estimates of subcortical regions ranged from 0.41 (amygdala) to 0.73 (hippocampus), and of cortical regions, from 0.55 (parietal lobe) to 0.78 (frontal lobe). Corresponding structures in the two hemispheres were influenced by the same genetic factors and high genetic correlations were observed between the two hemispheric regions. There were three genetically correlated clusters, comprising (i) the cortical lobes (frontal, temporal, parietal and occipital lobes); (ii) the basal ganglia (caudate, putamen and pallidum) with weak genetic correlations with cortical lobes, and (iii) the amygdala, hippocampus, thalamus and nucleus accumbens grouped together, which genetically correlated with both basal ganglia and cortical lobes, albeit relatively weakly. Our study demonstrates a complex but patterned and clustered genetic architecture of the human brain, with divergent genetic determinants of cortical and subcortical structures, in particular the basal ganglia. PMID:27595976

  5. Shedding subspecies: The influence of genetics on reptile subspecies taxonomy.

    PubMed

    Torstrom, Shannon M; Pangle, Kevin L; Swanson, Bradley J

    2014-07-01

    The subspecies concept influences multiple aspects of biology and management. The 'molecular revolution' altered traditional methods (morphological traits) of subspecies classification by applying genetic analyses resulting in alternative or contradictory classifications. We evaluated recent reptile literature for bias in the recommendations regarding subspecies status when genetic data were included. Reviewing characteristics of the study, genetic variables, genetic distance values and noting the species concepts, we found that subspecies were more likely elevated to species when using genetic analysis. However, there was no predictive relationship between variables used and taxonomic recommendation. There was a significant difference between the median genetic distance values when researchers elevated or collapsed a subspecies. Our review found nine different concepts of species used when recommending taxonomic change, and studies incorporating multiple species concepts were more likely to recommend a taxonomic change. Since using genetic techniques significantly alter reptile taxonomy there is a need to establish a standard method to determine the species-subspecies boundary in order to effectively use the subspecies classification for research and conservation purposes.

  6. Genetic and environmental influences on cortical thickness among 14-year-old twins

    PubMed Central

    Yang, Yaling; Joshi, Anand A.; Joshi, Shantanu H.; Baker, Laura A.; Narr, Katherine L.; Raine, Adrian; Thompson, Paul M.; Damasio, Hanna

    2013-01-01

    The overall volume of the brain has been found to be under relatively strong genetic control, but the relative strength of genetic and environmental factors on between-person variations in regional cortical thickness in adolescence is still not well understood. Here, we analyzed structural MRI data from 108 14-year-old healthy twins (54 females/54 males) to determine the relative contributions of genes and the environment toward regional variations in gray matter thickness across the cortex. After extracting cortical thickness values at a high spatial resolution, an A/C/E structural equation model that divides the variations into additive genetic (A), shared (C), and unique (E) environmental components was fitted. There was considerable regional variability in the magnitude of genetic influences on cortical thickness after controlling for sex. Regions with genetic contributions of greater than 80% were observed in the prefrontal cortex, predominantly in the bilateral dorsolateral and mesial superior frontal regions. No region showed prominent shared environmental influences, but unique environmental influences of over 80% were found in parietal association regions. The genetic variance for cortical thickness in adolescents in prefrontal regions overlapped with previous findings in adults. However, the unique environmental effects observed in multimodal parietal association cortices with converging inputs from visual, auditory, somatosensory regions, and neighboring secondary association cortices suggest that these regional variations are more shaped by experience and could form targets for early interventions in youth with behavioral disorders. PMID:22713927

  7. Landscape influences on genetic differentiation among bull trout populations in a stream-lake network.

    PubMed

    Meeuwig, Michael H; Guy, Christopher S; Kalinowski, Steven T; Fredenberg, Wade A

    2010-09-01

    This study examined the influence of landscape heterogeneity on genetic differentiation between migratory bull trout (Salvelinus confluentus) populations in Glacier National Park, Montana. An information-theoretic approach was used to compare different conceptual models of dispersal associated with barriers, different models of isolation by distance, and the combined effects of barriers, waterway distance, patch size, and intra- and inter-drainage distribution of populations on genetic differentiation between bull trout populations. The effect of distance between populations on genetic differentiation was best explained by partitioning the effects of mainstem and tributary stream sections. Models that categorized barriers as having a one-way effect (i.e. allowed downstream dispersal) or a two-way effect were best supported. Additionally, patch size and the distribution of populations among drainages influenced genetic differentiation. Genetic differentiation between bull trout populations in Glacier National Park is linked to landscape features that restrict dispersal. However, this analysis illustrates that modelling variability within landscape features, such as dispersal corridors, will benefit landscape genetic analyses. Additionally, the framework used for evaluating the effects of barriers must consider not just barrier presence, but also potential asymmetries in barrier effects with respect to the organism under investigation.

  8. Landscape influences on genetic differentiation among bull trout populations in a stream-lake network

    USGS Publications Warehouse

    Meeuwig, M.H.; Guy, C.S.; Kalinowski, S.T.; Fredenberg, W.A.

    2010-01-01

    This study examined the influence of landscape heterogeneity on genetic differentiation between migratory bull trout (Salvelinus confluentus) populations in Glacier National Park, Montana. An information-theoretic approach was used to compare different conceptual models of dispersal associated with barriers, different models of isolation by distance, and the combined effects of barriers, waterway distance, patch size, and intra- and inter-drainage distribution of populations on genetic differentiation between bull trout populations. The effect of distance between populations on genetic differentiation was best explained by partitioning the effects of mainstem and tributary stream sections. Models that categorized barriers as having a one-way effect (i.e. allowed downstream dispersal) or a two-way effect were best supported. Additionally, patch size and the distribution of populations among drainages influenced genetic differentiation. Genetic differentiation between bull trout populations in Glacier National Park is linked to landscape features that restrict dispersal. However, this analysis illustrates that modelling variability within landscape features, such as dispersal corridors, will benefit landscape genetic analyses. Additionally, the framework used for evaluating the effects of barriers must consider not just barrier presence, but also potential asymmetries in barrier effects with respect to the organism under investigation.

  9. Genetic diversity of seagrass seeds influences seedling morphology and biomass.

    PubMed

    Randall Hughes, A; Hanley, Torrance C; Schenck, Forest R; Hays, Cynthia G

    2016-12-01

    Genetic diversity can influence ecological processes throughout ontogeny, yet whether diversity at early life history stages is important in long-lived taxa with overlapping generations is unclear. Seagrass systems provide some of the best evidence for the ecological effects of genetic diversity among adult shoots, but we do not know if the genetic diversity of seeds and seedlings also influences seagrass ecology. We tested the effects of seagrass (Zostera marina) seed diversity and relatedness on germination success, seedling morphology, and seedling production by comparing experimental assemblages of seeds collected from single reproductive shoots ("monocultures") to assemblages of seeds collected from multiple reproductive shoots ("polycultures"). There was no difference in seedling emergence, yet seedlings from polycultures had larger shoots above and below ground than seedlings from monocultures at the end of the 1-yr experiment. Genetic relatedness of the seedlings predicted some aspects of shoot morphology, with more leaves and longer roots and shoots at intermediate levels of relatedness, regardless of seed diversity. Our results suggest that studies of only adult stages may underestimate the importance of genetic diversity if the benefits at early life history stages continue to accrue throughout the life cycle.

  10. Education modifies genetic and environmental influences on BMI.

    PubMed

    Johnson, Wendy; Kyvik, Kirsten Ohm; Skytthe, Axel; Deary, Ian J; Sørensen, Thorkild I A

    2011-01-19

    Obesity is more common among the less educated, suggesting education-related environmental triggers. Such triggers may act differently dependent on genetic and environmental predisposition to obesity. In a Danish Twin Registry survey, 21,522 twins of same-sex pairs provided zygosity, height, weight, and education data. Body mass index (BMI = kg weight/ m height(2)) was used to measure degree of obesity. We used quantitative genetic modeling to examine how genetic and shared and nonshared environmental variance in BMI differed by level of education and to estimate how genetic and shared and nonshared environmental correlations between education and BMI differed by level of education, analyzing women and men separately. Correlations between education and BMI were -.13 in women, -.15 in men. High BMI's were less frequent among well-educated participants, generating less variance. In women, this was due to restriction of all forms of variance, overall by a factor of about 2. In men, genetic variance did not vary with education, but results for shared and nonshared environmental variance were similar to those for women. The contributions of the shared environment to the correlations between education and BMI were substantial among the well-educated, suggesting importance of familial environmental influences common to high education and lower BMI. Family influence was particularly important in linking high education and lower levels of obesity.

  11. Drinking experience uncovers genetic influences on alcohol expectancies across adolescence

    PubMed Central

    Young-Wolff, Kelly C.; Wang, Pan; Tuvblad, Catherine; Baker, Laura A.; Raine, Adrian; Prescott, Carol A.

    2015-01-01

    Aims To test whether drinking onset moderates genetic and environmental contributions to individual differences in the etiology of alcohol expectancies across adolescence. Design Longitudinal twin design. Setting Community sample from Los Angeles, CA, USA. Participants A total of 1292 male and female twins, aged 11–18 years, were assessed at 1 (n = 440), 2 (n = 587) or 3 (n = 265) occasions as part of the risk factors for the Antisocial Behavior Twin Study. Measurements Social behavioral (SB) alcohol expectancies were measured using an abbreviated version of the Social Behavioral subscale from the Alcohol Expectancy Questionnaire for adolescents (AEQ-A). Drinking onset was defined as >1 full drink of alcohol. Findings Alcohol expectancies increased over age and the increase became more rapid following onset of drinking. The importance of genetic and environmental influences on SB scores varied with age and drinking status, such that variation prior to drinking onset was attributed solely to environmental influences, whereas all post-onset variation was attributed to genetic influences. Results did not differ significantly by sex. Conclusion Only environmental factors explain beliefs about the social and behavioral consequences of alcohol use prior to drinking onset, whereas genetic factors explain an increasing proportion of the variance in these beliefs after drinking onset. PMID:25586461

  12. Mapping genetic influences on the corticospinal motor system in humans.

    PubMed

    Cheeran, B J; Ritter, C; Rothwell, J C; Siebner, H R

    2009-11-24

    It is becoming increasingly clear that genetic variations account for a certain amount of variance in the acquisition and maintenance of different skills. Until now, several levels of genetic influences were examined, ranging from global heritability estimates down to the analysis of the contribution of single nucleotide polymorphisms (SNP) and variable number tandem repeats. In humans, the corticospinal motor system is essential to the acquisition of fine manual motor skills which require a finely tuned coordination of activity in distal forelimb muscles. Here we review recent brain mapping studies that have begun to explore the influence of functional genetic variation as well as mutations on function and structure of the human corticospinal motor system, and also the clinical implications of these studies. Transcranial magnetic stimulation of the primary motor hand area revealed a modulatory role of the common val66met polymorphism in the BDNF gene on corticospinal plasticity. Diffusion-sensitive magnetic resonance imaging has been employed to pinpoint subtle structural changes in corticospinal motor projections in individuals carrying a mutation in genes associated with motor neuron degeneration. These studies underscore the potential of non-invasive brain mapping techniques to characterize the genetic influence on the human corticospinal motor system.

  13. Simultaneous Estimation of Additive and Mutational Genetic Variance in an Outbred Population of Drosophila serrata

    PubMed Central

    McGuigan, Katrina; Aguirre, J. David; Blows, Mark W.

    2015-01-01

    How new mutations contribute to genetic variation is a key question in biology. Although the evolutionary fate of an allele is largely determined by its heterozygous effect, most estimates of mutational variance and mutational effects derive from highly inbred lines, where new mutations are present in homozygous form. In an attempt to overcome this limitation, middle-class neighborhood (MCN) experiments have been used to assess the fitness effect of new mutations in heterozygous form. However, because MCN populations harbor substantial standing genetic variance, estimates of mutational variance have not typically been available from such experiments. Here we employ a modification of the animal model to analyze data from 22 generations of Drosophila serrata bred in an MCN design. Mutational heritability, measured for eight cuticular hydrocarbons, 10 wing-shape traits, and wing size in this outbred genetic background, ranged from 0.0006 to 0.006 (with one exception), a similar range to that reported from studies employing inbred lines. Simultaneously partitioning the additive and mutational variance in the same outbred population allowed us to quantitatively test the ability of mutation-selection balance models to explain the observed levels of additive and mutational genetic variance. The Gaussian allelic approximation and house-of-cards models, which assume real stabilizing selection on single traits, both overestimated the genetic variance maintained at equilibrium, but the house-of-cards model was a closer fit to the data. This analytical approach has the potential to be broadly applied, expanding our understanding of the dynamics of genetic variance in natural populations. PMID:26384357

  14. Ecological factors influence population genetic structure of European grey wolves.

    PubMed

    Pilot, Malgorzata; Jedrzejewski, Wlodzimierz; Branicki, Wojciech; Sidorovich, Vadim E; Jedrzejewska, Bogumila; Stachura, Krystyna; Funk, Stephan M

    2006-12-01

    Although the mechanisms controlling gene flow among populations are particularly important for evolutionary processes, they are still poorly understood, especially in the case of large carnivoran mammals with extensive continuous distributions. We studied the question of factors affecting population genetic structure in the grey wolf, Canis lupus, one of the most mobile terrestrial carnivores. We analysed variability in mitochondrial DNA and 14 microsatellite loci for a sample of 643 individuals from 59 localities representing most of the continuous wolf range in Eastern Europe. We tested an array of geographical, historical and ecological factors to check whether they may explain genetic differentiation among local wolf populations. We showed that wolf populations in Eastern Europe displayed nonrandom spatial genetic structure in the absence of obvious physical barriers to movement. Neither topographic barriers nor past fragmentation could explain spatial genetic structure. However, we found that the genetic differentiation among local populations was correlated with climate, habitat types, and wolf diet composition. This result shows that ecological processes may strongly influence the amount of gene flow among populations. We suggest natal-habitat-biased dispersal as an underlying mechanism linking population ecology with population genetic structure.

  15. Influence of Antimony-Halogen Additives on Flame Propagation.

    PubMed

    Babushok, Valeri I; Deglmann, Peter; Krämer, Roland; Linteris, Gregory T

    2017-01-01

    A kinetic model for flame inhibition by antimony-halogen compounds in hydrocarbon flames is developed. Thermodynamic data for the relevant species are assembled from the literature, and calculations are performed for a large set of additional species of Sb-Br-C-H-O system. The main Sb- and Br-containing species in the combustion products and reaction zone are determined using flame equilibrium calculations with a set of possible Sb-Br-C-H-O species, and these are used to develop the species and reactions in a detailed kinetic model for antimony flame inhibition. The complete thermodynamic data set and kinetic mechanism are presented. Laminar burning velocity simulations are used to validate the mechanism against available data in the literature, as well as to explore the relative performance of the antimony-halogen compounds. Further analysis of the premixed flame simulations has unraveled the catalytic radical recombination cycle of antimony. It includes (primarily) the species Sb, SbO, SbO2, and HOSbO, and the reactions: Sb+O+M=SbO+M; Sb+O2+M=SbO2+M; SbO+H=Sb+OH; SbO+O=Sb+O2; SbO+OH+M=HOSbO+M; SbO2+H2O=HOSbO+OH; HOSbO+H=SbO+H2O; SbO+O+M=SbO2+M. The inhibition cycles of antimony are shown to be more effective than those of bromine, and intermediate between the highly effective agents CF3Br and trimethylphosphate. Preliminary examination of a Sb/Br gas-phase system did not show synergism in the gas-phase catalytic cycles (i.e., they acted essentially independently).

  16. Factors influencing uptake of familial long QT syndrome genetic testing.

    PubMed

    Burns, Charlotte; McGaughran, Julie; Davis, Andrew; Semsarian, Christopher; Ingles, Jodie

    2016-02-01

    Ongoing challenges of clinical assessment of long QT syndrome (LQTS) highlight the importance of genetic testing in the diagnosis of asymptomatic at-risk family members. Effective access, uptake, and communication of genetic testing are critical for comprehensive cascade family screening and prevention of disease complications such as sudden cardiac death. The aim of this study was to describe factors influencing uptake of LQTS genetic testing, including those relating to access and family communication. We show those who access genetic testing are overrepresented by the socioeconomically advantaged, and that although overall family communication is good, there are some important barriers to be addressed. There were 75 participants (aged 18 years or more, with a clinical and/or genetic diagnosis of LQTS; response rate 71%) who completed a survey including a number of validated scales; demographics; and questions about access, uptake, and communication. Mean age of participants was 46 ± 16 years, 20 (27%) were males and 60 (80%) had genetic testing with a causative gene mutation in 42 (70%). Overall uptake of cascade testing within families was 60% after 4 years from proband genetic diagnosis. All participants reported at least one first-degree relative had been informed of their risk, whereas six (10%) reported at least one first-degree relative had not been informed. Those who were anxious or depressed were more likely to perceive barriers to communicating. Genetic testing is a key aspect of care in LQTS families and intervention strategies that aim to improve equity in access and facilitate effective family communication are needed.

  17. Genetic and environmental factors influencing human diseases with telomere dysfunction

    PubMed Central

    Ly, Hinh

    2009-01-01

    Both genetic and environmental factors have been implicated in the mechanism underlying the pathogenesis of serious and fatal forms of human blood disorder (acquired aplastic anemia, AA) and lung disease (idiopathic pulmonary fibrosis, IPF). We and other researchers have recently shown that naturally occurring mutations in genes encoding the telomere maintenance complex (telomerase) may predispose patients to the development of AA or IPF. Epidemiological data have shown that environmental factors can also cause and/or exacerbate the pathogenesis of these diseases. The exact mechanisms that these germ-line mutations in telomere maintenance genes coupled with environmental insults lead to ineffective hematopoiesis in AA and lung scarring in IPF are not well understood, however. In this article, we provide a summary of evidence for environmental and genetic factors influencing the diseases. These studies provide important insights into the interplay between environmental and genetic factors leading to human diseases with telomere dysfunction. PMID:19684885

  18. Genetic and Environmental Influences on Global Family Conflict

    PubMed Central

    Horwitz, Briana N.; Neiderhiser, Jenae M.; Ganiban, Jody M.; Spotts, Erica L.; Lichtenstein, Paul; Reiss, David

    2010-01-01

    This study examined genetic and environmental influences on global family conflict. The sample comprised 872 same-sex pairs of twin parents, their spouses/partners and one adolescent child per twin from the Twin and Offspring Study in Sweden (TOSS). The twins, spouses and child each reported on the degree of family conflict, and there was significant agreement among the family members’ ratings. These shared perspectives were explained by one common factor, indexing global family conflict. Genetic influences explained 36% of the variance in this common factor, suggesting that twins’ heritable characteristics contribute to family conflict, via genotype-environment correlation. Nonshared environmental effects explained the remaining 64% of this variance, indicating that twins’ unique childhood and/or current family experiences also play an important role. PMID:20438198

  19. An atlas of genetic influences on human blood metabolites

    PubMed Central

    Santos, Rita; Huang, Jie; Arnold, Matthias; Erte, Idil; Forgetta, Vincenzo; Yang, Tsun-Po; Walter, Klaudia; Menni, Cristina; Chen, Lu; Vasquez, Louella; Valdes, Ana M.; Hyde, Craig L.; Wang, Vicky; Ziemek, Daniel; Xi, Li; Grundberg, Elin; Waldenberger, Melanie; Richards, J. Brent; Mohney, Robert P.; Milburn, Michael V.; John, Sally L.; Trimmer, Jeff; Theis, Fabian J.; Overington, John P.; Suhre, Karsten; Brosnan, M. Julia; Gieger, Christian; Kastenmüller, Gabi; Spector, Tim D; Soranzo, Nicole

    2014-01-01

    Genome-wide association scans with high-throughput metabolic profiling provide unprecedented insights into how genetic variation influences metabolism and complex disease. Here we report the most comprehensive exploration of genetic loci influencing human metabolism to date, including 7,824 adult individuals from two European population studies. We report genome-wide significant associations at 145 metabolic loci and their biochemical connectivity regarding more than 400 metabolites in human blood. We extensively characterize the resulting in vivo blueprint of metabolism in human blood by integrating it with information regarding gene expression, heritability, overlap with known drug targets, previous association with complex disorders and inborn errors of metabolism. We further developed a database and web-based resources for data mining and results visualization. Our findings contribute to a greater understanding of the role of inherited variation in blood metabolic diversity, and identify potential new opportunities for pharmacologic development and disease understanding. PMID:24816252

  20. Influence of GSTT1 Genetic Polymorphisms on Arsenic Metabolism

    PubMed Central

    Kile, Molly L.; Houseman, E. Andres; Quamruzzaman, Quazi; Rahman, Mahmuder; Mahiuddin, Golam; Mostofa, Golam; Hsueh, Yu-Mei; Christiani, David C.

    2014-01-01

    SUMMARY A repeated measures study was conducted in Pabna, Bangladesh to investigate factors that influence biomarkers of arsenic exposure. Drinking water arsenic concentrations were measured by inductively-coupled plasma mass spectrometry (ICP-MS) and urinary arsenic species [arsenite (As3), arsenate (As5), monomethylarsonic acid (MMA) and dimethylarsinic acid (DMA)] were detected using High Performance Liquid Chromatography (HPLC) and Hydride Generated Atomic Absorption Spectrometry (HGAAS). Linear mixed effects models with random intercepts were used to evaluate the effects of arsenic contaminated drinking water, genetic polymorphisms in glutathione-S-transferase (GSTT1 and GSTM1) on total urinary arsenic, primary methylation index [MMA/(As3+As5)], secondary methylation index (DMA/MMA), and total methylation index [(MMA+DMA)/(As3+As5)]. Drinking water arsenic concentrations were positively associated with total urinary arsenic concentrations and total methylation index. A significant gene-environment interaction was observed between urinary arsenic exposure in drinking water GSTT1 but not GSTM1 where GSTT1 null individuals had a slightly higher excretion rate of arsenic compared to GSTT1 wildtypes after adjusting for other factors. Additionally, individuals with GSTT1 null genotypes had a higher primary methylation index and lower secondary methylation index compared to GSTT1 wildtype after adjusting for other factors. This data suggests that GSTT1 contributes to the observed variability in arsenic metabolism. Since individuals with a higher primary methylation index and lower secondary methylation index are more susceptible to arsenic related disease, these results suggest that GSTT1 null individuals may be more susceptible to arsenic-related toxicity. No significant associations were observed between GSTM1 and any of the arsenic methylation indices. PMID:24511153

  1. Influence of GSTT1 Genetic Polymorphisms on Arsenic Metabolism.

    PubMed

    Kile, Molly L; Houseman, E Andres; Quamruzzaman, Quazi; Rahman, Mahmuder; Mahiuddin, Golam; Mostofa, Golam; Hsueh, Yu-Mei; Christiani, David C

    2013-08-01

    A repeated measures study was conducted in Pabna, Bangladesh to investigate factors that influence biomarkers of arsenic exposure. Drinking water arsenic concentrations were measured by inductively-coupled plasma mass spectrometry (ICP-MS) and urinary arsenic species [arsenite (As3), arsenate (As5), monomethylarsonic acid (MMA) and dimethylarsinic acid (DMA)] were detected using High Performance Liquid Chromatography (HPLC) and Hydride Generated Atomic Absorption Spectrometry (HGAAS). Linear mixed effects models with random intercepts were used to evaluate the effects of arsenic contaminated drinking water, genetic polymorphisms in glutathione-S-transferase (GSTT1 and GSTM1) on total urinary arsenic, primary methylation index [MMA/(As3+As5)], secondary methylation index (DMA/MMA), and total methylation index [(MMA+DMA)/(As3+As5)]. Drinking water arsenic concentrations were positively associated with total urinary arsenic concentrations and total methylation index. A significant gene-environment interaction was observed between urinary arsenic exposure in drinking water GSTT1 but not GSTM1 where GSTT1 null individuals had a slightly higher excretion rate of arsenic compared to GSTT1 wildtypes after adjusting for other factors. Additionally, individuals with GSTT1 null genotypes had a higher primary methylation index and lower secondary methylation index compared to GSTT1 wildtype after adjusting for other factors. This data suggests that GSTT1 contributes to the observed variability in arsenic metabolism. Since individuals with a higher primary methylation index and lower secondary methylation index are more susceptible to arsenic related disease, these results suggest that GSTT1 null individuals may be more susceptible to arsenic-related toxicity. No significant associations were observed between GSTM1 and any of the arsenic methylation indices.

  2. Influence of genetics on the nephritogenic potential of proteoglycans.

    PubMed Central

    Lelongt, B.; Kashihara, N.; Makino, H.; Kanwar, Y. S.

    1992-01-01

    Nephritogenic potential of antibodies directed against one of the glomerular basement membrane (GBM) components, i.e., heparan sulfate-proteoglycan (HS-PG), was investigated in different strain of rats, i.e., Brown Norway, Lewis, Long Evans, and Sprague-Dawley. The rats were given two intravenous injections of anti-HS-PG antibody on days 1 and 3, and killed 2 to 8 weeks later. Before killing, blood and urine were collected for determination of anti-rabbit IgG levels and excretion of proteins, respectively. In addition, the right kidney was perfused with 125I-anti-rat IgG to quantitate the amount of immune-complexes present within the GBM. The tissues were processed for morphologic, autoradiographic, and immunofluorescent studies. The anti-HS-PG antibody was seen uniformly bound to GBM equally in all strains of rats. However, the protein-uric response was as follows: Brown Norway much much greater than Lewis much greater than Long Evans greater than Sprague Dawley. Also, the glomerular cells, monocytes in the glomerular capillaries, immunoreactivity of rat IgG and C3 frequency of subepithelial immune deposits, serum levels of anti-rabbit IgG, and the amount of 125I-anti-rat IgG bound to the GBM were proportionately increased among different strains of rats. The data suggest that the sustained presence of anti-HS-PG antibodies in the subepithelial aspect of the GBM with differential humoral response in the production of the antibody by the host most likely attributed to the variable glomerular damage in different strains of rats. Thus, it seems that the genetic makeup of a given strain of rat heavily influences the nephritogenic potential of an antibody and consequentially the outcome of the immune complex-mediated glomerular injury. Images Figure 2 Figure 3 Figure 4 Figure 5 PMID:1519664

  3. Evidence of Shared Genome-Wide Additive Genetic Effects on Interpersonal Trauma Exposure and Generalized Vulnerability to Drug Dependence in a Population of Substance Users.

    PubMed

    Palmer, Rohan H C; Nugent, Nicole R; Brick, Leslie A; Bidwell, Cinnamon L; McGeary, John E; Keller, Matthew C; Knopik, Valerie S

    2016-06-01

    Exposure to traumatic experiences is associated with an increased risk for drug dependence and poorer response to substance abuse treatment (Claus & Kindleberger, 2002; Jaycox, Ebener, Damesek, & Becker, 2004). Despite this evidence, the reasons for the observed associations of trauma and the general tendency to be dependent upon drugs of abuse remain unclear. Data (N = 2,596) from the Study of Addiction: Genetics and Environment were used to analyze (a) the degree to which commonly occurring single nucleotide polymorphisms (SNPs; minor allele frequency > 1%) in the human genome explains exposure to interpersonal traumatic experiences, and (b) the extent to which additive genetic effects on trauma are shared with additive genetic effects on drug dependence. Our results suggested moderate additive genetic influences on interpersonal trauma, h(2) SNP-Interpersonal = .47, 95% confidence interval (CI) [.10, .85], that are partially shared with additive genetic effects on generalized vulnerability to drug dependence, h(2) SNP-DD = .36, 95% CI [.11, .61]; rG-SNP = .49, 95% CI [.02, .96]. Although the design/technique does not exclude the possibility that substance abuse causally increases risk for traumatic experiences (or vice versa), these findings raise the possibility that commonly occurring SNPs influence both the general tendency towards drug dependence and interpersonal trauma.

  4. Additive genetic variation in schizophrenia risk is shared by populations of African and European descent.

    PubMed

    de Candia, Teresa R; Lee, S Hong; Yang, Jian; Browning, Brian L; Gejman, Pablo V; Levinson, Douglas F; Mowry, Bryan J; Hewitt, John K; Goddard, Michael E; O'Donovan, Michael C; Purcell, Shaun M; Posthuma, Danielle; Visscher, Peter M; Wray, Naomi R; Keller, Matthew C

    2013-09-05

    To investigate the extent to which the proportion of schizophrenia's additive genetic variation tagged by SNPs is shared by populations of European and African descent, we analyzed the largest combined African descent (AD [n = 2,142]) and European descent (ED [n = 4,990]) schizophrenia case-control genome-wide association study (GWAS) data set available, the Molecular Genetics of Schizophrenia (MGS) data set. We show how a method that uses genomic similarities at measured SNPs to estimate the additive genetic correlation (SNP correlation [SNP-rg]) between traits can be extended to estimate SNP-rg for the same trait between ethnicities. We estimated SNP-rg for schizophrenia between the MGS ED and MGS AD samples to be 0.66 (SE = 0.23), which is significantly different from 0 (p(SNP-rg = 0) = 0.0003), but not 1 (p(SNP-rg = 1) = 0.26). We re-estimated SNP-rg between an independent ED data set (n = 6,665) and the MGS AD sample to be 0.61 (SE = 0.21, p(SNP-rg = 0) = 0.0003, p(SNP-rg = 1) = 0.16). These results suggest that many schizophrenia risk alleles are shared across ethnic groups and predate African-European divergence.

  5. Genetic and environmental influences on academic achievement trajectories during adolescence.

    PubMed

    Johnson, Wendy; McGue, Matt; Iacono, William G

    2006-05-01

    Most studies have considered the effects of particular characteristics on academic achievement individually, which means that little is known about how they function together. Using the population-based Minnesota Twin Family Study, the authors investigated the effects of child academic engagement (interest, involvement, effort), IQ, depression, externalizing behavior, and family environmental risk on academic achievement (reported school grades) from ages 11 through 17. Hierarchical linear growth curve modeling showed main effects on initial reported Grades for all variables, and IQ mitigated the deleterious effects of family risk and externalizing. Only engagement affected change in Grades through adolescence. Influences on initial Grades were strongly genetically influenced, associated primarily with IQ, engagement, and externalizing behavior. Shared environmental influences on initial Grades linked engagement, IQ, and family risk. Genetic influences on change in Grades were substantial, but they were not associated with the academic, family risk, and mental health covarying factors. These results indicate that age 11 achievement and change in achievement through adolescence show systematic patterns and document the existence of individual differences in the commonly shared developmental experience of adapting to the school environment.

  6. Genetic and environmental influences on food preferences in adolescence12

    PubMed Central

    Herle, Moritz; Shakeshaft, Nicholas

    2016-01-01

    Background: Food preferences vary substantially among adults and children. Twin studies have established that genes and aspects of the shared family environment both play important roles in shaping children’s food preferences. The transition from childhood to adulthood is characterized by large gains in independence, but the relative influences of genes and the environment on food preferences in late adolescence are unknown. Objective: The aim of this study was to quantify the contribution of genetic and environmental influences on food preferences in older adolescents. Design: Participants were 2865 twins aged 18–19 y from the TEDS (Twins Early Development Study), a large population-based cohort of British twins born during 1994–1996. Food preferences were measured by using a self-report questionnaire of 62 individual foods. Food items were categorized into 6 food groups (fruit, vegetables, meat or fish, dairy, starch foods, and snacks) by using factor analysis. Maximum likelihood structural equation modeling established genetic and environmental contributions to variations in preferences for each food group. Results: Genetic factors influenced a significant and substantial proportion of the variation in preference scores of all 6 food groups: vegetables (0.54; 95% CI: 0.47, 0.59), fruit (0.49; 95% CI: 0.43, 0.55), starchy foods (0.32; 95% CI: 0.24, 0.39), meat or fish (0.44; 95% CI: 0.38, 0.51), dairy (0.44; 95% CI: 0.37, 0.50), and snacks (0.43; 95% CI: 0.36, 0.49). Aspects of the environment that are not shared by 2 twins in a family explained all of the remaining variance in food preferences. Conclusions: Food preferences had a moderate genetic basis in late adolescence, in keeping with findings in children. However, by this older age, the influence of the shared family environment had disappeared, and only aspects of the environment unique to each individual twin influenced food preferences. This finding suggests that shared environmental experiences

  7. Genetic and Environmental Influences on Depressive Symptoms in Chinese Adolescents

    PubMed Central

    Chen, Jie; Li, Xinying; Natsuaki, Misaki N.; Leve, Leslie D.; Harold, Gordon T.

    2016-01-01

    Adolescent depression is common and has become a major public health concern in China, yet little research has examined the etiology of depression in Chinese adolescents. In the present study, genetic and environmental influences on Chinese adolescent depressive symptoms were investigated in 1181 twin pairs residing in Beijing, China (ages 11 to 19 years). Child- and parent-versions of the Children’s Depression Inventory (CDI) were used to measure adolescents’ depressive symptoms. For self-reports, genetic factors, shared environmental factors, and non-shared environmental factors accounted for 50%, 5%, and 45% of the variation in depressive symptoms, respectively; for parent-reports, genetic factors, shared environmental factors, and non-shared environmental factors accounted for 51%, 18%, and 31% of the variation, respectively. These estimates are generally consistent with previous findings in Western adolescents, supporting the cross-cultural generalizability of etiological model of adolescent depression. Neither qualitative nor quantitative sex differences were found in the etiological model. Future studies are needed to investigate how genes and environments work together (gene-environment interaction, gene-environment correlation) to influence depression in Chinese adolescents. PMID:24311200

  8. Differential genetic and environmental influences on reactive and proactive aggression in children.

    PubMed

    Baker, Laura A; Raine, Adrian; Liu, Jianghong; Jacobson, Kristen C

    2008-11-01

    While significant heritability for childhood aggression has been claimed, it is not known whether there are differential genetic and environmental contributions to proactive and reactive forms of aggression in children. This study quantifies genetic and environmental contributions to these two forms of aggression in an ethnically diverse urban sample of 9-10 year old twins (N = 1219), and compares results across different informants (child self-report, mother, and teacher ratings) using the Reactive-Proactive Aggression Questionnaire (RPQ). Confirmatory factor analysis of RPQ items indicated a significant and strong fit for a two-factor proactive-reactive model which was significantly superior to a one-factor model and which replicated across gender as well as the three informant sources. Males scored significantly higher than females on both self-report reactive and proactive aggression, findings that replicated on mother and teacher versions of the RPQ. Asian-Americans scored lower than most ethnic groups on reactive aggression yet were equivalent to Caucasians on proactive aggression. African-Americans scored higher than other ethnic groups on all measures of aggression except caregiver reports. Heritable influences were found for both forms of aggression across informants, but while boys' self-reports revealed genetic influences on proactive (50%) and reactive (38%) aggression, shared and non-shared environmental influences almost entirely accounted for girls' self-report reactive and proactive aggression. Although genetic correlations between reactive and proactive aggression were significant across informants, there was evidence that the genetic correlation was less than unity in boys self reported aggression, indicating that genetic factors differ for proactive and reactive aggression. These findings provide the first evidence for varying genetic and environmental etiologies for reactive and proactive aggression across gender, and provide additional support

  9. Development of Fearfulness in Birds: Genetic Factors Modulate Non-Genetic Maternal Influences

    PubMed Central

    Houdelier, Cécilia; Lumineau, Sophie; Bertin, Aline; Guibert, Floriane; De Margerie, Emmanuel; Augery, Matthieu; Richard-Yris, Marie-Annick

    2011-01-01

    The development of fearfulness and the capacity of animals to cope with stressful events are particularly sensitive to early experience with mothers in a wide range of species. However, intrinsic characteristics of young animals can modulate maternal influence. This study evaluated the effect of intrinsic fearfulness on non-genetic maternal influence. Quail chicks, divergently selected for either higher (LTI) or lower fearfulness (STI) and from a control line (C), were cross-fostered by LTI or STI mothers. Behavioural tests estimated the chicks' emotional profiles after separation from the mother. Whatever their genotype, the fearfulness of chicks adopted by LTI mothers was higher than that of chicks adopted by STI mothers. However, genetic background affected the strength of maternal effects: the least emotional chicks (STI) were the least affected by early experience with mothers. We demonstrated that young animal's intrinsic fearfulness affects strongly their sensitivity to non-genetic maternal influences. A young animal's behavioural characteristics play a fundamental role in its own behavioural development processes. PMID:21298038

  10. Female and male genetic effects on offspring paternity: additive genetic (co)variances in female extra-pair reproduction and male paternity success in song sparrows (Melospiza melodia).

    PubMed

    Reid, Jane M; Arcese, Peter; Keller, Lukas F; Losdat, Sylvain

    2014-08-01

    Ongoing evolution of polyandry, and consequent extra-pair reproduction in socially monogamous systems, is hypothesized to be facilitated by indirect selection stemming from cross-sex genetic covariances with components of male fitness. Specifically, polyandry is hypothesized to create positive genetic covariance with male paternity success due to inevitable assortative reproduction, driving ongoing coevolution. However, it remains unclear whether such covariances could or do emerge within complex polyandrous systems. First, we illustrate that genetic covariances between female extra-pair reproduction and male within-pair paternity success might be constrained in socially monogamous systems where female and male additive genetic effects can have opposing impacts on the paternity of jointly reared offspring. Second, we demonstrate nonzero additive genetic variance in female liability for extra-pair reproduction and male liability for within-pair paternity success, modeled as direct and associative genetic effects on offspring paternity, respectively, in free-living song sparrows (Melospiza melodia). The posterior mean additive genetic covariance between these liabilities was slightly positive, but the credible interval was wide and overlapped zero. Therefore, although substantial total additive genetic variance exists, the hypothesis that ongoing evolution of female extra-pair reproduction is facilitated by genetic covariance with male within-pair paternity success cannot yet be definitively supported or rejected either conceptually or empirically.

  11. Genetic and Environmental Influences on Individual Differences in Attitudes Toward Homosexuality: An Australian Twin Study

    PubMed Central

    Shekar, Sri N.; Zietsch, Brendan P.; Eaves, Lindon J.; Bailey, J. Michael; Boomsma, Dorret I.; Martin, Nicholas G.

    2008-01-01

    Previous research has shown that many heterosexuals hold negative attitudes toward homosexuals and homosexuality (homophobia). Although a great deal of research has focused on the profile of homophobic individuals, this research provides little theoretical insight into the aetiology of homophobia. To examine genetic and environmental influences on variation in attitudes toward homophobia, we analysed data from 4,688 twins who completed a questionnaire concerning sexual behaviour and attitudes, including attitudes toward homosexuality. Results show that, in accordance with literature, males have significantly more negative attitudes toward homosexuality than females and non-heterosexuals are less homophobic than heterosexuals. In contrast with some earlier findings, age had no significant effect on the homophobia scores in this study. Genetic modelling showed that variation in homophobia scores could be explained by additive genetic (36%), shared environmental (18%) and unique environmental factors (46%). However, corrections based on previous findings show that the shared environmental estimate may be almost entirely accounted for as extra additive genetic variance arising from assortative mating for homophobic attitudes. The results suggest that variation in attitudes toward homosexuality is substantially inherited, and that social environmental influences are relatively minor. PMID:18347968

  12. Genetic and environmental influences on individual differences in attitudes toward homosexuality: an Australian twin study.

    PubMed

    Verweij, Karin J H; Shekar, Sri N; Zietsch, Brendan P; Eaves, Lindon J; Bailey, J Michael; Boomsma, Dorret I; Martin, Nicholas G

    2008-05-01

    Previous research has shown that many heterosexuals hold negative attitudes toward homosexuals and homosexuality (homophobia). Although a great deal of research has focused on the profile of homophobic individuals, this research provides little theoretical insight into the aetiology of homophobia. To examine genetic and environmental influences on variation in attitudes toward homophobia, we analysed data from 4,688 twins who completed a questionnaire concerning sexual behaviour and attitudes, including attitudes toward homosexuality. Results show that, in accordance with literature, males have significantly more negative attitudes toward homosexuality than females and non-heterosexuals are less homophobic than heterosexuals. In contrast with some earlier findings, age had no significant effect on the homophobia scores in this study. Genetic modelling showed that variation in homophobia scores could be explained by additive genetic (36%), shared environmental (18%) and unique environmental factors (46%). However, corrections based on previous findings show that the shared environmental estimate may be almost entirely accounted for as extra additive genetic variance arising from assortative mating for homophobic attitudes. The results suggest that variation in attitudes toward homosexuality is substantially inherited, and that social environmental influences are relatively minor.

  13. Additive genetic variance and developmental plasticity in growth trajectories in a wild cooperative mammal.

    PubMed

    Huchard, E; Charmantier, A; English, S; Bateman, A; Nielsen, J F; Clutton-Brock, T

    2014-09-01

    Individual variation in growth is high in cooperative breeders and may reflect plastic divergence in developmental trajectories leading to breeding vs. helping phenotypes. However, the relative importance of additive genetic variance and developmental plasticity in shaping growth trajectories is largely unknown in cooperative vertebrates. This study exploits weekly sequences of body mass from birth to adulthood to investigate sources of variance in, and covariance between, early and later growth in wild meerkats (Suricata suricatta), a cooperative mongoose. Our results indicate that (i) the correlation between early growth (prior to nutritional independence) and adult mass is positive but weak, and there are frequent changes (compensatory growth) in post-independence growth trajectories; (ii) among parameters describing growth trajectories, those describing growth rate (prior to and at nutritional independence) show undetectable heritability while associated size parameters (mass at nutritional independence and asymptotic mass) are moderately heritable (0.09 ≤ h(2) < 0.3); and (iii) additive genetic effects, rather than early environmental effects, mediate the covariance between early growth and adult mass. These results reveal that meerkat growth trajectories remain plastic throughout development, rather than showing early and irreversible divergence, and that the weak effects of early growth on adult mass, an important determinant of breeding success, are partly genetic. In contrast to most cooperative invertebrates, the acquisition of breeding status is often determined after sexual maturity and strongly impacted by chance in many cooperative vertebrates, who may therefore retain the ability to adjust their morphology to environmental changes and social opportunities arising throughout their development, rather than specializing early.

  14. Genetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism.

    PubMed

    Yu, Li; Wu, YiMing; Wu, Bai-Lin

    2015-10-01

    Autism spectrum disorder (ASD) is a spectral neurodevelopment disorder affecting approximately 1% of the population. ASD is characterized by impairments in reciprocal social interaction, communication deficits and restricted patterns of behavior. Multiple factors, including genetic/genomic, epigenetic/epigenomic and environmental, are thought to be necessary for autism development. Recent reviews have provided further insight into the genetic/genomic basis of ASD. It has long been suspected that epigenetic mechanisms, including DNA methylation, chromatin structures and long non-coding RNAs may play important roles in the pathology of ASD. In addition to genetic/genomic alterations and epigenetic/epigenomic influences, environmental exposures have been widely accepted as an important role in autism etiology, among which immune dysregulation and gastrointestinal microbiota are two prominent ones.

  15. Assessment of the environmental and genetic factors influencing prevalence of metabolic syndrome in Saudi Arabia

    PubMed Central

    Gosadi, Ibrahim M.

    2016-01-01

    Metabolic syndrome (MS) is a combination of factors that increases the risk of cardiovascular atherosclerotic diseases including diabetes, obesity, dyslipidemia, and high blood pressure. Cardiovascular diseases are one of the leading causes of death in the adult Saudi population where the increase in cardiovascular-related mortality is augmented by the rise in the prevalence of MS. Metabolic syndrome is a multi-factorial disorder influenced by interactions between genetic and environmental components. This review aims to provide a comprehensive assessment of studied environmental and genetic factors explaining the prevalence of MS in the Kingdom of Saudi Arabia. Additionally, this review aims to illustrate factors related to the population genetics of Saudi Arabia, which might explain a proportion of the prevalence of MS. PMID:26739969

  16. Genetic influences on the acquisition and inhibition of fear.

    PubMed

    Wendt, Julia; Neubert, Jörg; Lindner, Katja; Ernst, Florian D; Homuth, Georg; Weike, Almut I; Hamm, Alfons O

    2015-12-01

    As a variant of the Pavlovian fear conditioning paradigm the conditional discrimination design allows for a detailed investigation of fear acquisition and fear inhibition. Measuring fear-potentiated startle responses, we investigated the influence of two genetic polymorphisms (5-HTTLPR and COMT Val(158)Met) on fear acquisition and fear inhibition which are considered to be critical mechanisms for the etiology and maintenance of anxiety disorders. 5-HTTLPR s-allele carriers showed a more stable potentiation of the startle response during fear acquisition. Homozygous COMT Met-allele carriers, which had demonstrated delayed extinction in previous investigations, show deficient fear inhibition in presence of a learned safety signal. Thus, our results provide further evidence that 5-HTTLPR and COMT Val(158)Met genotypes influence the vulnerability for the development of anxiety disorders via different mechanisms.

  17. Genetic heterogeneity in HER2 testing may influence therapy eligibility.

    PubMed

    Bernasconi, Barbara; Chiaravalli, Anna Maria; Finzi, Giovanna; Milani, Katia; Tibiletti, Maria Grazia

    2012-05-01

    Prospective studies have demonstrated that approximately 20% of HER2 testing may be inaccurate. When carefully validated testing is conducted, available data do not clearly demonstrate the superiority of either IHC or fluorescence in situ hybridization (FISH) as a predictor of benefit from anti-HER2 therapy. In addition, the interpretation of the findings of HER2 tests according to international guidelines is not uniform. The American Society of Clinical Oncology (ASCO) and the College of American Pathologists (CAP) recently published practice guidelines for a definition of HER2 amplification heterogeneity that can give rise to discrepant results between IHC and FISH assays for HER2. In this article, we compare the HER2 status of 291 non consecutive breast cancers. The status is determined by both IHC and FISH approaches, using a specific FISH strategy to investigate genetic heterogeneity. Our data demonstrate that HER2 amplified cells may be found as diffuse, clustered in a specific area or section, intermingled with non-amplified cells or confined to metastatic nodules. The correct evaluation of ratio value in the presence of genetic heterogeneity and of polysomy contributes to the accurate assessment of HER2 status and potentially affects the selection of appropriate anti-HER2 therapy. By taking into account the presence of different genetic cell populations, the immunotherapy eligibility criteria for HER2 FISH scoring proposed in the CAP (2009) and SIGU guidelines identify an additional subset of cases for trastuzumab or lapatinib therapy compared to the ASCO/CAP (2007) guidelines.

  18. Common Genetic Factors Influence Hand Strength, Processing Speed, and Working Memory

    PubMed Central

    Ogata, Soshiro; Kato, Kenji; Honda, Chika; Hayakawa, Kazuo

    2014-01-01

    Background It is important to detect cognitive decline at an early stage, especially before onset of mild cognitive impairment and dementia. Processing speed and working memory are aspects of cognitive function that are associated with cognitive decline. Hand strength is an inexpensive, easily measurable indicator of cognitive decline. However, associations between hand strength, processing speed, and working memory have not been studied. In addition, the genetic and environmental structure of the association between hand strength and cognitive decline is unclear. We investigated phenotypic associations between hand strength, processing speed, and working memory and examined the genetic and environmental structure of the associations between phenotypes. Methods Hand strength, processing speed (digit symbol performance), and working memory (digit span performance) were examined in monozygotic and dizygotic twin pairs. Generalized estimating equations were used to identify phenotypic associations, and structural equation modeling was used to investigate the genetic and environmental structure of the association. Results Generalized estimating equations showed that hand strength was phenotypically associated with digit symbol performance but not with digit span performance. Structural equation modeling showed that common genetic factors influenced hand strength and digit symbol and digit span performance. Conclusions There was a phenotypic association between hand strength and processing speed. In addition, some genetic factors were common to hand strength, processing speed, and working memory. PMID:24292650

  19. Widespread evidence for non-additive genetic variation in Cloninger's and Eysenck's personality dimensions using a twin plus sibling design.

    PubMed

    Keller, Matthew C; Coventry, William L; Heath, Andrew C; Martin, Nicholas G

    2005-11-01

    Studies using the classical twin design often conclude that most genetic variation underlying personality is additive in nature. However, studies analyzing only twins are very limited in their ability to detect non-additive genetic variation and are unable to detect sources of variation unique to twins, which can mask non-additive genetic variation. The current study assessed 9672 MZ and DZ twin individuals and 3241 of their siblings to investigate the environmental and genetic architecture underlying eight dimensions of personality: four from Eysenck's Personality Questionnaire and four from Cloninger's Temperament and Character Inventory. Broad-sense heritability estimates from best-fitting models were two to three times greater than the narrow-sense heritability estimates for Harm Avoidance, Novelty Seeking, Reward Dependence, Persistence, Extraversion, and Neuroticism. This genetic non-additivity could be due to dominance, additive-by-additive epistasis, or to additive genetic effects combined with higher-order epistasis. Environmental effects unique to twins were detected for both Lie and Psychoticism but accounted for little overall variation. Our results illustrate the increased sensitivity afforded by extending the classical twin design to include siblings, and may provide clues to the evolutionary origins of genetic variation underlying personality.

  20. Perceived stress has genetic influences distinct from neuroticism and depression.

    PubMed

    Rietschel, Liz; Zhu, Gu; Kirschbaum, Clemens; Strohmaier, Jana; Wüst, Stefan; Rietschel, Marcella; Martin, Nicholas G

    2014-11-01

    The present study investigated whether the genetic determinants of neuroticism and depressive symptoms differ from those underlying perceived psychological stress. Multivariate structural equation models, which included age and sex as modifiers, were fitted to the total sample of 798 adolescents and young adults (female, n = 459; mean age 15.5 years). The sample included 139 monozygotic and 241 dizygotic twin pairs. Stress was measured using item response theory (IRT) scores, as derived from the Perceived Stress Scale and/or the Daily Life and Stressors Scale. Neuroticism was measured using the Neo-Five Factor Inventory or the Junior Eysenck Personality Questionnaire, depending on the age of the participant. Depressive symptoms were assessed using the IRT-scores of the Somatic and Psychological Health Report. The results suggest that the genetic effects underlying perceived psychological stress are largely shared with those that influence neuroticism and liability to depressive symptoms. However, separate genetic effects for perceived psychological stress that are not shared with neuroticism and depressive symptoms were also identified. The source of the identified trait specific effects requires further investigation.

  1. [Influence of genetic factors on human sexual orientation. Review].

    PubMed

    Rodríguez-Larralde, Alvaro; Paradisi, Irene

    2009-09-01

    Human sexual orientation is a complex trait, influenced by several genes, experiential and sociocultural factors. These elements interact and produce a typical pattern of sexual orientation towards the opposite sex. Some exceptions exist, like bisexuality and homosexuality, which seem to be more frequent in males than females. Traditional methods for the genetic study of behavior multifactorial characteristics consist in detecting the presence of familial aggregation. In order to identify the importance of genetic and environmental factors in this aggregation, the concordance of the trait for monozygotic and dizygotic twins and for adopted sibs, reared together and apart, is compared. These types of studies have shown that familial aggregation is stronger for male than for female homosexuality. Based on the threshold method for multifactorial traits, and varying the frequency of homosexuality in the population between 4 and 10%, heritability estimates between 0.27 and 0.76 have been obtained. In 1993, linkage between homosexuality and chromosomal region Xq28 based on molecular approaches was reported. Nevertheless, this was not confirmed in later studies. Recently, a wide search of the genome has given significant or close to significant linkage values with regions 7q36, 8p12 and 10q26, which need to be studied more closely. Deviation in the proportion of X chromosome inactivation in mothers of homosexuals seems to favor the presence of genes related with sexual orientation in this chromosome. There is still much to be known about the genetics of human homosexuality.

  2. Early Determinants of Obesity: Genetic, Epigenetic, and In Utero Influences

    PubMed Central

    Rhee, Kyung E.; Phelan, Suzanne; McCaffery, Jeanne

    2012-01-01

    There is an emerging body of work indicating that genes, epigenetics, and the in utero environment can impact whether or not a child is obese. While certain genes have been identified that increase one's risk for becoming obese, other factors such as excess gestational weight gain, gestational diabetes mellitus, and smoking can also influence this risk. Understanding these influences can help to inform which behaviors and exposures should be targeted if we are to decrease the prevalence of obesity. By helping parents and young children change certain behaviors and exposures during critical time periods, we may be able to alter or modify one's genetic predisposition. However, further research is needed to determine which efforts are effective at decreasing the incidence of obesity and to develop new methods of prevention. In this paper, we will discuss how genes, epigenetics, and in utero influences affect the development of obesity. We will then discuss current efforts to alter these influences and suggest future directions for this work. PMID:22701495

  3. Genetic and Environmental Influences on Negative Life Events from Late Childhood to Adolescence

    ERIC Educational Resources Information Center

    Johnson, Daniel P.; Rhee, Soo Hyun; Whisman, Mark A.; Corley, Robin P.; Hewitt, John K.

    2013-01-01

    This multiwave longitudinal study tested two quantitative genetic developmental models to examine genetic and environmental influences on exposure to negative dependent and independent life events. Participants (N = 457 twin pairs) completed measures of life events annually from ages 9 to 16. The same genetic factors influenced exposure to…

  4. Genetic and Environmental Influences on Sex-Typed Behavior During the Preschool Years

    ERIC Educational Resources Information Center

    Iervolino, Alessandra C.; Hines, Melissa; Golombok, Susan E.; Rust, John; Plomin, Robert

    2005-01-01

    The genetic and environmental etiologies of sex-typed behavior were examined during the preschool years in a sample of 3,990 three- to four-year-old twin and nontwin sibling pairs. Results showed moderate genetic and significant shared environmental influence for boys and substantial genetic and moderate shared environmental influence for girls.…

  5. Genetic Influence on Literacy Constructs in Kindergarten and First Grade: Evidence from a Diverse Twin Sample

    PubMed Central

    Schatschneider, Christopher

    2012-01-01

    Historically, twin research on reading has been conducted on older children and the generalizability of results across racial/ethnic/socioeconomic groups is unclear. To address these gaps, early literacy skills were examined among 1,401 twin pairs in kindergarten and 1,285 twin pairs in first grade (ages 5–7). A multi-group analysis was conducted separately for subsamples defined by neighborhood income while controlling for race/ethnicity within each grade. Substantial additive genetic and shared environmental effects were found for early literacy skills measured in kindergarten. In first grade, variance in early reading was associated with large additive genetic effects for middle and high neighborhood income twins, but shared environmental influence was substantial for low neighborhood income twins. Results suggest that the etiological architecture of some early literacy skills may differ across economic contexts. PMID:20563747

  6. Multi-taxa integrated landscape genetics for zoonotic infectious diseases: deciphering variables influencing disease emergence.

    PubMed

    Leo, Sarah S T; Gonzalez, Andrew; Millien, Virginie

    2016-05-01

    Zoonotic disease transmission systems involve sets of species interacting with each other and their environment. This complexity impedes development of disease monitoring and control programs that require reliable identification of spatial and biotic variables and mechanisms facilitating disease emergence. To overcome this difficulty, we propose a framework that simultaneously examines all species involved in disease emergence by integrating concepts and methods from population genetics, landscape ecology, and spatial statistics. Multi-taxa integrated landscape genetics (MTILG) can reveal how interspecific interactions and landscape variables influence disease emergence patterns. We test the potential of our MTILG-based framework by modelling the emergence of a disease system across multiple species dispersal, interspecific interaction, and landscape scenarios. Our simulations showed that both interspecific-dependent dispersal patterns and landscape characteristics significantly influenced disease spread. Using our framework, we were able to detect statistically similar inter-population genetic differences and highly correlated spatial genetic patterns that imply species-dependent dispersal. Additionally, species that were assigned coupled-dispersal patterns were affected to the same degree by similar landscape variables. This study underlines the importance of an integrated approach to investigating emergence of disease systems. MTILG is a robust approach for such studies and can identify potential avenues for targeted disease management strategies.

  7. Heritable influences on amygdala and orbitofrontal cortex contribute to genetic variation in core dimensions of personality.

    PubMed

    Lewis, G J; Panizzon, M S; Eyler, L; Fennema-Notestine, C; Chen, C-H; Neale, M C; Jernigan, T L; Lyons, M J; Dale, A M; Kremen, W S; Franz, C E

    2014-12-01

    While many studies have reported that individual differences in personality traits are genetically influenced, the neurobiological bases mediating these influences have not yet been well characterized. To advance understanding concerning the pathway from genetic variation to personality, here we examined whether measures of heritable variation in neuroanatomical size in candidate regions (amygdala and medial orbitofrontal cortex) were associated with heritable effects on personality. A sample of 486 middle-aged (mean=55 years) male twins (complete MZ pairs=120; complete DZ pairs=84) underwent structural brain scans and also completed measures of two core domains of personality: positive and negative emotionality. After adjusting for estimated intracranial volume, significant phenotypic (r(p)) and genetic (r(g)) correlations were observed between left amygdala volume and positive emotionality (r(p)=.16, p<.01; r(g)=.23, p<.05, respectively). In addition, after adjusting for mean cortical thickness, genetic and nonshared-environmental correlations (r(e)) between left medial orbitofrontal cortex thickness and negative emotionality were also observed (r(g)=.34, p<.01; r(e)=-.19, p<.05, respectively). These findings support a model positing that heritable bases of personality are, at least in part, mediated through individual differences in the size of brain structures, although further work is still required to confirm this causal interpretation.

  8. Genetic and Environmental Influences on the Growth of Early Reading Skills

    ERIC Educational Resources Information Center

    Petrill, Stephen A.; Hart, Sara A.; Harlaar, Nicole; Logan, Jessica; Justice, Laura M.; Schatschneider, Christopher; Thompson, Lee; DeThorne, Laura S.; Deater-Deckard, Kirby; Cutting, Laurie

    2010-01-01

    Background: Studies have suggested genetic and environmental influences on overall level of early reading whereas the larger reading literature has shown environmental influences on the rate of growth of early reading skills. This study is the first to examine the genetic and environmental influences on both initial level of performance and rate…

  9. A longitudinal study on genetic and environmental influences on leisure time physical activity in the Finnish Twin Cohort.

    PubMed

    Aaltonen, Sari; Ortega-Alonso, Alfredo; Kujala, Urho M; Kaprio, Jaakko

    2010-10-01

    The purpose of this study was to examine changes in the contribution of genetic and environmental influences to leisure time physical activity among male and female twins over a 6-year follow-up. At baseline the sample comprised 4,280 monozygotic and 9,276 dizygotic twin individuals, and at follow-up 4,383 monozygotic and 9,439 dizygotic twin individuals. Participants were aged 18-54 years at baseline. Genetic modeling results showed that genetic influences on leisure time physical activity declined from baseline (44%) to follow-up (34%). Most of the genetic influences identified at baseline were present at followup (r(g) = 0.72). Specific environmental influences increased from baseline (56%) to follow-up (66%) while at follow-up new environmental time-specific influences were observed (r(e) = 0.23). The model with sex differences showed a higher estimate of genetic influences for men than women both at baseline (men 47% vs. women 42%) and at follow-up (men 38% vs. women 31%). The additive genetic correlation for this phenotype was greater for men (r(g) = 0.79) than women (r(g) = 0.64). The specific environmental influences were corresponding; at baseline men 53% and women 56% and at follow-up men 62 % and women 69%. The environmental correlations between the two time points were similar for men (r(e)= 0.21) and for women (r(e)= 0.24). In conclusion, in a sample of healthy twins most of the genetic influences on leisure time physical activity expressed at baseline were present at 6 years of follow-up. New specific environmental factors underlying follow-up leisure time physical activity were observed.

  10. Very low levels of direct additive genetic variance in fitness and fitness components in a red squirrel population

    PubMed Central

    McFarlane, S Eryn; Gorrell, Jamieson C; Coltman, David W; Humphries, Murray M; Boutin, Stan; McAdam, Andrew G

    2014-01-01

    A trait must genetically correlate with fitness in order to evolve in response to natural selection, but theory suggests that strong directional selection should erode additive genetic variance in fitness and limit future evolutionary potential. Balancing selection has been proposed as a mechanism that could maintain genetic variance if fitness components trade off with one another and has been invoked to account for empirical observations of higher levels of additive genetic variance in fitness components than would be expected from mutation–selection balance. Here, we used a long-term study of an individually marked population of North American red squirrels (Tamiasciurus hudsonicus) to look for evidence of (1) additive genetic variance in lifetime reproductive success and (2) fitness trade-offs between fitness components, such as male and female fitness or fitness in high- and low-resource environments. “Animal model” analyses of a multigenerational pedigree revealed modest maternal effects on fitness, but very low levels of additive genetic variance in lifetime reproductive success overall as well as fitness measures within each sex and environment. It therefore appears that there are very low levels of direct genetic variance in fitness and fitness components in red squirrels to facilitate contemporary adaptation in this population. PMID:24963372

  11. Nitrogen addition and warming independently influence the belowground micro-food web in a temperate steppe.

    PubMed

    Li, Qi; Bai, Huahua; Liang, Wenju; Xia, Jianyang; Wan, Shiqiang; van der Putten, Wim H

    2013-01-01

    Climate warming and atmospheric nitrogen (N) deposition are known to influence ecosystem structure and functioning. However, our understanding of the interactive effect of these global changes on ecosystem functioning is relatively limited, especially when it concerns the responses of soils and soil organisms. We conducted a field experiment to study the interactive effects of warming and N addition on soil food web. The experiment was established in 2006 in a temperate steppe in northern China. After three to four years (2009-2010), we found that N addition positively affected microbial biomass and negatively influenced trophic group and ecological indices of soil nematodes. However, the warming effects were less obvious, only fungal PLFA showed a decreasing trend under warming. Interestingly, the influence of N addition did not depend on warming. Structural equation modeling analysis suggested that the direct pathway between N addition and soil food web components were more important than the indirect connections through alterations in soil abiotic characters or plant growth. Nitrogen enrichment also affected the soil nematode community indirectly through changes in soil pH and PLFA. We conclude that experimental warming influenced soil food web components of the temperate steppe less than N addition, and there was little influence of warming on N addition effects under these experimental conditions.

  12. Nitrogen Addition and Warming Independently Influence the Belowground Micro-Food Web in a Temperate Steppe

    PubMed Central

    Li, Qi; Bai, Huahua; Liang, Wenju; Xia, Jianyang; Wan, Shiqiang; van der Putten, Wim H.

    2013-01-01

    Climate warming and atmospheric nitrogen (N) deposition are known to influence ecosystem structure and functioning. However, our understanding of the interactive effect of these global changes on ecosystem functioning is relatively limited, especially when it concerns the responses of soils and soil organisms. We conducted a field experiment to study the interactive effects of warming and N addition on soil food web. The experiment was established in 2006 in a temperate steppe in northern China. After three to four years (2009–2010), we found that N addition positively affected microbial biomass and negatively influenced trophic group and ecological indices of soil nematodes. However, the warming effects were less obvious, only fungal PLFA showed a decreasing trend under warming. Interestingly, the influence of N addition did not depend on warming. Structural equation modeling analysis suggested that the direct pathway between N addition and soil food web components were more important than the indirect connections through alterations in soil abiotic characters or plant growth. Nitrogen enrichment also affected the soil nematode community indirectly through changes in soil pH and PLFA. We conclude that experimental warming influenced soil food web components of the temperate steppe less than N addition, and there was little influence of warming on N addition effects under these experimental conditions. PMID:23544140

  13. Infant Communicative Development: Evidence from Adoptive and Biological Families for Genetic and Environmental Influences on Rate Differences.

    ERIC Educational Resources Information Center

    Hardy-Brown, Karen; Plomin, Robert

    1985-01-01

    Parent/infant relationships were investigated among 50 biologically related families selected to provide a control group for an adoption study of rate differences in communicative development in infancy. In addition, a path analysis of genetic and environmental influences on communicative development is presented incorporating the overall sample.…

  14. Bone Response to Fluoride Exposure Is Influenced by Genetics

    PubMed Central

    Kobayashi, Cláudia A. N.; Leite, Aline L.; Peres-Buzalaf, Camila; Carvalho, Juliane G.; Whitford, Gary M.; Everett, Eric T.; Siqueira, Walter L.; Buzalaf, Marília A. R.

    2014-01-01

    Genetic factors influence the effects of fluoride (F) on amelogenesis and bone homeostasis but the underlying molecular mechanisms remain undefined. A label-free proteomics approach was employed to identify and evaluate changes in bone protein expression in two mouse strains having different susceptibilities to develop dental fluorosis and to alter bone quality. In vivo bone formation and histomorphometry after F intake were also evaluated and related to the proteome. Resistant 129P3/J and susceptible A/J mice were assigned to three groups given low-F food and water containing 0, 10 or 50 ppmF for 8 weeks. Plasma was evaluated for alkaline phosphatase activity. Femurs, tibiae and lumbar vertebrae were evaluated using micro-CT analysis and mineral apposition rate (MAR) was measured in cortical bone. For quantitative proteomic analysis, bone proteins were extracted and analyzed using liquid chromatography-electrospray ionization-tandem mass spectrometry (LC-ESI-MS/MS), followed by label-free semi-quantitative differential expression analysis. Alterations in several bone proteins were found among the F treatment groups within each mouse strain and between the strains for each F treatment group (ratio ≥1.5 or ≤0.5; p<0.05). Although F treatment had no significant effects on BMD or bone histomorphometry in either strain, MAR was higher in the 50 ppmF 129P3/J mice than in the 50 ppmF A/J mice treated with 50 ppmF showing that F increased bone formation in a strain-specific manner. Also, F exposure was associated with dose-specific and strain-specific alterations in expression of proteins involved in osteogenesis and osteoclastogenesis. In conclusion, our findings confirm a genetic influence in bone response to F exposure and point to several proteins that may act as targets for the differential F responses in this tissue. PMID:25501567

  15. Factors influencing stakeholders attitudes toward genetically modified aedes mosquito.

    PubMed

    Amin, Latifah; Hashim, Hasrizul

    2015-06-01

    Dengue fever is a debilitating and infectious disease that could be life-threatening. It is caused by the dengue virus which affects millions of people in the tropical area. Currently, there is no cure for the disease as there is no vaccine available. Thus, prevention of the vector population using conventional methods is by far the main strategy but has been found ineffective. A genetically modified (GM) mosquito is among the favoured alternatives to curb dengue fever in Malaysia. Past studies have shown that development and diffusion of gene technology products depends heavily upon public acceptance. The purpose of this study is to identify the relevant factors influencing stakeholders' attitudes toward the GM Aedes mosquito and to analyse the relationships between all the factors using the structural equation model. A survey was carried out on 509 respondents from various stakeholder groups in the Klang Valley region of Malaysia. Results of the survey have confirmed that public perception towards complex issues such as gene technology should be seen as a multi-faceted process. The perceived benefit-perceived risk balance is very important in determining the most predominant predictor of attitudes toward a GM mosquito. In this study the stakeholders perceived the benefit of the GM mosquito as outweighing its risk, translating perceived benefit as the most important direct predictor of attitudes toward the GM mosquito. Trust in key players has a direct influence on attitudes toward the GM mosquito while moral concern exhibited an indirect influence through perceived benefits. Other factors such as attitudes toward technology and nature were also indirect predictors of attitudes toward the GM mosquito while religiosity and engagement did not exhibited any significant roles. The research findings serve as a useful database to understand public acceptance and the social construct of public attitudes towards the GM mosquito to combat dengue.

  16. Genetic and pharmacological factors that influence reproductive aging in nematodes.

    PubMed

    Hughes, Stacie E; Evason, Kimberley; Xiong, Chengjie; Kornfeld, Kerry

    2007-02-16

    Age-related degenerative changes in the reproductive system are an important aspect of aging, because reproductive success is the major determinant of evolutionary fitness. Caenorhabditis elegans is a prominent organism for studies of somatic aging, since many factors that extend adult lifespan have been identified. However, mechanisms that control reproductive aging in nematodes or other animals are not well characterized. To use C. elegans to measure reproductive aging, we analyzed mated hermaphrodites that do not become sperm depleted and monitored the duration and level of progeny production. Mated hermaphrodites display a decline of progeny production that culminates in reproductive cessation before the end of the lifespan, demonstrating that hermaphrodites undergo reproductive aging. To identify factors that influence reproductive aging, we analyzed genetic, environmental, and pharmacological factors that extend lifespan. Dietary restriction and reduced insulin/insulin-like growth factor signaling delayed reproductive aging, indicating that nutritional status and a signaling pathway that responds to environmental stress influence reproductive aging. Cold temperature delayed reproductive aging. The anticonvulsant medicine ethosuximide, which affects neural activity, delayed reproductive aging, indicating that neural activity can influence reproductive aging. Some of these factors decrease early progeny production, but there is no consistent relationship between early progeny production and reproductive aging in strains with an extended lifespan. To directly examine the effects of early progeny production on reproductive aging, we used sperm availability to modulate the level of early reproduction. Early progeny production neither accelerated nor delayed reproductive aging, indicating that reproductive aging is not controlled by use-dependent mechanisms. The implications of these findings for evolutionary theories of aging are discussed.

  17. Toxicological safety assessment of genetically modified Bacillus thuringiensis with additional N-acyl homoserine lactonase gene.

    PubMed

    Peng, Donghai; Zhou, Chenfei; Chen, Shouwen; Ruan, Lifang; Yu, Ziniu; Sun, Ming

    2008-01-01

    The aim of the present study is to evaluate the toxicology safety to mammals of a genetically modified (GM) Bacillus thuringiensis with an additional N-acyl homoserine lactones gene (aiiA), which possesses insecticidal activity together with restraint of bacterial pathogenicity and is intended for use as a multifunctional biopesticide. Safety assessments included an acute oral toxicity test and 28-d animal feeding study in Wistar rats, primary eye and dermal irritation in Zealand White rabbits, and delayed contact hypersensitivity in guinea pigs. Tests were conducted using spray-dried powder preparation. This GM product showed toxicity neither in oral acute toxicity test nor in 28-d animal feeding test at a dose of 5,000 mg/kg body weight. During the animal feeding test, there were no significant differences in growth, food and water consumption, hematology, blood biochemical indices, organ weights, and histopathology finding between rats in controls and tested groups. Tested animals in primary eye and dermal irritation and delayed contact hypersensitivity test were also devoid of any toxicity compared to controls. All the above results demonstrated that the GM based multifunctional B. thuringiensis has low toxicity and low eye and dermal irritation and would not cause hypersensitivity to laboratory mammals and therefore could be regarded as safe for use as a pesticide.

  18. [Genetic polymorphisms commonly influencing efficacy of diverse addictive substances].

    PubMed

    Nishizawa, Daisuke; Ikeda, Kazutaka

    2014-04-01

    Opioids, such as morphine and fentanyl, are widely used as effective analgesics for the treatment of acute and chronic pain. In addition, the opioid system has a key role in the rewarding effects of morphine, ethanol, cocaine and various other drugs. The authors have focused on G-protein-activated inwardly rectifying potassium (GIRK) channel subunits, GIRK2 and GIRK3, that are important molecules in opioid transmission, and found that the single-nucleotide polymorphisms (SNPs) within the GIRK2 and GIRK3 gene regions were significantly associated with postoperative requirements of analgesics including opioids in patients who underwent abdominal surgery and mRNA expression of these genes in postmortem specimens, one of which was also associated with vulnerability to methamphetamine (METH) dependence. Further, by conducting a multistage genome-wide association study (GWAS) in healthy subjects, the authors found that genetic polymorphisms within a linkage disequilibrium block that spans 2q33.3-2q34 were strongly associated with the requirements for postoperative opioid analgesics after painful cosmetic surgery. The C allele of the best candidate SNP, rs2952768, was associated with more analgesic requirements, and consistent results were obtained in patients who underwent abdominal surgery. In addition, carriers of the C allele in this SNP exhibited less vulnerability to severe drug dependence in patients with methamphetamine dependence, alcohol dependence, and eating disorders and a lower 'Reward Dependence score on a personality questionnaire in healthy subjects. Furthermore, the C/C genotype of this SNP was significantly associated with the elevated expression of a neighboring gene, CREB1. The results show that SNPs in this locus are the most potent genetic factors associated with human opioid sensitivity known to date, affecting both the efficacy of opioid analgesics and liability to severe substance dependence. These outcomes provide valuable information for the

  19. Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants.

    PubMed

    Pilling, Luke C; Atkins, Janice L; Bowman, Kirsty; Jones, Samuel E; Tyrrell, Jessica; Beaumont, Robin N; Ruth, Katherine S; Tuke, Marcus A; Yaghootkar, Hanieh; Wood, Andrew R; Freathy, Rachel M; Murray, Anna; Weedon, Michael N; Xue, Luting; Lunetta, Kathryn; Murabito, Joanne M; Harries, Lorna W; Robine, Jean-Marie; Brayne, Carol; Kuchel, George A; Ferrucci, Luigi; Frayling, Timothy M; Melzer, David

    2016-03-01

    Variation in human lifespan is 20 to 30% heritable in twins but few genetic variants have been identified. We undertook a Genome Wide Association Study (GWAS) using age at death of parents of middle-aged UK Biobank participants of European decent (n=75,244 with father's and/or mother's data, excluding early deaths). Genetic risk scores for 19 phenotypes (n=777 proven variants) were also tested. In GWAS, a nicotine receptor locus(CHRNA3, previously associated with increased smoking and lung cancer) was associated with fathers' survival. Less common variants requiring further confirmation were also identified. Offspring of longer lived parents had more protective alleles for coronary artery disease, systolic blood pressure, body mass index, cholesterol and triglyceride levels, type-1 diabetes, inflammatory bowel disease and Alzheimer's disease. In candidate analyses, variants in the TOMM40/APOE locus were associated with longevity, but FOXO variants were not. Associations between extreme longevity (mother >=98 years, fathers >=95 years, n=1,339) and disease alleles were similar, with an additional association with HDL cholesterol (p=5.7x10-3). These results support a multiple protective factors model influencing lifespan and longevity (top 1% survival) in humans, with prominent roles for cardiovascular-related pathways. Several of these genetically influenced risks, including blood pressure and tobacco exposure, are potentially modifiable.

  20. Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants

    PubMed Central

    Pilling, Luke C.; Atkins, Janice L.; Bowman, Kirsty; Jones, Samuel E.; Tyrrell, Jessica; Beaumont, Robin N.; Ruth, Katherine S.; Tuke, Marcus A.; Yaghootkar, Hanieh; Wood, Andrew R.; Freathy, Rachel M.; Murray, Anna; Weedon, Michael N.; Xue, Luting; Lunetta, Kathryn; Murabito, Joanne M.; Harries, Lorna W.; Robine, Jean-Marie; Brayne, Carol; Kuchel, George A.; Ferrucci, Luigi; Frayling, Timothy M.; Melzer, David

    2016-01-01

    Variation in human lifespan is 20 to 30% heritable in twins but few genetic variants have been identified. We undertook a Genome Wide Association Study (GWAS) using age at death of parents of middle-aged UK Biobank participants of European decent (n=75,244 with father's and/or mother's data, excluding early deaths). Genetic risk scores for 19 phenotypes (n=777 proven variants) were also tested. In GWAS, a nicotine receptor locus (CHRNA3, previously associated with increased smoking and lung cancer) was associated with fathers' survival. Less common variants requiring further confirmation were also identified. Offspring of longer lived parents had more protective alleles for coronary artery disease, systolic blood pressure, body mass index, cholesterol and triglyceride levels, type-1 diabetes, inflammatory bowel disease and Alzheimer's disease. In candidate analyses, variants in the TOMM40/APOE locus were associated with longevity, but FOXO variants were not. Associations between extreme longevity (mother >=98 years, fathers >=95 years, n=1,339) and disease alleles were similar, with an additional association with HDL cholesterol (p=5.7×10-3). These results support a multiple protective factors model influencing lifespan and longevity (top 1% survival) in humans, with prominent roles for cardiovascular-related pathways. Several of these genetically influenced risks, including blood pressure and tobacco exposure, are potentially modifiable. PMID:27015805

  1. Is the Child "Father of the Man"? Evaluating the Stability of Genetic Influences across Development

    ERIC Educational Resources Information Center

    Ronald, Angelica

    2011-01-01

    This selective review considers findings in genetic research that have shed light on how genes operate across development. We will address the question of whether the child is "father of the Man" from a genetic perspective. In other words, do the same genetic influences affect the same traits across development? Using a "taster menu" approach and…

  2. Influence of genetic and environmental factors on oral diseases and function in aged twins.

    PubMed

    Kurushima, Y; Ikebe, K; Matsuda, K; Enoki, K; Ogata, S; Yamashita, M; Murakami, S; Hayakawa, K; Maeda, Y

    2015-01-01

    This study was conducted to quantify the genetic and environmental contributions to oral disease and function in twins. Participants were middle-aged and old twins, 116 monozygotic and 16 dizygotic pairs whose mean age was 66·1 ± 10·3 (SD) years. Number of teeth, percentage of decayed, filled and missing teeth and periodontal status were recorded as indicators of oral disease. The widths of upper and lower dental arch served as indicators of morphological figures. Furthermore, stimulated salivary flow rate, occlusal force and masticatory performance were measured as indicators of oral function. Univariate genetic analysis with monozygotic and dizygotic twin pairs was conducted to detect the fittest structural equation model of each outcome. Both number of teeth and periodontal status fitted the model composed of common environmental factor and unique environmental factor. Decayed, filled and missing teeth, morphological figures and measurements of oral function fitted the model composed of additive genetic factor and unique environmental factor. The model fitting of each measurement suggested that periodontal disease was mainly affected by environmental factors, while morphological figures and oral functions were influenced by both genetic and environmental factors.

  3. [Questions safety and tendency of using genetically modified microorganisms in food, food additives and food derived].

    PubMed

    Khovaev, A A

    2008-01-01

    In this article analysis questions of using genetically modified microorganisms in manufacture food production, present new GMM used in manufacture -food ferments; results of medical biological appraisal/ microbiological and genetic expert examination/ of food, getting by use microorganisms or there producents with indication modern of control methods.

  4. Choice of Reading Comprehension Test Influences the Outcomes of Genetic Analyses

    ERIC Educational Resources Information Center

    Betjemann, Rebecca S.; Keenan, Janice M.; Olson, Richard K.; DeFries, John C.

    2011-01-01

    Does the choice of test for assessing reading comprehension influence the outcome of genetic analyses? A twin design compared two types of reading comprehension tests classified as primarily associated with word decoding (RC-D) or listening comprehension (RC-LC). For both types of tests, the overall genetic influence is high and nearly identical.…

  5. Genetic evidence for chromosome 4 loci influencing learning and memory.

    PubMed

    Anselmi, Mayara; Correa, Fernanda Junkes; Santos, José Ronaldo; Silva, Anatildes Feitosa; Cunha, João Antônio; Leão, Anderson Henrique Figueiredo; Campêlo, Clarissa Loureiro Chagas; Ribeiro, Alessandra Mussi; Silva, Regina Helena; Izídio, Geison Souza

    2016-05-01

    The Lewis (LEW) and SHR (Spontaneously Hypertensive Rats) inbred rat strains differ in several anxiety/emotionality and learning/memory-related behaviors. We aimed to search quantitative trait locus (QTL) that influence these behaviors and confirm their effects in a congenic rat strain SLA16 (SHR.LEW.Anxrr16). LEW females and SHR males were intercrossed to produce F2 rats (96/sex), which were all tested in the plus-maze discriminative avoidance task (PMDAT), open-field (OF), object recognition (OR), spontaneous alternation (SA) and fear conditioning (FC). All animals were genotyped for microsatellite markers located on chromosome (Chr) 4. Behavioral and genotypic data were used to perform factor and QTL analyses. Also, to confirm the QTL effects, we tested male and female SLA16 rats and their isogenic control SHR in the same behavioral tests. A factor analysis of the F2 population revealed a correlation between anxiety/emotionality related behaviors and learning/memory in both sexes. QTL analysis revealed two significant QTL in males and three in females, on behavioral parameters in the PMDAT, OF and FC. Four QTL found herein were confirmed in SLA16 rats. The SLA16 strain displayed lower levels of anxiety/emotionality, higher locomotor activity and deficits in learning/memory in comparison with SHR strain. The Chr 4 contains genes influencing anxiety/emotionality and learning/memory behaviors and the SLA16 strain represents a valuable tool in the search for them. The use of the SLA16 strain as a genetic model for studying behavioral phenomena and their implications for psychiatric disorders are discussed.

  6. Planning additional drilling campaign using two-space genetic algorithm: A game theoretical approach

    NASA Astrophysics Data System (ADS)

    Kumral, Mustafa; Ozer, Umit

    2013-03-01

    Grade and tonnage are the most important technical uncertainties in mining ventures because of the use of estimations/simulations, which are mostly generated from drill data. Open pit mines are planned and designed on the basis of the blocks representing the entire orebody. Each block has different estimation/simulation variance reflecting uncertainty to some extent. The estimation/simulation realizations are submitted to mine production scheduling process. However, the use of a block model with varying estimation/simulation variances will lead to serious risk in the scheduling. In the medium of multiple simulations, the dispersion variances of blocks can be thought to regard technical uncertainties. However, the dispersion variance cannot handle uncertainty associated with varying estimation/simulation variances of blocks. This paper proposes an approach that generates the configuration of the best additional drilling campaign to generate more homogenous estimation/simulation variances of blocks. In other words, the objective is to find the best drilling configuration in such a way as to minimize grade uncertainty under budget constraint. Uncertainty measure of the optimization process in this paper is interpolation variance, which considers data locations and grades. The problem is expressed as a minmax problem, which focuses on finding the best worst-case performance i.e., minimizing interpolation variance of the block generating maximum interpolation variance. Since the optimization model requires computing the interpolation variances of blocks being simulated/estimated in each iteration, the problem cannot be solved by standard optimization tools. This motivates to use two-space genetic algorithm (GA) approach to solve the problem. The technique has two spaces: feasible drill hole configuration with minimization of interpolation variance and drill hole simulations with maximization of interpolation variance. Two-space interacts to find a minmax solution

  7. Genetic and environmental influences on the longitudinal structure of neuroticism: a trait-state approach.

    PubMed

    Laceulle, Odilia M; Ormel, Johan; Aggen, Steven H; Neale, Michael C; Kendler, Kenneth S

    2013-09-01

    In this study, we sought to elucidate both stable and changing factors in the longitudinal structure of neuroticism using a behavioral genetic twin design. We tested whether this structure is best accounted for by a trait-state, a trait-only, or a state-only model. In line with classic views on personality, our results revealed substantial trait and state components. The contributions of genetic and environmental influences on the trait component were nearly equal, whereas environmental influences on the state component were much stronger than genetic influences. Although the overall findings were similar for older and younger twins, genetic influences on the trait component were stronger than environmental influences in younger twins, whereas the opposite was found for older twins. The current findings help to elucidate how the complex interplay between genetic and environmental factors contributes to both stability and change in neuroticism.

  8. Discovery of a Novel Seminal Fluid Microbiome and Influence of Estrogen Receptor Alpha Genetic Status

    PubMed Central

    Javurek, Angela B.; Spollen, William G.; Ali, Amber M. Mann; Johnson, Sarah A.; Lubahn, Dennis B.; Bivens, Nathan J.; Bromert, Karen H.; Ellersieck, Mark R.; Givan, Scott A.; Rosenfeld, Cheryl S.

    2016-01-01

    Bacteria harbored in the male reproductive system may influence reproductive function and health of the male and result in developmental origins of adult health and disease (DOHaD) effects in his offspring. Such effects could be due to the seminal fluid, which is slightly basic and enriched with carbohydrates; thereby, creating an ideal habitat for microbes or a potential seminal fluid microbiome (SFM). Using wild-type (WT) and estrogen receptor-alpha (ESR1) knockout (KO) male mice, we describe a unique SFM whose inhabitants differ from gut microbes. The bacterial composition of the SFM is influenced according to whether mice have functional Esr1 genes. Propionibacterium acnes, causative agent of chronic prostatitis possibly culminating in prostate cancer, is reduced in SFM of ESR1 KO compared to WT mice (P ≤ 0.0007). In certain genetic backgrounds, WT mice show a greater incidence of prostate cancer than ESR1 KO, which may be due to increased abundance of P. acnes. Additionally, select gut microbiome residents in ESR1 KO males, such as Lachnospiraceae and Christensenellaceae, might contribute to previously identified phenotypes, especially obesity, in these mutant mice. Understanding how genetics and environmental factors influence the SFM may provide the next frontier in male reproductive disorders and possibly paternal-based DOHaD diseases. PMID:26971397

  9. Genetic and environmental influences on writing and their relations to language and reading.

    PubMed

    Olson, Richard K; Hulslander, Jacqueline; Christopher, Micaela; Keenan, Janice M; Wadsworth, Sally J; Willcutt, Erik G; Pennington, Bruce F; DeFries, John C

    2013-04-01

    Identical and fraternal twins (N=540, age 8 to 18 years) were tested on three different measures of writing (Woodcock-Johnson III Tests of Achievement-Writing Samples and Writing Fluency; Handwriting Copy from the Group Diagnostic Reading and Aptitude Achievement Tests), three different language skills (phonological awareness, rapid naming, and vocabulary), and three different reading skills (word recognition, spelling, and reading comprehension). Substantial genetic influence was found on two of the writing measures, writing samples and handwriting copy, and all of the language and reading measures. Shared environment influences were generally not significant, except for Vocabulary. Non-shared environment estimates, including measurement error, were significant for all variables. Genetic influences among the writing measures were significantly correlated (highest between the speeded measures writing fluency and handwriting copy), but there were also significant independent genetic influences between copy and samples and between fluency and samples. Genetic influences on writing were significantly correlated with genetic influences on all of the language and reading skills, but significant independent genetic influences were also found for copy and samples, whose genetic correlations were significantly less than 1.0 with the reading and language skills. The genetic correlations varied significantly in strength depending on the overlap between the writing, language, and reading task demands. We discuss implications of our results for education, limitations of the study, and new directions for research on writing and its relations to language and reading.

  10. Landscape genetics in a changing world: disentangling historical and contemporary influences and inferring change.

    PubMed

    Epps, Clinton W; Keyghobadi, Nusha

    2015-12-01

    Landscape genetics seeks to determine the effect of landscape features on gene flow and genetic structure. Often, such analyses are intended to inform conservation and management. However, depending on the many factors that influence the time to reach equilibrium, genetic structure may more strongly represent past rather than contemporary landscapes. This well-known lag between current demographic processes and population genetic structure often makes it challenging to interpret how contemporary landscapes and anthropogenic activity shape gene flow. Here, we review the theoretical framework for factors that influence time lags, summarize approaches to address this temporal disconnect in landscape genetic studies, and evaluate ways to make inferences about landscape change and its effects on species using genetic data alone or in combination with other data. Those approaches include comparing correlation of genetic structure with historical versus contemporary landscapes, using molecular markers with different rates of evolution, contrasting metrics of genetic structure and gene flow that reflect population genetic processes operating at different temporal scales, comparing historical and contemporary samples, combining genetic data with contemporary estimates of species distribution or movement, and controlling for phylogeographic history. We recommend using simulated data sets to explore time lags in genetic structure, and argue that time lags should be explicitly considered both when designing and interpreting landscape genetic studies. We conclude that the time lag problem can be exploited to strengthen inferences about recent landscape changes and to establish conservation baselines, particularly when genetic data are combined with other data.

  11. Influence of graphite flake addition to sediment on electrogenesis in a sediment-type fuel cell.

    PubMed

    Lenin Babu, M; Venkata Mohan, S

    2012-04-01

    Graphite flakes at levels of 5%, 15%, 20% and 40% (weight per sediment volume) were added to lake bed sediment and electrogenesis in a sediment-type fuel cell was evaluated. Addition of graphite flakes by 20% to the sediment showed higher electrogenic activity of the fuel cell (578mV; 0.37mW) compared to control (304mV; 0.26mW). Further increment in the graphite loading showed a negative influence on the fuel cell behavior. A higher energy and capacitance were recorded with 20% addition of graphite flakes compared to the control. Increase in the exchange current density and decrease in the Tafel slope and electron transfer coefficient was observed with addition of graphite flakes. Apparent surface coverage analysis also supported the higher performance upon addition of 20% graphite flakes. The relative increase in the conductivity of bed due to addition of graphite flakes might be the reason for observed electrogenic activity. Marginal variation in the substrate utilization ( [Formula: see text] 50-55%) was observed with the addition of graphite flakes. By adding an optimum level of graphite flakes to sediment influences the fuel cell performance.

  12. Influence of Parental Depressive Symptoms on Adopted Toddler Behaviors: An Emerging Developmental Cascade of Genetic and Environmental Effects

    PubMed Central

    Pemberton, Caroline K.; Neiderhiser, Jenae M.; Leve, Leslie D.; Natsuaki, Misaki N.; Shaw, Daniel S.; Reiss, David; Ge, Xiaojia

    2011-01-01

    This study examined the developmental cascade of both genetic and environmental influences on toddlers’ behavior problems through the longitudinal and multi-generational assessment of psychosocial risk. We used data from the Early Growth and Development Study, a prospective adoption study, to test the intergenerational transmission of risk through the assessment of adoptive mother, adoptive father, and biological parent depressive symptoms on toddler behavior problems. Given that depression is often chronic, we control for across-time continuity and find that in addition to associations between adoptive mother depressive symptoms and toddler externalizing problems, adoptive father depressive symptoms when the child is 9-months of age were associated with toddler problems and associated with maternal depressive symptoms. Findings also indicated that a genetic effect may indirectly influence toddler problems through prenatal pregnancy risk. These findings help to describe how multiple generations are linked through genetic (biological parent), timing (developmental age of the child), and contextual (marital partner) pathways. PMID:20883583

  13. Influence of genetic abnormalities on semen quality and male fertility: A four-year prospective study

    PubMed Central

    Elfateh, Fadlalla; Wang, Ruixue; Zhang, Zhihong; Jiang, Yuting; Chen, Shuang; Liu, Ruizhi

    2014-01-01

    Background: Wide range of disorders ranging from genetic disorders to coital difficulties can influence male fertility. In this regard, genetic factors are highlighted as the most frequent, contributed to 10-15%, of male infertility causes. Objective: To investigate the influence of genetic abnormalities on semen quality and reproductive hormone levels of infertile men from Northeast China. Materials and Methods: 2034 infertile men including 691 patients with abnormal sperm parameters were investigated retrospectively. Semen analysis was performed according to the World Health Organization guidelines. Y chromosome micro deletions were detected by polymerase chain reaction assays. Chromosome analysis was performed using G-banding. Results: The incidence of abnormal chromosomal karyotype in the patients with abnormal sperm parameters was 12.01% (83/691). The most frequent cause was Klinefelter's syndrome 37.35% (31/83). As the same as chromosomal abnormalities group, the volumes of testes (p=0.000 and 0.000, respectively) and the levels of testosterone (T) (p=0.000), and testosterone/ luteinizing hormone (T/LH) (p=0.000) of patients with Y chromosome micro deletions were significantly lower than those of fertile group. In addition, the levels of follicle-stimulating hormone (FSH) (p=0.000), and luteinizing hormone (LH) (p=0.000) were significantly higher in patients with Y chromosome micro deletions than those in the fertile group. Translocation abnormalities displayed slight effect on sperm motility. Conclusion: Y chromosome micro deletions and sex chromosome disorders particularly Klinefelter’s (47, XXY), have severe adverse influence on normal hormone levels, testicular volume and sperm count, whereas translocation abnormalities may inversely correlate with sperm motility. PMID:24799866

  14. Race influences warfarin dose changes associated with genetic factors.

    PubMed

    Limdi, Nita A; Brown, Todd M; Yan, Qi; Thigpen, Jonathan L; Shendre, Aditi; Liu, Nianjun; Hill, Charles E; Arnett, Donna K; Beasley, T Mark

    2015-07-23

    Warfarin dosing algorithms adjust for race, assigning a fixed effect size to each predictor, thereby attenuating the differential effect by race. Attenuation likely occurs in both race groups but may be more pronounced in the less-represented race group. Therefore, we evaluated whether the effect of clinical (age, body surface area [BSA], chronic kidney disease [CKD], and amiodarone use) and genetic factors (CYP2C9*2, *3, *5, *6, *11, rs12777823, VKORC1, and CYP4F2) on warfarin dose differs by race using regression analyses among 1357 patients enrolled in a prospective cohort study and compared predictive ability of race-combined vs race-stratified models. Differential effect of predictors by race was assessed using predictor-race interactions in race-combined analyses. Warfarin dose was influenced by age, BSA, CKD, amiodarone use, and CYP2C9*3 and VKORC1 variants in both races, by CYP2C9*2 and CYP4F2 variants in European Americans, and by rs12777823 in African Americans. CYP2C9*2 was associated with a lower dose only among European Americans (20.6% vs 3.0%, P < .001) and rs12777823 only among African Americans (12.3% vs 2.3%, P = .006). Although VKORC1 was associated with dose decrease in both races, the proportional decrease was higher among European Americans (28.9% vs 19.9%, P = .003) compared with African Americans. Race-stratified analysis improved dose prediction in both race groups compared with race-combined analysis. We demonstrate that the effect of predictors on warfarin dose differs by race, which may explain divergent findings reported by recent warfarin pharmacogenetic trials. We recommend that warfarin dosing algorithms should be stratified by race rather than adjusted for race.

  15. The influence of host genetics on Marek's disease virus evolution.

    PubMed

    Hunt, Henry D; Dunn, John R

    2013-06-01

    Since the first report of a polyneuritis in chickens by Joseph Marek in 1907, the clinical nature of the disease has changed. Over the last five decades, the pathogenicity of the Marek's disease virus (MDV) has continued to evolve from the relatively mild strains observed in the 1960s to the more severe strains labeled very virulent plus currently observed in today's outbreaks. To understand the influence of host genetics, specifically the major histocompatibility complex (MHC), on virus evolution, a bacterial artificial chromosome-derived MDV (Md5B40BAC) was passed in vivo through resistant (MHC-B21) and susceptible (MHC-B13) Line 0 chickens. Criteria for selecting virus isolates for in vivo passage were based on virus replication in white blood cells 21 days after challenge and evaluation of MD pathology at necropsy. In the MHC-B13-susceptible line the Md5B40BAC virulence consistently increased from 18% Marek's disease (MD) after in vivo passage 1 (B13-IVP1 Md5B40BAC) to 94% MD after B13-IVP5 Md5B40BAC challenge. In the MHC-B21-resistant line MD virulence fluctuated from 28% at B21-IVP1 Md5B40BAC to a high of 65% in B21-IVP2 Md5B40BAC back to a low of 23% in B21-IVP5 Md5B40BAC-challenged chicks. Although the B21-IVP5 Md5B40BAC isolates were relatively mild in the MHC-B21 chicken line (56% MDV), they were highly virulent in the MHC-B13 line (100% MDV). From this series of experiments it would appear that MDV evolution toward greater virulence occurs in both susceptible and resistant MHC haplotypes, but the resulting increase in pathogenicity is constrained by the resistant MHC haplotype.

  16. The Multi-allelic Genetic Architecture of a Variance-Heterogeneity Locus for Molybdenum Concentration in Leaves Acts as a Source of Unexplained Additive Genetic Variance

    PubMed Central

    Forsberg, Simon K. G.; Andreatta, Matthew E.; Huang, Xin-Yuan; Danku, John; Salt, David E.; Carlborg, Örjan

    2015-01-01

    Genome-wide association (GWA) analyses have generally been used to detect individual loci contributing to the phenotypic diversity in a population by the effects of these loci on the trait mean. More rarely, loci have also been detected based on variance differences between genotypes. Several hypotheses have been proposed to explain the possible genetic mechanisms leading to such variance signals. However, little is known about what causes these signals, or whether this genetic variance-heterogeneity reflects mechanisms of importance in natural populations. Previously, we identified a variance-heterogeneity GWA (vGWA) signal for leaf molybdenum concentrations in Arabidopsis thaliana. Here, fine-mapping of this association reveals that the vGWA emerges from the effects of three independent genetic polymorphisms that all are in strong LD with the markers displaying the genetic variance-heterogeneity. By revealing the genetic architecture underlying this vGWA signal, we uncovered the molecular source of a significant amount of hidden additive genetic variation or “missing heritability”. Two of the three polymorphisms underlying the genetic variance-heterogeneity are promoter variants for Molybdate transporter 1 (MOT1), and the third a variant located ~25 kb downstream of this gene. A fourth independent association was also detected ~600 kb upstream of MOT1. Use of a T-DNA knockout allele highlights Copper Transporter 6; COPT6 (AT2G26975) as a strong candidate gene for this association. Our results show that an extended LD across a complex locus including multiple functional alleles can lead to a variance-heterogeneity between genotypes in natural populations. Further, they provide novel insights into the genetic regulation of ion homeostasis in A. thaliana, and empirically confirm that variance-heterogeneity based GWA methods are a valuable tool to detect novel associations of biological importance in natural populations. PMID:26599497

  17. Influence of lignin addition on the enzymatic digestibility of pretreated lignocellulosic biomasses.

    PubMed

    Wang, Wangxia; Zhu, Yangsu; Du, Jing; Yang, Yiqin; Jin, Yongcan

    2015-04-01

    The presence of lignin in lignocellulosic biomass is correlated with its enzymatic digestibility. Their correlation and mechanism have been investigated widely but have not been elucidated clearly. In this study, hydrophilic sulfonated lignin and hydrophobic kraft lignin were introduced into the enzymatic hydrolysis process to investigate their effects on the enzymatic digestibility of different pretreated lignocellulose. The influence of lignin addition on the enzymatic digestibility varied with both introduced lignin type and the pretreatment methods of substrates. Slight enhancement of enzymatic hydrolysis was observed for all substrates by adding kraft lignin. The addition of sulfonated lignin could effectively improve the enzymatic digestibility of green liquor and acidic bisulfite pretreated materials, but had little effect on sulfite-formaldehyde pretreated samples. The enzymatic digestibility of green liquor pretreated masson pine increased from 42% without lignin addition to 75% with 0.3g/g-substrate sulfonated lignin addition.

  18. The influence of additives on beer stability investigated by EPR spectroscopy

    NASA Astrophysics Data System (ADS)

    Brezová, Vlasta; Polovka, Martin; Staško, Andrej

    2002-04-01

    In thermally-accelerated aging followed by EPR spectroscopy of beer samples of various stabilities, free radical 4-hydroxy-2,2,6,6-tetramethyl-1-piperidinyloxy (TEMPOL) was shown to be an effective indicator of the breakdown of a sample's stability, comparable to the commonly used spin trapping agent α-phenyl- N- tert-butylnitrone (PBN). Both indicators were then employed to investigate the influence of additives on beer stability. The addition of L-ascorbic acid (ASC) to the beer samples accelerated the radical processes and a lower stability was found. DL-α-tocopherol (α-TOC) did not influence beer stability significantly (probably due to its limited solubility). Na 2SO 3, described as a very effective stabilizer in experiments with the PBN spin trap, was found not to be effective using the TEMPOL indicator. This is probably due to inhibition in the formation of spin adducts or their degradation by Na 2SO 3.

  19. The influence of additives on beer stability investigated by EPR spectroscopy.

    PubMed

    Brezová, Vlasta; Polovka, Martin; Stasko, Andrej

    2002-04-01

    In thermally-accelerated aging followed by EPR spectroscopy of beer samples of various stabilities, free radical 4-hydroxy-2,2,6,6-tetramethyl-1-piperidinyloxy (TEMPOL) was shown to be an effective indicator of the breakdown of a sample's stability, comparable to the commonly used spin trapping agent alpha-phenyl-N-tert-butylnitrone (PBN). Both indicators were then employed to investigate the influence of additives on beer stability. The addition of L-ascorbic acid (ASC) to the beer samples accelerated the radical processes and a lower stability was found. DL-alpha-tocopherol (alpha-TOC) did not influence beer stability significantly (probably due to its limited solubility). Na2SO3, described as a very effective stabilizer in experiments with the PBN spin trap, was found not to be effective using the TEMPOL indicator. This is probably due to inhibition in the formation of spin adducts or their degradation by Na2SO3.

  20. Genetic and Environmental Influences on Media Use and Communication Behaviors

    ERIC Educational Resources Information Center

    Kirzinger, Ashley E.; Weber, Christopher; Johnson, Martin

    2012-01-01

    A great deal of scholarly work has explored the motivations behind media consumption and other various communication traits. However, little research has investigated the sources of these motivations and virtually no research considers their potential genetic underpinnings. Drawing on the field of behavior genetics, we use a classical twin design…

  1. Genetic Influences on Personality from Infancy to Adulthood.

    ERIC Educational Resources Information Center

    Goldsmith, H. H.

    1983-01-01

    Provides an overview of recent behavior-genetic studies of personality that document (1) the demonstration of genetic bases for stability of certain personality dimensions, (2) evidence suggesting the most influential environmental sources of variation are those not jointly experienced by family members, and (3) continuing controversy regarding…

  2. Genetic Influence on Adults' Ratings of Their Current Family Environment.

    ERIC Educational Resources Information Center

    Plomin, Robert; And Others

    1989-01-01

    Studied genetic and environmental origins of individual differences in adults' (N=386) ratings of their current family environment using Moos Family Environment Scales (FES). Found 25 percent of adults' FES scores due to genetic differences. Found environment in which they were reared had little effect on adults' ratings of their family…

  3. Heritability of strabismus: genetic influence is specific to eso-deviation and independent of refractive error.

    PubMed

    Sanfilippo, Paul G; Hammond, Christopher J; Staffieri, Sandra E; Kearns, Lisa S; Melissa Liew, S H; Barbour, Julie M; Hewitt, Alex W; Ge, Dongliang; Snieder, Harold; Mackinnon, Jane R; Brown, Shayne A; Lorenz, Birgit; Spector, Tim D; Martin, Nicholas G; Wilmer, Jeremy B; Mackey, David A

    2012-10-01

    Strabismus represents a complex oculomotor disorder characterized by the deviation of one or both eyes and poor vision. A more sophisticated understanding of the genetic liability of strabismus is required to guide searches for associated molecular variants. In this classical twin study of 1,462 twin pairs, we examined the relative influence of genes and environment in comitant strabismus, and the degree to which these influences can be explained by factors in common with refractive error. Participants were examined for the presence of latent ('phoria') and manifest ('tropia') strabismus using cover-uncover and alternate cover tests. Two phenotypes were distinguished: eso-deviation (esophoria and esotropia) and exo-deviation (exophoria and exotropia). Structural equation modeling was subsequently employed to partition the observed phenotypic variation in the twin data into specific variance components. The prevalence of eso-deviation and exo-deviation was 8.6% and 20.7%, respectively. For eso-deviation, the polychoric correlation was significantly greater in monozygotic (MZ) (r = 0.65) compared to dizygotic (DZ) twin pairs (r = 0.33), suggesting a genetic role (p = .003). There was no significant difference in polychoric correlation between MZ (r = 0.55) and DZ twin pairs (r = 0.53) for exo-deviation (p = .86), implying that genetic factors do not play a significant role in the etiology of exo-deviation. The heritability of an eso-deviation was 0.64 (95% CI 0.50-0.75). The additive genetic correlation for eso-deviation and refractive error was 0.13 and the bivariate heritability (i.e., shared variance) was less than 1%, suggesting negligible shared genetic effect. This study documents a substantial heritability of 64% for eso-deviation, yet no corresponding heritability for exo-deviation, suggesting that the genetic contribution to strabismus may be specific to eso-deviation. Future studies are now needed to identify the genes associated with eso-deviation and

  4. 29 CFR 2590.702-1 - Additional requirements prohibiting discrimination based on genetic information.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... diabetes. A begins to experience excessive sweating, thirst, and fatigue. A's physician examines A and... adult onset diabetes mellitus (Type 2 diabetes). (ii) Conclusion. In this Example 1, A has been... involved. The diagnosis is not based principally on genetic information. Thus, Type 2 diabetes...

  5. 45 CFR 146.122 - Additional requirements prohibiting discrimination based on genetic information.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... diabetes. A begins to experience excessive sweating, thirst, and fatigue. A's physician examines A and... adult onset diabetes mellitus (Type 2 diabetes). (ii) Conclusion. In this Example 1, A has been... involved. The diagnosis is not based principally on genetic information. Thus, Type 2 diabetes...

  6. Commentary: how individual and profession-level factors influence discussion of disability in prenatal genetic counseling.

    PubMed

    Hodgson, Jan; Weil, Jon

    2012-02-01

    Hodgson and Weil (Journal of Genetic Counseling, 2011) reports on two interactive workshops in which genetic counselors identified a broad set of counseling issues that may be impediments to promoting an adequate discussion of disability in prenatal genetic counseling. The present commentary discusses two factors that we infer underlie these counseling issues. First, countertransference concerning disability, which is normal and expected, may influence genetic counselors' decisions about raising and exploring the complex topic of disability in prenatal genetic counseling. Second, the limited involvement of the profession of genetic counseling in the complex social and ethical issues of disability provide little guidance to the individual genetic counselor with respect to discussing disability in prenatal diagnosis counseling. We suggest both factors must be acknowledged and addressed in order to adequately implement the recommendations presented in Hodgson and Weil (Journal of Genetic Counseling, 2011) as well as other efforts to increase discussion of disability in prenatal diagnosis counseling in the service of informed decision making.

  7. Influence of electrolyte co-additives on the performance of dye-sensitized solar cells

    PubMed Central

    2011-01-01

    The presence of specific chemical additives in the redox electrolyte results in an efficient increase of the photovoltaic performance of dye-sensitized solar cells (DSCs). The most effective additives are 4-tert-butylpyridine (TBP), N-methylbenzimidazole (NMBI) and guanidinium thiocyanate (GuNCS) that are adsorbed onto the photoelectrode/electrolyte interface, thus shifting the semiconductor's conduction band edge and preventing recombination with triiodides. In a comparative work, we investigated in detail the action of TBP and NMBI additives in ionic liquid-based redox electrolytes with varying iodine concentrations, in order to extract the optimum additive/I2 ratio for each system. Different optimum additive/I2 ratios were determined for TBP and NMBI, despite the fact that both generally work in a similar way. Further addition of GuNCS in the optimized electrolytic media causes significant synergistic effects, the action of GuNCS being strongly influenced by the nature of the corresponding co-additive. Under the best operation conditions, power conversion efficiencies as high as 8% were obtained. PMID:21711833

  8. Influence of PEG-12 Dimethicone addition on stability and formation of emulsions containing liquid crystal.

    PubMed

    Andrade, F F; Santos, O D H; Oliveira, W P; Rocha-Filho, P A

    2007-06-01

    Oil/water emulsions, containing liquid crystals, were developed employing Andiroba oil, PEG-12 Dimethicone and Crodafos CES. It was evaluated the influence of silicone surfactants on the emulsions stability and on the formation of liquid crystalline phases and therefore, physicochemical characteristics, such as rheology and zeta potential, were evaluated. Emulsions were prepared by the emulsions phase inversion method. All the formulations presented lamellar liquid crystalline phases. The PEG-12 Dimethicone addition did not change microscopically the liquid crystalline phases. The emulsions containing silicone demonstrated lower viscosity than those without the additive. This is an important feature, as the silicone did not change the rheological profile; however, the addition of silicone still can be used as a viscosity controller. The formulations had their viscosity increased 15 and 150 days after their preparation. This characteristic shows that the emulsions have their organization increased along the storing time. In the analysis of zeta potential, we could verify that all formulations presented negative values between -39.7 and -70.0 mV. Within this range of values, the emulsion physical stability is high (Fig. 10). It was concluded that the addition of PEG-12 Dimethicone kept the liquid crystalline phase of the emulsion obtained with Crodafos CES, influencing in a positive way in the system stability.

  9. Mates and marriage matter: genetic and environmental influences on subjective wellbeing across marital status.

    PubMed

    Nes, Ragnhild B; Røysamb, Espen; Harris, Jennifer R; Czajkowski, Nikolai; Tambs, Kristian

    2010-08-01

    Specific environments and social relationships may alter the impact of genes. Previous studies have shown marriage to moderate heritability for depressive symptoms in females, suggesting that marriage provides protection or compensation against genetic risks. Similar mechanisms may be relevant for subjective wellbeing (SWB), which is considerably influenced by genes and almost universally associated with marital status. Questionnaire data on SWB from a population-based sample of 1250 monozygotic (MZ) and 981 dizygotic (DZ) male and female twin pairs (n = 4462) were analyzed using structural equation modeling by means of Mx to investigate genetic and environmental influences on SWB across marital status. Resemblance for SWB in MZ twins exceeded that of DZ twins, but the magnitude of this difference varied across marital status. Genetic factors explained 51% and 54% of the variance in SWB among unmarried males and females, and 41% and 39% in married or cohabitating respondents. Remaining variance was attributable to the nonshared environment. The genetic influences were partly different (r(g) = 0.64) across marital status in females, but overlapping in married and single males. Our findings show that marriage moderates the magnitude of genetic influences on SWB in both males and females, with a smaller estimate of genetic influences for those with a marital or equivalent partner. The genetic influences on SWB are thus clearly contingent on the environmental context.

  10. Choice of Reading Comprehension Test Influences the Outcomes of Genetic Analyses

    PubMed Central

    Betjemann, Rebecca S.; Keenan, Janice M.; Olson, Richard K.; DeFries, John C.

    2010-01-01

    Does the choice of test for assessing reading comprehension influence the outcome of genetic analyses? A twin design compared two types of reading comprehension tests classified as primarily associated with word decoding (RC-D) or listening comprehension (RC-LC). For both types of tests, the overall genetic influence is high and nearly identical. However, the tests differed significantly in how they covary with the genes associated with decoding and listening comprehension. Although Cholesky decomposition showed that both types of comprehension tests shared significant genetic influence with both decoding and listening comprehension, RC-D tests shared most genetic variance with decoding, and RC-LC tests shared most with listening comprehension. Thus, different tests used to measure the same construct may manifest very different patterns of genetic covariation. These results suggest that the apparent discrepancies among the findings of previous twin studies of reading comprehension could be due at least in part to test differences. PMID:21804757

  11. Education influences the role of genetics in myopia.

    PubMed

    Verhoeven, Virginie J M; Buitendijk, Gabriëlle H S; Rivadeneira, Fernando; Uitterlinden, André G; Vingerling, Johannes R; Hofman, Albert; Klaver, Caroline C W

    2013-12-01

    Myopia is a complex inherited ocular trait resulting from an interplay of genes and environmental factors, most of which are currently unknown. In two independent population-based cohorts consisting of 5,256 and 3,938 individuals from European descent, we tested for biological interaction between genetic predisposition and level of education on the risk of myopia. A genetic risk score was calculated based on 26 myopia-associated single nucleotide polymorphisms recently discovered by the Consortium for Refractive Error and Myopia. Educational level was obtained by questionnaire and categorized into primary, intermediate, and higher education. Refractive error was measured during a standardized ophthalmological examination. Biological interaction was assessed by calculation of the synergy index. Individuals at high genetic risk in combination with university-level education had a remarkably high risk of myopia (OR 51.3; 95 % CI 18.5-142.6), while those at high genetic risk with only primary schooling were at a much lower increased risk of myopia (OR 7.2, 95 % CI 3.1-17.0). The combined effect of genetic predisposition and education on the risk of myopia was far higher than the sum of these two effects (synergy index 4.2, 95 % CI 1.9-9.5). This epidemiological study provides evidence of a gene-environment interaction in which an individual's genetic risk of myopia is significantly affected by his or her educational level.

  12. Understanding Genetic and Environmental Influences on the Development of Reading: Reaching for Higher Fruit

    ERIC Educational Resources Information Center

    Wagner, Richard K.

    2005-01-01

    The transition from first-generation to second-generation studies of genetic and environmental influences on the development of reading is underway. The first generation of quantitative genetic studies yielded an extraordinary conclusion: Fifty percent or more of the variance in most constructs, including reading, is attributable to genetic…

  13. Genetic Influences on Activity Level in Early Childhood: Do Situations Matter?

    ERIC Educational Resources Information Center

    Saudino, Kimberly J.; Zapfe, Jeffrey A.

    2008-01-01

    Although genetic influences on individual differences in activity level (AL) are well documented, few studies have considered the etiology of AL from a contextual perspective. In the present study, cross-situational and context-specific genetic effects on individual differences in AL at age 2 were examined. The AL of 312 twin pairs (144…

  14. Children's History of Speech-Language Difficulties: Genetic Influences and Associations with Reading-Related Measures

    ERIC Educational Resources Information Center

    DeThorne, Laura Segebart; Hart, Sara A.; Petrill, Stephen A.; Deater-Deckard, Kirby; Thompson, Lee Anne; Schatschneider, Chris; Davison, Megan Dunn

    2006-01-01

    Purpose: This study examined (a) the extent of genetic and environmental influences on children's articulation and language difficulties and (b) the phenotypic associations between such difficulties and direct assessments of reading-related skills during early school-age years. Method: Behavioral genetic analyses focused on parent-report data…

  15. Twin Studies in Autism: What Might They Say about Genetic and Environmental Influences

    ERIC Educational Resources Information Center

    Anderson, George M.

    2012-01-01

    Genetic and epigenetic differences exist within monozygote twin-pairs and might be especially important in the expression of autism. Assuming phenotypic differences between monozygotic twins are due to environmental influences may lead to mistaken conclusions regarding the relative genetic and environmental contribution to autism risk.

  16. Shared Genetic Influences on Negative Emotionality and Major Depression/Conduct Disorder Comorbidity

    ERIC Educational Resources Information Center

    Tackett, Jennifer L.; Waldman, Irwin D.; Van Hulle, Carol A.; Lahey, Benjamin B.

    2011-01-01

    Objective: To investigate whether genetic contributions to major depressive disorder and conduct disorder comorbidity are shared with genetic influences on negative emotionality. Method: Primary caregivers of 2,022 same- and opposite-sex twin pairs 6 to 18 years of age comprised a population-based sample. Participants were randomly selected across…

  17. ENVIRONMENTAL STRESS AND GENETICS INFLUENCE NIGHTTIME LEAF CONDUCTANCE IN THE C4 GRASS DISTICHLIS SPICATA

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Growing awareness of nighttime leaf conductance (gnight) in many species, as well as genetic variation in gnight within several species, has raised questions about how genetic variation and environmental stress interact to influence the magnitude of gnight. The objective of this study was to invest...

  18. Influence of Additional Electrical Current on Machinability of BN Free-Machining Steel in Turning

    NASA Astrophysics Data System (ADS)

    Tanaka, Ryutaro; Lin, Yongchuan; Hosokawa, Akira; Ueda, Takashi; Yamada, Keiji

    It is widely known that the electromotive force generated at the interface between the cutting tool and work material, during a metal cutting process, influences the cutting mechanism. Previously published papers describe the influence of the passage of electric current through the contact zone between cutting tool and work material, on tool life in cutting several work materials. However, few papers deal with the influence of this electric current on the behavior of a deposited layer called “belag”, observed in turning work materials such as calcium deoxidized steel and boron and nitrogen, BN added steel. This paper deals with the machinability of BN free-machining steel in turning with a supplied current of various values and different directions of flow. The test materials were, BN added steel based AISI 1045 which has good machinability at high cutting speed and standard AISI 1045. Turning was undertaken using one of three types of cutting tool; K10 and P30 carbide and cermet. The power source for additional current supply was a direct current source and the maximum current flowing in the circuit was 20milliamperes (mA). To investigate the influence of supplied current on the characteristics of the turning process, tool life, cutting force and cutting temperature were determined experimentally. When turning with carbide P30 the maximum crater depth in the tool was reduced drastically when the value of supplied current reached 5mA, regardless of its direction of flow, compared with depths at lower current values. This suggests that the additional electrical current promotes generation of the protective layer, on the rake face, in turning BN free-machining steel.

  19. Genetic Influences on Learning Disabilities II: Behavior Genetics and Clinical Implications.

    ERIC Educational Resources Information Center

    Smith, Shelley D.; Pennington, Bruce F.

    1983-01-01

    Research in the genetics of behavioral traits, undertaken by family studies, twin studies, and adoption studies, has revealed information on normal variation in cognitive abilities as well as specific learning disabilities (primarily dyslexia). Genetic evaluation of learning disabled students have implications for counseling and recurrence risk…

  20. Influence of length of hot soak of melt on properties of lithium greases with additives

    SciTech Connect

    El'-Shaban, I.; Fuks, I.G.; Safi, M.; Uvarova, E.M.; Yaroshevich, S.V.

    1983-11-01

    An extension of the time during which the melt is hot-soaked at the maximum cooking temperature tends to improve the dispersion of the thickening agent in the oil but also increases oxidation and evaporation. This paper investigates the influence of hot-soaking the soap/oil melt of Li greases on the effectiveness of selected additives. Extending the hot-soak time in manufacturing Li greases leads to oxidation as well as accumulation of oxygen-containing substances in the grease. The end result is poorer properties of the grease.

  1. Relative Influence of Genetics and Shared Environment on Child Mental Health Symptoms Depends on Comorbidity

    PubMed Central

    Van Hulle, Carol A.; Lemery-Chalfant, Kathryn; Maier, Rose; Davidson, Richard J.; Goldsmith, H. Hill

    2014-01-01

    Background Comorbidity among childhood mental health symptoms is common in clinical and community samples and should be accounted for when investigating etiology. We therefore aimed to uncover latent classes of mental health symptoms in middle childhood in a community sample, and to determine the latent genetic and environmental influences on those classes. Methods The sample comprised representative cohorts of twins. A questionnaire-based assessment of mental health symptoms was used in latent class analyses. Data on 3223 twins (1578 boys and 1645 girls) with a mean age of 7.5 years were analyzed. The sample was predominantly non-Hispanic Caucasian (92.1%). Results Latent class models delineated groups of children according to symptom profiles–not necessarily clinical groups but groups representing the general population, most with scores in the normative range. The best-fitting models suggested 9 classes for both girls and boys. Eight of the classes were very similar across sexes; these classes ranged from a “Low Symptom” class to a “Moderately Internalizing & Severely Externalizing” class. In addition, a “Moderately Anxious” class was identified for girls but not boys, and a “Severely Impulsive & Inattentive” class was identified for boys but not girls. Sex-combined analyses implicated moderate genetic influences for all classes. Shared environmental influences were moderate for the “Low Symptom” and “Moderately Internalizing & Severely Externalizing” classes, and small to zero for other classes. Conclusions We conclude that symptom classes are largely similar across sexes in middle childhood. Heritability was moderate for all classes, but shared environment played a greater role for classes in which no one type of symptom predominated. PMID:25077799

  2. Community acquired pneumonia: genetic variants influencing systemic inflammation.

    PubMed

    Ferrer Agüero, J M; Millán, S; Rodríguez de Castro, F; Martín-Loeches, I; Solé Violán, J

    2014-01-01

    The inflammatory response depends on several factors, including pathogenicity and duration of the stimulus, and also on the balance between inflammatory and antiinflammatory response. Several studies have presented evidence of the importance of genetic factors in severe infections. The innate immune response prevents the invasion and spread of pathogens during the first hours after infection. Each of the different processes involved in innate immunity may be affected by genetic polymorphisms, which can result in susceptibility or resistance to infection. The results obtained in the different studies do not irrefutably prove the role or function of a gene in the pathogenesis of respiratory infections. However, they can generate new hypotheses, suggest new candidate genes based on their role in the inflammatory response, and constitute a first step in understanding the underlying genetic factors.

  3. An Experimental Investigation of the Influence of the Lubricant Viscosity and Additives on Gear Wear

    NASA Technical Reports Server (NTRS)

    Krantz, Timothy L.; Kahraman, Ahmet

    2005-01-01

    The influence of lubricant viscosity and additives on the average wear rate of spur gear pairs was investigated experimentally. The gear specimens of a comprehensive gear durability test program that made use of seven lubricants covering a range of viscosities were examined to measure gear tooth wear. The measured wear was related to the as-manufactured surface roughness, the elastohydrodynamic film thickness, and the experimentally determined contact fatigue lives of the same specimens. In general, the wear rate was found to be inversely proportional to the viscosity of the lubricant and to the lambda ratio (also sometimes called the specific film thickness). The data also show an exponential trend between the average wear rates and the surface fatigue lives. Lubricants with similar viscosities but differing additives and compositions had somewhat differing gear surface fatigue lives and wear rates.

  4. Influence of Pentavalent Dopant Addition to Polarization and Bioactivity of Hydroxyapatite

    PubMed Central

    Dhal, Jharana; Bose, Susmita; Bandyopadhyay, Amit

    2013-01-01

    Influence of pentavalent tantalum doping in bulk hydroxyapatite (HAp) ceramics has been investigated for polarizability and bioactivity. Phase analysis from X-ray diffraction measurement indicates that increasing dopant concentration decreased the amount of HAp phase and increased β-TCP and/or α-TCP phases during sintering at 1250 °C in a muffle furnace. Results from thermally stimulated depolarization current (TSDC) measurements showed that doping hindered charge storage ability in HAp ceramics, and doped samples stored fewer charge compared to pure HAp. However, doping enhanced wettability of HAp samples, which was improved further due to polarization. In vitro human osteoblast cell-materials interactions study revealed an increase in bioactivity due to dopant addition and polarization compared to pure HAp. This increase in bioactivity was attributed to the increase in wettability due to surface charge and dopant addition. PMID:23623133

  5. Influence of hydroxypropylmethylcellulose addition and homogenization conditions on properties and ageing of corn starch based films.

    PubMed

    Jiménez, Alberto; Fabra, María José; Talens, Pau; Chiralt, Amparo

    2012-06-20

    Edible films based on corn starch, hydroxypropyl methylcellulose (HPMC) and their mixtures were prepared by using two different procedures to homogenize the film forming dispersions (rotor-stator and rotor-stator plus microfluidizer). The influence of both HPMC-starch ratio and the homogenization method on the structural, optical, tensile and barrier properties of the films was analysed. The ageing of the films was also studied by characterizing them after 5 weeks' storage. Starch re-crystallization in newly prepared and stored films was analysed by means of X-ray diffraction. HPMC-corn starch films showed phase separation of polymers, which was enhanced when microfluidization was applied to the film forming dispersion. Nevertheless, HPMC addition inhibited starch re-crystallization during storage, giving rise to more flexible films at the end of the period. Water barrier properties of starch films were hardly affected by the addition of HPMC, although oxygen permeability increased due to its poorer oxygen barrier properties.

  6. The influence of UV-irradiation on chitosan modified by the tannic acid addition.

    PubMed

    Sionkowska, A; Kaczmarek, B; Gnatowska, M; Kowalonek, J

    2015-07-01

    The influence of UV-irradiation with the wavelength 254 nm on the properties of chitosan modified by the tannic acid addition was studied. Tannic acid was added to chitosan solution in different weight ratios and after solvent evaporation thin films were formed. The properties of the films such as thermal stability, Young modulus, ultimate tensile strength, moisture content, swelling behavior before and after UV-irradiation were measured and compared. Moreover, the surface properties were studied by contact angle measurements and by the use of atomic force microscopy. The results showed that UV-irradiation caused both, the degradation of the specimen and its cross-linking. The surface of the films made of chitosan modified by the addition of tannic acid was altered by UV-irradiation.

  7. Influence of pentavalent dopant addition to polarization and bioactivity of hydroxyapatite.

    PubMed

    Dhal, Jharana; Bose, Susmita; Bandyopadhyay, Amit

    2013-07-01

    Influence of pentavalent tantalum doping in bulk hydroxyapatite (HAp) ceramics has been investigated for polarizability and bioactivity. Phase analysis from X-ray diffraction measurement indicates that increasing dopant concentration decreased the amount of HAp phase and increased β-TCP and/or α-TCP phases during sintering at 1250 °C in a muffle furnace. Results from thermally stimulated depolarization current (TSDC) measurements showed that doping hindered charge storage ability in HAp ceramics, and doped samples stored fewer charge compared to pure HAp. However, doping enhanced wettability of HAp samples, which was improved further due to polarization. In vitro human osteoblast cell-material interaction study revealed an increase in bioactivity due to dopant addition and polarization compared to pure HAp. This increase in bioactivity was attributed to the increase in wettability due to surface charge and dopant addition.

  8. Influence of Biofuel Additions on the Ignition Delay of Single Diesel Fuel Drops

    NASA Astrophysics Data System (ADS)

    Kopeika, A. K.; Golovko, V. V.; Zolotko, A. N.; Raslavičius, L.; Lubarskii, V. M.

    2015-07-01

    The behavior of single drops of two- and three-component mineral diesel fuel blends with ethanol and rapeseed oil methyl ester in a heated atmosphere has been investigated. With the use of the known quasi-stationary approach, the influence of the thermal properties of fuel blend components and their composition on the ignition delay time of the drop has been investigated. It has been established that under inert heating conditions of the drop, additions of low-boiling ethanol to diesel fuel should shorten the duration of the preignition period, and additions of rapeseed oil methyl ester should, on the contrary, prolong it. Analysis of the obtained data has made it possible to determine the optimal composition of the fuel blend for the most economical operation of the diesel. The prognostic estimates made are confirmed by laboratory experiments and bench tests of fuel blends.

  9. Shared genetic factors influence amygdala volumes and risk for alcoholism.

    PubMed

    Dager, Alecia D; McKay, D Reese; Kent, Jack W; Curran, Joanne E; Knowles, Emma; Sprooten, Emma; Göring, Harald H H; Dyer, Thomas D; Pearlson, Godfrey D; Olvera, Rene L; Fox, Peter T; Lovallo, William R; Duggirala, Ravi; Almasy, Laura; Blangero, John; Glahn, David C

    2015-01-01

    Alcohol abuse and dependence (alcohol use disorders, AUDs) are associated with brain shrinkage. Subcortical structures including the amygdala, hippocampus, ventral striatum, dorsal striatum, and thalamus subserve reward functioning and may be particularly vulnerable to alcohol-related damage. These structures may also show pre-existing deficits impacting the development and maintenance of AUD. It remains unclear whether there are common genetic features underlying both subcortical volumes and AUD. In this study, structural brain images were acquired from 872 Mexican-American individuals from extended pedigrees. Subcortical volumes were obtained using FreeSurfer, and quantitative genetic analyses were performed in SOLAR. We hypothesized the following: (1) reduced subcortical volumes in individuals with lifetime AUD relative to unrelated controls; (2) reduced subcortical volumes in individuals with current relative to past AUD; (3) in non-AUD individuals, reduced subcortical volumes in those with a family history of AUD compared to those without; and (4) evidence for common genetic underpinnings (pleiotropy) between AUD risk and subcortical volumes. Results showed that individuals with lifetime AUD showed larger ventricular and smaller amygdala volumes compared to non-AUD individuals. For the amygdala, there were no differences in volume between current vs past AUD, and non-AUD individuals with a family history of AUD demonstrated reductions compared to those with no such family history. Finally, amygdala volume was genetically correlated with the risk for AUD. Together, these results suggest that reduced amygdala volume reflects a pre-existing difference rather than alcohol-induced neurotoxic damage. Our genetic correlation analysis provides evidence for a common genetic factor underlying both reduced amygdala volumes and AUD risk.

  10. Shared Genetic Factors Influence Amygdala Volumes and Risk for Alcoholism

    PubMed Central

    Dager, Alecia D; McKay, D Reese; Kent, Jack W; Curran, Joanne E; Knowles, Emma; Sprooten, Emma; Göring, Harald HH; Dyer, Thomas D; Pearlson, Godfrey D; Olvera, Rene L; Fox, Peter T; Lovallo, William R; Duggirala, Ravi; Almasy, Laura; Blangero, John; Glahn, David C

    2015-01-01

    Alcohol abuse and dependence (alcohol use disorders, AUDs) are associated with brain shrinkage. Subcortical structures including the amygdala, hippocampus, ventral striatum, dorsal striatum, and thalamus subserve reward functioning and may be particularly vulnerable to alcohol-related damage. These structures may also show pre-existing deficits impacting the development and maintenance of AUD. It remains unclear whether there are common genetic features underlying both subcortical volumes and AUD. In this study, structural brain images were acquired from 872 Mexican-American individuals from extended pedigrees. Subcortical volumes were obtained using FreeSurfer, and quantitative genetic analyses were performed in SOLAR. We hypothesized the following: (1) reduced subcortical volumes in individuals with lifetime AUD relative to unrelated controls; (2) reduced subcortical volumes in individuals with current relative to past AUD; (3) in non-AUD individuals, reduced subcortical volumes in those with a family history of AUD compared to those without; and (4) evidence for common genetic underpinnings (pleiotropy) between AUD risk and subcortical volumes. Results showed that individuals with lifetime AUD showed larger ventricular and smaller amygdala volumes compared to non-AUD individuals. For the amygdala, there were no differences in volume between current vs past AUD, and non-AUD individuals with a family history of AUD demonstrated reductions compared to those with no such family history. Finally, amygdala volume was genetically correlated with the risk for AUD. Together, these results suggest that reduced amygdala volume reflects a pre-existing difference rather than alcohol-induced neurotoxic damage. Our genetic correlation analysis provides evidence for a common genetic factor underlying both reduced amygdala volumes and AUD risk. PMID:25079289

  11. Influence of preparation conditions on 211 particle refinement in YBCO bulk superconductors with Ce addition

    NASA Astrophysics Data System (ADS)

    Diko, Pavel; Volochová, Daniela; Radušovská, Monika; Zmorayová, Katarína; Šefčiková, Martina; Antal, Vitalij; Jurek, Karel; Jirsa, Miloš; Kováč, Jozef

    2013-11-01

    The influence of CeO2 and BaCeO3 addition and the influence of processing conditions on Y2BaCuO5 (Y211) particle size and particle distribution in melt-processed YBa2Cu3O7/Y2BaCuO5 (Y123/Y211) bulk superconductors with nominal composition Y1.5Ba2Cu3Ox was investigated. Ce dissolved in the peritectic melt can actively hinder the Y211 particle growth by the Ostwald ripening process at melting stage. At sintering of intensively milled samples, Y211 particles in the charge free of CeO2 are smaller than Y211 particles formed in the charge with CeO2 addition and this behaviour can be related to the melt formation around added CeO2. The Y211 particle refinement in the mildly milled samples with large Y123 particles in the pressed green bodies is caused by very dense Y211 skeleton resistant to melt formation at the sintering stage. This skeleton is a barrier for pollution of the sample from the substrate and from the seed. BaCeO3 added instead CeO2 causes significant Y211 particle refinement also in the samples with homogenously distributed Y211 particles.

  12. Stochastic resonance subject to multiplicative and additive noise: The influence of potential asymmetries

    NASA Astrophysics Data System (ADS)

    Qiao, Zijian; Lei, Yaguo; Lin, Jing; Niu, Shantao

    2016-11-01

    The influence of potential asymmetries on stochastic resonance (SR) subject to both multiplicative and additive noise is studied by using two-state theory, where three types of asymmetries are introduced in double-well potential by varying the depth, the width, and both the depth and the width of the left well alone. The characteristics of SR in the asymmetric cases are different from symmetric ones, where asymmetry has a strong influence on output signal-to-noise ratio (SNR) and optimal noise intensity. Even optimal noise intensity is also associated with the steepness of the potential-barrier wall, which is generally ignored. Moreover, the largest SNR in asymmetric SR is found to be relatively larger than the symmetric one, which also closely depends on noise intensity ratio. In addition, a moderate cross-correlation intensity between two noises is good for improving the output SNR. More interestingly, a double SR phenomenon is observed in certain cases for two correlated noises, whereas it disappears for two independent noises. The above clues are helpful in achieving weak signal detection under heavy background noise.

  13. Obesity among Black Adolescent Girls: Genetic, Psychosocial, and Cultural Influences

    ERIC Educational Resources Information Center

    Alleyne, Sylvan I.; LaPoint, Velma

    2004-01-01

    This article focuses on the causes, consequences, and prevention of obesity among a subgroup of the American population, Black adolescent girls. Using an ecological perspective on obesity among Black adolescent girls, including feminist-womanist perspectives and historical and medical sociological perspectives, the authors discuss genetic,…

  14. Genetic Influences on Peer and Family Relationships Across Adolescent Development: Introduction to the Special Issue.

    PubMed

    Mullineaux, Paula Y; DiLalla, Lisabeth Fisher

    2015-07-01

    Nearly all aspects of human development are influenced by genetic and environmental factors, which conjointly shape development through several gene-environment interplay mechanisms. More recently, researchers have begun to examine the influence of genetic factors on peer and family relationships across the pre-adolescent and adolescent time periods. This article introduces the special issue by providing a critical overview of behavior genetic methodology and existing research demonstrating gene-environment processes operating on the link between peer and family relationships and adolescent adjustment. The overview is followed by a summary of new research studies, which use genetically informed samples to examine how peer and family environment work together with genetic factors to influence behavioral outcomes across adolescence. The studies in this special issue provide further evidence of gene-environment interplay through innovative behavior genetic methodological approaches across international samples. Results from the quantitative models indicate environmental moderation of genetic risk for coercive adolescent-parent relationships and deviant peer affiliation. The molecular genetics studies provide support for a gene-environment interaction differential susceptibility model for dopamine regulation genes across positive and negative peer and family environments. Overall, the findings from the studies in this special issue demonstrate the importance of considering how genes and environments work in concert to shape developmental outcomes during adolescence.

  15. Genetic and environmental influences on sex-typed behavior during the preschool years.

    PubMed

    Iervolino, Alessandra C; Hines, Melissa; Golombok, Susan E; Rust, John; Plomin, Robert

    2005-01-01

    The genetic and environmental etiologies of sex-typed behavior were examined during the preschool years in a sample of 3,990 three- to four-year-old twin and non-twin sibling pairs. Results showed moderate genetic and significant shared environmental influence for boys and substantial genetic and moderate shared environmental influence for girls. For both boys and girls, twin-specific shared environmental effects contributed to twins' similarity in gender role behavior and accounted for approximately 22% of the shared environmental variance. These findings extend previous research conducted with older samples by showing not only important genetic contributions to gender role behavior but also an important role for shared environment. The inclusion of non-twin siblings showed that some of the shared environmental influence is specific to twins.

  16. Behavior problems among children from different family structures: the influence of genetic self-selection.

    PubMed

    Cleveland, H H; Wiebe, R P; van den Oord, E J; Rowe, D C

    2000-01-01

    To examine both genetic and environmental influences on children's behavior problems in households defined by marital status and sibling relatedness, this study applied behavioral genetic methodology to four groups totalling 1524 sibling pairs drawn from 796 households: (1) two-parent full siblings, (2) two-parent half siblings, (3) mother-only full siblings, and (4) mother-only half siblings. Model-fitting procedures found that within-group variation on four subscales from the Behavior Problems Index was best explained by a model including both genetic and shared environmental factors. This model was then fit to the behavior problems means of the four groups. Its successful fit to these mean structures suggested that mean-level differences between groups were explained with the same influences that accounted for within-group variation. Genetic influences accounted for 81% to 94% of the mean-level difference in behavior problems between the two-parent, full sibling and the mother-only, half sibling groups. In contrast, shared environmental influences accounted for 67% to 88% of the mean-level difference in behavior problems between the two-parent, full sibling and mother-only, full sibling groups. The genetic influences are interpreted in terms of genetic self-selection into family structures.

  17. Data depth, data completeness, and their influence on quantitative genetic estimation in two contrasting bird populations.

    PubMed

    Quinn, J L; Charmantier, A; Garant, D; Sheldon, B C

    2006-05-01

    Evolutionary biologists increasingly use pedigree-based quantitative genetic methods to address questions about the evolutionary dynamics of traits in wild populations. In many cases, phenotypic data may have been collected only for recent parts of the study. How does this influence the performance of the models used to analyse these data? Here we explore how data depth (number of years) and completeness (number of observations) influence estimates of genetic variance and covariance within the context of an existing pedigree. Using long-term data from the great tit Parus major and the mute swan Cygnus olor, species with different life-histories, we examined the effect of manipulating the amount of data included on quantitative genetic parameter estimates. Manipulating data depth and completeness had little influence on estimated genetic variances, heritabilities, or genetic correlations, but (as expected) did influence confidence in these estimates. Estimated breeding values in the great tit were not influenced by data depth but were in the mute swan, probably because of differences in pedigree structure. Our analyses suggest the 'rule of thumb' that data from 3 years and a minimum of 100 individuals per year are needed to estimate genetic parameters with acceptable confidence, and that using pedigree data is worthwhile, even if phenotypes are only available toward the tips of the pedigree.

  18. Genetic influences in emotional dysfunction and alcoholism-related brain damage

    PubMed Central

    Oscar-Berman, Marlene; Bowirrat, Abdalla

    2005-01-01

    Alcoholism is a complex, multifactorial disorder involving problematic ethanol ingestion; it results from the interplay between genetic and environmental factors. Personality, likewise, is formed from a combination of inherited and acquired influences. Because selected dimensions of emotional temperament are associated with distinct neurochemical substrates contributing to specific personality phenotypes, certain aspects of abnormal emotional traits in alcoholics may be inherited. Emotions involve complex subjective experiences engaging multiple brain regions, most notably the cortex, limbic system, and cerebellum. Results of in vivo magnetic resonance imaging and post-mortem neuropathological studies of alcoholics indicate that the greatest cortical loss occurs in the frontal lobes, with concurrent thinning of the corpus callosum. Additional damage has been documented for the amygdala and hippocampus, as well as in the white matter of the cerebellum. All of the critical areas of alcoholism-related brain damage are important for normal emotional functioning. When changes occur in these brain regions, either as a consequence of chronic ethanol abuse or from a genetic anomaly affecting temperament and/or a vulnerability to alcoholism, corresponding changes in emotional functions are to be expected. In alcoholics, such changes have been observed in their perception and evaluation of emotional facial expressions, interpretation of emotional intonations in vocal utterances, and appreciation of the meaning of emotional materials. PMID:18568071

  19. Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle.

    PubMed

    Sandor, Cynthia; Li, Wanbo; Coppieters, Wouter; Druet, Tom; Charlier, Carole; Georges, Michel

    2012-01-01

    We use >250,000 cross-over events identified in >10,000 bovine sperm cells to perform an extensive characterization of meiotic recombination in male cattle. We map Quantitative Trait Loci (QTL) influencing genome-wide recombination rate, genome-wide hotspot usage, and locus-specific recombination rate. We fine-map three QTL and present strong evidence that genetic variants in REC8 and RNF212 influence genome-wide recombination rate, while genetic variants in PRDM9 influence genome-wide hotspot usage.

  20. Additional studies of sheep haemopexin: genetic control, frequencies and postnatal development.

    PubMed

    Stratil, A; Bobák, P; Margetín, M; Glasnák, V

    1989-01-01

    This study presents evidence that sheep haemopexin phenotypes are genetically controlled by three alleles, HpxA, HpxB1 and HpxB2, of a single autosomal locus. Frequencies of two alleles, HpxA and HpxB (HpxB encompasses two isoalleles, HpxB1 and HpxB2), were studied in eight sheep breeds in Czechoslovakia. The frequency of the HpxA allele was highest (ranging from 0.81 in Merino to 1.0 in East Friesian sheep). Qualitative and quantitative changes in haemopexin during postnatal development were studied by starch gel electrophoresis and rocket immunoelectrophoresis respectively. In electrophoresis, 1- or 2-day-old lambs had two very weak zones corresponding in mobility to two slower zones of adult animals. Later, the third more anodic zone appeared and gradually increased in intensity. In 1-month-old lambs the patterns were practically identical with those of adult animals. Using rocket immunoelectrophoresis, the level of haemopexin shortly after birth was practically zero. It rose sharply till the sixth day of life; then the level continued to rise slowly till about 1 month of age. The mean haemopexin level in adult sheep was 64.5 +/- 18.26 (SD) mg/100ml serum, ranging from 30.5 to 116.5 mg/100ml.

  1. Rivers influence the population genetic structure of bonobos (Pan paniscus).

    PubMed

    Eriksson, J; Hohmann, G; Boesch, C; Vigilant, L

    2004-11-01

    Bonobos are large, highly mobile primates living in the relatively undisturbed, contiguous forest south of the Congo River. Accordingly, gene flow among populations is assumed to be extensive, but may be impeded by large, impassable rivers. We examined mitochondrial DNA control region sequence variation in individuals from five distinct localities separated by rivers in order to estimate relative levels of genetic diversity and assess the extent and pattern of population genetic structure in the bonobo. Diversity estimates for the bonobo exceed those for humans, but are less than those found for the chimpanzee. All regions sampled are significantly differentiated from one another, according to genetic distances estimated as pairwise FSTs, with the greatest differentiation existing between region East and each of the two Northern populations (N and NE) and the least differentiation between regions Central and South. The distribution of nucleotide diversity shows a clear signal of population structure, with some 30% of the variance occurring among geographical regions. However, a geographical patterning of the population structure is not obvious. Namely, mitochondrial haplotypes were shared among all regions excepting the most eastern locality and the phylogenetic analysis revealed a tree in which haplotypes were intermixed with little regard to geographical origin, with the notable exception of the close relationships among the haplotypes found in the east. Nonetheless, genetic distances correlated with geographical distances when the intervening distances were measured around rivers presenting effective current-day barriers, but not when straight-line distances were used, suggesting that rivers are indeed a hindrance to gene flow in this species.

  2. Genetic background influences metabolic response to dietary phosphorus restriction.

    PubMed

    Hittmeier, Laura J; Grapes, Laura; Lensing, Renae L; Rothschild, Max F; Stahl, Chad H

    2006-06-01

    Dietary phosphorus (P) is essential to bone growth and turnover; however, little research has focused on the genetic mechanisms controlling P utilization. Understanding the interactions between genetics and dietary P that optimize bone integrity could provide novel interventions for osteoporosis. Thirty-six pigs from two sire lines known to differ in bone structure [heavier boned (HB) and lighter boned (LB)] were assigned to one of the three diets (P adequate, P repletion or P deficient). After 14 days, bone marrow and intact radial bones were collected. Differences between these lines in growth rate, bone integrity and gene expression within bone marrow were observed. In HB, but not LB, pigs, the P-deficient diet decreased weight gain (P<.01). For both lines, P deficiency caused a reduction in radial bone strength (P<.01), but HB P-deficient animals had greater (P<.10) bone integrity than P-deficient LB pigs. In HB, but not LB, pigs, dietary treatment affected the expression of CALCR (calcitonin receptor) (P<.05), VDR (vitamin D receptor) (P<.04) and IGFBP3 (insulin-like growth factor binding protein 3) (P<.06). There was also a trend of increased IL6 (interleukin-6), TFIIB (transcription initiation factor IIB) and SOX9 (sex determining region Y-box 9) expression with P deficiency in HB, but not LB, pigs. Both genetic backgrounds responded similarly to P deficiency with an increase in the expression of OXTR (oxytocin receptor) and IGF1 (insulin-like growth factor 1). Differences in growth rate, bone integrity and gene expression within the bone marrow suggest a difference in the homeorhetic control of P utilization between these genetic lines. Understanding these differences could lead to novel treatments for osteoporosis and aid in the development of tests for identifying those at risk for this disease.

  3. Genetic Influences on Cystic Fibrosis Lung Disease Severity

    PubMed Central

    Weiler, Colleen A.; Drumm, Mitchell L.

    2013-01-01

    Understanding the causes of variation in clinical manifestations of disease should allow for design of new or improved therapeutic strategies to treat the disease. If variation is caused by genetic differences between individuals, identifying the genes involved should present therapeutic targets, either in the proteins encoded by those genes or the pathways in which they function. The technology to identify and genotype the millions of variants present in the human genome has evolved rapidly over the past two decades. Originally only a small number of polymorphisms in a small number of subjects could be studied realistically, but speed and scope have increased nearly as dramatically as cost has decreased, making it feasible to determine genotypes of hundreds of thousands of polymorphisms in thousands of subjects. The use of such genetic technology has been applied to cystic fibrosis (CF) to identify genetic variation that alters the outcome of this single gene disorder. Candidate gene strategies to identify these variants, referred to as “modifier genes,” has yielded several genes that act in pathways known to be important in CF and for these the clinical implications are relatively clear. More recently, whole-genome surveys that probe hundreds of thousands of variants have been carried out and have identified genes and chromosomal regions for which a role in CF is not at all clear. Identification of these genes is exciting, as it provides the possibility for new areas of therapeutic development. PMID:23630497

  4. Genetic and Environmental Influences on Retinopathy of Prematurity

    PubMed Central

    Ortega-Molina, J. M.; Anaya-Alaminos, R.; Uberos-Fernández, J.; Solans-Pérez de Larraya, A.; Chaves-Samaniego, M. J.; Salgado-Miranda, A.; Piñar-Molina, R.; Jerez-Calero, A.; García-Serrano, J. L.

    2015-01-01

    Objective. The goals were to isolate and study the genetic susceptibility to retinopathy of prematurity (ROP), as well as the gene-environment interaction established in this disease. Methods. A retrospective study (2000–2014) was performed about the heritability of retinopathy of prematurity in 257 infants who were born at a gestational age of ≤32 weeks. The ROP was studied and treated by a single pediatric ophthalmologist. A binary logistic regression analysis was completed between the presence or absence of ROP and the predictor variables. Results. Data obtained from 38 monozygotic twins, 66 dizygotic twins, and 153 of simple birth were analyzed. The clinical features of the cohorts of monozygotic and dizygotic twins were not significantly different. Genetic factors represented 72.8% of the variability in the stage of ROP, environmental factors 23.08%, and random factors 4.12%. The environmental variables representing the highest risk of ROP were the number of days of tracheal intubation (p < 0.001), postnatal weight gain (p = 0.001), and development of sepsis (p = 0.0014). Conclusion. The heritability of ROP was found to be 0.73. The environmental factors regulate and modify the expression of the genetic code. PMID:26089603

  5. Genetic Variation in Autophagy-Related Genes Influences the Risk and Phenotype of Buruli Ulcer

    PubMed Central

    Capela, Carlos; Dossou, Ange Dodji; Silva-Gomes, Rita; Sopoh, Ghislain Emmanuel; Makoutode, Michel; Menino, João Filipe; Fraga, Alexandra Gabriel; Cunha, Cristina; Carvalho, Agostinho; Rodrigues, Fernando; Pedrosa, Jorge

    2016-01-01

    Introduction Buruli ulcer (BU) is a severe necrotizing human skin disease caused by Mycobacterium ulcerans. Clinically, presentation is a sum of these diverse pathogenic hits subjected to critical immune-regulatory mechanisms. Among them, autophagy has been demonstrated as a cellular process of critical importance. Since microtubules and dynein are affected by mycolactone, the critical pathogenic exotoxin produced by M. ulcerans, cytoskeleton-related changes might potentially impair the autophagic process and impact the risk and progression of infection. Objective Genetic variants in the autophagy-related genes NOD2, PARK2 and ATG16L1 has been associated with susceptibility to mycobacterial diseases. Here, we investigated their association with BU risk, its severe phenotypes and its progression to an ulcerative form. Methods Genetic variants were genotyped using KASPar chemistry in 208 BU patients (70.2% with an ulcerative form and 28% in severe WHO category 3 phenotype) and 300 healthy endemic controls. Results The rs1333955 SNP in PARK2 was significantly associated with increased susceptibility to BU [odds ratio (OR), 1.43; P = 0.05]. In addition, both the rs9302752 and rs2066842 SNPs in NOD2 gee significantly increased the predisposition of patients to develop category 3 (OR, 2.23; P = 0.02; and OR 12.7; P = 0.03, respectively, whereas the rs2241880 SNP in ATG16L1 was found to significantly protect patients from presenting the ulcer phenotype (OR, 0.35; P = 0.02). Conclusion Our findings indicate that specific genetic variants in autophagy-related genes influence susceptibility to the development of BU and its progression to severe phenotypes. PMID:27128681

  6. Influence of barriers to movement on within-watershed genetic variation of coastal cutthroat trout

    USGS Publications Warehouse

    Wofford, John E.B.; Gresswell, Robert E.; Banks, Michael A.

    2005-01-01

    Because human land use activities often result in increased fragmentation of aquatic and terrestrial habitats, a better understanding of the effects of fragmentation on the genetic heterogeneity of animal populations may be useful for effective management. We used eight microsatellites to examine the genetic structure of coastal cutthroat trout (Oncorhynchus clarki clarki) in Camp Creek, an isolated headwater stream in western Oregon. Our objectives were to determine if coastal cutthroat trout were genetically structured within streams and to assess the effects of natural and anthropogenic barriers on coastal cutthroat trout genetic variation. Fish sampling occurred at 10 locations, and allele frequencies differed significantly among all sampling sections. Dispersal barriers strongly influenced coastal cutthroat trout genetic structure and were associated with reduced genetic diversity and increased genetic differentiation. Results indicate that Camp Creek coastal cutthroat trout exist as many small, partially independent populations that are strongly affected by genetic drift. In headwater streams, barriers to movement can result in genetic and demographic isolation leading to reduced coastal cutthroat trout genetic diversity, and potentially compromising long-term population persistence. When habitat fragmentation eliminates gene flow among small populations, similar results may occur in other species.

  7. Genetic and Environmental Influences on Female Sexual Orientation, Childhood Gender Typicality and Adult Gender Identity

    PubMed Central

    Burri, Andrea; Cherkas, Lynn; Spector, Timothy; Rahman, Qazi

    2011-01-01

    Background Human sexual orientation is influenced by genetic and non-shared environmental factors as are two important psychological correlates – childhood gender typicality (CGT) and adult gender identity (AGI). However, researchers have been unable to resolve the genetic and non-genetic components that contribute to the covariation between these traits, particularly in women. Methodology/Principal Findings Here we performed a multivariate genetic analysis in a large sample of British female twins (N = 4,426) who completed a questionnaire assessing sexual attraction, CGT and AGI. Univariate genetic models indicated modest genetic influences on sexual attraction (25%), AGI (11%) and CGT (31%). For the multivariate analyses, a common pathway model best fitted the data. Conclusions/Significance This indicated that a single latent variable influenced by a genetic component and common non-shared environmental component explained the association between the three traits but there was substantial measurement error. These findings highlight common developmental factors affecting differences in sexual orientation. PMID:21760939

  8. Influence of edge additions on the synchronizability of oscillatory power networks

    NASA Astrophysics Data System (ADS)

    Yang, Li-xin; Jiang, Jun; Liu, Xiao-jun

    2016-12-01

    The influence of edge-adding number and edge-adding distance on synchronization of oscillatory power network is investigated. Here we study how the addition of new links impacts the emergence of synchrony in oscillatory power network, focusing on ring, and tree-like topologies. Numerical simulations show that the impact of distance of adding edges whether homogeneous (generators to generators or consumers to consumers) or heterogeneous (generators to consumer nodes and vice versa) edges is not obvious on the synchronizability of oscillatory power network. However, for the edge-adding number, it is observed that the bigger heterogeneous edge-adding number, the stronger synchronizability of power network will be. Furthermore, the homogeneous edge-adding number does not affect the synchronizability of oscillatory power network.

  9. Tailoring of Boehmite-Derived Aluminosilicate Aerogel Structure and Properties: Influence of Ti Addition

    NASA Technical Reports Server (NTRS)

    Hurwitz, Frances I.; Guo, Haiquan; Sheets, Erik J.; Miller, Derek R.; Newlin, Katy N.

    2010-01-01

    Aluminosilicate aerogels offer potential for extremely low thermal conductivities at temperatures greater than 900 C, beyond where silica aerogels reach their upper temperature limits. Aerogels have been synthesized at various Al:Si ratios, including mullite compositions, using Boehmite (AlOOH) as the Al source, and tetraethoxy orthosilicate as the Si precursor. The Boehmite-derived aerogels are found to form by a self-assembly process of AlOOH crystallites, with Si-O groups on the surface of an alumina skeleton. Morphology, surface area and pore size varies with the crystallite size of the starting Boehmite powder, as well as with synthesis parameters. Ternary systems, including Al-Si-Ti aerogels incorporating a soluble Ti precursor, are possible with careful control of pH. The addition of Ti influences sol viscosity, gelation time pore structure and pore size distribution, as well as phase formation on heat treatment.

  10. Influence of additive laser manufacturing parameters on surface using density of partially melted particles

    NASA Astrophysics Data System (ADS)

    Rosa, Benoit; Brient, Antoine; Samper, Serge; Hascoët, Jean-Yves

    2016-12-01

    Mastering the additive laser manufacturing surface is a real challenge and would allow functional surfaces to be obtained without finishing. Direct Metal Deposition (DMD) surfaces are composed by directional and chaotic textures that are directly linked to the process principles. The aim of this work is to obtain surface topographies by mastering the operating process parameters. Based on experimental investigation, the influence of operating parameters on the surface finish has been modeled. Topography parameters and multi-scale analysis have been used in order to characterize the DMD obtained surfaces. This study also proposes a methodology to characterize DMD chaotic texture through topography filtering and 3D image treatment. In parallel, a new parameter is proposed: density of particles (D p). Finally, this study proposes a regression modeling between process parameters and density of particles parameter.

  11. Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities.

    PubMed

    Beaty, Terri H; Marazita, Mary L; Leslie, Elizabeth J

    2016-01-01

    Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which combined represent the largest group of craniofacial malformations in humans with an overall prevalence of one per 1,000 live births. Each of these birth defects shows strong familial aggregation, suggesting a major genetic component to their etiology. Genetic studies of orofacial clefts extend back centuries, but it has proven difficult to define any single etiologic mechanism because many genes appear to influence risk. Both linkage and association studies have identified several genes influencing risk, but these differ across families and across populations. Genome-wide association studies have identified almost two dozen different genes achieving genome-wide significance, and there are broad classes of 'causal genes' for orofacial clefts: a few genes strongly associated with risk and possibly directly responsible for Mendelian syndromes which include orofacial clefts as a key phenotypic feature of the syndrome, and multiple genes with modest individual effects on risk but capable of disrupting normal craniofacial development under the right circumstances (which may include exposure to environmental risk factors). Genomic sequencing studies are now underway which will no doubt reveal additional genes/regions where variants (sequence and structural) can play a role in controlling risk to orofacial clefts. The real challenge to medicine and public health is twofold: to identify specific genes and other etiologic factors in families with affected members and then to devise effective interventions for these different biological mechanisms controlling risk to complex and heterogeneous birth defects such as orofacial clefts.

  12. Genetic factors influencing risk to orofacial clefts: today’s challenges and tomorrow’s opportunities

    PubMed Central

    Beaty, Terri H.; Marazita, Mary L.; Leslie, Elizabeth J.

    2016-01-01

    Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which combined represent the largest group of craniofacial malformations in humans with an overall prevalence of one per 1,000 live births. Each of these birth defects shows strong familial aggregation, suggesting a major genetic component to their etiology. Genetic studies of orofacial clefts extend back centuries, but it has proven difficult to define any single etiologic mechanism because many genes appear to influence risk. Both linkage and association studies have identified several genes influencing risk, but these differ across families and across populations. Genome-wide association studies have identified almost two dozen different genes achieving genome-wide significance, and there are broad classes of ‘causal genes’ for orofacial clefts: a few genes strongly associated with risk and possibly directly responsible for Mendelian syndromes which include orofacial clefts as a key phenotypic feature of the syndrome, and multiple genes with modest individual effects on risk but capable of disrupting normal craniofacial development under the right circumstances (which may include exposure to environmental risk factors). Genomic sequencing studies are now underway which will no doubt reveal additional genes/regions where variants (sequence and structural) can play a role in controlling risk to orofacial clefts. The real challenge to medicine and public health is twofold: to identify specific genes and other etiologic factors in families with affected members and then to devise effective interventions for these different biological mechanisms controlling risk to complex and heterogeneous birth defects such as orofacial clefts. PMID:27990279

  13. Vacuum infusion equipment design and the influence of reinforcement layers addition to the resin infusion time

    NASA Astrophysics Data System (ADS)

    Saputra, A. H.; Setyarso, G.

    2016-11-01

    The characteristic of composite material is greatly influenced by the manufacture method of composite. The conventional method that has been used such as hand lay-up and spray up are simple and easy to apply but the composite tend to have a void in it because of the air trapped during the manufacture process. Vacuum infusion is one of the modern composite manufacture process which can replace the conventional method. The problem of this method happens when the resin infusion time become longer due to the addition of reinforcement layers. When the resin infusion time is longer than the resin's gel time, the resin will become gel and not able to flow into the mold. In order to overcome this problem, a study that observe the influence of reinforcement layers addition to the resin infusion time is needed. In this study, vacuum infusion equipment for composite materials manufacturing process that are designed consists of: 1×1m glass as the mold, 1L PVC tube for the resin container, 1L glass tube for the resin trap, and ‘A HP vacuum pump with 7 CFM vacuum speed. The resin that is used in this study is unsaturated polyester resin (UPR) and the fiber used as reinforcement is fiber glass. It is observed that the more number of reinforcement layers the longer resin infusion time will be. The resin infusion time (in seconds) from two until six layers respectively for the area of 15×20cm are: 88, 115, 145, 174, 196; for the area of 15×25cm are: 119, 142, 168, 198, 235; and for the area of 15×35cm are: 181, 203, 235, 263, 303. The maximum reinforcement layers that can be accommodated for each 15×20cm, 15×25cm, and 15×35cm area are respectively 31 layers, 29 layers, and 25 layers.

  14. Replication of a gene-environment interaction Via Multimodel inference: additive-genetic variance in adolescents' general cognitive ability increases with family-of-origin socioeconomic status.

    PubMed

    Kirkpatrick, Robert M; McGue, Matt; Iacono, William G

    2015-03-01

    The present study of general cognitive ability attempts to replicate and extend previous investigations of a biometric moderator, family-of-origin socioeconomic status (SES), in a sample of 2,494 pairs of adolescent twins, non-twin biological siblings, and adoptive siblings assessed with individually administered IQ tests. We hypothesized that SES would covary positively with additive-genetic variance and negatively with shared-environmental variance. Important potential confounds unaddressed in some past studies, such as twin-specific effects, assortative mating, and differential heritability by trait level, were found to be negligible. In our main analysis, we compared models by their sample-size corrected AIC, and base our statistical inference on model-averaged point estimates and standard errors. Additive-genetic variance increased with SES-an effect that was statistically significant and robust to model specification. We found no evidence that SES moderated shared-environmental influence. We attempt to explain the inconsistent replication record of these effects, and provide suggestions for future research.

  15. Replication of a Gene-Environment Interaction via Multimodel Inference: Additive-Genetic Variance in Adolescents’ General Cognitive Ability Increases with Family-of-Origin Socioeconomic Status

    PubMed Central

    Kirkpatrick, Robert M.; McGue, Matt; Iacono, William G.

    2015-01-01

    The present study of general cognitive ability attempts to replicate and extend previous investigations of a biometric moderator, family-of-origin socioeconomic status (SES), in a sample of 2,494 pairs of adolescent twins, non-twin biological siblings, and adoptive siblings assessed with individually administered IQ tests. We hypothesized that SES would covary positively with additive-genetic variance and negatively with shared-environmental variance. Important potential confounds unaddressed in some past studies, such as twin-specific effects, assortative mating, and differential heritability by trait level, were found to be negligible. In our main analysis, we compared models by their sample-size corrected AIC, and base our statistical inference on model-averaged point estimates and standard errors. Additive-genetic variance increased with SES—an effect that was statistically significant and robust to model specification. We found no evidence that SES moderated shared-environmental influence. We attempt to explain the inconsistent replication record of these effects, and provide suggestions for future research. PMID:25539975

  16. Influence of oxygen partial pressure and silver additions on microstructure and related properties of YBCO superconductors

    SciTech Connect

    Singh, J.P.; Joo, J.; Guttschow, R.; Poeppel, R.B.

    1992-02-01

    Microstructure has a great influence on the mechanical and superconducting properties of YBCO. Mechanical properties of YBCO can be improved by both modifying the monolithic microstructure and developing composites of YBCO with silver (Ag). When monolithic YBCO was sintered to high densities ({approx} 91%) at a relatively low temperature ({approx} 910{degrees}C) by controlling oxygen partial pressure during sintering, the result was a small-grain microstructure (average grain size {approx} 5 {mu}m) and hence a high strength of 191 {plus_minus} 7 MPa. Addition of Ag as a second phase further improved the strength of YBCO. Composites of YBCO with 10 to 15 vol % Ag has a strength of 225 {plus_minus} 6 MPa and a fracture toughness of 3.3 {plus_minus} 0.2 MPa{radical}m. These improvements are believed to be due to compressive stresses in the YBCO matrix as a result of thermal mismatch between the YBCO and Ag phases. Furthermore, the Ag particles may provide increased resistance to crack propagation by pinning the crack. On the other hand, addition of Ag as a dopant to substitute for Cu sites in YBCO has a profound but nonmonotonic effect on grain microstructure and the resulting critical current density.

  17. Influence of oxygen partial pressure and silver additions on microstructure and related properties of YBCO superconductors

    SciTech Connect

    Singh, J.P.; Joo, J.; Guttschow, R.; Poeppel, R.B.

    1992-02-01

    Microstructure has a great influence on the mechanical and superconducting properties of YBCO. Mechanical properties of YBCO can be improved by both modifying the monolithic microstructure and developing composites of YBCO with silver (Ag). When monolithic YBCO was sintered to high densities ({approx} 91%) at a relatively low temperature ({approx} 910{degrees}C) by controlling oxygen partial pressure during sintering, the result was a small-grain microstructure (average grain size {approx} 5 {mu}m) and hence a high strength of 191 {plus minus} 7 MPa. Addition of Ag as a second phase further improved the strength of YBCO. Composites of YBCO with 10 to 15 vol % Ag has a strength of 225 {plus minus} 6 MPa and a fracture toughness of 3.3 {plus minus} 0.2 MPa{radical}m. These improvements are believed to be due to compressive stresses in the YBCO matrix as a result of thermal mismatch between the YBCO and Ag phases. Furthermore, the Ag particles may provide increased resistance to crack propagation by pinning the crack. On the other hand, addition of Ag as a dopant to substitute for Cu sites in YBCO has a profound but nonmonotonic effect on grain microstructure and the resulting critical current density.

  18. Genetic evidence for an additional function of phage T4 gene 32 protein: interaction with ligase.

    PubMed

    Mosig, G; Breschkin, A M

    1975-04-01

    Gene 32 of bacteriophage T4 is essential for DNA replication, recombination, and repair. In an attempt to clarify the role of the corresponding gene product, we have looked for mutations that specifically inactivate one but not all of its functions and for compensating suppressor mutations in other genes. Here we describe a gene 32 ts mutant that does not produce progeny, but in contrast to an am mutant investigated by others, is capable of some primary and secondary DNA replication and of forming "joint" recombinational intermediates after infection of Escherichia coli B at the restrictive temperature. However, parental and progeny DNA strands are not ligated to covalently linked "recombinant" molecules, and single strands of vegetative DNA do not exceed unit length. Progeny production as well as capacity for covalent linkage in this gene 32 ts mutant are partially restored by additional rII mutations. Suppression by rII depends on functioning host ligase [EC 6.5.1.2; poly(deoxyribonucleotide):poly(deoxyribonucleotide) ligase (AMP-forming, NMN-forming)]. This gene 32 ts mutation (unlike some others) in turn suppresses the characteristic plaque morphology of rII mutants. We conclude that gene 32 protein, in addition to its role in DNA replication and in the formation of "joint" recombinational intermediates, interacts with T4 ligase [EC 6.5.1.1; poly(deoxyribonucleotide):poly(deoxyribonucleotide) ligase (AMP-forming)] when recombining DNA strands are covalently linked. The protein of the mutant that we describe here is mainly defective in this interaction, thus inactivating T4 ligase in recombination. Suppressing rII mutations facilitate substitution of host ligase. There is suggestive evidence that these interactions occur at the membrane.

  19. Genetic variation in offspring indirectly influences the quality of maternal behaviour in mice.

    PubMed

    Ashbrook, David George; Gini, Beatrice; Hager, Reinmar

    2015-12-23

    Conflict over parental investment between parent and offspring is predicted to lead to selection on genes expressed in offspring for traits influencing maternal investment, and on parentally expressed genes affecting offspring behaviour. However, the specific genetic variants that indirectly modify maternal or offspring behaviour remain largely unknown. Using a cross-fostered population of mice, we map maternal behaviour in genetically uniform mothers as a function of genetic variation in offspring and identify loci on offspring chromosomes 5 and 7 that modify maternal behaviour. Conversely, we found that genetic variation among mothers influences offspring development, independent of offspring genotype. Offspring solicitation and maternal behaviour show signs of coadaptation as they are negatively correlated between mothers and their biological offspring, which may be linked to costs of increased solicitation on growth found in our study. Overall, our results show levels of parental provisioning and offspring solicitation are unique to specific genotypes.

  20. Influence of molybdenum silicide additions on high-temperature oxidation resistance of silicon nitride materials

    SciTech Connect

    Klemm, H.; Tangermann, K.; Schubert, C.; Hermel, W.

    1996-09-01

    The influence of additions of molybdenum disilicide (MoSi{sub 2}) on the microstructure and the mechanical properties of a silicon nitride (Si{sub 3}N{sub 4}) material, with neodymium oxide (Nd{sub 2}O{sub 3}) and aluminum nitride (AlN) as sintering aids, was studied. The composites, containing 5, 10, and 17.6 wt% MoSi{sub 2}, were fabricated by hot pressing. All materials exhibited a similar phase composition, detected by X-ray diffractometry. Up to MoSi{sub 2} additions of 10 wt%, mechanical properties such as strength, fracture toughness, or creep at 1,400 C were not affected significantly, in comparison to that of monolithic Si{sub 3}N{sub 4}. The oxidation resistance of the composites, in terms of weight gain, degraded. After 1,000 h of oxidation at 1,400 and 1,450 C in air, a greater weight gain (by a factor of approximately three) was obtained, in comparison to that of the material without MoSi{sub 2}. Nevertheless, after 1,000 h of oxidation, the degradation in strength of the composites was considerably less severe than that of the material without MoSi{sub 2}. An additional layer was formed, caused by processes at the surface of the Si{sub 3}N{sub 4} material, preventing the formation of pores, cracks, or glassy-phase-rich areas, which are common features of oxidation damage in Si{sub 3}N{sub 4} materials. This surface layer, containing Mo{sub 5}Si{sub 3} and silicon oxynitride (Si{sub 2}ON{sub 2}), was the result of reactions between MoSi{sub 2}, Si{sub 3}N{sub 4}, and the oxygen penetrating by diffusion into the material during the high-temperature treatment.

  1. Under the Influence of Genetics: How Transdisciplinarity Leads Us to Rethink Social Pathways to Illness

    PubMed Central

    Pescosolido, Bernice A.; Perry, Brea L.; Long, J. Scott; Martin, Jack K.; Nurnberger, John I.; Hesselbrock, Victor

    2015-01-01

    To extend our understanding of how social structures and social processes impact behavior, sociologists have been challenged to incorporate the potential explanatory role of genetics in their models. Here, we draw propositions from three major understandings of illness causation offered by social theory – fundamental causes, social stress processes, and social safety net theories. We tailor hypotheses to the case of alcohol dependence, long considered a multifaceted problem, defying simple explanation and having both biological and social roots. After briefly reviewing current appeals for transdisciplinary research, we describe both sociological and genetic theories, and derive propositions expected under each and under a transdisciplinary theoretical frame. Analyses of a later wave of the preeminent medical science study, the Collaborative Study on the Genetics of Alcoholism (COGA), reveals a complex interplay of how the GABRA2 gene works with and against social structural factors to produce cases meeting DSM/ICD diagnoses. When both genetic and social factors are controlled, virtually equivalent effects of each remain; and, only modest evidence suggests that genetic influence works through social structural conditions and experiences. Further exploratory analyses using multiplicative terms reveal enhanced gene-environment interactions: 1) women are largely unaffected in their risk for alcohol dependence by allele status at this candidate gene; 2) family support attenuates genetic influence; 3) childhood deprivation exacerbates genetic predispositions. We discuss how these findings lead us to consider the essential intradisciplinary tension in sociological theories (i.e., the role of proximal and distal influences in social processes). Overall, our findings point to the promise of theories blending social and genetic influences by focusing directly on dynamic, networked sequences that produce different pathways to health and illness. PMID:19569404

  2. Influence of a Small Fraction of Individuals with Enhanced Mutations on a Population Genetic Pool

    NASA Astrophysics Data System (ADS)

    Cebrat, S.; Stauffer, D.

    It has been observed that a higher mutation load could be introduced into the genomes of children conceived by assisted reproduction technology (fertilization in-vitro). This generates two effects — slightly higher mutational pressure on the whole genetic pool of population and inhomogeneity of mutation distributions in the genetic pool. Computer simulations of the Penna ageing model suggest that already a small fraction of births with enhanced number of new mutations can negatively influence the whole population.

  3. Developmentally dynamic genome: Evidence of genetic influences on increases and decreases in conduct problems from early childhood to adolescence.

    PubMed

    Pingault, Jean-Baptiste; Rijsdijk, Frühling; Zheng, Yao; Plomin, Robert; Viding, Essi

    2015-05-06

    The development of conduct problems in childhood and adolescence is associated with adverse long-term outcomes, including psychiatric morbidity. Although genes constitute a proven factor of stability in conduct problems, less is known regarding their role in conduct problems' developmental course (i.e. systematic age changes, for instance linear increases or decreases).Mothers rated conduct problems from age 4 to 16 years in 10,038 twin pairs from the Twins Early Development Study. Individual differences in the baseline level (.78; 95% CI: .68-.88) and the developmental course of conduct problems (.73; 95% CI: .60-.86) were under high and largely independent additive genetic influences. Shared environment made a small contribution to the baseline level but not to the developmental course of conduct problems. These results show that genetic influences not only contribute to behavioural stability but also explain systematic change in conduct problems. Different sets of genes may be associated with the developmental course versus the baseline level of conduct problems. The structure of genetic and environmental influences on the development of conduct problems suggests that repeated preventive interventions at different developmental stages might be necessary to achieve a long-term impact.

  4. Added value measures in education show genetic as well as environmental influence.

    PubMed

    Haworth, Claire M A; Asbury, Kathryn; Dale, Philip S; Plomin, Robert

    2011-02-02

    Does achievement independent of ability or previous attainment provide a purer measure of the added value of school? In a study of 4000 pairs of 12-year-old twins in the UK, we measured achievement with year-long teacher assessments as well as tests. Raw achievement shows moderate heritability (about 50%) and modest shared environmental influences (25%). Unexpectedly, we show that for indices of the added value of school, genetic influences remain moderate (around 50%), and the shared (school) environment is less important (about 12%). The pervasiveness of genetic influence in how and how much children learn is compatible with an active view of learning in which children create their own educational experiences in part on the basis of their genetic propensities.

  5. Genetic and environmental influences on word recognition and spelling deficits as a function of age.

    PubMed

    Friend, Angela; DeFries, John C; Wadsworth, Sally J; Olson, Richard K

    2007-05-01

    Previous twin studies have suggested a possible developmental dissociation between genetic influences on word recognition and spelling deficits, wherein genetic influence declined across age for word recognition, and increased for spelling recognition. The present study included two measures of word recognition (timed, untimed) and two measures of spelling (recognition, production) in younger and older twins. The heritability estimates for the two word recognition measures were .65 (timed) and .64 (untimed) in the younger group and .65 and .58 respectively in the older group. For spelling, the corresponding estimates were .57 (recognition) and .51 (production) in the younger group and .65 and .67 in the older group. Although these age group differences were not significant, the pattern of decline in heritability across age for reading and increase for spelling conformed to that predicted by the developmental dissociation hypothesis. However, the tests for an interaction between genetic influences on word recognition and spelling deficits as a function of age were not significant.

  6. NK Cell Proportion and Number Are Influenced by Genetic Loci on Chromosomes 8, 9, and 17.

    PubMed

    Pelletier, Adam-Nicolas; Guilbault, Lorie; Guimont-Desrochers, Fanny; Hillhouse, Erin E; Lesage, Sylvie

    2016-03-15

    NK cells play a crucial role in innate immunity due to their direct cytotoxicity toward tumors, virally infected cells, and stressed cells, and they also contribute to the orchestration of the adaptive response by their ability to produce immunoregulatory cytokines. In secondary lymphoid organs, NK cells compose the third most abundant lymphocyte subset after T cells and B cells. In this study, we perform an unbiased linkage analysis to determine the genetic loci that may limit the size of the NK cell compartment. Specifically, we exploit differences in NK cell proportion and absolute number between the C57BL/6 and the NOD mice. In addition to the previously identified linkage to chromosome 8, we find that a locus on chromosome 17, which encompasses the MHC locus, impacts NK cell number. Moreover, we identify a locus on mouse chromosome 9 that is strongly linked to the proportion and absolute number of NK cells. Using NOD congenic mice, we validate that both the MHC and the chromosome 9 loci influence the proportion and absolute number of NK cells. We have thus identified additional loci specifically linked to the proportion of NK cells and present some of the potential candidate genes comprised within these loci.

  7. The genetic influence on radiographic osteoarthritis is site specific at the hand, hip and knee

    PubMed Central

    Li, Q.; Spector, T. D.; Williams, F. M. K.

    2009-01-01

    Objective. To identify whether a shared genetic influence accounts for the occurrence of OA at different skeletal sites. Methods. Multivariate modelling of data on prevalent radiographic OA at the hand (DIP, PIP and CMC joints), hip and knee joints assessed in 992 monozygotic and dizygotic female twin participants from the TwinsUK Registry. Results. OA at all the five joint sites was heritable. Genetic influences were strongly correlated among joints in the hand; however, there was little evidence of common genetic pathways to account for the co-occurrence of OA at the hand, hip and knee. Conclusions. While genetic influences are important in explaining the variation in occurrence of OA at the hand, hip and knee, there is no evidence that common or shared genetic factors determine the occurrence of disease across all these skeletal sites. The findings suggest that there are important aetiological differences in the disease that are site-specific in women. These results have implications for the design of studies examining the genetic basis of OA as well as for strategies aimed at preventing and treating the disease. PMID:19153142

  8. The relative influence of habitat amount and configuration on genetic structure across multiple spatial scales

    PubMed Central

    Millette, Katie L; Keyghobadi, Nusha

    2015-01-01

    Despite strong interest in understanding how habitat spatial structure shapes the genetics of populations, the relative importance of habitat amount and configuration for patterns of genetic differentiation remains largely unexplored in empirical systems. In this study, we evaluate the relative influence of, and interactions among, the amount of habitat and aspects of its spatial configuration on genetic differentiation in the pitcher plant midge, Metriocnemus knabi. Larvae of this species are found exclusively within the water-filled leaves of pitcher plants (Sarracenia purpurea) in a system that is naturally patchy at multiple spatial scales (i.e., leaf, plant, cluster, peatland). Using generalized linear mixed models and multimodel inference, we estimated effects of the amount of habitat, patch size, interpatch distance, and patch isolation, measured at different spatial scales, on genetic differentiation (FST) among larval samples from leaves within plants, plants within clusters, and clusters within peatlands. Among leaves and plants, genetic differentiation appears to be driven by female oviposition behaviors and is influenced by habitat isolation at a broad (peatland) scale. Among clusters, gene flow is spatially restricted and aspects of both the amount of habitat and configuration at the focal scale are important, as is their interaction. Our results suggest that both habitat amount and configuration can be important determinants of genetic structure and that their relative influence is scale dependent. PMID:25628865

  9. The relative influence of habitat amount and configuration on genetic structure across multiple spatial scales.

    PubMed

    Millette, Katie L; Keyghobadi, Nusha

    2015-01-01

    Despite strong interest in understanding how habitat spatial structure shapes the genetics of populations, the relative importance of habitat amount and configuration for patterns of genetic differentiation remains largely unexplored in empirical systems. In this study, we evaluate the relative influence of, and interactions among, the amount of habitat and aspects of its spatial configuration on genetic differentiation in the pitcher plant midge, Metriocnemus knabi. Larvae of this species are found exclusively within the water-filled leaves of pitcher plants (Sarracenia purpurea) in a system that is naturally patchy at multiple spatial scales (i.e., leaf, plant, cluster, peatland). Using generalized linear mixed models and multimodel inference, we estimated effects of the amount of habitat, patch size, interpatch distance, and patch isolation, measured at different spatial scales, on genetic differentiation (F ST) among larval samples from leaves within plants, plants within clusters, and clusters within peatlands. Among leaves and plants, genetic differentiation appears to be driven by female oviposition behaviors and is influenced by habitat isolation at a broad (peatland) scale. Among clusters, gene flow is spatially restricted and aspects of both the amount of habitat and configuration at the focal scale are important, as is their interaction. Our results suggest that both habitat amount and configuration can be important determinants of genetic structure and that their relative influence is scale dependent.

  10. The influence of mitonuclear genetic variation on personality in seed beetles

    PubMed Central

    Løvlie, Hanne; Immonen, Elina; Gustavsson, Emil; Kazancioğlu, Erem; Arnqvist, Göran

    2014-01-01

    There is a growing awareness of the influence of mitochondrial genetic variation on life-history phenotypes, particularly via epistatic interactions with nuclear genes. Owing to their direct effect on traits such as metabolic and growth rates, mitonuclear interactions may also affect variation in behavioural types or personalities (i.e. behavioural variation that is consistent within individuals, but differs among individuals). However, this possibility is largely unexplored. We used mitonuclear introgression lines, where three mitochondrial genomes were introgressed into three nuclear genetic backgrounds, to disentangle genetic effects on behavioural variation in a seed beetle. We found within-individual consistency in a suite of activity-related behaviours, providing evidence for variation in personality. Composite measures of overall activity of individuals in behavioural assays were influenced by both nuclear genetic variation and by the interaction between nuclear and mitochondrial genomes. More importantly, the degree of expression of behavioural and life-history phenotypes was correlated and mitonuclear genetic variation affected expression of these concerted phenotypes. These results show that mitonuclear genetic variation affects both behavioural and life-history traits, and they provide novel insights into the maintenance of genetic variation in behaviour and personality. PMID:25320161

  11. The influence of mitonuclear genetic variation on personality in seed beetles.

    PubMed

    Løvlie, Hanne; Immonen, Elina; Gustavsson, Emil; Kazancioğlu, Erem; Arnqvist, Göran

    2014-12-07

    There is a growing awareness of the influence of mitochondrial genetic variation on life-history phenotypes, particularly via epistatic interactions with nuclear genes. Owing to their direct effect on traits such as metabolic and growth rates, mitonuclear interactions may also affect variation in behavioural types or personalities (i.e. behavioural variation that is consistent within individuals, but differs among individuals). However, this possibility is largely unexplored. We used mitonuclear introgression lines, where three mitochondrial genomes were introgressed into three nuclear genetic backgrounds, to disentangle genetic effects on behavioural variation in a seed beetle. We found within-individual consistency in a suite of activity-related behaviours, providing evidence for variation in personality. Composite measures of overall activity of individuals in behavioural assays were influenced by both nuclear genetic variation and by the interaction between nuclear and mitochondrial genomes. More importantly, the degree of expression of behavioural and life-history phenotypes was correlated and mitonuclear genetic variation affected expression of these concerted phenotypes. These results show that mitonuclear genetic variation affects both behavioural and life-history traits, and they provide novel insights into the maintenance of genetic variation in behaviour and personality.

  12. The influence of compost addition on the water repellency of brownfield soils

    NASA Astrophysics Data System (ADS)

    Whelan, Amii; Kechavarzi, Cedric; Sakrabani, Ruben; Coulon, Frederic; Simmons, Robert; Wu, Guozhong

    2010-05-01

    Compost application to brownfield sites, which can facilitate the stabilisation and remediation of contaminants whilst providing adequate conditions for plant growth, is seen as an opportunity to divert biodegradable wastes from landfill and put degraded land back into productive use. However, although compost application is thought to improve soil hydraulic functioning, there is a lack of information on the impact of large amounts of compost on soil water repellency. Water repellency in soils is attributed to the accumulation of hydrophobic organic compounds released as root exudates, fungal and microbial by-products and decomposition of organic matter. It has also been shown that brownfield soils contaminated with petroleum-derived organic contaminants can exhibit strong water repellency, preventing the rapid infiltration of water and leading potentially to surface run off and erosion of contaminated soil. However, hydrophobic organic contaminants are known to become sequestrated by partitioning into organic matter or diffusing into nano- and micropores, making them less available over time (ageing). The effect of large amounts of organic matter addition through compost application on the water repellency of soils contaminated with petroleum-derived organic contaminants requires further investigation. We characterised the influence of compost addition on water repellency in the laboratory by measuring the Water Drop Penetration Time (WDPT), sorptivity and water repellency index through infiltration experiments on soil samples amended with two composts made with contrasting feedstocks (green waste and predominantly meat waste). The treatments consisted of a sandy loam, a clay loam and a sandy loam contaminated with diesel fuel and aged for 3 years, which were amended with the two composts at a rate equivalent to 750t/ha. In addition core samples collected from a brownfield site, amended with compost at three different rates (250, 500 and 750t/ha) in 2007, were

  13. Understanding the cognitive and genetic underpinnings of procrastination: Evidence for shared genetic influences with goal management and executive function abilities.

    PubMed

    Gustavson, Daniel E; Miyake, Akira; Hewitt, John K; Friedman, Naomi P

    2015-12-01

    Previous research has suggested that individual differences in procrastination are tied to everyday goal-management abilities, but little research has been conducted on specific cognitive abilities that may underlie tendencies for procrastination, such as executive functions (EFs). In this study, we used behavioral genetics methodology to investigate 2 hypotheses about the relationships between procrastination and EF ability: (a) that procrastination is negatively correlated with general EF ability, and (b) that this relationship is due to the genetic components of procrastination that are most related to other everyday goal-management abilities. The results confirmed both of these hypotheses. Procrastination was related to worse general EF ability at both the phenotypic and genetic levels, and this relationship was due to the component of procrastination shared with self-report measures of everyday goal-management failures. These results were observed even after controlling for potential self-report biases stemming from the urge to respond in a socially desirable manner. Together, these findings provide strong evidence for growing theories of procrastination emphasizing the importance of goal-related cognitive abilities and further highlight important genetic influences that underlie procrastination.

  14. Understanding the Cognitive and Genetic Underpinnings of Procrastination: Evidence for Shared Genetic Influences with Goal Management and Executive Function Abilities

    PubMed Central

    Gustavson, Daniel E.; Miyake, Akira; Hewitt, John K.; Friedman, Naomi P.

    2015-01-01

    Previous research has suggested that individual differences in procrastination are tied to everyday goal-management abilities, but little research has been conducted on specific cognitive abilities that may underlie tendencies for procrastination, such as executive functions (EFs). In this study, we used behavioral genetics methodology to investigate two hypotheses about the relationships between procrastination and EF ability: (a) that procrastination is negatively correlated with general EF ability, and (b) that this relationship is due to the genetic components of procrastination that are most related to other everyday goal-management abilities. The results confirmed both of these hypotheses. Procrastination was related to worse general EF ability at both the phenotypic and genetic levels, and this relationship was due to the component of procrastination shared with self-report measures of everyday goal-management failures. These results were observed even after controlling for potential self-report biases stemming from the urge to respond in a socially desirable manner. Together, these findings provide strong evidence for growing theories of procrastination emphasizing the importance of goal-related cognitive abilities and further highlight important genetic influences that underlie procrastination. PMID:26389573

  15. The influence of altitude and topography on genetic structure in the long-toed salamander (Ambystoma macrodactulym).

    PubMed

    Giordano, Andrew R; Ridenhour, Benjamin J; Storfer, Andrew

    2007-04-01

    A primary goal of molecular ecology is to understand the influence of abiotic factors on the spatial distribution of genetic variation. Features including altitudinal clines, topography and landscape characteristics affect the proportion of suitable habitat, influence dispersal patterns, and ultimately structure genetic differentiation among populations. We studied the effects of altitude and topography on genetic variation of long-toed salamanders (Ambystoma macrodactylum), a geographically widespread amphibian species throughout northwestern North America. We focused on 10 low altitude sites (< 1200 m) and 11 high-altitude sites in northwestern Montana and determined multilocus genotypes for 549 individuals using seven microsatellite loci. We tested four hypotheses: (1) gene flow is limited between high- and low-altitude sites; and, (2) gene flow is limited among high-altitude sites due to harsh habitat and extreme topographical relief between sites; (3) low-altitude sites exhibit higher among-site gene flow due to frequent flooding events and low altitudinal relief; and (4) there is a negative correlation between altitude and genetic variation. Overall F(ST) values were moderate (0.08611; P < 0.001). Pairwise F(ST) estimates between high and low populations and a population graphing method supported the hypothesis that low-altitude and high-altitude sites, taken together, are genetically differentiated from each other. Also as predicted, gene flow is more prominent among low-altitude sites than high-altitude sites; low-altitude sites had a significantly lower F(ST) (0.03995; P < 0.001) than high altitude sites (F(ST) = 0.10271; P < 0.001). Use of Bayesian analysis of population structure (BAPS) resulted in delineation of 10 genetic groups, two among low-altitude populations and eight among high-altitude populations. In addition, within high altitude populations, basin-level genetic structuring was apparent. A nonequilibrium algorithm for detecting current

  16. Influence of genetic background on fluoride metabolism in mice.

    PubMed

    Carvalho, J G; Leite, A L; Yan, D; Everett, E T; Whitford, G M; Buzalaf, M A R

    2009-11-01

    A/J and 129P3/J mouse strains have different susceptibilities to dental fluorosis, due to their genetic backgrounds. This study tested whether these differences are due to variations in water intake and/or F metabolism. A/J (susceptible to dental fluorosis) and 129P3/J mice (resistant) received drinking water containing 0, 10, or 50 ppm F. Weekly F intake, excretion and retention, and terminal plasma and femur F levels were determined. Dental fluorosis was evaluated clinically and by quantitative fluorescence (QF). Data were tested by two-way ANOVA. Although F intakes by the strains were similar, excretion by A/J mice was significantly higher due to greater urinary F excretion, which resulted in lower plasma and femur F levels. Compared with 129P3/J mice given 50 ppm F, significantly higher QF scores were recorded for A/J mice. In conclusion, these strains differ with respect to several features of F metabolism, and amelogenesis in the 129P3/J strain seems to be unaffected by high F exposure.

  17. Influence of Genetic Background on Fluoride Metabolism in Mice

    PubMed Central

    Carvalho, J.G.; Leite, A.L.; Yan, D.; Everett, E.T.; Whitford, G.M.; Buzalaf, M.A.R.

    2009-01-01

    A/J and 129P3/J mouse strains have different susceptibilities to dental fluorosis, due to their genetic backgrounds. This study tested whether these differences are due to variations in water intake and/or F metabolism. A/J (susceptible to dental fluorosis) and 129P3/J mice (resistant) received drinking water containing 0, 10, or 50 ppm F. Weekly F intake, excretion and retention, and terminal plasma and femur F levels were determined. Dental fluorosis was evaluated clinically and by quantitative fluorescence (QF). Data were tested by two-way ANOVA. Although F intakes by the strains were similar, excretion by A/J mice was significantly higher due to greater urinary F excretion, which resulted in lower plasma and femur F levels. Compared with 129P3/J mice given 50 ppm F, significantly higher QF scores were recorded for A/J mice. In conclusion, these strains differ with respect to several features of F metabolism, and amelogenesis in the 129P3/J strain seems to be unaffected by high F exposure. PMID:19828896

  18. Genetic and phenotypic influences on copulatory plug survival in mice

    PubMed Central

    Mangels, R; Young, B; Keeble, S; Ardekani, R; Meslin, C; Ferreira, Z; Clark, N L; Good, J M; Dean, M D

    2015-01-01

    Across a diversity of animals, male seminal fluid coagulates upon ejaculation to form a hardened structure known as a copulatory plug. Previous studies suggest that copulatory plugs evolved as a mechanism for males to impede remating by females, but detailed investigations into the time course over which plugs survive in the female's reproductive tract are lacking. Here, we cross males from eight inbred strains to females from two inbred strains of house mice (Mus musculus domesticus). Plug survival was significantly affected by male genotype. Against intuition, plug survival time was negatively correlated with plug size: long-lasting plugs were small and relatively more susceptible to proteolysis. Plug size was associated with divergence in major protein composition of seminal vesicle fluid, suggesting that changes in gene expression may play an important role in plug dynamics. In contrast, we found no correlation to genetic variation in the protein-coding regions of five genes thought to be important in copulatory plug formation (Tgm4, Svs1, Svs2, Svs4 and Svs5). Our study demonstrates a complex relationship between copulatory plug characteristics and survival. We discuss several models to explain unexpected variation in plug phenotypes. PMID:26103947

  19. Influence of the order of reagent addition on NDMA formation during chloramination.

    PubMed

    Schreiber, I Marie; Mitch, William A

    2005-05-15

    The formation of the potent carcinogen, N-nitrosodimethylamine (NDMA), during chlorine disinfection has caused significant concern among drinking water and wastewater recycling utilities practicing intentional or unintentional chloramination. Previous research modeled NDMA formation as arising from a reaction between monochloramine and organic nitrogen precursors, such as dimethylamine, via an unsymmetrical dimethylhydrazine (UDMH) intermediate. Contrary to the importance of monochloramine indicated by previous studies, hypochlorite formed an order of magnitude more NDMA than monochloramine when applied to a secondary municipal wastewater effluent containing excess ammonia. Experiments involving variation of the order that each reagent (i.e., hypochlorite, ammonium chloride, and dimethylamine) was added to solution suggest two factors that may be more important for NDMA formation than the presence of monochloramine: (i) the chlorination state of organic nitrogen precursors and (ii) the partial formation of dichloramine. Although dichloramine formation was most influenced by the pH conditions under which inorganic chloramine formation was performed, mixing effects related to the order of reagent addition may be important at full-scale plants. Chloramination strategies are suggested that may reduce NDMA formation by nearly an order of magnitude.

  20. Influence of Lubricant Additives on Friction and Wear Characteristics of Compressor parts under the Alternative Refrigerant

    NASA Astrophysics Data System (ADS)

    Yamaguchi, Hidehiro; Imai, Hachiro; Yamamoto, Tetsuya; Yamamoto, Tsutomu; Ueki, Yutaka; Takizawa, Kikuo; Fukushima, Kiyoshi

    From the standpoint of lubricative deficit under the alternative refrigerant/lubricants coexistence, the influence of additives on friction and wear characteristics for compressor parts have been investigated by the wear tester reappeared on friction condition similarly to actual compressor. It has been shown that an ester type base oil containing TCP (tricresyl phosphate) as an extreme pressure agents indicates satisfactory lubrication because of its EP effect. However owning to the deterioration of base oil caused by a cresol which is a reactant of TCP, a hydrolysis inhibitor must be necessary. The results indicates that a hydrolysis inhibitor added to POE is able to not only prevent the base oil from deteriorating but also feed the strength into oil films. On the other hands, in such a case that TCP concentration added in an alkylbenzen type base oil is excess or wear track temperature is higher, wear amounts of compressor parts are increased on account of corrosion wear. The reactivity of TCP depends on wear track temperature and its concentration. Consequently, it is possible that EP effect of TCP has been considered in terms of its concentration and temperature to be appropriated.

  1. Influence of Alumina Additions on the Physical and Chemical Properties of Lithium-iron-phosphate Glasses

    NASA Astrophysics Data System (ADS)

    Liu, Huali; Yang, Ruijuan; Wang, Yinghui; Liu, Shiquan

    Alumina improves the properties and depresses the devitrification of soda-lime-silicate glasses. Herein, the influence of alumina on the glass transition temperature, density, chemical durability, crystallization of lithium-iron-phosphate (LIP) glass has been investigated. As alumina was added to replace the iron oxide in a base LIP glass with the molar composition of Li2O:Fe2O3:P2O5=30:20:50, the alumina-containing glasses have increased Tg, densities and chemical stabilities than the base glass. When the amount of alumina is increased from 2 to 6 mol, the Tg value slightly increases, whereas the density decreases. However, the smallest weight loss is shown for the glass containing 3.2 mol of alumina. The variations of the properties with alumina are explained based on the infrared structure analysis results. In addition, it is found the either the base or the alumina-containing glasses have surface crystallization upon heat-treatments. Under the same treatment conditions, the base glass exhibits a thin layer of crystallization with LiFeP2O7 as the main phase. In contrast, alumina-containing glasses show much higher degree of crystallization, which is further increased with the amount of alumina. This trend is opposite to that of silicate glass. Besides the LiFeP2O7 main phase, Fe7(PO4) phase is also identified in the crystallized alumina-containing glasses.

  2. Influence of the addition of antibiotics on survival of herpesvirus of turkeys.

    PubMed

    Buscaglia, Celina

    2013-06-01

    To determine the influence of the antibiotics ceftiofur sodium from two different laboratories (A and B) and gentamycin sulfate on a Marek's disease commercial vaccine herpesvirus of turkey (HVT), samples were assayed by titration in chicken embryo fibroblasts (CEF). Viruses were tested in vitro to establish the average number of plaque-forming units before and after different periods of incubation with the addition of the antibiotic. These tests showed no effect of gentamycin or ceftiofur A or B on HVT titers when treatments were for 1 hr or less. However, ceftiofur B decreased the titer at 2 hr. The in vivo effects of the antibiotics were determined by vaccinating 15 one-day-old chickens with HVT plus gentamycin or ceftiofur A or B. Birds were considered viremic at 1 wk postvaccination when one or more plaques were detected in CEF 5 days after inoculation of peripheral blood lymphocytes. Viremia levels were similar between 1 and 16 wk after vaccination with HVT with ceftiofur A or B. The pH values (7.5) were the same in vaccines with and without antibiotics.

  3. Rate of evolutionary change in cranial morphology of the marsupial genus Monodelphis is constrained by the availability of additive genetic variation.

    PubMed

    Porto, A; Sebastião, H; Pavan, S E; VandeBerg, J L; Marroig, G; Cheverud, J M

    2015-04-01

    We tested the hypothesis that the rate of marsupial cranial evolution is dependent on the distribution of genetic variation in multivariate space. To do so, we carried out a genetic analysis of cranial morphological variation in laboratory strains of Monodelphis domestica and used estimates of genetic covariation to analyse the morphological diversification of the Monodelphis brevicaudata species group. We found that within-species genetic variation is concentrated in only a few axes of the morphospace and that this strong genetic covariation influenced the rate of morphological diversification of the brevicaudata group, with between-species divergence occurring fastest when occurring along the genetic line of least resistance. Accounting for the geometric distribution of genetic variation also increased our ability to detect the selective regimen underlying species diversification, with several instances of selection only being detected when genetic covariances were taken into account. Therefore, this work directly links patterns of genetic covariation among traits to macroevolutionary patterns of morphological divergence. Our findings also suggest that the limited distribution of Monodelphis species in morphospace is the result of a complex interplay between the limited dimensionality of available genetic variation and strong stabilizing selection along two major axes of genetic variation.

  4. Implementation of the Realized Genomic Relationship Matrix to Open-Pollinated White Spruce Family Testing for Disentangling Additive from Nonadditive Genetic Effects

    PubMed Central

    Gamal El-Dien, Omnia; Ratcliffe, Blaise; Klápště, Jaroslav; Porth, Ilga; Chen, Charles; El-Kassaby, Yousry A.

    2016-01-01

    The open-pollinated (OP) family testing combines the simplest known progeny evaluation and quantitative genetics analyses as candidates’ offspring are assumed to represent independent half-sib families. The accuracy of genetic parameter estimates is often questioned as the assumption of “half-sibling” in OP families may often be violated. We compared the pedigree- vs. marker-based genetic models by analysing 22-yr height and 30-yr wood density for 214 white spruce [Picea glauca (Moench) Voss] OP families represented by 1694 individuals growing on one site in Quebec, Canada. Assuming half-sibling, the pedigree-based model was limited to estimating the additive genetic variances which, in turn, were grossly overestimated as they were confounded by very minor dominance and major additive-by-additive epistatic genetic variances. In contrast, the implemented genomic pairwise realized relationship models allowed the disentanglement of additive from all nonadditive factors through genetic variance decomposition. The marker-based models produced more realistic narrow-sense heritability estimates and, for the first time, allowed estimating the dominance and epistatic genetic variances from OP testing. In addition, the genomic models showed better prediction accuracies compared to pedigree models and were able to predict individual breeding values for new individuals from untested families, which was not possible using the pedigree-based model. Clearly, the use of marker-based relationship approach is effective in estimating the quantitative genetic parameters of complex traits even under simple and shallow pedigree structure. PMID:26801647

  5. Implementation of the Realized Genomic Relationship Matrix to Open-Pollinated White Spruce Family Testing for Disentangling Additive from Nonadditive Genetic Effects.

    PubMed

    Gamal El-Dien, Omnia; Ratcliffe, Blaise; Klápště, Jaroslav; Porth, Ilga; Chen, Charles; El-Kassaby, Yousry A

    2016-01-22

    The open-pollinated (OP) family testing combines the simplest known progeny evaluation and quantitative genetics analyses as candidates' offspring are assumed to represent independent half-sib families. The accuracy of genetic parameter estimates is often questioned as the assumption of "half-sibling" in OP families may often be violated. We compared the pedigree- vs. marker-based genetic models by analysing 22-yr height and 30-yr wood density for 214 white spruce [Picea glauca (Moench) Voss] OP families represented by 1694 individuals growing on one site in Quebec, Canada. Assuming half-sibling, the pedigree-based model was limited to estimating the additive genetic variances which, in turn, were grossly overestimated as they were confounded by very minor dominance and major additive-by-additive epistatic genetic variances. In contrast, the implemented genomic pairwise realized relationship models allowed the disentanglement of additive from all nonadditive factors through genetic variance decomposition. The marker-based models produced more realistic narrow-sense heritability estimates and, for the first time, allowed estimating the dominance and epistatic genetic variances from OP testing. In addition, the genomic models showed better prediction accuracies compared to pedigree models and were able to predict individual breeding values for new individuals from untested families, which was not possible using the pedigree-based model. Clearly, the use of marker-based relationship approach is effective in estimating the quantitative genetic parameters of complex traits even under simple and shallow pedigree structure.

  6. Contemporary and historic factors influence differently genetic differentiation and diversity in a tropical palm

    PubMed Central

    da Silva Carvalho, C; Ribeiro, M C; Côrtes, M C; Galetti, M; Collevatti, R G

    2015-01-01

    Population genetics theory predicts loss in genetic variability because of drift and inbreeding in isolated plant populations; however, it has been argued that long-distance pollination and seed dispersal may be able to maintain gene flow, even in highly fragmented landscapes. We tested how historical effective population size, historical migration and contemporary landscape structure, such as forest cover, patch isolation and matrix resistance, affect genetic variability and differentiation of seedlings in a tropical palm (Euterpe edulis) in a human-modified rainforest. We sampled 16 sites within five landscapes in the Brazilian Atlantic forest and assessed genetic variability and differentiation using eight microsatellite loci. Using a model selection approach, none of the covariates explained the variation observed in inbreeding coefficients among populations. The variation in genetic diversity among sites was best explained by historical effective population size. Allelic richness was best explained by historical effective population size and matrix resistance, whereas genetic differentiation was explained by matrix resistance. Coalescence analysis revealed high historical migration between sites within landscapes and constant historical population sizes, showing that the genetic differentiation is most likely due to recent changes caused by habitat loss and fragmentation. Overall, recent landscape changes have a greater influence on among-population genetic variation than historical gene flow process. As immediate restoration actions in landscapes with low forest amount, the development of more permeable matrices to allow the movement of pollinators and seed dispersers may be an effective strategy to maintain microevolutionary processes. PMID:25873150

  7. Genetics blogs as a public health tool: assessing credibility and influence.

    PubMed

    Wagner, L; Paquin, R; Persky, S

    2012-01-01

    The Internet is becoming an important source of information about genetics and holds promise for public health applications. However, the public has concerns about the credibility of online genetics information. We conducted a content analysis of genetics blogs (n = 94). Specifically, we assessed the prevalence of various genetics-related topics and perceived credibility indicators. The relationship between content indicators, credibility indicators, and blog influence, measured as links between blogs, was evaluated. Coverage of issues related to health or self-knowledge (31%) and life science (26%) was most common among genetics blogs. In terms of credibility indicators, most blogs disclosed authors' full names (81%) and biographical information (67%). Many blog authors reported having genetics (67%) or life science expertise (59%). However, only 7% of blogs were affiliated with educational or medical institutions. Overall, blogs that focused on ancestry, that had authors with life science expertise, and that posted more frequently tended to be more influential. Findings suggest that life scientists and those who blog frequently may figure more centrally in shaping the genetics information available to the public via blogs. There is room for institutions that are likely to be perceived as credible sources of genetics information to assume a greater presence through blogs.

  8. Genetics Blogs as a Public Health Tool: Assessing Credibility and Influence

    PubMed Central

    Wagner, L.; Paquin, R.; Persky, S.

    2012-01-01

    The Internet is becoming an important source of information about genetics and holds promise for public health applications. However, the public has concerns about the credibility of online genetics information. We conducted a content analysis of genetics blogs (n = 94). Specifically, we assessed the prevalence of various genetics-related topics and perceived credibility indicators. The relationship between content indicators, credibility indicators, and blog influence, measured as links between blogs, was evaluated. Coverage of issues related to health or self-knowledge (31%) and life science (26%) was most common among genetics blogs. In terms of credibility indicators, most blogs disclosed authors’ full names (81%) and biographical information (67%). Many blog authors reported having genetics (67%) or life science expertise (59%). However, only 7% of blogs were affiliated with educational or medical institutions. Overall, blogs that focused on ancestry, that had authors with life science expertise, and that posted more frequently tended to be more influential. Findings suggest that life scientists and those who blog frequently may figure more centrally in shaping the genetics information available to the public via blogs. There is room for institutions that are likely to be perceived as credible sources of genetics information to assume a greater presence through blogs. PMID:22488465

  9. Under the influence of genetics: how transdisciplinarity leads us to rethink social pathways to illness.

    PubMed

    Pescosolido, Bernice A; Perry, Brea L; Long, J Scott; Martin, Jack K; Nurnberger, John I; Hesselbrock, Victor

    2008-01-01

    This article describes both sociological and genetic theories of illness causation and derives propositions expected under each and under a transdisciplinary theoretical frame. The authors draw propositions from three theories -- fundamental causes, social stress processes, and social safety net theories -- and tailor hypotheses to the case of alcohol dependence. Analyses of a later wave of the Collaborative Study on the Genetics of Alcoholism reveal a complex interplay of the GABRA2 gene with social structural factors to produce cases meeting DSM/ICD diagnoses. Only modest evidence suggests that genetic influence works through social conditions and experiences. Further, women are largely unaffected in their risk for alcohol dependence by allele status at this candidate gene; family support attenuates genetic influence; and childhood deprivation exacerbates genetic predispositions. These findings highlight the essential intradisciplinary tension in the role of proximal and distal influences in social processes and point to the promise of focusing directly on dynamic, networked sequences that produce different pathways to health and illness.

  10. Seasonal flooding regime and ecological traits influence genetic structure of two small rodents

    PubMed Central

    Rocha, Rita Gomes; Ferreira, Eduardo; Fonseca, Carlos; Justino, Juliana; Leite, Yuri Luiz Reis; Costa, Leonora Pires

    2014-01-01

    Although codistributed species are affected by the same abiotic factors, such as rivers and seasonal flooding regimes, ecological traits, such as locomotion habits and habitat preferences, may also influence differences in levels of genetic diversity and differentiation. We examined population genetic structure and diversity of Hylaeamys megacephalus and Oecomys aff. roberti, two cricetid rodent species from the mid-Araguaia River in central Brazil, using mitochondrial DNA sequence data. Specifically, we aim to test whether the Araguaia River acts as a barrier to the gene flow of these two species and to assess how ecological traits, such as locomotion habits and habitat preferences, may influence differences in levels of genetic diversity and differentiation. As both species occur in flooded forests, neither showed genetic differences related to river banks. Oecomys aff. roberti showed stronger population structure that appears to be associated with isolation by distance. This arboreal species maintained stable populations in the Araguaia River, while the terrestrial H. megacephalus was more affected by seasonal floods, resulting in a genetic signature of population expansion. Our initial predictions were largely supported by our results given that locomotion habits and habitat preferences of each species appears to have played a role on the genetic structure of these two sympatric rodent species. PMID:25558355

  11. [Influence of anthropogenous factors on the genetic variety of the sable (Martes zibellina L.)].

    PubMed

    Kashtanov, S N; Svishcheva, G R; Lazebny, O E; Kolobkov, D S; Pishchulina, I G; Meshchersky, S L; Rozhnov, V V

    2015-01-01

    The genetic variety of seven geographic populations of sable has been studied; its distribution area stretches from the Urals to the Far East. It was shown using the panel of eight nuclear microsatellite markers that the sable populations from different geographical regions retain their individual genetic characteristics, despite the influence of anthropogenous factors (overhunting and introduction). There is a significant genetic similarity between the three populations of Central Siberia (Reynolds distances are 0.170-0.200) due to the influence of natural migrations that weaken genetic differentiation, while genetic difference is maximum (0.361) between populations located at the edges of the sable' habitat. The population of the Kamchatka Peninsula is isolated and exists as an independent phylogenetic group. An analysis of the topology of the phylogenetic tree suggests that the populations of Kamchatka and the Sikhote-Alin are closest to the ancestral form. Despite the existence of interspecific hybrids of sable and marten, the level of interspecific genetic differentiation between them is maximal.

  12. Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD

    PubMed Central

    Drummond, M. Bradley; Hawkins, Gregory A.; Yang, Jenny; Chen, Ting-huei; Quibrera, Pedro Miguel; Anderson, Wayne; Barr, R. Graham; Bleecker, Eugene R.; Beaty, Terri; Casaburi, Richard; Castaldi, Peter; Cho, Michael H.; Comellas, Alejandro; Crapo, James D.; Criner, Gerard; Demeo, Dawn; Christenson, Stephanie A.; Couper, David J.; Doerschuk, Claire M.; Freeman, Christine M.; Gouskova, Natalia A.; Han, MeiLan K.; Hanania, Nicola A.; Hansel, Nadia N.; Hersh, Craig P.; Hoffman, Eric A.; Kaner, Robert J.; Kanner, Richard E.; Kleerup, Eric C.; Lutz, Sharon; Martinez, Fernando J.; Meyers, Deborah A.; Peters, Stephen P.; Regan, Elizabeth A.; Rennard, Stephen I.; Scholand, Mary Beth; Silverman, Edwin K.; Woodruff, Prescott G.; O’Neal, Wanda K.; Bowler, Russell P.

    2016-01-01

    Implementing precision medicine for complex diseases such as chronic obstructive lung disease (COPD) will require extensive use of biomarkers and an in-depth understanding of how genetic, epigenetic, and environmental variations contribute to phenotypic diversity and disease progression. A meta-analysis from two large cohorts of current and former smokers with and without COPD [SPIROMICS (N = 750); COPDGene (N = 590)] was used to identify single nucleotide polymorphisms (SNPs) associated with measurement of 88 blood proteins (protein quantitative trait loci; pQTLs). PQTLs consistently replicated between the two cohorts. Features of pQTLs were compared to previously reported expression QTLs (eQTLs). Inference of causal relations of pQTL genotypes, biomarker measurements, and four clinical COPD phenotypes (airflow obstruction, emphysema, exacerbation history, and chronic bronchitis) were explored using conditional independence tests. We identified 527 highly significant (p < 8 X 10−10) pQTLs in 38 (43%) of blood proteins tested. Most pQTL SNPs were novel with low overlap to eQTL SNPs. The pQTL SNPs explained >10% of measured variation in 13 protein biomarkers, with a single SNP (rs7041; p = 10−392) explaining 71%-75% of the measured variation in vitamin D binding protein (gene = GC). Some of these pQTLs [e.g., pQTLs for VDBP, sRAGE (gene = AGER), surfactant protein D (gene = SFTPD), and TNFRSF10C] have been previously associated with COPD phenotypes. Most pQTLs were local (cis), but distant (trans) pQTL SNPs in the ABO blood group locus were the top pQTL SNPs for five proteins. The inclusion of pQTL SNPs improved the clinical predictive value for the established association of sRAGE and emphysema, and the explanation of variance (R2) for emphysema improved from 0.3 to 0.4 when the pQTL SNP was included in the model along with clinical covariates. Causal modeling provided insight into specific pQTL-disease relationships for airflow obstruction and emphysema. In

  13. Evolution of the additive genetic variance–covariance matrix under continuous directional selection on a complex behavioural phenotype

    PubMed Central

    Careau, Vincent; Wolak, Matthew E.; Carter, Patrick A.; Garland, Theodore

    2015-01-01

    Given the pace at which human-induced environmental changes occur, a pressing challenge is to determine the speed with which selection can drive evolutionary change. A key determinant of adaptive response to multivariate phenotypic selection is the additive genetic variance–covariance matrix (G). Yet knowledge of G in a population experiencing new or altered selection is not sufficient to predict selection response because G itself evolves in ways that are poorly understood. We experimentally evaluated changes in G when closely related behavioural traits experience continuous directional selection. We applied the genetic covariance tensor approach to a large dataset (n = 17 328 individuals) from a replicated, 31-generation artificial selection experiment that bred mice for voluntary wheel running on days 5 and 6 of a 6-day test. Selection on this subset of G induced proportional changes across the matrix for all 6 days of running behaviour within the first four generations. The changes in G induced by selection resulted in a fourfold slower-than-predicted rate of response to selection. Thus, selection exacerbated constraints within G and limited future adaptive response, a phenomenon that could have profound consequences for populations facing rapid environmental change. PMID:26582016

  14. Selection for increased desiccation resistance in Drosophila melanogaster: Additive genetic control and correlated responses for other stresses

    SciTech Connect

    Hoffmann, A.A.; Parsons, P.A. )

    1989-08-01

    Previously we found that Drosophila melanogaster lines selected for increased desiccation resistance have lowered metabolic rate and behavioral activity levels, and show correlated responses for resistance to starvation and a toxic ethanol level. These results were consistent with a prediction that increased resistance to many environmental stresses may be genetically correlated because of a reduction in metabolic energy expenditure. Here we present experiments on the genetic basis of the selection response and extend the study of correlated responses to other stresses. The response to selection was not sex-specific and involved X-linked and autosomal genes acting additively. Activity differences contributed little to differences in desiccation resistance between selected and control lines. Selected lines had lower metabolic rates than controls in darkness when activity was inhibited. Adults from selected lines showed increased resistance to a heat shock, {sup 60}Co-gamma-radiation, and acute ethanol and acetic acid stress. The desiccation, ethanol and starvation resistance of isofemale lines set up from the F2s of a cross between one of the selected and one of the control lines were correlated. Selected and control lines did not differ in ether-extractable lipid content or in resistance to acetone, ether or a cold shock.

  15. Evolution of the additive genetic variance-covariance matrix under continuous directional selection on a complex behavioural phenotype.

    PubMed

    Careau, Vincent; Wolak, Matthew E; Carter, Patrick A; Garland, Theodore

    2015-11-22

    Given the pace at which human-induced environmental changes occur, a pressing challenge is to determine the speed with which selection can drive evolutionary change. A key determinant of adaptive response to multivariate phenotypic selection is the additive genetic variance-covariance matrix ( G: ). Yet knowledge of G: in a population experiencing new or altered selection is not sufficient to predict selection response because G: itself evolves in ways that are poorly understood. We experimentally evaluated changes in G: when closely related behavioural traits experience continuous directional selection. We applied the genetic covariance tensor approach to a large dataset (n = 17 328 individuals) from a replicated, 31-generation artificial selection experiment that bred mice for voluntary wheel running on days 5 and 6 of a 6-day test. Selection on this subset of G: induced proportional changes across the matrix for all 6 days of running behaviour within the first four generations. The changes in G: induced by selection resulted in a fourfold slower-than-predicted rate of response to selection. Thus, selection exacerbated constraints within G: and limited future adaptive response, a phenomenon that could have profound consequences for populations facing rapid environmental change.

  16. Genetic diversity in Capsicum baccatum is significantly influenced by its ecogeographical distribution

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The structure of genetic diversity in a plant germplasm collection is significantly influenced by its ecogeographical distribution. Improved understanding of the combined effects of geology, ecology and human intervention is essential for efficient conservation and use of plant germplasm. In the pr...

  17. Genetic and Environmental Influences on the Association between Pubertal Maturation and Internalizing Symptoms

    ERIC Educational Resources Information Center

    Marceau, Kristine; Neiderhiser, Jenae M.; Lichtenstein, Paul; Reiss, David

    2012-01-01

    The literature consistently shows an association between pubertal maturation and internalizing problems in girls. The association for boys is less clear. The present study examines genetic and environmental influences on the association between pubertal maturation and internalizing problems for boys and girls in two primarily Caucasian adolescent…

  18. Cognitive performance and BMI in childhood: Shared genetic influences between reaction time but not response inhibition

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The aim of this work is to understand whether shared genetic influences can explain the associationbetween obesity and cognitive performance, including slower and more variable reaction times(RTs) and worse response inhibition. RT on a four-choice RT task and the go/no-go task, and commission errors...

  19. Genetic and Environmental Influences on Extreme Personality Dispositions in Adolescent Female Twins

    ERIC Educational Resources Information Center

    Pergadia, Michele L.; Madden, Pamela A. F.; Lessov, Christina N.; Todorov, Alexandre A.; Bucholz, Kathleen K.; Martin, Nicholas G.; Heath, Andrew C.

    2006-01-01

    Background: The objective was to determine whether the pattern of environmental and genetic influences on deviant personality scores differs from that observed for the normative range of personality, comparing results in adolescent and adult female twins. Methods: A sample of 2,796 female adolescent twins ascertained from birth records provided…

  20. Common Genetic and Environmental Influences on Major Depressive Disorder and Conduct Disorder

    ERIC Educational Resources Information Center

    Subbarao, Anjali; Rhee, Soo Hyun; Young, Susan E.; Ehringer, Marissa A.; Corley, Robin P.; Hewitt, John K.

    2008-01-01

    The evidence for common genetic and environmental influences on conduct disorder (CD) and major depressive disorder (MDD) in adolescents was examined. A sample of 570 monozygotic twin pairs, 592 dizygotic twin pairs, and 426 non-twin siblings, aged 12-18 years, was recruited from the Colorado Twin Registry. For the past year data, there was a…

  1. GENETIC INFLUENCES ON IN VTIRO PARTICULATE MATTER-INDUCED AIRWAY EPITHELIAL INJURY AND INFLAMMATORY MEDIATOR RELEASE

    EPA Science Inventory

    GENETIC INFLUENCES ON IN VITRO PARTICULATE MATTER-INDUCED AIRWAY EPITHELIAL INJURY AND INFLAMMATORY MEDIATOR RELEASE.
    JA Dye, JH Richards, DA Andrews, UP Kodavanti. US EPA, RTP, NC, USA.

    Particulate matter (PM) air pollution is capable of damaging the airway epitheli...

  2. Alcohol consumption in men is influenced by qualitatively different genetic factors in adolescence and adulthood

    PubMed Central

    Edwards, A. C.; Kendler, K. S.

    2013-01-01

    Background Alcohol consumption is influenced by genetic factors. Previous studies have examined the heritability of alcohol consumption, or related phenotypes, from adolescence into adulthood, frequently finding that total heritability changes over time. However, it remains unclear whether the same genes underlie liability to alcohol consumption across development versus whether novel risk genes become important over time. Method A population-based study of adult male twins (n=1790) born in Virginia, USA, retrospectively reported on their average monthly alcohol consumption from early adolescence through adulthood. We used twin modeling methods to explore genetic and environmental influences on alcohol consumption over time. Results One latent genetic factor accounted for the majority of the heritability in alcohol consumption during mid-to late adolescence, but its influence declined thereafter ; from young adulthood forward, heritability was largely attributable to a second genetic factor. The total heritability of alcohol consumption increased from 0 at ages 12–14 years to 0.40 by ages 18–21 years. Shared environmental factors declined in influence over time. Conclusions The heritability of alcohol consumption over time is dynamic both quantitatively and qualitatively. These results have important implications for gene identification endeavors. Furthermore, these findings could inform efforts to elucidate developmentally dynamic behaviors, such as antisocial behavior. PMID:23282961

  3. Shared and Unique Genetic and Environmental Influences on Aging-Related Changes in Multiple Cognitive Abilities

    ERIC Educational Resources Information Center

    Tucker-Drob, Elliot M.; Reynolds, Chandra A.; Finkel, Deborah; Pedersen, Nancy L.

    2014-01-01

    Aging-related declines occur in many different domains of cognitive function during middle and late adulthood. However, whether a global dimension underlies individual differences in changes in different domains of cognition and whether global genetic influences on cognitive changes exist is less clear. We addressed these issues by applying…

  4. Influence of genetic background on anthocyanin and copigment composition and behavior during thermoalkaline processing of maize

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Visual color is a primary factor for foods purchase; identifying factors that influence in-situ color quality of pigmented maize during processing is important. We used 24 genetically distinct pigmented maize hybrids (red/blue, blue, red, and purple) to investigate the effect of pigment and copigme...

  5. Genetic and Environmental Influences on Girls' and Boys' Gender-Typed and Gender-Neutral Values

    ERIC Educational Resources Information Center

    Knafo, Ariel; Spinath, Frank M.

    2011-01-01

    In this first investigation of genetic and environmental influences on children's values, 271 German twin pairs (50.2% boys) reported their values at ages 7-11 years using the Portrait Values Questionnaire (Schwartz & Rubel, 2005). We distinguished between gender-neutral (conservation vs. openness to change) and gender-typed…

  6. Genetic and environmental influences on applied creativity: A reared-apart twin study.

    PubMed

    Velázquez, Jaime A; Segal, Nancy L; Horwitz, Briana N

    2015-03-01

    Applied creativity involves bringing innovation to real-life activities. The first reared-apart twin study assessing genetic and environmental origins of applied creativity, via Draw-a-House (DAH) and Draw-a-Person (DAP) tasks, is presented. Participants included 69 MZA and 53 DZA twin pairs from the Minnesota Study of Twins Reared Apart. Drawings were evaluated by four artists and four non-artists. Genetic effects were demonstrated for the DAP (.38-.47), but not for the DAH. Creative personality showed genetic effects (.50), and modest, but significant correlations with scores on the two drawings (rs = .17-.26). Both genetic and nonshared environmental influences underlie variance in applied creativity. Individuals concerned with enhancing creativity among students and others may better understand individual differences in performance and training.

  7. Genetic and environmental influences on applied creativity: A reared-apart twin study

    PubMed Central

    Velázquez, Jaime A.; Segal, Nancy L.; Horwitz, Briana N.

    2015-01-01

    Applied creativity involves bringing innovation to real-life activities. The first reared-apart twin study assessing genetic and environmental origins of applied creativity, via Draw-a-House (DAH) and Draw-a-Person (DAP) tasks, is presented. Participants included 69 MZA and 53 DZA twin pairs from the Minnesota Study of Twins Reared Apart. Drawings were evaluated by four artists and four non-artists. Genetic effects were demonstrated for the DAP (.38–.47), but not for the DAH. Creative personality showed genetic effects (.50), and modest, but significant correlations with scores on the two drawings (rs = .17–.26). Both genetic and nonshared environmental influences underlie variance in applied creativity. Individuals concerned with enhancing creativity among students and others may better understand individual differences in performance and training. PMID:26366030

  8. Sex differences in genetic and environmental influences on educational attainment and income.

    PubMed

    Orstavik, Ragnhild E; Czajkowski, Nikolai; Røysamb, Espen; Knudsen, Gun Peggy; Tambs, Kristian; Reichborn-Kjennerud, Ted

    2014-12-01

    In many Western countries, women now reach educational levels comparable to men, although their income remains considerably lower. For the past decades, it has become increasingly clear that these measures of socio-economic status are influenced by genetic as well as environmental factors. Less is known about the relationship between education and income, and sex differences. The aim of this study was to explore genetic and environmental factors influencing education and income in a large cohort of young Norwegian twins, with special emphasis on gender differences. National register data on educational level and income were obtained for 7,710 twins (aged 29-41 years). Bivariate Cholesky models were applied to estimate qualitative and quantitative gender differences in genetic and environmental influences, the relative contribution of genetic and environmental factors to the correlation between education and income, and genetic correlations within and between sexes and phenotypes. The phenotypic correlation between educational level and income was 0.34 (0.32-0.39) for men and 0.45 (0.43-0.48) for women. An ACE model with both qualitative and quantitative sex differences fitted the data best. The genetic correlation between men and women (rg) was 0.66 (0.22-1.00) for educational attainment and 0.38 (0.01-0.75) for income, and between the two phenotypes 0.31 (0.08-0.52) for men and 0.72 (0.64-0.85) for women. Our results imply that, in relatively egalitarian societies with state-supported access to higher education and political awareness of gender equality, genetic factors may play an important role in explaining sex differences in the relationship between education and income.

  9. Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors.

    PubMed

    David, Dezsö; Ribeiro, Sofia; Ferrão, Lénia; Gago, Teresa; Crespo, Francisco

    2004-06-01

    Antithrombin (AT), the most important coagulation serine proteases inhibitor, plays an important role in maintaining the hemostatic balance. Inherited AT deficiency, mainly characterized by predisposition to recurrent venous thromboembolism, is transmitted in an autosomal dominant manner. In this study, we analyzed the underlying genetic alterations in 12 unrelated Portuguese thrombophilic families with AT deficiency. At the same time, the modulating effect of the FV Leiden mutation, PT 20210A, PAI-1 4G, and MTHFR 677T allelic variants, on the thrombotic risk of AT deficient patients was also evaluated. Three novel frameshift alterations, a 4-bp deletion in exon 4 and two 1-bp insertions in exon 6, were identified in six unrelated type I AT deficient families. A novel missense mutation in exon 3a, which changes the highly conserved F147 residue, and a novel splice site mutation in the invariant acceptor AG dinucleotide of intron 2 were also identified in unrelated type I AT deficient families. In addition to these, two previously reported missense mutations changing the AT reactive site bond (R393-S394) and leading to type II-RS deficiency, and a previously reported cryptic splice site mutation (IVS4-14G-->A), were also identified. In these families, increased thrombotic risk associated with co-inheritance of the FV Leiden mutation and of the PAI-1 4G variant was also observed. In conclusion, we present the first data regarding the underlying genetic alterations in Portuguese thrombophilic families with AT deficiency, and confirm that the FV Leiden mutation and probably the PAI-1 4G variant represent additional thrombotic risk factors in these families.

  10. Factors influencing reproduction and genetic toxic effects on male gonads

    PubMed Central

    Lee, I. P.; Dixon, R. L.

    1978-01-01

    The objective of toxicological study of a target organ, such as the testis, is to elucidate the qualitative and quantitative toxic effects of a chemical on that organ. The ultimate objective is to assess the toxic effects of a chemical in laboratory animals and extrapolate the pertinent experimental data to man. To accomplish these objectives, one must consider the main factors which may influence and modulate the toxic effects of chemicals in the organ. In the male gonads, such modifying factors are the pharmacokinetic parameters governing the absorption, distribution, activation and detoxification of indirect carcinogens, covalent bindings to macromolecules, and DNA damage as well as DNA repair of damaged germ cells. All of these factors have been presently studied in our laboratory and are discussed in this paper with the exception of covalent bindings to macromolecules. The pharmacokinetic studies demonstrated that the functional blood–testis barrier (BTB) closely resembles the blood-brain barrier in transport characteristics: the permeability of nonelectrolytes and the acidic drugs with pKa values depend upon their molecular size and their partition coefficients, respectively. Thus, the functional BTB, restricts the permeability of many foreign compounds to male germ cells. Studies of mixed function oxidases and cytochrome P-450 system in male gonads demonstrated that the presence of AHH, EH, and GSH-ST implicate activation and detoxification of polycyclic hydrocarbons. Thus, active electrophiles may exert significant toxic effects locally within both interstitial and germ cell compartments. The presence of an efficient DNA repair system in premeiotic spermatogenic cells (and not in spermiogenic cells) can further modify both toxic and mutagenic events in the subsequent differentiation of germ cells to mature spermatozoa. PMID:17539139

  11. Comparative multilocus phylogeography of two Palaearctic spruce bark beetles: influence of contrasting ecological strategies on genetic variation.

    PubMed

    Mayer, François; Piel, Frédéric B; Cassel-Lundhagen, Anna; Kirichenko, Natalia; Grumiau, Laurent; Økland, Bjørn; Bertheau, Coralie; Grégoire, Jean-Claude; Mardulyn, Patrick

    2015-03-01

    While phylogeographic patterns of organisms are often interpreted through past environmental disturbances, mediated by climate changes, and geographic barriers, they may also be strongly influenced by species-specific traits. To investigate the impact of such traits, we focused on two Eurasian spruce bark beetles that share a similar geographic distribution, but differ in their ecology and reproduction. Ips typographus is an aggressive tree-killing species characterized by strong dispersal, whereas Dendroctonus micans is a discrete inbreeding species (sib mating is the rule), parasite of living trees and a poor disperser. We compared genetic variation between the two species over both beetles' entire range in Eurasia with five independent gene fragments, to evaluate whether their intrinsic differences could have an influence over their phylogeographic patterns. We highlighted widely divergent patterns of genetic variation for the two species and argue that the difference is indeed largely compatible with their contrasting dispersal strategies and modes of reproduction. In addition, genetic structure in I. typographus divides European populations in a northern and a southern group, as was previously observed for its host plant, and suggests past allopatric divergence. A long divergence time was estimated between East Asian and other populations of both species, indicating their long-standing presence in Eurasia, prior to the last glacial maximum. Finally, the strong population structure observed in D. micans for the mitochondrial locus provides insights into the recent colonization history of this species, from its native European range to regions where it was recently introduced.

  12. Common genetic variants in NEFL influence gene expression and neuroblastoma risk.

    PubMed

    Capasso, Mario; Diskin, Sharon; Cimmino, Flora; Acierno, Giovanni; Totaro, Francesca; Petrosino, Giuseppe; Pezone, Lucia; Diamond, Maura; McDaniel, Lee; Hakonarson, Hakon; Iolascon, Achille; Devoto, Marcella; Maris, John M

    2014-12-01

    The genetic etiology of sporadic neuroblastoma is still largely obscure. In a genome-wide association study, we identified single-nucleotide polymorphisms (SNP) associated with neuroblastoma at the CASC15, BARD1, LMO1, DUSP12, HSD17B12, HACE1, and LIN28B gene loci, but these explain only a small fraction of neuroblastoma heritability. Other neuroblastoma susceptibility genes are likely hidden among signals discarded by the multiple testing corrections. In this study, we evaluated eight additional genes selected as candidates for further study based on proven involvement in neuroblastoma differentiation. SNPs at these candidate genes were tested for association with disease susceptibility in 2,101 cases and 4,202 controls, with the associations found replicated in an independent cohort of 459 cases and 809 controls. Replicated associations were further studied for cis-effect using gene expression, transient overexpression, silencing, and cellular differentiation assays. The neurofilament gene NEFL harbored three SNPs associated with neuroblastoma (rs11994014: Pcombined = 0.0050; OR, 0.88; rs2979704: Pcombined = 0.0072; OR, 0.87; rs1059111: Pcombined = 0.0049; OR, 0.86). The protective allele of rs1059111 correlated with increased NEFL expression. Biologic investigations showed that ectopic overexpression of NEFL inhibited cell growth specifically in neuroblastoma cells carrying the protective allele. NEFL overexpression also enhanced differentiation and impaired the proliferation and anchorage-independent growth of cells with protective allele and basal NEFL expression, while impairing invasiveness and proliferation of cells homozygous for the risk genotype. Clinically, high levels of NEFL expression in primary neuroblastoma specimens were associated with better overall survival (P = 0.03; HR, 0.68). Our results show that common variants of NEFL influence neuroblastoma susceptibility and they establish that NEFL expression influences disease initiation and

  13. Disentangling the effects of genetic, prenatal and parenting influences on children's cortisol variability.

    PubMed

    Marceau, Kristine; Ram, Nilam; Neiderhiser, Jenae M; Laurent, Heidemarie K; Shaw, Daniel S; Fisher, Phil; Natsuaki, Misaki N; Leve, Leslie D

    2013-11-01

    Developmental plasticity models hypothesize the role of genetic and prenatal environmental influences on the development of the hypothalamic-pituitary-adrenal (HPA) axis and highlight that genes and the prenatal environment may moderate early postnatal environmental influences on HPA functioning. This article examines the interplay of genetic, prenatal and parenting influences across the first 4.5 years of life on a novel index of children's cortisol variability. Repeated measures data were obtained from 134 adoption-linked families, adopted children and both their adoptive parents and birth mothers, who participated in a longitudinal, prospective US domestic adoption study. Genetic and prenatal influences moderated associations between inconsistency in overreactive parenting from child age 9 months to 4.5 years and children's cortisol variability at 4.5 years differently for mothers and fathers. Among children whose birth mothers had high morning cortisol, adoptive fathers' inconsistent overreactive parenting predicted higher cortisol variability, whereas among children with low birth mother morning cortisol adoptive fathers' inconsistent overreactive parenting predicted lower cortisol variability. Among children who experienced high levels of prenatal risk, adoptive mothers' inconsistent overreactive parenting predicted lower cortisol variability and adoptive fathers' inconsistent overreactive parenting predicted higher cortisol variability, whereas among children who experienced low levels of prenatal risk there were no associations between inconsistent overreactive parenting and children's cortisol variability. Findings supported developmental plasticity models and uncovered novel developmental, gene × environment and prenatal × environment influences on children's cortisol functioning.

  14. Genetic influences on the overlap between low IQ and antisocial behavior in young children.

    PubMed

    Koenen, Karestan C; Caspi, Avshalom; Moffitt, Terrie E; Rijsdijk, Fruhling; Taylor, Alan

    2006-11-01

    The well-documented relation between the phenotypes of low IQ and childhood antisocial behavior could be explained by either common genetic influences or environmental influences. These competing explanations were examined through use of the Environmental Risk Longitudinal Twin Study 1994-1995 cohort (Moffitt & the E-Risk Study Team, 2002) of 1,116 twin pairs and their families. Children's IQ was assessed via individual testing at age 5 years. Mothers and teachers reported on children's antisocial behavior at ages 5 and 7 years. Low IQ was related to antisocial behavior at age 5 years and predicted relatively higher antisocial behavior scores at age 7 years when antisocial behavior at age 5 years was controlled. This association was significantly stronger among boys than among girls. Genetic influences common to both phenotypes explained 100% of the low IQ-antisocial behavior relation in boys. Findings suggest that specific candidate genes and neurobiological processes should be tested in relation to both phenotypes.

  15. Different Slopes for Different Folks: Genetic Influences on Growth in Delinquent Peer Association and Delinquency During Adolescence.

    PubMed

    Connolly, Eric J; Schwartz, Joseph A; Nedelec, Joseph L; Beaver, Kevin M; Barnes, J C

    2015-07-01

    An extensive line of research has identified delinquent peer association as a salient environmental risk factor for delinquency, especially during adolescence. While previous research has found moderate-to-strong associations between exposure to delinquent peers and a variety of delinquent behaviors, comparatively less scholarship has focused on the genetic architecture of this association over the course of adolescence. Using a subsample of kinship pairs (N = 2379; 52% female) from the National Longitudinal Survey of Youth-Child and Young Adult Supplement (CNLSY), the present study examined the extent to which correlated individual differences in starting levels and developmental growth in delinquent peer pressure and self-reported delinquency were explained by additive genetic and environmental influences. Results from a series of biometric growth models revealed that 37% of the variance in correlated growth between delinquent peer pressure and self-reported delinquency was explained by additive genetic effects, while nonshared environmental effects accounted for the remaining 63% of the variance. Implications of these findings for interpreting the nexus between peer effects and adolescent delinquency are discussed.

  16. Life-history and habitat features influence the within-river genetic structure of Atlantic salmon.

    PubMed

    Vähä, Juha-Pekka; Erkinaro, Jaakko; Niemelä, Eero; Primmer, Craig R

    2007-07-01

    Defining populations and identifying ecological and life-history characteristics affecting genetic structure is important for understanding species biology and hence, for managing threatened or endangered species or populations. In this study, populations of the world's largest indigenous Atlantic salmon (Salmo salar) stock were first inferred using model-based clustering methods, following which life-history and habitat variables best predicting the genetic diversity of populations were identified. This study revealed that natal homing of Atlantic salmon within the Teno River system is accurate at least to the tributary level. Generally, defining populations by main tributaries was observed to be a reasonable approach in this large river system, whereas in the mainstem of the river, the number of inferred populations was fewer than the number of distinct sampling sites. Mainstem and headwater populations were genetically more diverse and less diverged, while each tributary fostered a distinct population with high genetic differentiation and lower genetic diversity. Population structure and variation in genetic diversity among populations were poorly explained by geographical distance. In contrast, age-structure, as estimated by the proportion of multisea-winter spawners, was the most predictive variable in explaining the variation in the genetic diversity of the populations. This observation, being in agreement with theoretical predictions, emphasizes the essence of large multisea-winter females in maintaining the genetic diversity of populations. In addition, the unique genetic diversity of populations, as estimated by private allele richness, was affected by the ease of accessibility of a site, with more difficult to access sites having lower unique genetic diversity. Our results show that despite this species' high capacity for migration, tributaries foster relatively closed populations with little gene flow which will be important to consider when developing

  17. Genetics

    MedlinePlus

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  18. Genetic and Environmental Influences on Frontal EEG Asymmetry and Alpha Power in 9–10 Year Old Twins

    PubMed Central

    Gao, Yu; Tuvblad, Catherine; Raine, Adrian; Lozano, Dora I.; Baker, Laura A.

    2008-01-01

    Modest genetic influences on frontal EEG asymmetry have been found in adults, but little is known about its genetic origins in children. Resting frontal asymmetry and alpha power were examined in 951 9–10-year-old twins. Results showed that in both males and females: (1) a modest but significant amount of variance in frontal asymmetry was accounted for by genetic factors (11–27%) with the remainder accounted for by non-shared environmental influences, and (2) alpha power were highly heritable, with 70–85% of the variance accounted for by genetic factors. Results suggest that the genetic architecture of frontal asymmetry and alpha power in late childhood are similar to that in adulthood and that the high non-shared environmental influences on frontal asymmetry may reflect environmentally-influenced individual differences in the maturation of frontal cortex as well as state-dependent influences on specific measurements. PMID:19386046

  19. Genetic and Environmental Influences on Motor Function: A Magnetoencephalographic Study of Twins

    PubMed Central

    Araki, Toshihiko; Hirata, Masayuki; Sugata, Hisato; Yanagisawa, Takufumi; Onishi, Mai; Watanabe, Yoshiyuki; Omura, Kayoko; Honda, Chika; Hayakawa, Kazuo; Yorifuji, Shiro

    2014-01-01

    To investigate the effect of genetic and environmental influences on cerebral motor function, we determined similarities and differences of movement-related cortical fields (MRCFs) in middle-aged and elderly monozygotic (MZ) twins. MRCFs were measured using a 160-channel magnetoencephalogram system when MZ twins were instructed to repeat lifting of the right index finger. We compared latency, amplitude, dipole location, and dipole intensity of movement-evoked field 1 (MEF1) between 16 MZ twins and 16 pairs of genetically unrelated pairs. Differences in latency and dipole location between MZ twins were significantly less than those between unrelated age-matched pairs. However, amplitude and dipole intensity were not significantly different. These results suggest that the latency and dipole location of MEF1 are determined early in life by genetic and early common environmental factors, whereas amplitude and dipole intensity are influenced by long-term environmental factors. Improved understanding of genetic and environmental factors that influence cerebral motor function may contribute to evaluation and improvement for individual motor function. PMID:24994981

  20. Genetic determinants in head and neck squamous cell carcinoma and their influence on global personalized medicine

    PubMed Central

    Michmerhuizen, Nicole L.; Birkeland, Andrew C.; Bradford, Carol R.; Brenner, J. Chad

    2016-01-01

    While sequencing studies have provided an improved understanding of the genetic landscape of head and neck squamous cell carcinomas (HNSCC), there remains a significant lack of genetic data derived from non-Caucasian cohorts. Additionally, there is wide variation in HNSCC incidence and mortality worldwide both between and within various geographic regions. These epidemiologic differences are in part accounted for by varying exposure to environmental risk factors such as tobacco, alcohol, high risk human papilloma viruses and betel quid. However, inherent genetic factors may also play an important role in this variability. As limited sequencing data is available for many populations, the involvement of unique genetic factors in HNSCC pathogenesis from epidemiologically diverse groups is unknown. Here, we review current knowledge about the epidemiologic, environmental, and genetic variation in HNSCC cohorts globally and discuss future studies necessary to further our understanding of these differences. Long-term, a more complete understanding of the genetic drivers found in diverse HNSCC cohorts may help the development of personalized medicine protocols for patients with rare or complex genetic events. PMID:27551333

  1. Parent and peer influences on emerging adult substance use disorder: A genetically informed study

    PubMed Central

    Bountress, Kaitlin; Chassin, Laurie; Lemery-Chalfant, Kathryn

    2017-01-01

    The present study utilizes longitudinal data from a high-risk community sample to examine the unique effects of genetic risk, parental knowledge about the daily activities of adolescents, and peer substance use on emerging adult substance use disorders (SUDs). These effects are examined over and above a polygenic risk score. In addition, this polygenic risk score is used to examine gene–environment correlation and interaction. The results show that during older adolescence, higher adolescent genetic risk for SUDs predicts less parental knowledge, but this relation is nonsignificant in younger adolescence. Parental knowledge (using mother report) mediates the effects of parental alcohol use disorder (AUD) and adolescent genetic risk on risk for SUD, and peer substance use mediates the effect of parent AUD on offspring SUD. Finally, there are significant gene–environment interactions such that, for those at the highest levels of genetic risk, less parental knowledge and more peer substance use confers greater risk for SUDs. However, for those at medium and low genetic risk, these effects are attenuated. These findings suggest that the evocative effects of adolescent genetic risk on parenting increase with age across adolescence. They also suggest that some of the most important environmental risk factors for SUDs exert effects that vary across level of genetic propensity. PMID:26753847

  2. Shared genetic influences on ADHD symptoms and very low-frequency EEG activity: a twin study

    PubMed Central

    Tye, Charlotte; Rijsdijk, Frühling; Greven, Corina U.; Kuntsi, Jonna; Asherson, Philip; McLoughlin, Gráinne

    2013-01-01

    Background ADHD is a common and highly heritable neurodevelopmental disorder with a complex aetiology. The identification of candidate intermediate phenotypes that are both heritable and genetically linked to ADHD may facilitate the detection of susceptibility genes and elucidate aetiological pathways. Very low-frequency (VLF; <0.5Hz) electroencephalographic (EEG) activity represents a promising indicator of risk for ADHD, but it is currently unclear whether it is heritable or genetically linked to the disorder. Methods Direct-current (DC)-EEG was recorded during a cognitive activation condition in 30 monozygotic and dizygotic adolescent twin pairs concordant or discordant for high ADHD symptom scores, and 37 monozygotic and dizygotic matched-control twin pairs with low ADHD symptom scores. Structural equation modelling was used to quantify the genetic and environmental contributions to the phenotypic covariance between ADHD and VLF activity. Results ADHD was significantly associated with reduced VLF power during cognitive activation, which suggests reduced synchronisation of widespread neuronal activity. VLF power demonstrated modest heritability (0.31) and the genetic correlation (−0.80) indicated a substantial degree of overlap in genetic influences on ADHD and VLF activity. Conclusions Altered VLF activity is a potential candidate intermediate phenotype of ADHD, which warrants further investigation of underlying neurobiological and genetic mechanisms. PMID:22118296

  3. Additive sex-specific influence of common non-synonymous DISC1 variants on amygdala, basal ganglia, and white cortical surface area in healthy young adults.

    PubMed

    Mühle, Christiane; Kreczi, Jakob; Rhein, Cosima; Richter-Schmidinger, Tanja; Alexopoulos, Panagiotis; Doerfler, Arnd; Lenz, Bernd; Kornhuber, Johannes

    2017-03-01

    The disrupted-in-schizophrenia-1 (DISC1) gene is known for its role in the development of mental disorders. It is also involved in neurodevelopment, cognition, and memory. To investigate the association between DISC1 variants and brain morphology, we analyzed the influence of the three common non-synonymous polymorphisms in DISC1 on specific brain structures in healthy young adults. The volumes of brain regions were determined in 145 subjects by magnetic resonance imaging and automated analysis using FreeSurfer. Genotyping was performed by high resolution melting of amplified products. In an additive genetic model, rs6675281 (Leu607Phe), rs3738401 (Arg264Gln), and rs821616 (Ser704Cys) significantly explained the volume variance of the amygdala (p = 0.007) and the pallidum (p = 0.004). A higher cumulative portion of minor alleles was associated with larger volumes of the amygdala (p = 0.005), the pallidum (p = 0.001), the caudate (p = 0.024), and the putamen (p = 0.007). Sex-stratified analysis revealed a strong genetic effect of rs6675281 on putamen and pallidum in females but not in males and an opposite influence of rs3738401 on the white cortical surface in females compared to males. The strongest single association was found for rs821616 and the amygdala volume in male subjects (p < 0.001). No effect was detected for the nucleus accumbens. We report-to our knowledge-for the first time a significant and sex-specific influence of common DISC1 variants on volumes of the basal ganglia, the amygdala and on the cortical surface area. Our results demonstrate that the additive model of all three polymorphisms outperforms their single analysis.

  4. Autosomal and X-Linked Additive Genetic Variation for Lifespan and Aging: Comparisons Within and Between the Sexes in Drosophila melanogaster.

    PubMed

    Griffin, Robert M; Schielzeth, Holger; Friberg, Urban

    2016-12-07

    Theory makes several predictions concerning differences in genetic variation between the X chromosome and the autosomes due to male X hemizygosity. The X chromosome should: (i) typically show relatively less standing genetic variation than the autosomes, (ii) exhibit more variation in males compared to females because of dosage compensation, and (iii) potentially be enriched with sex-specific genetic variation. Here, we address each of these predictions for lifespan and aging in Drosophila melanogaster To achieve unbiased estimates of X and autosomal additive genetic variance, we use 80 chromosome substitution lines; 40 for the X chromosome and 40 combining the two major autosomes, which we assay for sex-specific and cross-sex genetic (co)variation. We find significant X and autosomal additive genetic variance for both traits in both sexes (with reservation for X-linked variation of aging in females), but no conclusive evidence for depletion of X-linked variation (measured through females). Males display more X-linked variation for lifespan than females, but it is unclear if this is due to dosage compensation since also autosomal variation is larger in males. Finally, our results suggest that the X chromosome is enriched for sex-specific genetic variation in lifespan but results were less conclusive for aging overall. Collectively, these results suggest that the X chromosome has reduced capacity to respond to sexually concordant selection on lifespan from standing genetic variation, while its ability to respond to sexually antagonistic selection may be augmented.

  5. Autosomal and X-Linked Additive Genetic Variation for Lifespan and Aging: Comparisons Within and Between the Sexes in Drosophila melanogaster

    PubMed Central

    Griffin, Robert M.; Schielzeth, Holger; Friberg, Urban

    2016-01-01

    Theory makes several predictions concerning differences in genetic variation between the X chromosome and the autosomes due to male X hemizygosity. The X chromosome should: (i) typically show relatively less standing genetic variation than the autosomes, (ii) exhibit more variation in males compared to females because of dosage compensation, and (iii) potentially be enriched with sex-specific genetic variation. Here, we address each of these predictions for lifespan and aging in Drosophila melanogaster. To achieve unbiased estimates of X and autosomal additive genetic variance, we use 80 chromosome substitution lines; 40 for the X chromosome and 40 combining the two major autosomes, which we assay for sex-specific and cross-sex genetic (co)variation. We find significant X and autosomal additive genetic variance for both traits in both sexes (with reservation for X-linked variation of aging in females), but no conclusive evidence for depletion of X-linked variation (measured through females). Males display more X-linked variation for lifespan than females, but it is unclear if this is due to dosage compensation since also autosomal variation is larger in males. Finally, our results suggest that the X chromosome is enriched for sex-specific genetic variation in lifespan but results were less conclusive for aging overall. Collectively, these results suggest that the X chromosome has reduced capacity to respond to sexually concordant selection on lifespan from standing genetic variation, while its ability to respond to sexually antagonistic selection may be augmented. PMID:27678519

  6. Overlapping genetic and child-specific nonshared environmental influences on listening comprehension, reading motivation, and reading comprehension.

    PubMed

    Schenker, Victoria J; Petrill, Stephen A

    2015-01-01

    This study investigated the genetic and environmental influences on observed associations between listening comprehension, reading motivation, and reading comprehension. Univariate and multivariate quantitative genetic models were conducted in a sample of 284 pairs of twins at a mean age of 9.81 years. Genetic and nonshared environmental factors accounted for statistically significant variance in listening and reading comprehension, and nonshared environmental factors accounted for variance in reading motivation. Furthermore, listening comprehension demonstrated unique genetic and nonshared environmental influences but also had overlapping genetic influences with reading comprehension. Reading motivation and reading comprehension each had unique and overlapping nonshared environmental contributions. Therefore, listening comprehension appears to be related to reading primarily due to genetic factors whereas motivation appears to affect reading via child-specific, nonshared environmental effects.

  7. Overlapping Genetic and Child-Specific Nonshared Environmental Influences on Listening Comprehension, Reading Motivation, and Reading Comprehension

    PubMed Central

    Schenker, Victoria J.; Petrill, Stephen A.

    2015-01-01

    This study investigated the genetic and environmental influences on observed associations between listening comprehension, reading motivation, and reading comprehension. Univariate and multivariate quantitative genetic models were conducted in a sample of 284 pairs of twins at a mean age of 9.81 years. Genetic and nonshared environmental factors accounted for statistically significant variance in listening and reading comprehension, and nonshared environmental factors accounted for variance in reading motivation. Furthermore, listening comprehension demonstrated unique genetic and nonshared environmental influences but also had overlapping genetic influences with reading comprehension. Reading motivation and reading comprehension each had unique and overlapping nonshared environmental contributions. Therefore, listening comprehension appears to be related to reading primarily due to genetic factors whereas motivation appears to affect reading via child-specific, nonshared environmental effects. PMID:26321677

  8. Influence of polymer additives on turbulence in von Karman swirling flow between two disks. II

    NASA Astrophysics Data System (ADS)

    Burnishev, Yuri; Steinberg, Victor

    2016-03-01

    We present the experimental studies of the influence of polymer additives on the statistical and scaling properties of the fully developed turbulent regime in a von Karman swirling flow driven either by the smooth or bladed disks using only the global measurements of torque Γ and pressure p fluctuations in water- and water-sugar-based solutions of different viscosities, or elasticity El, and different polymer concentrations ϕ as a function of Re in the same apparatus. There are three highlights achieved and reported in the paper: (i) An observation of turbulent drag reduction (TDR) at both the inertial and viscous flow forcing, in a contradiction to a currently accepted opinion that only the viscous forcing leads to TDR, and the unexpected drastic difference in the transition to the fully developed turbulent and TDR regimes in von Karman swirling flow of water-based polymer solutions depending on the way of the forcing; (ii) a continuous transition to TDR in both the normalized torque drop and the rms pressure fluctuations drop and universality in scaling behavior of Cf in an agreement with theoretical predictions; and (iii) the dramatic differences in the appearance of the frequency power spectra of Γ and in particular p due to the different ways of the forcing are also observed. We discuss and summarize further the results in accordance with these three main achievements. The main message of these studies is that both the inertial forcing and viscous forcing of von Karman swirling flow between two counter-rotating disks lead to TDR in the sharp contrast to the currently accepted opinion [O. Cadot et al., "Turbulent drag reduction in a closed flow system: Boundary layer versus bulk effects," Phys. Fluids 10, 426 (1998); D. Bonn et al., "From scale scales to large scales in three-dimensional turbulence: The effect of diluted polymers," Phys. Rev. E 47, R28 (1993); and D. Bonn et al., "Turbulent drag reduction by polymers," J. Phys.: Condens. Matter 17, S1195

  9. Genetic and environmental influences on optimism and its relationship to mental and self-rated health: a study of aging twins.

    PubMed

    Mosing, Miriam A; Zietsch, Brendan P; Shekar, Sri N; Wright, Margaret J; Martin, Nicholas G

    2009-11-01

    Optimism has been shown to be important in maintaining wellbeing into old age, but little is known about the sources of variation in optimism and its links to mental and somatic health. Optimism, mental, and self-rated health were measured in 3,053 twin individuals (501 MZF, 153 MZM, 274 DZF, 77 DZM, and 242 DZ opposite-sex twin pairs and 561 single twins) over 50 years using the life orientation test, the General Health Questionnaire and a single-item question for self-rated health. Additive genetic factors explained 36, 34, and 46% of the variation in optimism, mental, and self-rated health, respectively, with the remainder being due to non-shared environmental influences. Genetic influences accounted for most of the covariance between the variables (14-20% of the genetic variance) indicating that in older adults genes predisposing to high optimism also predispose to good mental health and self-rated health.

  10. Pubertal Onset in Girls is Strongly Influenced by Genetic Variation Affecting FSH Action

    PubMed Central

    Hagen, Casper P.; Sørensen, Kaspar; Aksglaede, Lise; Mouritsen, Annette; Mieritz, Mikkel G.; Tinggaard, Jeanette; Wohlfart-Veje, Christine; Petersen, Jørgen Holm; Main, Katharina M.; Meyts, Ewa Rajpert-De; Almstrup, Kristian; Juul, Anders

    2014-01-01

    Age at pubertal onset varies substantially in healthy girls. Although genetic factors are responsible for more than half of the phenotypic variation, only a small part has been attributed to specific genetic polymorphisms identified so far. Follicle-stimulating hormone (FSH) stimulates ovarian follicle maturation and estradiol synthesis which is responsible for breast development. We assessed the effect of three polymorphisms influencing FSH action on age at breast deveopment in a population-based cohort of 964 healthy girls. Girls homozygous for FSHR -29AA (reduced FSH receptor expression) entered puberty 7.4 (2.5–12.4) months later than carriers of the common variants FSHR -29GG+GA, p = 0.003. To our knowledge, this is the strongest genetic effect on age at pubertal onset in girls published to date. PMID:25231187

  11. Genetic and environmental influence on DNA strand break repair: a twin study.

    PubMed

    Garm, Christian; Moreno-Villanueva, Maria; Bürkle, Alexander; Larsen, Lisbeth Aagaard; Bohr, Vilhelm A; Christensen, Kaare; Stevnsner, Tinna

    2013-07-01

    Accumulation of DNA damage deriving from exogenous and endogenous sources has significant consequences for cellular survival, and is implicated in aging, cancer, and neurological diseases. Different DNA repair pathways have evolved in order to maintain genomic stability. Genetic and environmental factors are likely to influence DNA repair capacity. In order to gain more insight into the genetic and environmental contribution to the molecular basis of DNA repair, we have performed a human twin study, where we focused on the consequences of some of the most abundant types of DNA damage (single-strand breaks), and some of the most hazardous lesions (DNA double-strand breaks). DNA damage signaling response (Gamma-H2AX signaling), relative amount of endogenous damage, and DNA-strand break repair capacities were studied in peripheral blood mononuclear cells from 198 twins (94 monozygotic and 104 dizygotic). We did not detect genetic effects on the DNA-strand break variables in our study.

  12. Genetic influences can protect against unresponsive parenting in the prediction of child social competence.

    PubMed

    Van Ryzin, Mark J; Leve, Leslie D; Neiderhiser, Jenae M; Shaw, Daniel S; Natsuaki, Misaki N; Reiss, David

    2015-01-01

    Although social competence in children has been linked to the quality of parenting, prior research has typically not accounted for genetic similarities between parents and children, or for interactions between environmental (i.e., parental) and genetic influences. In this article, the possibility of a Gene x Environment (G × E) interaction in the prediction of social competence in school-age children is evaluated. Using a longitudinal, multimethod data set from a sample of children adopted at birth (N = 361), a significant interaction was found between birth parent sociability and sensitive, responsive adoptive parenting when predicting child social competence at school entry (age 6), even when controlling for potential confounds. An analysis of the interaction revealed that genetic strengths can buffer the effects of unresponsive parenting.

  13. Beyond genetics. Influence of dietary factors and gut microbiota on type 1 diabetes.

    PubMed

    Nielsen, Dennis S; Krych, Łukasz; Buschard, Karsten; Hansen, Camilla H F; Hansen, Axel K

    2014-11-17

    Type 1 diabetes (T1D) is an autoimmune disease ultimately leading to destruction of insulin secreting β-cells in the pancreas. Genetic susceptibility plays an important role in T1D etiology, but even mono-zygotic twins only have a concordance rate of around 50%, underlining that other factors than purely genetic are involved in disease development. Here we review the influence of dietary and environmental factors on T1D development in humans as well as animal models. Even though data are still inconclusive, there are strong indications that gut microbiota dysbiosis plays an important role in T1D development and evidence from animal models suggests that gut microbiota manipulation might prove valuable in future prevention of T1D in genetically susceptible individuals.

  14. Influences of Problem Format and SES on Preschoolers' Understanding of Approximate Addition

    ERIC Educational Resources Information Center

    McNeil, Nicole M.; Fuhs, Mary Wagner; Keultjes, M. Claire; Gibson, Matthew H.

    2011-01-01

    Recent studies suggest that 5-year-olds can add and compare large numerical quantities through approximate representations of number. However, the nature of this understanding and its susceptibility to environmental influences remain unclear. We examined whether children's early competence depends on the canonical problem format (i.e., arithmetic…

  15. Influence of carbohydrate addition on nitrogen transformations and greenhouse gas emissions of intensive aquaculture system.

    PubMed

    Hu, Zhen; Lee, Jae Woo; Chandran, Kartik; Kim, Sungpyo; Sharma, Keshab; Khanal, Samir Kumar

    2014-02-01

    Aquaculture is one of the fastest-growing segments of the food economy in modern times. It is also being considered as an important source of greenhouse gas (GHG) emissions. To date, limited studies have been conducted on GHG emissions from aquaculture system. In this study, daily addition of fish feed and soluble starch at a carbon-to-nitrogen (C/N) ratio of 16:1 (w/w) was used to examine the effects of carbohydrate addition on nitrogen transformations and GHG emissions in a zero-water exchange intensive aquaculture system. The addition of soluble starch stimulated heterotrophic bacterial growth and denitrification, which led to lower total ammonia nitrogen, nitrite and nitrate concentrations in aqueous phase. About 76.2% of the nitrogen output was emitted in the form of gaseous nitrogen (i.e., N2 and N2O) in the treatment tank (i.e., aquaculture tank with soluble starch addition), while gaseous nitrogen accounted for 33.3% of the nitrogen output in the control tank (i.e., aquaculture tank without soluble starch addition). Although soluble starch addition reduced daily N2O emissions by 83.4%, it resulted in an increase of daily carbon dioxide (CO2) emissions by 91.1%. Overall, starch addition did not contribute to controlling the GHG emissions from the aquaculture system.

  16. Influence of polymeric additives on the cohesion and mechanical properties of calcium phosphate cements.

    PubMed

    An, Jie; Wolke, Joop G C; Jansen, John A; Leeuwenburgh, Sander C G

    2016-03-01

    To expand the clinical applicability of calcium phosphate cements (CPCs) to load-bearing anatomical sites, the mechanical and setting properties of CPCs need to be improved. Specifically, organic additives need to be developed that can overcome the disintegration and brittleness of CPCs. Hence, we compared two conventional polymeric additives (i.e. carboxylmethylcellulose (CMC) and hyaluronan (HA)) with a novel organic additive that was designed to bind to calcium phosphate, i.e. hyaluronan-bisphosphonate (HABP). The unmodified cement used in this study consisted of a powder phase of α-tricalcium phosphate (α-TCP) and liquid phase of 4% NaH2PO4·2H2O, while the modified cements were fabricated by adding 0.75 or 1.5 wt% of the polymeric additive to the cement. The cohesion of α-TCP was improved considerably by the addition of CMC and HABP. None of the additives improved the compression and bending strength of the cements, but the addition of 0.75% HABP resulted into a significantly increased cement toughness as compared to the other experimental groups. The stimulatory effects of HABP on the cohesion and toughness of the cements is hypothesized to derive from the strong affinity between the polymer-grafted bisphosphonate ligands and the calcium ions in the cement matrix.

  17. Genetic Diversity Influences the Response of the Brain to Developmental Lead Exposure

    PubMed Central

    Schneider, Jay S.; Talsania, Keyur; Mettil, William; Anderson, David W.

    2014-01-01

    Although extrinsic factors, such as nutritional status, and some intrinsic genetic factors may modify susceptibility to developmental lead (Pb) poisoning, no studies have specifically examined the influence of genetic background on outcomes from Pb exposure. In this study, we used gene microarray profiling to identify Pb-responsive genes in rats of different genetic backgrounds, including inbred (Fischer 344 (F344)) and outbred (Long Evans (LE), Sprague Dawley (SD)) strains, to investigate the role that genetic variation may play in influencing outcomes from developmental Pb exposure. Male and female animals received either perinatal (gestation through lactation) or postnatal (birth through weaning) exposure to Pb in food (0, 250, or 750 ppm). RNA was extracted from the hippocampus at day 55 and hybridized to Affymetrix Rat Gene 1.0 ST Arrays. There were significant strain-specific effects of Pb on the hippocampal transcriptome with 978 transcripts differentially expressed in LE rats across all experimental groups, 269 transcripts differentially expressed in F344 rats, and only 179 transcripts differentially expressed in SD rats. These results were not due to strain-related differences in brain accumulation of Pb. Further, no genes were consistently differentially regulated in all experimental conditions. There was no set of “Pb toxicity” genes that are a molecular signature for Pb neurotoxicity that transcended sex, exposure condition, and strain. These results demonstrate the influence that strain and genetic background play in modifying the brain's response to developmental Pb exposure and may have relevance for better understanding the molecular underpinnings of the lack of a neurobehavioral signature in childhood Pb poisoning. PMID:24913800

  18. Genetic background influences nicotine-induced conditioned place preference and place aversion in mice.

    PubMed

    Ise, Yuya; Mori, Tomohisa; Katayama, Shirou; Suzuki, Tsutomu; Wang, Tzu-Chueh

    2014-01-01

    This study was designed to determine whether genetic differences influence the rewarding effects of nicotine in 4 inbred strains of mice (DBA/2, BALB/c, C3H, and C57BL/6). Nicotine (subcutaneous) induced a place preference in DBA/2 and BALB/c mice but a place aversion in C57BL/6 mice. A low dose of nicotine produced a significant place preference, whereas a high dose of nicotine produced place aversion in C3H mice. These effects were completely reversed by the nicotinic receptor antagonist mecamylamine. These results strongly suggest that a conditioned state, such as rewarding effects or aversive effects, can be influenced by genetic background.

  19. Genetic variants influencing effectiveness of exercise training programmes in obesity – an overview of human studies

    PubMed Central

    Ahmetov, II; Zmijewski, P

    2016-01-01

    Frequent and regular physical activity has significant benefits for health, including improvement of body composition and help in weight control. Consequently, promoting training programmes, particularly in those who are genetically predisposed, is a significant step towards controlling the presently increasing epidemic of obesity. Although the physiological responses of the human body to exercise are quite well described, the genetic background of these reactions still remains mostly unknown. This review not only summarizes the current evidence, through a literature review and the results of our studies on the influence of gene variants on the characteristics and range of the body's adaptive response to training, but also explores research organization problems, future trends, and possibilities. We describe the most reliable candidate genetic markers that are involved in energy balance pathways and body composition changes in response to training programmes, such as FTO, MC4R, ACE, PPARG, LEP, LEPR, ADRB2, and ADRB3. This knowledge can have an enormous impact not only on individualization of exercise programmes to make them more efficient and safer, but also on improved recovery, traumatology, medical care, diet, supplementation and many other areas. Nevertheless, the current studies still represent only the first steps towards a better understanding of the genetic factors that influence obesity-related traits, as well as gene variant x physical activity interactions, so further research is necessary. PMID:27601774

  20. Mouse models for studying genetic influences on factors determining smoking cessation success in humans

    PubMed Central

    Hall, F. Scott; Markou, Athina; Levin, Edward D.; Uhl, George R.

    2014-01-01

    Humans differ in their ability to quit using addictive substances, including nicotine, the major psychoactive ingredient in tobacco. For tobacco smoking, a substantial body of evidence, largely derived from twin studies, indicates that approximately half of these individual differences in ability to quit are heritable [1, 2], genetic influences that likely overlap with those for other addictive substances [3]. Both twin and molecular genetic studies support overlapping influences on nicotine addiction vulnerability and smoking cessation success, although there is little formal analysis of the twin data that supports this important point [2, 3]. None of the current datasets provides clear data concerning which heritable factors might provide robust dimensions around which individuals differ in ability to quit smoking. One approach to this problem is to test mice with genetic variations in genes that contain human variants that alter quit-success. This review considers which features of quit success should be included in a comprehensive approach to elucidating the genetics of quit success, and how those features may be modeled in mice. PMID:22304675

  1. Allele-specific chromatin immunoprecipitation studies show genetic influence on chromatin state in human genome.

    PubMed

    Kadota, Mitsutaka; Yang, Howard H; Hu, Nan; Wang, Chaoyu; Hu, Ying; Taylor, Philip R; Buetow, Kenneth H; Lee, Maxwell P

    2007-05-18

    Several recent studies have shown a genetic influence on gene expression variation, including variation between the two chromosomes within an individual and variation between individuals at the population level. We hypothesized that genetic inheritance may also affect variation in chromatin states. To test this hypothesis, we analyzed chromatin states in 12 lymphoblastoid cells derived from two Centre d'Etude du Polymorphisme Humain families using an allele-specific chromatin immunoprecipitation (ChIP-on-chip) assay with Affymetrix 10K SNP chip. We performed the allele-specific ChIP-on-chip assays for the 12 lymphoblastoid cells using antibodies targeting at RNA polymerase II and five post-translation modified forms of the histone H3 protein. The use of multiple cell lines from the Centre d'Etude du Polymorphisme Humain families allowed us to evaluate variation of chromatin states across pedigrees. These studies demonstrated that chromatin state clustered by family. Our results support the idea that genetic inheritance can determine the epigenetic state of the chromatin as shown previously in model organisms. To our knowledge, this is the first demonstration in humans that genetics may be an important factor that influences global chromatin state mediated by histone modification, the hallmark of the epigenetic phenomena.

  2. Influence of mineral oil and additives on microhardness and surface chemistry of magnesium oxide (001) surface

    NASA Technical Reports Server (NTRS)

    Miyoshi, K.; Shigaki, H.; Buckley, D. H.

    1982-01-01

    X-ray photoelectron spectroscopy analyses and hardness experiments were conducted with cleaved magnesium oxide /001/ surfaces. The magnesium oxide bulk crystals were cleaved into specimens along the /001/ surface, and indentations were made on the cleaved surface in laboratory air, in nitrogen gas, or in degassed mineral oil with and without an additive while not exposing specimen surface to any other environment. The various additives examined contained sulfur, phosphorus, chlorine, or oleic acid. The sulfur-containing additive exhibited the highest hardness and smallest dislocation patterns evidencing plastic deformation; the chlorine-containing additive exhibited the lowest hardness and largest dislocation patterns evidencing plastic deformation. Hydrocarbon and chloride (MgCl2) films formed on the magnesium oxide surface. A chloride film was responsible for the lowest measured hardness.

  3. Influence of parameter settings in automated scoring of AFLPs on population genetic analysis.

    PubMed

    Herrmann, Marc; Holderegger, Rolf; Van Strien, Maarten J

    2013-01-01

    The use of procedures for the automated scoring of amplified fragment length polymorphisms (AFLP) fragments has recently increased. Corresponding software does not only automatically score the presence or absence of AFLP fragments, but also allows an evaluation of how different settings of scoring parameters influence subsequent population genetic analyses. In this study, we used the automated scoring package rawgeno to evaluate how five scoring parameters influence the number of polymorphic bins and estimates of pairwise genetic differentiation between populations (F(st)). Steps were implemented in r to automatically run the scoring process in rawgeno for a set of different parameter combinations. While we found the scoring parameters minimum bin width and minimum number of samples per bin to have only weak influence on pairwise F(st) values, maximum bin width and bin reproducibility had much stronger effects. The minimum average bin fluorescence scoring parameter affected F(st) values in an only moderate way. At a range of scoring parameters around the default settings of rawgeno, the number of polymorphic bins as well as pairwise F(st) values stayed rather constant. This study thus shows the particularities of AFLP scoring, be it either manual or automatical, can have profound effects on subsequent population genetic analysis.

  4. Behavioral and Environmental Modification of the Genetic Influence on Body Mass Index: A Twin Study.

    PubMed

    Horn, Erin E; Turkheimer, Eric; Strachan, Eric; Duncan, Glen E

    2015-07-01

    Body mass index (BMI) has a strong genetic basis, with a heritability around 0.75, but is also influenced by numerous behavioral and environmental factors. Aspects of the built environment (e.g., environmental walkability) are hypothesized to influence obesity by directly affecting BMI, by facilitating or inhibiting behaviors such as physical activity that are related to BMI, or by suppressing genetic tendencies toward higher BMI. The present study investigated relative influences of physical activity and walkability on variance in BMI using 5079 same-sex adult twin pairs (70 % monozygotic, 65 % female). High activity and walkability levels independently suppressed genetic variance in BMI. Estimating their effects simultaneously, however, suggested that the walkability effect was mediated by activity. The suppressive effect of activity on variance in BMI was present even with a tendency for low-BMI individuals to select into environments that require higher activity levels. Overall, our results point to community- or macro-level interventions that facilitate individual-level behaviors as a plausible approach to addressing the obesity epidemic among US adults.

  5. Genetic Influences on Brain Gene Expression in Rats Selected for Tameness and Aggression

    PubMed Central

    Heyne, Henrike O.; Lautenschläger, Susann; Nelson, Ronald; Besnier, François; Rotival, Maxime; Cagan, Alexander; Kozhemyakina, Rimma; Plyusnina, Irina Z.; Trut, Lyudmila; Carlborg, Örjan; Petretto, Enrico; Kruglyak, Leonid; Pääbo, Svante; Schöneberg, Torsten; Albert, Frank W.

    2014-01-01

    Interindividual differences in many behaviors are partly due to genetic differences, but the identification of the genes and variants that influence behavior remains challenging. Here, we studied an F2 intercross of two outbred lines of rats selected for tame and aggressive behavior toward humans for >64 generations. By using a mapping approach that is able to identify genetic loci segregating within the lines, we identified four times more loci influencing tameness and aggression than by an approach that assumes fixation of causative alleles, suggesting that many causative loci were not driven to fixation by the selection. We used RNA sequencing in 150 F2 animals to identify hundreds of loci that influence brain gene expression. Several of these loci colocalize with tameness loci and may reflect the same genetic variants. Through analyses of correlations between allele effects on behavior and gene expression, differential expression between the tame and aggressive rat selection lines, and correlations between gene expression and tameness in F2 animals, we identify the genes Gltscr2, Lgi4, Zfp40, and Slc17a7 as candidate contributors to the strikingly different behavior of the tame and aggressive animals. PMID:25189874

  6. Influence of grinding on service properties of VT-22 powder applied in additive technologies

    NASA Astrophysics Data System (ADS)

    Zakharov, M. N.; Rybalko, O. F.; Romanova, O. V.; Gelchinskiy, B. R.; Il’inykh, S. A.; Krashaninin, V. A.

    2017-01-01

    Powder of titanium alloy (VT-22) produced by plasma-spraying was subjected to grinding to obtain powder with size less 100 microns. These powders were sprayed by plasma unit using two types of gases, namely, air and air with methane (spraying in water and sputtering of coating on steel support). Influence of grinding time on yield of powder of required fraction was studied. Morphology and phase composition of the grinded powder and plasma sprayed one were under investigation. In the result of experiments, it appears that the grinding time genuinely influences the chemical and phase compositions, but there is no effect on physical-processing properties. For powders after plasma spraying some changes of non-metal elements content were detected by chemical analysis. Using gaseous mixture of air and methane in plasma spraying unit leads to formation of a new phase in the powder according X-ray diffraction data.

  7. Genetic variation in social environment construction influences the development of aggressive behavior in Drosophila melanogaster.

    PubMed

    Saltz, J B

    2017-04-01

    Individuals are not merely subject to their social environments; they choose and create them, through a process called social environment (or social niche) construction. When genotypes differ in social environment-constructing behaviors, different genotypes are expected to experience different social environments. As social experience often affects behavioral development, quantitative genetics and psychology theories predict that genetic variation in social environment construction should have an important role in determining phenotypic variation; however, this hypothesis has not been tested directly. I identify multiple mechanisms of social environment construction that differ among natural genotypes of Drosophila melanogaster and investigate their consequences for the development of aggressive behavior. Male genotypes differed in the group sizes that they preferred and in their aggressive behavior; both of these behaviors influenced social experience, demonstrating that these behaviors function as social environment-constructing traits. Further, the effects of social experience-as determined in part by social environment construction-carried over to affect focal male aggression at a later time and with a new opponent. These results provide manipulative experimental support for longstanding hypotheses in psychology, that genetic variation in social environment construction has a causal role in behavioral development. More broadly, these results imply that studies of the genetic basis of complex traits should be expanded to include mechanisms by which genetic variation shapes the environments that individuals experience.

  8. Ancient Humans Influenced the Current Spatial Genetic Structure of Common Walnut Populations in Asia

    PubMed Central

    Pollegioni, Paola; Woeste, Keith E.; Chiocchini, Francesca; Del Lungo, Stefano; Olimpieri, Irene; Tortolano, Virginia; Clark, Jo; Hemery, Gabriel E.; Mapelli, Sergio; Malvolti, Maria Emilia

    2015-01-01

    Common walnut (Juglans regia L) is an economically important species cultivated worldwide for its wood and nuts. It is generally accepted that J. regia survived and grew spontaneously in almost completely isolated stands in its Asian native range after the Last Glacial Maximum. Despite its natural geographic isolation, J. regia evolved over many centuries under the influence of human management and exploitation. We evaluated the hypothesis that the current distribution of natural genetic resources of common walnut in Asia is, at least in part, the product of ancient anthropogenic dispersal, human cultural interactions, and afforestation. Genetic analysis combined with ethno-linguistic and historical data indicated that ancient trade routes such as the Persian Royal Road and Silk Road enabled long-distance dispersal of J. regia from Iran and Trans-Caucasus to Central Asia, and from Western to Eastern China. Ancient commerce also disrupted the local spatial genetic structure of autochthonous walnut populations between Tashkent and Samarkand (Central-Eastern Uzbekistan), where the northern and central routes of the Northern Silk Road converged. A significant association between ancient language phyla and the genetic structure of walnut populations is reported even after adjustment for geographic distances that could have affected both walnut gene flow and human commerce over the centuries. Beyond the economic importance of common walnut, our study delineates an alternative approach for understanding how the genetic resources of long-lived perennial tree species may be affected by the interaction of geography and human history. PMID:26332919

  9. Ancient Humans Influenced the Current Spatial Genetic Structure of Common Walnut Populations in Asia.

    PubMed

    Pollegioni, Paola; Woeste, Keith E; Chiocchini, Francesca; Del Lungo, Stefano; Olimpieri, Irene; Tortolano, Virginia; Clark, Jo; Hemery, Gabriel E; Mapelli, Sergio; Malvolti, Maria Emilia

    2015-01-01

    Common walnut (Juglans regia L) is an economically important species cultivated worldwide for its wood and nuts. It is generally accepted that J. regia survived and grew spontaneously in almost completely isolated stands in its Asian native range after the Last Glacial Maximum. Despite its natural geographic isolation, J. regia evolved over many centuries under the influence of human management and exploitation. We evaluated the hypothesis that the current distribution of natural genetic resources of common walnut in Asia is, at least in part, the product of ancient anthropogenic dispersal, human cultural interactions, and afforestation. Genetic analysis combined with ethno-linguistic and historical data indicated that ancient trade routes such as the Persian Royal Road and Silk Road enabled long-distance dispersal of J. regia from Iran and Trans-Caucasus to Central Asia, and from Western to Eastern China. Ancient commerce also disrupted the local spatial genetic structure of autochthonous walnut populations between Tashkent and Samarkand (Central-Eastern Uzbekistan), where the northern and central routes of the Northern Silk Road converged. A significant association between ancient language phyla and the genetic structure of walnut populations is reported even after adjustment for geographic distances that could have affected both walnut gene flow and human commerce over the centuries. Beyond the economic importance of common walnut, our study delineates an alternative approach for understanding how the genetic resources of long-lived perennial tree species may be affected by the interaction of geography and human history.

  10. An application of LOH analysis for detecting the genetic influences of space environmental radiation

    NASA Astrophysics Data System (ADS)

    Yatagai, F.; Umebayashi, Y.; Honma, M.; Abe, T.; Suzuki, H.; Shimazu, T.; Ishioka, N.; Iwaki, M.

    To detect the genetic influence of space environmental radiation at the chromosome level we proposed an application of loss of heterozygosity LOH analysis system for the mutations induced in human lymphoblastoid TK6 cells Surprisingly we succeeded the mutation detection in the frozen dells which were exposed to a low-dose 10 cGy of carbon-ion beam irradiation Mutation assays were performed within a few days or after about one month preservation at --80 r C following irradiation The results showed an increase in mutation frequency at the thymidine kinase TK gene locus 1 6-fold 2 5 X 10 -6 to 3 9 X 10 -6 and 2 1-fold 2 5 X 10 -6 to 5 3 X 10 -6 respectively Although the relative distributions of mutation classes were not changed by the radiation exposure in either assay an interesting characteristic was detected using this LOH analysis system two TK locus markers and eleven microsatellite loci spanning chromosome 17 The radiation-specific patterns of interstitial deletions were observed in the hemizygous LOH mutants which were considered as a result of end-joining repair of carbon ion-induced DNA double-strand breaks These results clearly demonstrate that this analysis can be used for the detection of low-dose ionizing radiation effects in the frozen cells In addition we performed so called adaptive response experiments in which TK6 cells were pre-irradiated with low-dose 2 5 sim 10 cGy of X-ray and then exposed to challenging dose 2Gy of X-rays Interestingly the

  11. Analysis of Social and Genetic Factors Influencing Heterosexual Transmission of HIV within Serodiscordant Couples in the Henan Cohort.

    PubMed

    Zhu, Qian; Zhu, Peng; Zhang, Yilei; Li, Jie; Ma, Xuejun; Li, Ning; Wang, Qi; Xue, Xiujuan; Luo, Le; Li, Zizhao; Ring, Huijun Z; Ring, Brian Z; Su, Li

    2015-01-01

    There is considerable variability between individuals in susceptibility to infection by human immunodeficiency virus (HIV). Many social, clinical and genetic factors are known to contribute to the likelihood of HIV transmission, but there is little consensus on the relative importance and potential interaction of these factors. Additionally, recent studies of several variants in chemokine receptors have identified alleles that may be predictive of HIV transmission and disease progression; however the strengths and directions of the associations of these genetic markers with HIV transmission have markedly varied between studies. To better identify factors that predict HIV transmission in a Chinese population, 180 cohabiting serodiscordant couples were enrolled for study by the Henan Center for Disease Prevention and Control, and transmission and progression of HIV infection were regularly measured. We found that anti-retroviral therapy, education level, and condom use were the most significant factors in determining likelihood of HIV transmission in this study. We also assessed ten variants in three genes (CXCL12, CCR2, and CCR5) that have been shown to influence HIV transmission. We found two tightly linked variants in CCR2 and CCR5, rs1799864 and rs1800024, have a significant positive association with transmission as recessive models (OR>10, P value=0.011). Mixed effects models showed that these genetic variants both retained significance when assessed with either treatment or condom use. These markers of transmission susceptibility may therefore serve to help stratify individuals by risk for HIV transmission.

  12. Influence of different additives on the reaction between hydrated lime and sulfur dioxide

    SciTech Connect

    Cunill, F.; Izquierdo, J.F.; Martinez, J.C.; Tejero, J.; Querol, J. )

    1991-11-01

    Five commercial calcium hydroxides were tested in a fixed-bed reactor for SO{sub 2} removal at bag-filter conditions. Small amounts of different additives (fly ash, NaOH, NaCl and CaCl{sub 2}) were added to the commercial Ca(OH){sub 2} which showed the greatest reactivity respect to SO{sub 2} (by a drying process). Fly ash performance was negative whereas the rest of additives enhanced the desulfurization power of the Ca(OH){sub 2}, specially NaOH (due to its basic and deliquescent character) and CaCl{sub 2} (by its delilquescence). CaCl{sub 2} has been the best additive tested at the used experimental conditions.

  13. Influence of oxide-based sintering additives on densification and mechanical behavior of tricalcium phosphate (TCP).

    PubMed

    Bhatt, Himesh A; Kalita, Samar J

    2007-05-01

    In this research, we studied and analyzed the effects of four different oxide-based sintering additives on densification, mechanical behavior, biodegradation and biocompatibility of tricalcium phosphate (TCP) bioceramics. Selective sintering additives were introduced into pure TCP ceramics, in small quantities, through homogeneous mixing, using a mortar and pestle. The consequent powders of different compositions were pressed into cylindrical compacts, uniaxially and sintered at elevated temperatures, 1150 degrees C and 1250 degrees C, separately in a muffle furnace. X-ray powder diffraction technique was used to analyze the phase-purity of TCP after sintering. Hardness of these sintered specimens was evaluated using a Vickers hardness tester. Sintered cylindrical samples were tested under uniaxial compressive loading, as a function of composition to determine their failure strength. Biodegradation studies conducted using simulated body fluid under dynamic environment, revealed that these additives could control the rate of resorption and hardness degradation of TCP ceramics.

  14. The interplay of genetic influences and social processes in developmental theory: specific mechanisms are coming into view.

    PubMed

    Reiss, D; Neiderhiser, J M

    2000-01-01

    In the coming years we can look forward to research that clarifies specific mechanisms that account for the interplay between genetic and environmental influences on psychological development. Certain misconceptions, arising from research traditions initiated by Francis Galton on the one hand and G. Stanley Hall on the other, may now be set aside in the light of new evidence. Three important findings promise a new synthesis. First, while each of us is born with about 100,000 genes that, under ordinary circumstances, do not change, the expression of these genes on behavior is dynamic. Some genetic influences are expressed early in development, but others are manifest many years later. Second, genetic factors often account not only for some of the individual differences in the measures of adjustments we typically use to monitor development but also for individual differences in environmental experiences that covary with those measures of adjustment. Indeed, genetic factors have been found to account for a surprising amount of covariance between measures of the social environment and of adjustment in young children, adolescents, and adults. Third, the expression of genetic influences are very malleable and responsive to the social environment. These new findings are revealing specific mechanisms for the interplay of genetic and social environmental factors in four domains. First, the social environment may play both a necessary and specific role in the expression of particular genetic influences on a range of behaviors from depression to social responsibility. Second, an understanding of the interplay between the social environment and genetics may lead to a clearer definition of the phenotypic manifestations of particular genetic influences. Third, we will-as a result of these studies-have a clearer fix on the timing of important events and their sequence in development. Fourth, this new genre of work promises to illumine more completely mechanisms by which the

  15. Influence of Additive and Multiplicative Structure and Direction of Comparison on the Reversal Error

    ERIC Educational Resources Information Center

    González-Calero, José Antonio; Arnau, David; Laserna-Belenguer, Belén

    2015-01-01

    An empirical study has been carried out to evaluate the potential of word order matching and static comparison as explanatory models of reversal error. Data was collected from 214 undergraduate students who translated a set of additive and multiplicative comparisons expressed in Spanish into algebraic language. In these multiplicative comparisons…

  16. Influence of additions of nanoparticles TaC on a microstructure laser cladding

    NASA Astrophysics Data System (ADS)

    Murzakov, M. A.; Petrovskiy, V. N.; Polski, V. I.; Mironov, V. D.; Prokopova, N. M.; Tret'yakov, E. V.

    2015-03-01

    The features of a laser cladding of nickel-based powders with TaC nanopowder additives have been experimentally investigated. The minimum depth of pro-melting of a basis, microhardness distribution over the cross section of the substrate, and the saturation of the metal of the cladding with basis components has been determined in the experiments.

  17. Reduction of carcinogenic 4(5)-methylimidazole in a caramel model system: influence of food additives.

    PubMed

    Seo, Seulgi; Ka, Mi-Hyun; Lee, Kwang-Geun

    2014-07-09

    The effect of various food additives on the formation of carcinogenic 4(5)-methylimidazole (4-MI) in a caramel model system was investigated. The relationship between the levels of 4-MI and various pyrazines was studied. When glucose and ammonium hydroxide were heated, the amount of 4-MI was 556 ± 1.3 μg/mL, which increased to 583 ± 2.6 μg/mL by the addition of 0.1 M of sodium sulfite. When various food additives, such as 0.1 M of iron sulfate, magnesium sulfate, zinc sulfate, tryptophan, and cysteine were added, the amount of 4-MI was reduced to 110 ± 0.7, 483 ± 2.0, 460 ± 2.0, 409 ± 4.4, and 397 ± 1.7 μg/mL, respectively. The greatest reduction, 80%, occurred with the addition of iron sulfate. Among the 12 pyrazines, 2-ethyl-6-methylpyrazine with 4-MI showed the highest correlation (r = -0.8239).

  18. Additive genetic variation in resistance of Nile tilapia (Oreochromis niloticus) to Streptococcus iniae and S. agalactiae capsular type Ib: is genetic resistance correlated?

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Streptococcus (S.) iniae and S. agalactiae are both economically important Gram positive bacterial pathogens affecting the globally farmed tilapia (Oreochromis spp.). Historically control of these bacteria in tilapia culture has included biosecurity, therapeutants and vaccination strategies. Genet...

  19. Influence of additional adhesive application on the microtensile bond strength of adhesive systems.

    PubMed

    de Silva, André Luís Faria; Lima, Débora Alves Nunes Leite; de Souza, Grace Mendonça Dias; dos Santos, Carlos Tadeu Dias; Paulillo, Luís Alexandre Maffei Sartini

    2006-01-01

    This study evaluated microtensile bond strength (pTBS) when an additional adhesive layer was applied to the dentin surface. Thirty-five human third molars were flattened to expose the occlusal dentin surface. The teeth were randomly assigned to 7 experimental groups: G1-Single Bond (SB); G2-additional layer of SB; G3--a layer of Scotchbond Multi-purpose (SMP) adhesive applied over SB; G4-Clearfil SE Bond (CE); G5-additional layer of CE; G6-Adper Prompt (AP) and G7-additional layer of AP. For the G2, G3, G5 and G7 groups, the first adhesive layer was light-cured before application of the additional layer. After bonding procedures, 5-mm high composite crowns were incrementally built up. The samples were sectioned to obtain 0.9 x 0.9 beams, which were tested under tension at a crosshead speed of 0.5-mm/minute until failure. The failure mode and adhesive thickness were evaluated under SEM. The pTBS data were analyzed by 1-way ANOVA and post-hoc Ducan's Test (a=0.05). Mean adhesive thickness was analyzed by 1-way ANOVA and post-hoc Tukey's test (a=0.05). The results indicated that G3 presented the highest microTBS and the thickest adhesive layer. G6 and G7 presented the lowest microTBS values. When solvent-free adhesives systems were used, microTBS values were not affected by the thicker layer.

  20. Influence of early life exposure, host genetics and diet on the mouse gut microbiome and metabolome.

    PubMed

    Snijders, Antoine M; Langley, Sasha A; Kim, Young-Mo; Brislawn, Colin J; Noecker, Cecilia; Zink, Erika M; Fansler, Sarah J; Casey, Cameron P; Miller, Darla R; Huang, Yurong; Karpen, Gary H; Celniker, Susan E; Brown, James B; Borenstein, Elhanan; Jansson, Janet K; Metz, Thomas O; Mao, Jian-Hua

    2016-11-28

    Although the gut microbiome plays important roles in host physiology, health and disease(1), we lack understanding of the complex interplay between host genetics and early life environment on the microbial and metabolic composition of the gut. We used the genetically diverse Collaborative Cross mouse system(2) to discover that early life history impacts the microbiome composition, whereas dietary changes have only a moderate effect. By contrast, the gut metabolome was shaped mostly by diet, with specific non-dietary metabolites explained by microbial metabolism. Quantitative trait analysis identified mouse genetic trait loci (QTL) that impact the abundances of specific microbes. Human orthologues of genes in the mouse QTL are implicated in gastrointestinal cancer. Additionally, genes located in mouse QTL for Lactobacillales abundance are implicated in arthritis, rheumatic disease and diabetes. Furthermore, Lactobacillales abundance was predictive of higher host T-helper cell counts, suggesting an important link between Lactobacillales and host adaptive immunity.

  1. Influence of early life exposure, host genetics and diet on the mouse gut microbiome and metabolome

    SciTech Connect

    Snijders, Antoine M.; Langley, Sasha A.; Kim, Young-Mo; Brislawn, Colin J.; Noecker, Cecilia; Zink, Erika M.; Fansler, Sarah J.; Casey, Cameron P.; Miller, Darla R.; Huang, Yurong; Karpen, Gary H.; Celniker, Susan E.; Brown, James B.; Borenstein, Elhanan; Jansson, Janet K.; Metz, Thomas O.; Mao, Jian-Hua

    2016-11-28

    Although the gut microbiome plays important roles in host physiology, health and disease1, we lack understanding of the complex interplay between host genetics and early life environment on the microbial and metabolic composition of the gut.We used the genetically diverse Collaborative Cross mouse system2 to discover that early life history impacts themicrobiome composition, whereas dietary changes have only a moderate effect. By contrast, the gut metabolome was shaped mostly by diet, with specific non-dietary metabolites explained by microbial metabolism. Quantitative trait analysis identified mouse genetic trait loci (QTL) that impact the abundances of specific microbes. Human orthologues of genes in the mouse QTL are implicated in gastrointestinal cancer. Additionally, genes located in mouse QTL for Lactobacillales abundance are implicated in arthritis, rheumatic disease and diabetes. Furthermore, Lactobacillales abundance was predictive of higher host T-helper cell counts, suggesting an important link between Lactobacillales and host adaptive immunity.

  2. Affiliative Behavior, Ultrasonic Communication and Social Reward Are Influenced by Genetic Variation in Adolescent Mice

    PubMed Central

    Panksepp, Jules B.; Jochman, Kimberly A.; Kim, Joseph U.; Koy, Jamie J.; Wilson, Ellie D.; Chen, QiLiang; Wilson, Clarinda R.; Lahvis, Garet P.

    2007-01-01

    Social approach is crucial for establishing relationships among individuals. In rodents, social approach has been studied primarily within the context of behavioral phenomena related to sexual reproduction, such as mating, territory defense and parental care. However, many forms of social interaction occur before the onset of reproductive maturity, which suggests that some processes underlying social approach among juvenile animals are probably distinct from those in adults. We conducted a longitudinal study of social investigation (SI) in mice from two inbred strains to assess the extent to which genetic factors influence the motivation for young mice to approach one another. Early-adolescent C57BL/6J (B6) mice, tested 4–6 days after weaning, investigated former cage mates to a greater degree than BALB/cJ (BALB) mice, irrespective of the sex composition within an interacting pair. This strain difference was not due to variation in maternal care, the phenotypic characteristics of stimulus mice or sensitivity to the length of isolation prior to testing, nor was it attributable to a general difference in appetitive motivation. Ultrasonic vocalization (USV) production was positively correlated with the SI responses of mice from both strains. Interestingly, several USV characteristics segregated with the genetic background of young mice, including a higher average frequency and shorter duration for the USVs emitted by B6 mice. An assessment of conditioned place preference responses indicated that there was a strain-dependent difference in the rewarding nature of social contact. As adolescent mice aged, SI responses gradually became less sensitive to genetic background and more responsive to the particular sex of individuals within an interacting pair. We have thus identified a specific, genetic influence on the motivation of early-adolescent mice to approach one another. Consistent with classical theories of motivation, which propose a functional relationship between

  3. Intentional genetic introgression influences survival of adults and subadults in a small, inbred felid population.

    PubMed

    Benson, John F; Hostetler, Jeffrey A; Onorato, David P; Johnson, Warren E; Roelke, Melody E; O'Brien, Stephen J; Jansen, Deborah; Oli, Madan K

    2011-09-01

    1. Inbreeding and low genetic diversity can cause reductions in individual fitness and increase extinction risk in animal populations. Intentional introgression, achieved by releasing genetically diverse individuals into inbred populations, has been used as a conservation tool to improve demographic performance in endangered populations. 2. By the 1980s, Florida panthers (Puma concolor coryi) had been reduced to a small, inbred population that appeared to be on the brink of extinction. In 1995, female pumas from Texas (P. c. stanleyana) were released in occupied panther range as part of an intentional introgression programme to restore genetic variability and improve demographic performance of panthers. 3. We used 25 years (1981-2006) of continuous radiotelemetry and genetic data to estimate and model subadult and adult panther survival and cause-specific mortality to provide rigorous sex and age class-specific survival estimates and evaluate the effect of the introgression programme on these parameters. 4. Genetic ancestry influenced annual survival of subadults and adults after introgression, as F(1) generation admixed panthers ( = 0·98) survived better than pre-introgression type panthers ( = 0·77) and other admixed individuals ( = 0·82). Furthermore, heterozygosity was higher for admixed panthers relative to pre-introgression type panthers and positively influenced survival. 5. Our results are consistent with hybrid vigour; however, extrinsic factors such as low density of males in some areas of panther range may also have contributed to higher survival of F(1) panthers. Regardless, improved survival of F(1) subadults and adults likely contributed to the numerical increase in panthers following introgression, and our results indicate that intentional admixture, achieved here by releasing individuals from another population, appears to have been successful in improving demographic performance in this highly endangered population.

  4. Influence of an organic and an inorganic additive on the crystallization of dicalcium phosphate dihydrate

    NASA Astrophysics Data System (ADS)

    Anee, T. K.; Meenakshi Sundaram, N.; Arivuoli, D.; Ramasamy, P.; Narayana Kalkura, S.

    2005-12-01

    Dicalcium phosphate dihydrate (DCPD) was crystallized by single diffusion method under physiological pH, in the presence of cobalt and malic acid. The morphology, composition and microstructure of the grown crystals were analyzed using EDTA titration, UV-Visible, X-ray diffraction (XRD), Fourier transform infrared spectroscopy (FTIR), atomic absorption spectroscopy (AAS) and scanning electron microscopy (SEM). These analyses showed that the grown crystals were Co 2+-doped DCPD. The temperature has influenced the dopant entry into DCPD crystals, but the dopant content and temperature were having not much influence on the crystal morphology. In pathological crystallization, the size and morphology are very important since they decide the mode of treatment to adopt. The morphological changes arise when the growth assay is doped with cobalt and malic acid. The effect of malic acid on the crystallization was highly specific, adsorbing on certain crystal faces during growth and producing different morphologies. At higher concentration, the morphology showed a feature frequently encountered in biomineralization, the orientational ordering in [0 0 1], leading to elongated crystals.

  5. Anthropogenics: human influence on global and genetic homogenization of parasite populations.

    PubMed

    Zarlenga, Dante S; Hoberg, Eric; Rosenthal, Benjamin; Mattiucci, Simonetta; Nascetti, Giuseppe

    2014-12-01

    The distribution, abundance, and diversity of life on Earth have been greatly shaped by human activities. This includes the geographic expansion of parasites; however, measuring the extent to which humans have influenced the dissemination and population structure of parasites has been challenging. In-depth comparisons among parasite populations extending to landscape-level processes affecting disease emergence have remained elusive. New research methods have enhanced our capacity to discern human impact, where the tools of population genetics and molecular epidemiology have begun to shed light on our historical and ongoing influence. Only since the 1990s have parasitologists coupled morphological diagnosis, long considered the basis of surveillance and biodiversity studies, with state-of-the-art tools enabling variation to be examined among, and within, parasite populations. Prior to this time, populations were characterized only by phenotypic attributes such as virulence, infectivity, host range, and geographical location. The advent of genetic/molecular methodologies (multilocus allozyme electrophoresis, polymerase chain reaction-DNA [PCR-DNA] fragments analysis, DNA sequencing, DNA microsatellites, single nucleotide polymorphisms, etc.) have transformed our abilities to reveal variation among, and within, populations at local, regional, landscape, and global scales, and thereby enhanced our understanding of the biosphere. Numerous factors can affect population structure among parasites, e.g., evolutionary and ecological history, mode of reproduction and transmission, host dispersal, and life-cycle complexity. Although such influences can vary considerably among parasite taxa, anthropogenic factors are demonstrably perturbing parasite fauna. Minimal genetic structure among many geographically distinct (isolated) populations is a hallmark of human activity, hastened by geographic introductions, environmental perturbation, and global warming. Accelerating

  6. A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.

    PubMed

    Holmans, Peter; Moskvina, Valentina; Jones, Lesley; Sharma, Manu; Vedernikov, Alexey; Buchel, Finja; Saad, Mohamad; Sadd, Mohamad; Bras, Jose M; Bettella, Francesco; Nicolaou, Nayia; Simón-Sánchez, Javier; Mittag, Florian; Gibbs, J Raphael; Schulte, Claudia; Durr, Alexandra; Guerreiro, Rita; Hernandez, Dena; Brice, Alexis; Stefánsson, Hreinn; Majamaa, Kari; Gasser, Thomas; Heutink, Peter; Wood, Nicholas W; Martinez, Maria; Singleton, Andrew B; Nalls, Michael A; Hardy, John; Morris, Huw R; Williams, Nigel M

    2013-03-01

    Parkinson's disease (PD) is the second most common neurodegenerative disease affecting 1-2% in people >60 and 3-4% in people >80. Genome-wide association (GWA) studies have now implicated significant evidence for association in at least 18 genomic regions. We have studied a large PD-meta analysis and identified a significant excess of SNPs (P < 1 × 10(-16)) that are associated with PD but fall short of the genome-wide significance threshold. This result was independent of variants at the 18 previously implicated regions and implies the presence of additional polygenic risk alleles. To understand how these loci increase risk of PD, we applied a pathway-based analysis, testing for biological functions that were significantly enriched for genes containing variants associated with PD. Analysing two independent GWA studies, we identified that both had a significant excess in the number of functional categories enriched for PD-associated genes (minimum P = 0.014 and P = 0.006, respectively). Moreover, 58 categories were significantly enriched for associated genes in both GWA studies (P < 0.001), implicating genes involved in the 'regulation of leucocyte/lymphocyte activity' and also 'cytokine-mediated signalling' as conferring an increased susceptibility to PD. These results were unaltered by the exclusion of all 178 genes that were present at the 18 genomic regions previously reported to be strongly associated with PD (including the HLA locus). Our findings, therefore, provide independent support to the strong association signal at the HLA locus and imply that the immune-related genetic susceptibility to PD is likely to be more widespread in the genome than previously appreciated.

  7. Influence of small Pt additions on Al/sub 2/O/sub 3/ scale adherence

    SciTech Connect

    Allam, I.M.; Akuezue, H.C.; Whittle, D.P.

    1980-01-01

    The effects of small Pt additions (1 or 3 wt %) on the oxidation behavior of Co-10Cr-11Al and a similar alloy containing Hf have been studied. An intermetallic phase was present in the alloy containing Hf and Pt but not in that containing Pt alone. The size and distribution of the intermetallic was comparable to that of similar alloys containing oxide dispersions produced by a controlled internal oxidation treatment. As a consequence it promoted the formation of inwardly growing Al/sub 2/O/sub 3/ pegs that helped key the surface scale to the substrate and improve the scale-metal adhesion in both isothermal and cyclic oxidation tests. The improvement in overall oxidation resistance relative to an addition-free alloy was considerable, and similar to that of the best oxide dispersion-containing alloys.

  8. The Influence of Novel Alloying Additions on the Performance of Magnesium Alloy AZ31B

    DTIC Science & Technology

    2013-11-01

    2009. 2 key criterion, so that potential strength increase from grain size reduction and/or solid solution strengthening would occur. Moreover, it...the following elements were selected: indium (In), bismuth (Bi), strontium (Sr), Zr, titanium (Ti), calcium (Ca), lithium (Li), yttrium (Y...addition, a relatively simple Mg alloy (AZ31B) was chosen as the baseline material. AZ31B is a solid -solution-strengthened alloy with minimal

  9. Influence of nutrient additions on cadmium bioaccumulation by aquatic invertebrates in littoral enclosures

    SciTech Connect

    Currie, R.S.; Muir, D.C.G.; Fairchild, W.L.; Holoka, M.H.; Hecky, R.E.

    1998-12-01

    Cadmium distribution and bioaccumulation were examined over a 2-year period (1991--1992) in two nutrient-enriched and two control littoral enclosures and in the littoral zone in Lake 382 (L382). Lake 382, a small oligotrophic lake, is located within the Experimental Lakes Area in northwestern Ontario, Canada, and received experimental Cd additions from 1987 to 1992. In the second year of this study, chlorophyll a and suspended C concentrations in the nutrient-enriched enclosures increased by 6.6 and 3.4 times, respectively, compared to the controls. As a result of increased particulate produced by the nutrient additions, Cd concentrations in water from the nutrient-enriched enclosures were higher compared to the controls. Estimated Cd/C concentrations in water were lower in the nutrient-enriched enclosures relative to the controls because of higher particle concentrations. Effects on Cd bioaccumulation were limited even though mesotrophic to eutrophic conditions were reached in the nutrient-enriched enclosures had consistently higher Cd concentrations compared to the controls, but significant differences were not detected. Enhanced accumulation of Cd-rich particulate matter by these organisms may account for this trend. Mussels and crayfish accumulated significantly more Cd when exposed in the lake compared to the enclosures. This observation is due to elevated Cd water concentrations in the lake compared to the enclosures because of continued Cd additions to the lake. These results suggest that the water route of exposure is an important pathway for Cd accumulation by these organisms.

  10. Influence of ecological and geological features on rangewide patterns of genetic structure in a widespread passerine

    PubMed Central

    Adams, R V; Burg, T M

    2015-01-01

    Geological and ecological features restrict dispersal and gene flow, leading to isolated populations. Dispersal barriers can be obvious physical structures in the landscape; however microgeographic differences can also lead to genetic isolation. Our study examined dispersal barriers at both macro- and micro-geographical scales in the black-capped chickadee, a resident North American songbird. Although birds have high dispersal potential, evidence suggests dispersal is restricted by barriers. The chickadee's range encompasses a number of physiological features which may impede movement and lead to divergence. Analyses of 913 individuals from 34 sampling sites across the entire range using 11 microsatellite loci revealed as many as 13 genetic clusters. Populations in the east were largely panmictic whereas populations in the western portion of the range showed significant genetic structure, which often coincided with large mountain ranges, such as the Cascade and Rocky Mountains, as well as areas of unsuitable habitat. Unlike populations in the central and southern Rockies, populations on either side of the northern Rockies were not genetically distinct. Furthermore, Northeast Oregon represents a forested island within the Great Basin; genetically isolated from all other populations. Substructuring at the microgeographical scale was also evident within the Fraser Plateau of central British Columbia, and in the southeast Rockies where no obvious physical barriers are present, suggesting additional factors may be impeding dispersal and gene flow. Dispersal barriers are therefore not restricted to large physical structures, although mountain ranges and large water bodies do play a large role in structuring populations in this study. PMID:25074576

  11. Influence of biochar addition on methane metabolism during thermophilic phase of composting.

    PubMed

    Sonoki, Tomonori; Furukawa, Toru; Jindo, Keiji; Suto, Koki; Aoyama, Masakazu; Sánchez-Monedero, Miguel Á

    2013-07-01

    CH(4) is known to be generated during the most active phase of composting, even in well-managed composting piles. In this manuscript, we studied the influence of biochar on the CH(4) metabolism during composting of cattle manure and local organic wastes. We evaluated the presence of methanogens and methanotrophs in the composting piles quantified by the level of mcrA encoding methyl coenzyme M reductase alpha subunit and pmoA encoding particulate methane monooxygenase. A decrease of methanogens (mcrA) and an increase of methanotrophs (pmoA) were measured in the composting mixture containing biochar during the most active phase of composting. During the thermophilic phase, the mcrA/pmoA ratios obtained in the composting piles with biochar were twofold lower than in the pile without biochar.

  12. Random transposon mutagenesis of the Saccharopolyspora erythraea genome reveals additional genes influencing erythromycin biosynthesis

    PubMed Central

    Fedashchin, Andrij; Cernota, William H.; Gonzalez, Melissa C.; Leach, Benjamin I.; Kwan, Noelle; Wesley, Roy K.; Weber, J. Mark

    2015-01-01

    A single cycle of strain improvement was performed in Saccharopolyspora erythraea mutB and 15 genotypes influencing erythromycin production were found. Genotypes generated by transposon mutagenesis appeared in the screen at a frequency of ∼3%. Mutations affecting central metabolism and regulatory genes were found, as well as hydrolases, peptidases, glycosyl transferases and unknown genes. Only one mutant retained high erythromycin production when scaled-up from micro-agar plug fermentations to shake flasks. This mutant had a knockout of the cwh1 gene (SACE_1598), encoding a cell-wall-associated hydrolase. The cwh1 knockout produced visible growth and morphological defects on solid medium. This study demonstrated that random transposon mutagenesis uncovers strain improvement-related genes potentially useful for strain engineering. PMID:26468041

  13. Influence of collagen addition on the thermal and morphological properties of chitosan/xanthan hydrogels.

    PubMed

    Horn, Marilia M; Martins, Virginia C A; Plepis, Ana Maria de Guzzi

    2015-09-01

    This study investigates the collagen influence on thermal and morphological characteristics of chitosan/xanthan hydrogels for potential tissue engineering applications. Anionic collagen was prepared by selective hydrolysis of type I collagen found in bovine tendons. Chitosan was obtained from the partial deacetylation of squid pen β-chitin and xanthan was acquired from Fluka. The hydrogels were obtained in different ratios and were characterized by thermal and morphological analysis. FT-IR suggested only electrostatic interactions between NH3(+) groups of chitosan and COO(-) groups of xanthan and collagen. Thermogravimetric curves showed that hydrogels contain a great amount of water (above 98%) and the presence of collagen does not change this characteristic. Freezing-bound water transition in DSC curves was shifted to higher values due to the increase of water/polymer interaction, mainly when different ratios of chitosan and xanthan were used. SEM images showed sheet-form structures with the presence of collagen promoting an increase in pore size.

  14. Genetic influences on adolescent sexual behavior: Why genes matter for environmentally oriented researchers.

    PubMed

    Harden, K Paige

    2014-03-01

    There are dramatic individual differences among adolescents in how and when they become sexually active adults, and early sexual activity is frequently cited as a cause of concern for scientists, policymakers, and the general public. Understanding the causes and developmental impact of adolescent sexual activity can be furthered by considering genes as a source of individual differences. Quantitative behavioral genetics (i.e., twin and family studies) and candidate gene association studies now provide clear evidence for the genetic underpinnings of individual differences in adolescent sexual behavior and related phenotypes. Genetic influences on sexual behavior may operate through a variety of direct and indirect mechanisms, including pubertal development, testosterone levels, and dopaminergic systems. Genetic differences may be systematically associated with exposure to environments that are commonly treated as causes of sexual behavior (gene-environment correlation). Possible gene-environment correlations pose a serious challenge for interpreting the results of much behavioral research. Multivariate, genetically informed research on adolescent sexual behavior compares twins and family members as a form of quasi experiment: How do twins who differ in their sexual experiences differ in their later development? The small but growing body of genetically informed research has already challenged dominant assumptions regarding the etiology and sequelae of adolescent sexual behavior, with some studies indicating possible positive effects of teenage sexuality. Studies of Gene × Environment interaction may further elucidate the mechanisms by which genes and environments combine to shape the development of sexual behavior and its psychosocial consequences. Overall, the existence of heritable variation in adolescent sexual behavior has profound implications for environmentally oriented theory and research.

  15. Genetic Influences on Adolescent Sexual Behavior: Why Genes Matter for Environmentally-Oriented Researchers

    PubMed Central

    Harden, K. Paige

    2013-01-01

    There are dramatic individual differences among adolescents in how and when they become sexually active adults, and “early” sexual activity is frequently cited as a cause of concern for scientists, policymakers, and the general public. Understanding the causes and developmental impact of adolescent sexual activity can be furthered by considering genes as a source of individual differences. Quantitative behavioral genetics (i.e., twin and family studies) and candidate gene association studies now provide clear evidence for the genetic underpinnings of individual differences in adolescent sexual behavior and related phenotypes. Genetic influences on sexual behavior may operate through a variety of direct and indirect mechanisms, including pubertal development, testosterone levels, and dopaminergic systems. Genetic differences may be systematically associated with exposure to environments that are commonly treated as causes of sexual behavior (gene-environment correlation). Possible gene-environment correlations pose a serious challenge for interpreting the results of much behavioral research. Multivariate, genetically-informed research on adolescent sexual behavior compares twins and family members as a form of “quasi-experiment”: How do twins who differ in their sexual experiences differ in their later development? The small but growing body of genetically-informed research has already challenged dominant assumptions regarding the etiology and sequelae of adolescent sexual behavior, with some studies indicating possible positive effects of teenage sexuality. Studies of gene × environment interaction may further elucidate the mechanisms by which genes and environments combine to shape the development of sexual behavior and its psychosocial consequences. Overall, the existence of heritable variation in adolescent sexual behavior has profound implications for environmentally-oriented theory and research. PMID:23855958

  16. Influence of Ethnolinguistic Diversity on the Sorghum Genetic Patterns in Subsistence Farming Systems in Eastern Kenya

    PubMed Central

    Labeyrie, Vanesse; Deu, Monique; Barnaud, Adeline; Calatayud, Caroline; Buiron, Marylène; Wambugu, Peterson; Manel, Stéphanie; Glaszmann, Jean-Christophe; Leclerc, Christian

    2014-01-01

    Understanding the effects of actions undertaken by human societies on crop evolution processes is a major challenge for the conservation of genetic resources. This study investigated the mechanisms whereby social boundaries associated with patterns of ethnolinguistic diversity have influenced the on-farm distribution of sorghum diversity. Social boundaries limit the diffusion of planting material, practices and knowledge, thus shaping crop diversity in situ. To assess the effect of social boundaries, this study was conducted in the contact zone between the Chuka, Mbeere and Tharaka ethnolinguistic groups in eastern Kenya. Sorghum varieties were inventoried and samples collected in 130 households. In all, 297 individual plants derived from seeds collected under sixteen variety names were characterized using a set of 18 SSR molecular markers and 15 morphological descriptors. The genetic structure was investigated using both a Bayesian assignment method and distance-based clustering. Principal Coordinates Analysis was used to describe the structure of the morphological diversity of the panicles. The distribution of the varieties and the main genetic clusters across ethnolinguistic groups was described using a non-parametric MANOVA and pairwise Fisher tests. The spatial distribution of landrace names and the overall genetic spatial patterns were significantly correlated with ethnolinguistic partition. However, the genetic structure inferred from molecular makers did not discriminate the short-cycle landraces despite their morphological distinctness. The cases of two improved varieties highlighted possible fates of improved materials. The most recent one was often given the name of local landraces. The second one, that was introduced a dozen years ago, displays traces of admixture with local landraces with differential intensity among ethnic groups. The patterns of congruence or discordance between the nomenclature of farmers’ varieties and the structure of both

  17. Founding events influence genetic population structure of sockeye salmon (Oncorhynchus nerka) in Lake Clark, Alaska

    USGS Publications Warehouse

    Ramstad, K.M.; Woody, C.A.; Sage, G.K.; Allendorf, F.W.

    2004-01-01

    Bottlenecks can have lasting effects on genetic population structure that obscure patterns of contemporary gene flow and drift. Sockeye salmon are vulnerable to bottleneck effects because they are a highly structured species with excellent colonizing abilities and often occupy geologically young habitats. We describe genetic divergence among and genetic variation within spawning populations of sockeye salmon throughout the Lake Clark area of Alaska. Fin tissue was collected from sockeye salmon representing 15 spawning populations of Lake Clark, Six-mile Lake, and Lake Iliamna. Allele frequencies differed significantly at 11 microsatellite loci in 96 of 105 pairwise population comparisons. Pairwise estimates of FST ranged from zero to 0.089. Six-mile Lake and Lake Clark populations have historically been grouped together for management purposes and are geographically proximate. However, Six-mile Lake populations are genetically similar to Lake Iliamna populations and are divergent from Lake Clark populations. The reduced allelic diversity and strong divergence of Lake Clark populations relative to Six-mile Lake and Lake Iliamna populations suggest a bottleneck associated with the colonization of Lake Clark by sockeye salmon. Geographic distance and spawning habitat differences apparently do not contribute to isolation and divergence among populations. However, temporal isolation based on spawning time and founder effects associated with ongoing glacial retreat and colonization of new spawning habitats contribute to the genetic population structure of Lake Clark sock-eye salmon. Nonequilibrium conditions and the strong influence of genetic drift caution against using estimates of divergence to estimate gene flow among populations of Lake Clark sockeye salmon.

  18. Minding the gap: Frequency of indels in mtDNA control region sequence data and influence on population genetic analyses

    USGS Publications Warehouse

    Pearce, J.M.

    2006-01-01

    Insertions and deletions (indels) result in sequences of various lengths when homologous gene regions are compared among individuals or species. Although indels are typically phylogenetically informative, occurrence and incorporation of these characters as gaps in intraspecific population genetic data sets are rarely discussed. Moreover, the impact of gaps on estimates of fixation indices, such as FST, has not been reviewed. Here, I summarize the occurrence and population genetic signal of indels among 60 published studies that involved alignments of multiple sequences from the mitochondrial DNA (mtDNA) control region of vertebrate taxa. Among 30 studies observing indels, an average of 12% of both variable and parsimony-informative sites were composed of these sites. There was no consistent trend between levels of population differentiation and the number of gap characters in a data block. Across all studies, the average influence on estimates of ??ST was small, explaining only an additional 1.8% of among population variance (range 0.0-8.0%). Studies most likely to observe an increase in ??ST with the inclusion of gap characters were those with < 20 variable sites, but a near equal number of studies with few variable sites did not show an increase. In contrast to studies at interspecific levels, the influence of indels for intraspecific population genetic analyses of control region DNA appears small, dependent upon total number of variable sites in the data block, and related to species-specific characteristics and the spatial distribution of mtDNA lineages that contain indels. ?? 2006 Blackwell Publishing Ltd.

  19. Genetic Background and Environment Influence the Effects of Mutations in pykF and Help Reveal Mechanisms Underlying Their Benefit

    DTIC Science & Technology

    2015-08-01

    authorized to U.S. Government agencies only. Genetic Background and Environment Influence the Effects of Mutations in pykF and Help Reveal Mechanisms...OMB control number. PLEASE DO NOT RETURN YOUR FORM TO THE ABOVE ADDRESS. University of Canterbury 20 Kirkwood Ave Ilam - ABSTRACT Genetic Background...were evolved. Differences in mutation × background interactions were found to be driven by different suites of mutations in each genetic background

  20. Genetic and Environmental Influences on Parent-Child Conflict and Child Depression Through Late Adolescence.

    PubMed

    Samek, Diana R; Wilson, Sylia; McGue, Matt; Iacono, William G

    2016-04-04

    Few studies have investigated potential gender differences in the genetic and environmental influences on the prospective associations between parent-child conflict and later depression, a notable gap given substantial gender differences in rates of depression and suggestive evidence of differences in the etiology of depression among females and males. To fill this gap, we evaluated whether the prospective relationship between parent-child conflict and major depressive disorder symptoms varied as a function of parent-child gender composition. A combined twin and adoption sample was used (53% female; 85% European ancestry), containing 1,627 adolescent sibling pairs (789 monozygotic twin pairs, 594 dizygotic/full-biological pairs, 244 genetically unrelated pairs) with assessments at two time points in adolescence (approximate ages 15 and 18). Prospective associations between parent-child conflict and subsequent adolescent depression were explained predominately through common genetic influences for mother-daughter and mother-son pairs but less so for father-daughter and father-son pairs. Results support the notion that processes of gene-environment correlation involved in the prospective associations between parent-child conflict, and later adolescent depression appear to be less relevant to father-child relationships in comparison to mother-child relationships. Notably, results did not show that parent-child conflict was more relevant to the etiology of major depressive disorder (MDD) for girls than boys; gender differences in depression do not appear to be due to differences in the associations between parent-child conflict and child depression.

  1. Influence of Concentration and Salinity on the Biodegradability of Organic Additives in Hydraulic Fracturing Fluid

    NASA Astrophysics Data System (ADS)

    Mouser, P. J.; Kekacs, D.

    2014-12-01

    One of the risks associated with the use of hydraulic fracturing technologies for energy development is the potential release of hydraulic fracturing-related fluids into surface waters or shallow aquifers. Many of the organic additives used in hydraulic fracturing fluids are individually biodegradable, but little is know on how they will attenuate within a complex organic fluid in the natural environment. We developed a synthetic hydraulic fracturing fluid based on disclosed recipes used by Marcellus shale operators to evaluate the biodegradation potential of organic additives across a concentration (25 to 200 mg/L DOC) and salinity gradient (0 to 60 g/L) similar to Marcellus shale injected fluids. In aerobic aqueous solutions, microorganisms removed 91% of bulk DOC from low SFF solutions and 57% DOC in solutions having field-used SFF concentrations within 7 days. Under high SFF concentrations, salinity in excess of 20 g/L inhibited organic compound biodegradation for several weeks, after which time the majority (57% to 75%) of DOC remained in solution. After SFF amendment, the initially biodiverse lake or sludge microbial communities were quickly dominated (>79%) by Pseudomonas spp. Approximately 20% of added carbon was converted to biomass while the remainder was respired to CO2 or other metabolites. Two alcohols, isopropanol and octanol, together accounted for 2-4% of the initial DOC, with both compounds decreasing to below detection limits within 7 days. Alcohol degradation was associated with an increase in acetone at mg/L concentrations. These data help to constrain the biodegradation potential of organic additives in hydraulic fracturing fluids and guide our understanding of the microbial communities that may contribute to attenuation in surface waters.

  2. Influence of additive effective atomic number on alpha-oxide radiolysis

    SciTech Connect

    Doroshenko, V.N.; Entinzon, I.R.; Meleshevich, A.P.

    1988-07-01

    If a monomer or polymer is irradiated in the presence of a filler or on an inorganic substrate, one has to determine how the phase boundaries affect the reaction rates in the organic components. We have restricted consideration to the approximate relation between the additional absorbed energy taken up by the monomer or oligomer f/sub ECH/(P) and P for a composite based on epichlorohydrin (ECH) on /sup 60/Co /gamma/ irradiation. We determined the polymer yield (conversion /chi/ in %) in the ECH-SiO/sub 2/ and ECH-Al/sub 2/O/sub 3/ systems containing 1-50% oxide.

  3. Influence of Temperature on Thermodynamic Properties of Methyl t-Butyl Ether (MTBE) + Gasoline Additives

    NASA Astrophysics Data System (ADS)

    Gonzalez-Olmos, R.; Iglesias, M.; Goenaga, J. M.; Resa, J. M.

    2007-08-01

    The densities and sound speeds of binary mixtures of methyl tert-butyl ether (MTBE) + (benzene, toluene, ethylbenzene, isooctane, tert-butyl alcohol) have been measured at temperatures from 288.15 to 323.15 K and at atmospheric pressure over the complete concentration range. The experimental excess volumes and deviations of isentropic compressibility were calculated. The deviation of isentropic compressibility data have been analyzed in terms of different theoretical models; adequate agreement between the experimental and predicted values is obtained. The data from this study improve the data situation related to gasoline additives and help to understand the MTBE volumetric and acoustic behavior for various chemical systems.

  4. Genetic influence on methadone treatment outcomes in patients undergoing methadone maintenance treatment for opioid addiction: a pilot study

    PubMed Central

    Samaan, Zainab; Bawor, Monica; Dennis, Brittany B; Plater, Carolyn; Varenbut, Michael; Daiter, Jeffrey; Worster, Andrew; Marsh, David C; Tan, Charlie; Desai, Dipika; Thabane, Lehana; Pare, Guillaume

    2014-01-01

    Introduction Treatment of opioid addiction with methadone is effective; however, it is known to produce interindividual variability. This may be influenced in part by genetic variants, which can increase the initial risk of developing opioid addiction as well as explain differences in response to treatment. This pilot study aimed to assess the feasibility of conducting a full-scale genetic analysis to identify genes that predict methadone treatment outcomes in this population. Methods This was a cross-sectional observational study of patients admitted to a methadone maintenance treatment program for opioid addiction. We obtained demographic and clinical characteristics in addition to blood and urine samples, for the assessment of treatment outcomes. Results The recruitment process yielded 252 patients, representing a 20% recruitment rate. We conducted genetic testing based on a 99.6% rate of provision of DNA samples. The average retention in treatment was 3.4 years, and >50% of the participants reported psychiatric and medical comorbidities. BDNF rs6265 and DRD2 rs1799978 were the common single nucleotide polymorphisms (SNPs) selected for the feasibility study. Discussion This study met our predetermined feasibility criteria; recruitment, response rates, and genetic testing were feasible; treatment duration was sufficient for follow up; and the prevalence of comorbid conditions indicated the need for reliable psychiatric and chronic pain measures. The study strengths included effective collaboration with clinics and the generalizability of sample population. Key learning points show the need for assessment of treatment outcomes on multiple domains, implementation of follow up, and the development of standardized training for the study clinical staff. PMID:25187714

  5. Estimating Genetic and Environmental Influences on Depressive Symptoms in Adolescence: Differing Effects on Higher and Lower Levels of Symptoms

    ERIC Educational Resources Information Center

    Rende, Richard; Slomkowski, Cheryl; Lloyd-Richardson, Elizabeth; Stroud, Laura; Niaura, Raymond

    2006-01-01

    We estimate the relative effect sizes of genetic and environmental influences on both higher and lower levels of depressive symptoms with attention to persistence over a 1-year period in the genetically informative subsample of adolescents participating in the National Longitudinal Study of Adolescent Health (Add Health). Shared environmental…

  6. New genetic and linguistic analyses show ancient human influence on baobab evolution and distribution in Australia.

    PubMed

    Rangan, Haripriya; Bell, Karen L; Baum, David A; Fowler, Rachael; McConvell, Patrick; Saunders, Thomas; Spronck, Stef; Kull, Christian A; Murphy, Daniel J

    2015-01-01

    This study investigates the role of human agency in the gene flow and geographical distribution of the Australian baobab, Adansonia gregorii. The genus Adansonia is a charismatic tree endemic to Africa, Madagascar, and northwest Australia that has long been valued by humans for its multiple uses. The distribution of genetic variation in baobabs in Africa has been partially attributed to human-mediated dispersal over millennia, but this relationship has never been investigated for the Australian species. We combined genetic and linguistic data to analyse geographic patterns of gene flow and movement of word-forms for A. gregorii in the Aboriginal languages of northwest Australia. Comprehensive assessment of genetic diversity showed weak geographic structure and high gene flow. Of potential dispersal vectors, humans were identified as most likely to have enabled gene flow across biogeographic barriers in northwest Australia. Genetic-linguistic analysis demonstrated congruence of gene flow patterns and directional movement of Aboriginal loanwords for A. gregorii. These findings, along with previous archaeobotanical evidence from the Late Pleistocene and Holocene, suggest that ancient humans significantly influenced the geographic distribution of Adansonia in northwest Australia.

  7. Seventy-five genetic loci influencing the human red blood cell

    PubMed Central

    van der Harst, Pim; Zhang, Weihua; Leach, Irene Mateo; Rendon, Augusto; Verweij, Niek; Sehmi, Joban; Paul, Dirk S.; Elling, Ulrich; Allayee, Hooman; Li, Xinzhong; Radhakrishnan, Aparna; Tan, Sian-Tsung; Voss, Katrin; Weichenberger, Christian X.; Albers, Cornelis A.; Al-Hussani, Abtehale; Asselbergs, Folkert W.; Ciullo, Marina; Danjou, Fabrice; Dina, Christian; Esko, Tõnu; Evans, David M.; Franke, Lude; Gögele, Martin; Hartiala, Jaana; Hersch, Micha; Holm, Hilma; Hottenga, Jouke-Jan; Kanoni, Stavroula; Kleber, Marcus E.; Lagou, Vasiliki; Langenberg, Claudia; Lopez, Lorna M.; Lyytikäinen, Leo-Pekka; Melander, Olle; Murgia, Federico; Nolte, Ilja M.; O’Reilly, Paul F.; Padmanabhan, Sandosh; Parsa, Afshin; Pirastu, Nicola; Porcu, Eleonora; Portas, Laura; Prokopenko, Inga; Ried, Janina S.; Shin, So-Youn; Tang, Clara S.; Teumer, Alexander; Traglia, Michela; Ulivi, Sheila; Westra, Harm-Jan; Yang, Jian; Zhao, Jing Hua; Anni, Franco; Abdellaoui, Abdel; Attwood, Antony; Balkau, Beverley; Bandinelli, Stefania; Bastardot, François; Benyamin, Beben; Boehm, Bernhard O.; Cookson, William O.; Das, Debashish; de Bakker, Paul I. W.; de Boer, Rudolf A.; de Geus, Eco J. C.; de Moor, Marleen H.; Dimitriou, Maria; Domingues, Francisco S.; Döring, Angela; Engström, Gunnar; Eyjolfsson, Gudmundur Ingi; Ferrucci, Luigi; Fischer, Krista; Galanello, Renzo; Garner, Stephen F.; Genser, Bernd; Gibson, Quince D.; Girotto, Giorgia; Gudbjartsson, Daniel Fannar; Harris, Sarah E.; Hartikainen, Anna-Liisa; Hastie, Claire E.; Hedblad, Bo; Illig, Thomas; Jolley, Jennifer; Kähönen, Mika; Kema, Ido P.; Kemp, John P.; Liang, Liming; Lloyd-Jones, Heather; Loos, Ruth J. F.; Meacham, Stuart; Medland, Sarah E.; Meisinger, Christa; Memari, Yasin; Mihailov, Evelin; Miller, Kathy; Moffatt, Miriam F.; Nauck, Matthias; Novatchkova, Maria; Nutile, Teresa; Olafsson, Isleifur; Onundarson, Pall T.; Parracciani, Debora; Penninx, Brenda W.; Perseu, Lucia; Piga, Antonio; Pistis, Giorgio; Pouta, Anneli; Puc, Ursula; Raitakari, Olli; Ring, Susan M.; Robino, Antonietta; Ruggiero, Daniela; Ruokonen, Aimo; Saint-Pierre, Aude; Sala, Cinzia; Salumets, Andres; Sambrook, Jennifer; Schepers, Hein; Schmidt, Carsten Oliver; Silljé, Herman H. W.; Sladek, Rob; Smit, Johannes H.; Starr, John M.; Stephens, Jonathan; Sulem, Patrick; Tanaka, Toshiko; Thorsteinsdottir, Unnur; Tragante, Vinicius; van Gilst, Wiek H.; van Pelt, L. Joost; van Veldhuisen, Dirk J.; Völker, Uwe; Whitfield, John B.; Willemsen, Gonneke; Winkelmann, Bernhard R.; Wirnsberger, Gerald; Algra, Ale; Cucca, Francesco; d’Adamo, Adamo Pio; Danesh, John; Deary, Ian J.; Dominiczak, Anna F.; Elliott, Paul; Fortina, Paolo; Froguel, Philippe; Gasparini, Paolo; Greinacher, Andreas; Hazen, Stanley L.; Jarvelin, Marjo-Riitta; Khaw, Kay Tee; Lehtimäki, Terho; Maerz, Winfried; Martin, Nicholas G.; Metspalu, Andres; Mitchell, Braxton D.; Montgomery, Grant W.; Moore, Carmel; Navis, Gerjan; Pirastu, Mario; Pramstaller, Peter P.; Ramirez-Solis, Ramiro; Schadt, Eric; Scott, James; Shuldiner, Alan R.; Smith, George Davey; Smith, J. Gustav; Snieder, Harold; Sorice, Rossella; Spector, Tim D.; Stefansson, Kari; Stumvoll, Michael; Wilson Tang, W. H.; Toniolo, Daniela; Tönjes, Anke; Visscher, Peter M.; Vollenweider, Peter; Wareham, Nicholas J.; Wolffenbuttel, Bruce H. R.; Boomsma, Dorret I.; Beckmann, Jacques S.; Dedoussis, George V.; Deloukas, Panos; Ferreira, Manuel A.; Sanna, Serena; Uda, Manuela; Hicks, Andrew A.; Penninger, Josef Martin; Gieger, Christian; Kooner, Jaspal S.; Ouwehand, Willem H.; Soranzo, Nicole; Chambers, John C

    2013-01-01

    Anaemia is a chief determinant of globalill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P <10−8, which together explain 4–9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have haematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function. PMID:23222517

  8. New Genetic and Linguistic Analyses Show Ancient Human Influence on Baobab Evolution and Distribution in Australia

    PubMed Central

    Rangan, Haripriya; Bell, Karen L.; Baum, David A.; Fowler, Rachael; McConvell, Patrick; Saunders, Thomas; Spronck, Stef; Kull, Christian A.; Murphy, Daniel J.

    2015-01-01

    This study investigates the role of human agency in the gene flow and geographical distribution of the Australian baobab, Adansonia gregorii. The genus Adansonia is a charismatic tree endemic to Africa, Madagascar, and northwest Australia that has long been valued by humans for its multiple uses. The distribution of genetic variation in baobabs in Africa has been partially attributed to human-mediated dispersal over millennia, but this relationship has never been investigated for the Australian species. We combined genetic and linguistic data to analyse geographic patterns of gene flow and movement of word-forms for A. gregorii in the Aboriginal languages of northwest Australia. Comprehensive assessment of genetic diversity showed weak geographic structure and high gene flow. Of potential dispersal vectors, humans were identified as most likely to have enabled gene flow across biogeographic barriers in northwest Australia. Genetic-linguistic analysis demonstrated congruence of gene flow patterns and directional movement of Aboriginal loanwords for A. gregorii. These findings, along with previous archaeobotanical evidence from the Late Pleistocene and Holocene, suggest that ancient humans significantly influenced the geographic distribution of Adansonia in northwest Australia. PMID:25830225

  9. Seventy-five genetic loci influencing the human red blood cell.

    PubMed

    van der Harst, Pim; Zhang, Weihua; Mateo Leach, Irene; Rendon, Augusto; Verweij, Niek; Sehmi, Joban; Paul, Dirk S; Elling, Ulrich; Allayee, Hooman; Li, Xinzhong; Radhakrishnan, Aparna; Tan, Sian-Tsung; Voss, Katrin; Weichenberger, Christian X; Albers, Cornelis A; Al-Hussani, Abtehale; Asselbergs, Folkert W; Ciullo, Marina; Danjou, Fabrice; Dina, Christian; Esko, Tõnu; Evans, David M; Franke, Lude; Gögele, Martin; Hartiala, Jaana; Hersch, Micha; Holm, Hilma; Hottenga, Jouke-Jan; Kanoni, Stavroula; Kleber, Marcus E; Lagou, Vasiliki; Langenberg, Claudia; Lopez, Lorna M; Lyytikäinen, Leo-Pekka; Melander, Olle; Murgia, Federico; Nolte, Ilja M; O'Reilly, Paul F; Padmanabhan, Sandosh; Parsa, Afshin; Pirastu, Nicola; Porcu, Eleonora; Portas, Laura; Prokopenko, Inga; Ried, Janina S; Shin, So-Youn; Tang, Clara S; Teumer, Alexander; Traglia, Michela; Ulivi, Sheila; Westra, Harm-Jan; Yang, Jian; Zhao, Jing Hua; Anni, Franco; Abdellaoui, Abdel; Attwood, Antony; Balkau, Beverley; Bandinelli, Stefania; Bastardot, François; Benyamin, Beben; Boehm, Bernhard O; Cookson, William O; Das, Debashish; de Bakker, Paul I W; de Boer, Rudolf A; de Geus, Eco J C; de Moor, Marleen H; Dimitriou, Maria; Domingues, Francisco S; Döring, Angela; Engström, Gunnar; Eyjolfsson, Gudmundur Ingi; Ferrucci, Luigi; Fischer, Krista; Galanello, Renzo; Garner, Stephen F; Genser, Bernd; Gibson, Quince D; Girotto, Giorgia; Gudbjartsson, Daniel Fannar; Harris, Sarah E; Hartikainen, Anna-Liisa; Hastie, Claire E; Hedblad, Bo; Illig, Thomas; Jolley, Jennifer; Kähönen, Mika; Kema, Ido P; Kemp, John P; Liang, Liming; Lloyd-Jones, Heather; Loos, Ruth J F; Meacham, Stuart; Medland, Sarah E; Meisinger, Christa; Memari, Yasin; Mihailov, Evelin; Miller, Kathy; Moffatt, Miriam F; Nauck, Matthias; Novatchkova, Maria; Nutile, Teresa; Olafsson, Isleifur; Onundarson, Pall T; Parracciani, Debora; Penninx, Brenda W; Perseu, Lucia; Piga, Antonio; Pistis, Giorgio; Pouta, Anneli; Puc, Ursula; Raitakari, Olli; Ring, Susan M; Robino, Antonietta; Ruggiero, Daniela; Ruokonen, Aimo; Saint-Pierre, Aude; Sala, Cinzia; Salumets, Andres; Sambrook, Jennifer; Schepers, Hein; Schmidt, Carsten Oliver; Silljé, Herman H W; Sladek, Rob; Smit, Johannes H; Starr, John M; Stephens, Jonathan; Sulem, Patrick; Tanaka, Toshiko; Thorsteinsdottir, Unnur; Tragante, Vinicius; van Gilst, Wiek H; van Pelt, L Joost; van Veldhuisen, Dirk J; Völker, Uwe; Whitfield, John B; Willemsen, Gonneke; Winkelmann, Bernhard R; Wirnsberger, Gerald; Algra, Ale; Cucca, Francesco; d'Adamo, Adamo Pio; Danesh, John; Deary, Ian J; Dominiczak, Anna F; Elliott, Paul; Fortina, Paolo; Froguel, Philippe; Gasparini, Paolo; Greinacher, Andreas; Hazen, Stanley L; Jarvelin, Marjo-Riitta; Khaw, Kay Tee; Lehtimäki, Terho; Maerz, Winfried; Martin, Nicholas G; Metspalu, Andres; Mitchell, Braxton D; Montgomery, Grant W; Moore, Carmel; Navis, Gerjan; Pirastu, Mario; Pramstaller, Peter P; Ramirez-Solis, Ramiro; Schadt, Eric; Scott, James; Shuldiner, Alan R; Smith, George Davey; Smith, J Gustav; Snieder, Harold; Sorice, Rossella; Spector, Tim D; Stefansson, Kari; Stumvoll, Michael; Tang, W H Wilson; Toniolo, Daniela; Tönjes, Anke; Visscher, Peter M; Vollenweider, Peter; Wareham, Nicholas J; Wolffenbuttel, Bruce H R; Boomsma, Dorret I; Beckmann, Jacques S; Dedoussis, George V; Deloukas, Panos; Ferreira, Manuel A; Sanna, Serena; Uda, Manuela; Hicks, Andrew A; Penninger, Josef Martin; Gieger, Christian; Kooner, Jaspal S; Ouwehand, Willem H; Soranzo, Nicole; Chambers, John C

    2012-12-20

    Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P < 10(-8), which together explain 4-9% of the phenotypic variance per trait. Using expression quantitative trait loci and bioinformatic strategies, we identify 121 candidate genes enriched in functions relevant to red blood cell biology. The candidate genes are expressed preferentially in red blood cell precursors, and 43 have haematopoietic phenotypes in Mus musculus or Drosophila melanogaster. Through open-chromatin and coding-variant analyses we identify potential causal genetic variants at 41 loci. Our findings provide extensive new insights into genetic mechanisms and biological pathways controlling red blood cell formation and function.

  10. Influence of crushing and additive irradiation procedures on EPR dosimetry of tooth enamel

    SciTech Connect

    Shalom, S.V.; Chumak, V.V.; Haskell, E.H.; Hayes, R.B.; Kenner, G.H.

    1996-01-01

    The effect of the crushing and additive dose procedures used in EPR dosimetry of enamel was studied on the signals with g-factors of 2. 0045 and g, = 2.0018, g. = 1.9975. Eight fractions, ranging in size from <75 micrometers to 2 mm, were prepared from one tooth. Two cases were investigated: crushing of a non-irradiated sample and of a sample previously irradiated (6 Gy from `Co gamma ray source). In the non-irradiated study, the intensity of the native signal at 2.0045 in by circa 1.75 times as the grain size decreased from maximum to minimum. A small in radiation sensitivity (< 8%) was also observed with decreasing grain size. In the irradiated samples, crushing resulted in slight variations of reconstructed doses from expected values, but the worst possible case (grain sizes < 75 micron) showed that additional errors were less than 10%. The radiation sensitivity of enamel measured immediately after exposure is underestimated. It increases by about 15% in the first month. Based on the decomposition of the observed spectra, a new interpretation of transient signals 1108 is proposed which explains the above phenomena. Recommendations about how to use this interpretation in retrospective EPR dosimetry are given.

  11. Influences of biochar addition on vegetable soil nitrogen balance and pH buffering capacity

    NASA Astrophysics Data System (ADS)

    Yu, Y.; Odindo, AO; Xue, L.; Yang, L.

    2016-08-01

    Leaching is a major path for chemical nitrogen fertilizer loss from in vegetable soil, which would destroy soil pH buffering capacity soil and result in acidification. It has been a common phenomenon in Tai Lake Region, China. However, few study focused on the change soil pH buffering capacity, especially the effect of soil amendment on pH buffering capacity. In this study, a pot experiment was conducted to research the effects of biochar addition to a vegetable soil on nitrogen leaching and pH buffering capacity with pakchoi (B.chinensis L.) growth as the experimental crop. The results showed that biochar could significantly increase the pakchoi nitrogen utilization efficiency, decrease 48%-65% nitrogen loss from leaching under the urea continuous applied condition. Biochar also could effectively maintain the content of soil organic matter and base cations. Therefore, it rose up soil pH buffering capacity by 9.4%-36.8% and significantly slowed down acidification rate. It was suggested that 1%-2% addition ratio was recommended from this study when used as similar soil condition.

  12. Influence of additives on the structure of surfactant-free microemulsions.

    PubMed

    Marcus, J; Touraud, D; Prévost, S; Diat, O; Zemb, T; Kunz, W

    2015-12-28

    We study the addition of electrolytes to surfactant-free microemulsions in the domain where polydisperse pre-Ouzo aggregates are present. As in previous studies, the microemulsion is the ternary system water/ethanol/1-octanol, where ethanol acts as co-solvent. Addition of electrolytes modifies the static X-ray and neutron scattering, and dynamic light scattering patterns, as well as the position of the miscibility gap, where spontaneous emulsification occurs upon dilution with water. All observations can be rationalized considering that electrolytes are either "salting out" the ethanol, which is the main component of the interface stabilizing the aggregates, or producing charge separation via the antagonistic ion effect discovered by Onuki et al. Amphiphilic electrolytes, such as sodium dodecylsulfate or sodium dietheylhexylphosphate, induce a gradual transition towards monodisperse ionic micelles with their characteristic broad scattering "peak". In these micelles the ethanol plays then the role of a cosurfactant. Dynamic light scattering can only be understood by combination of fluctuations of aggregate concentration due to the vicinity of a critical point and in-out fluctuations of ethanol.

  13. Ensilage characteristics of three tropical grasses as influenced by stage of growth and addition of molasses.

    PubMed

    Tjandraatmadja, M; Norton, B W; Mac Rae, I C

    1994-01-01

    When molasses was added during ensilage of three tropical grasses [hamil grass (Panicum maximum cv. Hamil), pangola grass (Digitaria decumbens) and setaria (Setaria sphacelata cv. Kazungula)] the final pH, concentration of fermentation acids (except lactic acid) and NH3-N content were all similar after 100 days of incubation. Pangola grass silage had significantly higher lactic acid content (66 g/kg dry matter) than the other two. Adding either 4 or 8% (w/w) molasses reduced NH3-N, volatile fatty acid content and pH but increased lactic acid content in the final silages. Numbers of lactic acid bacteria remained approximately constant during the course of the fermentation, although large differences were noted in the species composition of the populations. At the time of ensiling, only Pediococcus spp. and Leuconostoc spp. were detected. By 5 days, the homo-fermentative population, notably Lactobacillus plantarum, dominated (43%) and remained dominant. Hetero-fermentative rods were only detected in the 100-day silage, where they represented 29% of the strains isolated. Homo-fermenters were more abundant in pangola (60%) and setaria (47%) silages than hamil (27%) silages. Homo-fermenter populations were lowest in the 12-week forage. Molasses additions increased homo-fermenter populations. Pangola grass gave the best quality silage but, since the water-soluble carbohydrate content in the grasses was insufficient to promote a strong lactic fermentation, the addition of 20 to 30 kg molasses/tonne should achieve satisfactory preservation.

  14. Influence of supplemental heat addition on performance of pilot-scale bioreactor landfills.

    PubMed

    Abdallah, Mohamed; Kennedy, Kevin; Narbaitz, Roberto; Warith, Mostafa; Sartaj, Majid

    2014-02-01

    Implementation of supplemental heat addition as a means of improving bioreactor landfill performance was investigated. The experimental work was conducted with two pilot-scale bioreactor setups (control cell and heated cell) operated for 280 days. Supplemental heat was introduced by recirculating leachate heated up to 35 °C compared to the control which used similar quantities of leachate at room temperature (21 ± 1 °C). The temporal and spatial effects of recirculating heated leachate on the landfill internal temperature were determined, and performance was assessed in terms of leachate parameters and biogas production. Recirculation of heated leachate helped establish balanced anaerobic microbial consortia that led to earlier (70 days) and greater (1.4-fold) organic matter degradation rates, as well as threefold higher methane production compared to the non-heated control. Despite the significant enhancements in performance resulting from supplemental heat addition, heated leachate recirculation did not significantly impact waste temperatures, and the effects were mainly restricted to short periods after recirculation and mostly at the upper layers of the waste. These findings suggest that improvements in bioreactor landfill performance may be achieved without increasing the temperature of the whole in-place waste, but rather more economically by raising the temperature at the leachate/waste interface which is also exposed to the maximum moisture levels within the waste matrix.

  15. The crystallinity of calcium phosphate powders influenced by the conditions of neutralized procedure with citric acid additions

    SciTech Connect

    Li Chengfeng

    2009-05-06

    Calcium phosphate powders with nano-sized crystallinity were synthesized by neutralization using calcium hydroxide and orthophosphoric acid with the assistance of citric acid. The influence of processing parameters, such as free or additive citric acid, synthetic temperature and ripening time, on the crystallinity of hydroxyapatite were investigated. The results of X-ray diffraction and microstructure observations showed that the crystallinity and morphology of nano-sized hydroxyapatite particles were influenced by the presence or absence of citric acid. It was found that the crystallinities and crystallite sizes of hydroxyapatite powders prepared with the additive citric acid increased with increasing synthetic temperature and ripening time. Especially, the crystallinities of (h k 0) planes were raised and more homogeneously grown particles were obtained with increasing synthetic temperature.

  16. Influence of an alloy addition on the physical and clinical behaviour of glass ionomer cement

    NASA Astrophysics Data System (ADS)

    Abour, Mohamed Abour Bashir

    These in vitro studies compared the various properties of an experimental high powder liquid content glass ionomer cement (EXPT) with those of a metal addition GIC (Hi-Dense) and disperse phase amalgam (Dispersalloy). Bi-axial, four point flexural and compressive tests were used to evaluate strength. Six groups of ten specimens were constructed for each test for each material and allowed to set in an oven at 37°C for 60 minutes. Specimens were stored in distilled water at 37°C until testing at one day, one week, one, three, six months and year. It was found that the strength of Hi-Dense increased and then maintained over extended time, whereas the strength of EXPT showed a declined at 3 months. The bond strengths of the materials to both enamel and dentine were also evaluated. Ten groups of ten teeth, five for each surface for each glass ionomer materials, were prepared. Teeth were aligned leaving the enamel and dentine surfaces exposed. The mixed material was condensed into a cylinder placed on the appropriate surface. These specimens were also stored in distilled water at 37°C. It was found that Hi-Dense had a higher bond strength to enamel that increased with time. The bond strength to dentine was maintained over the test period. The erosion rate of the materials was evaluated using the lactic acid erosion test. Three groups of six specimens for each material were constructed and tested after one hour, one day and at six months. Each specimen was subjected to an impinging jet of lactic acid solution. The erosion rate was determined by weight loss and dimensional change. It was found that Hi-Dense had a high erosion resistance which was slightly better than the experimental material. The microleakage, around restorations prepared, using the glass ionomer materials, was evaluated after cyclical loading the restoration-tooth complex. It was found that there was less leakage around Hi-Dense than EXPT at both the cervical and occlusal margins. In a clinical

  17. Factors influencing the performance of English as an Additional Language nursing students: instructors' perspectives.

    PubMed

    Donnelly, Tam Truong; McKiel, Elaine; Hwang, Jihye

    2009-09-01

    The increasing number of immigrants in Canada has led to more nursing students for whom English is an additional language (EAL). Limited language skills, cultural differences, and a lack of support can pose special challenges for these students and the instructors who teach them. Using a qualitative research methodology, in-depth interviews with fourteen EAL nursing students and two focus group interviews with nine instructors were conducted. In this paper, the instructors' perspectives are presented. Data acquired from the instructors suggest that the challenges experienced by EAL students and instructors reside in a lack of awareness and support at the institutional and structural levels rather than solely on capacities of individual EAL students or instructors. From this study, identification of supportive activities for nurse educators and education sector decision makers emerged.

  18. Influence of Radiation and Multivalent Cation Additions on Phase Separation and Crystallization of Glass

    SciTech Connect

    Michael C. Weinberg; Donald R. Uhlmann; Gary L. Smith

    2002-08-09

    This report presents results of: (1) measurement of valence state ratios of iron in glass, and (2) a study of the effect of iron redox ratio on phase separation behavior in a glass. The redox ratio of iron in two sodium silicate (NS) glasses has been determined using a colorimetric method, Moessbauer analysis, and optical absorption. The experimental procedures were described in a previous report. We found that these three methods gave excellent agreement for the values of the Fe++/Fe+++ (redox ratio) in the glasses. Also, using the results of the colorimetric analysis we were able to find the extinction coefficients for the18.56% NS and the 13% NS glasses. We have utilized the optical absorption data that was taken for purposes of determining redox ratios to provide glass structural information. In particular, it has been suggested that the band centered near 14,500 cm-1 is indicative of Fe2+ - O2- - Fe3+ formation. In addition, the relative band intensities at 10,000 cm-1 and 4,800 cm-1 could give us information as to the environment around the Fe2+ responsible for the 4,800 cm-1 band. The Moessbauer data will provide supporting structural information. For example, the relative number of clustered and free ferric ions can be computed from the ratio of areas under the doublet and sextet in the liquid He spectra. Also, the change in shift parameter with redox ratio will provide an indication of whether there is an increase or decrease in tetrahedral site symmetry about both ferrous and ferric ions. Finally, the quadrupole splitting parameter provides information regarding the site symmetries about the Fe++ and Fe+++. Currently, we are analyzing the spectral data for these purposes. The Moessbauer work was done in conjunction with colleagues at PNNL, and a manuscript is currently in preparation. The effect of oxidation state of iron on the phase separation of xNa2O {center_dot}(100-x)SiO2 glasses, x = 18.56 and 13, containing 0.5 mole % iron oxide was studied. The

  19. The influence of landmark salience in a navigation task: an additive effect between its components.

    PubMed

    Chamizo, V D; Rodrigo, T; Peris, J M; Grau, M

    2006-07-01

    In 2 experiments, rats were trained in a Morris pool to find a hidden platform in the presence of 1 landmark. After acquisition, the rats were tested without the platform. Experiment 1 tested whether the size of a landmark and its relative distance from the platform are additive effects. On test, the rats' best performance was with a near and big landmark; intermediate performance was with either a near and small landmark or a far and big one; and the worst performance was with a far and small landmark. The results of Experiment 2 suggested that the different distances from the goal of the 2 landmarks might not be sufficient to explain the previous results.

  20. Influence of biochar addition on the humic substances of composting manures.

    PubMed

    Jindo, Keiji; Sonoki, Tomonori; Matsumoto, Kazuhiro; Canellas, Luciano; Roig, Asunción; Sanchez-Monedero, Miguel A

    2016-03-01

    Application of biochar (10% v/v) to a manure composting matrix was investigated to evaluate its effect on the chemical composition of humic substances during the composting process. The characteristics of the humic acid (HA) and fulvic acid (FA) fractions were analyzed in compost mixtures originating from two different manures (poultry manure (PM) and cow manure (CM)). The C contents of HA and FA from the manure compost/biochar blends (PM+B and CM+B) were higher than those from PM and CM, with an enhanced recalcitrant fraction, as determined by thermogravimetric analysis. Spectroscopic analysis showed that enrichment of aromatic-C and carboxylic-C occurred in the FA fractions of PM+B and CM+B to a greater extent than in PM and CM. Biochar addition into the composting mixture improved the final compost quality, especially for the light humified fraction (FA).

  1. Additive manufactured polymeric 3D scaffolds with tailored surface topography influence mesenchymal stromal cells activity.

    PubMed

    Neves, Sara C; Mota, Carlos; Longoni, Alessia; Barrias, Cristina C; Granja, Pedro L; Moroni, Lorenzo

    2016-05-24

    Additive manufactured three-dimensional (3D) scaffolds with tailored surface topography constitute a clear advantage in tissue regeneration strategies to steer cell behavior. 3D fibrous scaffolds of poly(ethylene oxide terephthalate)/poly(butylene terephthalate) block copolymer presenting different fiber surface features were successfully fabricated by additive manufacturing combined with wet-spinning, in a single step, without any post-processing. The optimization of the processing parameters, mainly driven by different solvent/non-solvent combinations, led to four distinct scaffold types, with average surface roughness values ranging from 0.071 ± 0.012 μm to 1.950 ± 0.553 μm, average pore sizes in the x- and y-axis between 351.1 ± 33.6 μm and 396.1 ± 32.3 μm, in the z-axis between 36.5 ± 5.3 μm and 70.7 ± 8.8 μm, average fiber diameters between 69.4 ± 6.1 μm and 99.0 ± 9.4 μm, and porosity values ranging from 60.2 ± 0.8% to 71.7 ± 2.6%. Human mesenchymal stromal cells (hMSCs) cultured on these scaffolds adhered, proliferated, and produced endogenous extracellular matrix. The effect of surface roughness and topography on hMSCs differentiation was more evident for cells seeded at lower density, where the percentage of cells in direct contact with the surface was higher compared to more densely seeded scaffolds. Under osteogenic conditions, lower surface roughness values (0.227 ± 0.035 μm) had a synergistic effect on hMSCs behavior, while chondrogenesis was favored on rougher surfaces (1.950 ± 0.553 μm).

  2. Breeding site selection by coho salmon (Oncorhynchus kisutch) in relation to large wood additions and factors that influence reproductive success

    USGS Publications Warehouse

    Clark, Steven M.; Dunham, Jason B.; McEnroe, Jeffery R.; Lightcap, Scott W.

    2014-01-01

    The fitness of female Pacific salmon (Oncorhynchus spp.) with respect to breeding behavior can be partitioned into at least four fitness components: survival to reproduction, competition for breeding sites, success of egg incubation, and suitability of the local environment near breeding sites for early rearing of juveniles. We evaluated the relative influences of habitat features linked to these fitness components with respect to selection of breeding sites by coho salmon (Oncorhynchus kisutch). We also evaluated associations between breeding site selection and additions of large wood, as the latter were introduced into the study system as a means of restoring habitat conditions to benefit coho salmon. We used a model selection approach to organize specific habitat features into groupings reflecting fitness components and influences of large wood. Results of this work suggest that female coho salmon likely select breeding sites based on a wide range of habitat features linked to all four hypothesized fitness components. More specifically, model parameter estimates indicated that breeding site selection was most strongly influenced by proximity to pool-tail crests and deeper water (mean and maximum depths). Linkages between large wood and breeding site selection were less clear. Overall, our findings suggest that breeding site selection by coho salmon is influenced by a suite of fitness components in addition to the egg incubation environment, which has been the emphasis of much work in the past.

  3. Genetic and environmental influences on sexual orientation and its correlates in an Australian twin sample.

    PubMed

    Bailey, J M; Dunne, M P; Martin, N G

    2000-03-01

    We recruited twins systematically from the Australian Twin Registry and assessed their sexual orientation and 2 related traits: childhood gender nonconformity and continuous gender identity. Men and women differed in their distributions of sexual orientation, with women more likely to have slight-to-moderate degrees of homosexual attraction, and men more likely to have high degrees of homosexual attraction. Twin concordances for nonheterosexual orientation were lower than in prior studies. Univariate analyses showed that familial factors were important for all traits, but were less successful in distinguishing genetic from shared environmental influences. Only childhood gender nonconformity was significantly heritable for both men and women. Multivariate analyses suggested that the causal architecture differed between men and women, and, for women, provided significant evidence for the importance of genetic factors to the traits' covariation.

  4. Influence of addition of Si in FeAl alloys: Theory

    NASA Astrophysics Data System (ADS)

    Apiñaniz, E.; Legarra, E.; Plazaola, F.; Garitaonandia, J. S.

    The magnetic behaviour of Fe-based magnetic systems has been studied theoretically and experimentally for many years [E.P. Wohlfath, K.H.J. Buschow, Handbook of Ferromagnetic Materials, vol. 4, North-Holland Elsevier Science Publishers, Amsterdam, New York, Oxford, Tokyo, 1988 (Chapter 1)]. Starting with Al dissolved in Fe, the first stable structure is the D03 cubic structure and it exists over the range 23-37 at% Al. In this range these alloys present interesting magnetic properties. The other stable compound existing over a wide range of composition is FeAl which is also cubic, with the B2 structure (CsCl), and it exists over the range 37-50 at% Al. On the other hand, the FeAlSi alloys show the D03 structure, but do not show the B2 structure. The effect of Si in these alloys is double; on the one hand, it contributes to the decrease of the lattice parameter which, as reported by Nogues et al. [Phys. Rev. B 74 (2006) 024407], has a major influence on the magnetism and, on the other hand, having one more p electron than the Al atom, it promotes the charge transfer from Si to Fe atoms, as reported by Legarra et al. [Hyperfine Interact. 169 (2006) 1217-1222]. In this work, we perform ab-initio electronic calculations by means of tight binding linear muffin-tin orbital (TBLMTO) and Vienna Ab-initio Simulation Package (VASP) in order to study the magnetic contribution of Si/Al substitution in the FeAl alloys.

  5. Genetic influences on brain asymmetry: a DTI study of 374 twins and siblings.

    PubMed

    Jahanshad, Neda; Lee, Agatha D; Barysheva, Marina; McMahon, Katie L; de Zubicaray, Greig I; Martin, Nicholas G; Wright, Margaret J; Toga, Arthur W; Thompson, Paul M

    2010-08-15

    Brain asymmetry, or the structural and functional specialization of each brain hemisphere, has fascinated neuroscientists for over a century. Even so, genetic and environmental factors that influence brain asymmetry are largely unknown. Diffusion tensor imaging (DTI) now allows asymmetry to be studied at a microscopic scale by examining differences in fiber characteristics across hemispheres rather than differences in structure shapes and volumes. Here we analyzed 4Tesla DTI scans from 374 healthy adults, including 60 monozygotic twin pairs, 45 same-sex dizygotic pairs, and 164 mixed-sex DZ twins and their siblings; mean age: 24.4years+/-1.9 SD). All DTI scans were nonlinearly aligned to a geometrically-symmetric, population-based image template. We computed voxel-wise maps of significant asymmetries (left/right differences) for common diffusion measures that reflect fiber integrity (fractional and geodesic anisotropy; FA, GA and mean diffusivity, MD). In quantitative genetic models computed from all same-sex twin pairs (N=210 subjects), genetic factors accounted for 33% of the variance in asymmetry for the inferior fronto-occipital fasciculus, 37% for the anterior thalamic radiation, and 20% for the forceps major and uncinate fasciculus (all L>R). Shared environmental factors accounted for around 15% of the variance in asymmetry for the cortico-spinal tract (R>L) and about 10% for the forceps minor (L>R). Sex differences in asymmetry (men>women) were significant, and were greatest in regions with prominent FA asymmetries. These maps identify heritable DTI-derived features, and may empower genome-wide searches for genetic polymorphisms that influence brain asymmetry.

  6. Influence of propane additives on the detonation characteristics of H2-air mixtures

    NASA Astrophysics Data System (ADS)

    Cheng, Guanbing; Bauer, Pascal; Zitoun, Ratiba

    2014-03-01

    Hydrogen is more and more considered as a potential fuel for propulsion applications. However, due to its low ignition energy and wide flammability limits, H2-air mixtures raise a concern in terms of safety. This aspect can be partly solved by adding an alkane to these mixtures, which plays the role of an inhibitor. The present paper provides data on such binary fuel-air mixtures where various amounts of propane are added to hydrogen. The behavior of the corresponding mixtures, in terms of detonation characteristics and other fundamental properties, such as the cell size of the detonation front and induction delay, are presented and discussed for a series of equivalence ratios and propane addition. The experimental detonation velocity is in good agreement with calculated theoretical Chapman-Jouguet values. Based on soot tracks records, the cell size λ is measured, whereas the induction length L i is derived from data using a GRI-Mech kinetic mechanism. These data allow providing a value of the coefficient K = λ/L i .

  7. Influence of the heterogeneous reaction HCl + HOCl on an ozone hole model with hydrocarbon additions

    NASA Astrophysics Data System (ADS)

    Elliott, Scott; Cicerone, Ralph J.; Turco, Richard P.; Drdla, Katja; Tabazadeh, Azadeh

    1994-02-01

    Injection of ethane or propane has been suggested as a means for reducing ozone loss within the Antarctic vortex because alkanes can convert active chlorine radicals into hydrochloric acid. In kinetic models of vortex chemistry including as heterogeneous processes only the hydrolysis and HCl reactions of ClONO2 and N2O5, parts per billion by volume levels of the light alkanes counteract ozone depletion by sequestering chlorine atoms. Introduction of the surface reaction of HCl with HOCl causes ethane to deepen baseline ozone holes and generally works to impede any mitigation by hydrocarbons. The increased depletion occurs because HCl + HOCl can be driven by HOx radicals released during organic oxidation. Following initial hydrogen abstraction by chlorine, alkane breakdown leads to a net hydrochloric acid activation as the remaining hydrogen atoms enter the photochemical system. Lowering the rate constant for reactions of organic peroxy radicals with ClO to 10-13 cm3 molecule-1 s-1 does not alter results, and the major conclusions are insensitive to the timing of the ethane additions. Ignoring the organic peroxy radical plus ClO reactions entirely restores remediation capabilities by allowing HOx removal independent of HCl. Remediation also returns if early evaporation of polar stratospheric clouds leaves hydrogen atoms trapped in aldehyde intermediates, but real ozone losses are small in such cases.

  8. Influence of Mo addition on dielectric properties of AlN ceramic matrix composites

    NASA Astrophysics Data System (ADS)

    Zhang, Yan; Yang, Zhimin; Ma, Huina; Du, Jun

    2009-03-01

    AlN-Mo composite ceramics were prepared by spark plasma sintering (SPS) with CaF2 as sintering aids. Effect of Mo addition on the thermal conductivity and dielectric properties of the composite ceramics had been studied. The results show that the room temperature thermal conductivity increases with increasing the content of Mo, and the value begins to decrease slightly when the Mo concentration exceeds 20 vol. %. Analyses indicate that the key factors to dielectric properties are the metal phase concentration and the microstructure of Mo particles. 1 vol. % Ni has been added into the composite ceramics to change the distribution of the Mo phase. The elongated shape particles which link with each other have a tendency to acquire rounded forms which are thermodynamically more stable. Consequently, the dielectric constant and loss of the composite ceramics could be adjusted and the material becomes an electrical conductor in the case of Mo volume fraction of more than 23%. Furthermore, the dielectric properties could be improved to a large extent by transforming the microstructure of the metal particles when the concentration of Mo is fixed.

  9. How does tissue regeneration influence the mechanical behavior of additively manufactured porous biomaterials?

    PubMed

    Hedayati, R; Janbaz, S; Sadighi, M; Mohammadi-Aghdam, M; Zadpoor, A A

    2017-01-01

    Although the initial mechanical properties of additively manufactured porous biomaterials are intensively studied during the last few years, almost no information is available regarding the evolution of the mechanical properties of implant-bone complex as the tissue regeneration progresses. In this paper, we studied the effects of tissue regeneration on the static and fatigue behavior of selective laser melted porous titanium structures with three different porosities (i.e. 77, 81, and 85%). The porous structures were filled with four different polymeric materials with mechanical properties in the range of those observed for de novo bone (0.7GPa

  10. Causes of comorbidity: pleiotropy or causality? Shared genetic and environmental influences on migraine and neuroticism.

    PubMed

    Ligthart, Lannie; Boomsma, Dorret I

    2012-04-01

    Comorbidity - the clustered occurrence of two traits or disorders - may be studied in genetically informative designs such as the classical twin study, to test whether genetic and/or environmental factors underlying the two disorders are correlated. When a genetic correlation is found, this can be explained by several mechanisms, including pleiotropy (the same genes influencing multiple traits), and causality (one trait causing the other). With a cotwin control design, it can be investigated which scenario is most plausible. In this design, monozygotic twin pairs discordant for the first trait (i.e., one twin is affected, the other is not) are compared in terms of their risk for the second trait: under a causal model, only the twins affected for the first trait will be at increased risk for the second trait. Under genetic pleiotropy, this risk will be increased in both twins because they share the same risk genes. We first discuss the cotwin control design and then illustrate its application with data on migraine and neuroticism that were collected in 5,200 Dutch twins, including 1,648 complete twin pairs (981 monozygotic and 667 dizygotic pairs). There was a significant association between migraine and neuroticism, which could be attributed to genetic and environmental correlations (rG = .27 and rE = .19). In monozygotic and dizygotic twin pairs discordant for neuroticism, the risk of migraine was significantly higher in the twins with a high neuroticism score. This pattern of results is consistent with a causal relationship, suggesting that neuroticism increases the risk of migraine.

  11. Geography has more influence than language on maternal genetic structure of various northeastern Thai ethnicities.

    PubMed

    Kutanan, Wibhu; Ghirotto, Silvia; Bertorelle, Giorgio; Srithawong, Suparat; Srithongdaeng, Kanokpohn; Pontham, Nattapon; Kangwanpong, Daoroong

    2014-09-01

    Several literatures have shown the influence of geographic and linguistic factors in shaping genetic variation patterns, but their relative impact, if any, in the very heterogeneous northeastern region of Thailand has not yet been studied. This area, called Isan, is geographically structured in two wide basins, the Sakon Nakorn Basin and the Korat Basin, serving today as home to diverse ethnicities encompassing two different linguistic families, that is, the Austro-Asiatic; Suay (Kui), Mon, Chaobon (Nyahkur), So and Khmer, and the Tai-Kadai; Saek, Nyaw, Phu Tai, Kaleung and Lao Isan. In this study, we evaluated the relative role of geographic distance and barriers as well as linguistic differences as possible causes affecting the maternal genetic distances among northeastern Thai ethnicities. A 596-bp segment of the hypervariable region I mitochondrial DNA was utilized to elucidate the genetic structure and biological affinity from 433 individuals. Different statistical analyses agreed in suggesting that most ethnic groups in the Sakon Nakorn Basin are closely related. Mantel test revealed that genetic distances were highly associated to geographic (r = 0.445, P<0.01) but not to linguistic (r = 0.001, P>0.01) distances. Three evolutionary models were compared by Approximate Bayesian Computation. The posterior probability of the scenario, which assumed an initial population divergence possibly related to reduced gene flow among basins, was equal or higher than 0.87. All analyses exhibited concordant results supporting that geography was the most relevant factor in determining the maternal genetic structure of northeastern Thai populations.

  12. Stability and Change in Genetic and Environmental Influences on Well-Being in Response to an Intervention

    PubMed Central

    Haworth, Claire M. A.; Nelson, S. Katherine; Layous, Kristin; Carter, Kathryn; Jacobs Bao, Katherine; Lyubomirsky, Sonja; Plomin, Robert

    2016-01-01

    Genetic and environmental influences on complex traits can change in response to developmental and environmental contexts. Here we explore the impact of a positive activity intervention on the genetic and environmental influences on well-being and mental health in a sample of 750 adolescent twins. Twins completed a 10-week online well-being intervention, consisting of kindness and gratitude tasks and matched control activities. The results showed significant improvements both in well-being and in internalizing symptoms in response to the intervention activities. We used multivariate twin analyses of repeated measures, tracking stability and change in genetic and environmental influences, to assess the impact of this environmental intervention on these variance components. The heritability of well-being remained high both before and after the intervention, and the same genetic effects were important at each stage, even as well-being increased. The overall magnitude of environmental influences was also stable across the intervention; however, different non-shared environmental influences emerged during the intervention. Our study highlights the value of exploring the innovations in non-shared environmental influences that could provide clues to the mechanisms behind improvements in well-being. The findings also emphasize that even traits strongly influenced by genetics, like well-being, are subject to change in response to environmental interventions. PMID:27227410

  13. Nanoclay addition to a conventional glass ionomer cements: Influence on physical properties

    PubMed Central

    Fareed, Muhammad A.; Stamboulis, Artemis

    2014-01-01

    Objective: The objective of the present study is to investigate the reinforcement effect of polymer-grade montmorillonite (PGN nanoclay) on physical properties of glass ionomer cement (GIC). Materials and Methods: The PGN nanoclay was dispersed in the liquid portion of GIC (HiFi, Advanced Healthcare, Kent, UK) at 1%, 2% and 4% (w/w). Fourier-transform infrared (FTIR) spectroscopy was used to quantify the polymer liquid of GICs after dispersion of nanoclay. The molecular weight (Mw) of HiFi liquid was determined by gel permeation chromatography. The compressive strength (CS), diametral-tensile strength, flexural strength (FS) and flexural modulus (Ef) of cements (n = 20) were measured after storage for 1 day, 1 week and 1 month. Fractured surface was analyzed by scanning electron microscopy. The working and setting time (WT and ST) of cements was measured by a modified Wilson's rheometer. Results: The FTIR results showed a new peak at 1041 cm−1 which increased in intensity with an increase in the nanoclay content and was related to the Si-O stretching mode in PGN nanoclay. The Mw of poly (acrylic acid) used to form cement was in the range of 53,000 g/mol. The nanoclay reinforced GICs containing <2% nanoclays exhibited higher CS and FS. The Ef cement with 1% nanoclays was significantly higher. The WT and ST of 1% nanoclay reinforced cement were similar to the control cement but were reduced with 2% and 4% nanoclay addition. Conclusion: The dispersion of nanoclays in GICs was achieved, and GIC containing 2 wt% nanoclay is a promising restorative materials with improved physical properties. PMID:25512724

  14. Influence of the addition of rosemary essential oil on the volatiles pattern of porcine frankfurters.

    PubMed

    Estévez, Mario; Ventanas, Sonia; Ramírez, Rosario; Cava, Ramón

    2005-10-19

    The effect of the addition of increasing levels of rosemary essential oil (150, 300, and 600 mg/kg) on the generation of volatile compounds in frankfurters from Iberian and white pigs was analyzed using solid-phase microextraction coupled to gas chromatography and mass spectrometry (SPME-GC-MS). Lipid-derived volatiles such as aldehydes (hexanal, octanal, nonanal) and alcohols (pentan-1-ol, hexan-1-ol, oct-1-en-3-ol) were the most abundant compounds in the headspace (HS) of porcine frankfurters. Frankfurters from different pig breeds presented different volatile profiles due to their different oxidation susceptibilities as a likely result of their fatty acid composition and vitamin E content. Rosemary essential oil showed a different effect on the generation of volatiles depending on the type of frankfurter in which they were added. In frankfurters from Iberian pigs, the antioxidant effect of the essential oil improved with increasing levels, showing the highest activity at 600 mg/kg. In contrast, 150 mg/kg of the essential oil improved the oxidative stability of frankfurters from white pigs, whereas higher levels led to no effect or a prooxidant effect. The activity of the essential oil could have been affected by the different fatty acid compositions and vitamin E contents between types of frankfurters. SPME successfully allowed the isolation and analysis of volatile terpenes from frankfurters with added rosemary essential oil including alpha-pinene, beta-myrcene, l-limonene, (E)-caryophyllene, linalool, camphor, and 1,8-cineole, which might contribute to the aroma characteristics of frankfurters.

  15. Nature and nurture: environmental influences on a genetic rat model of depression.

    PubMed

    Mehta-Raghavan, N S; Wert, S L; Morley, C; Graf, E N; Redei, E E

    2016-03-29

    In this study, we sought to learn whether adverse events such as chronic restraint stress (CRS), or 'nurture' in the form of environmental enrichment (EE), could modify depression-like behavior and blood biomarker transcript levels in a genetic rat model of depression. The Wistar Kyoto More Immobile (WMI) is a genetic model of depression that aided in the identification of blood transcriptomic markers, which successfully distinguished adolescent and adult subjects with major depressive disorders from their matched no-disorder controls. Here, we followed the effects of CRS and EE in adult male WMIs and their genetically similar control strain, the Wistar Kyoto Less Immobile (WLI), that does not show depression-like behavior, by measuring the levels of these transcripts in the blood and hippocampus. In WLIs, increased depression-like behavior and transcriptomic changes were present in response to CRS, but in WMIs no behavioral or additive transcriptomic changes occurred. Environmental enrichment decreased both the inherent depression-like behavior in the WMIs and the behavioral difference between WMIs and WLIs, but did not reverse basal transcript level differences between the strains. The inverse behavioral change induced by CRS and EE in the WLIs did not result in parallel inverse expression changes of the transcriptomic markers, suggesting that these behavioral responses to the environment work via separate molecular pathways. In contrast, 'trait' transcriptomic markers with expression differences inherent and unchanging between the strains regardless of the environment suggest that in our model, environmental and genetic etiologies of depression work through independent molecular mechanisms.

  16. Evidence for genetic influences on neurotransmitter content of identified neurones of Lymnaea stagnalis.

    PubMed

    Audesirk, G; Audesirk, T; McCaman, R E; Ono, J K

    1985-01-01

    Neurotransmitter content was measured in two identified giant neurones in isogenic and wild-type populations of the freshwater pond snail Lymnaea stagnalis. The paired serotonergic cerebral giant neurones (LC1 and RC1) have higher transmitter levels and less variability in inbred animals than in wild-type animals. The transmitter content of the unpaired dopaminergic right pedal giant neurone (RPeD1) does not differ between inbred and wild-type animals in either level or variability. It is proposed that serotonin content of the cerebral giant neurones is under partial genetic control, and that animals of the wild-type population may possess a number of different alleles for the genes influencing serotonin levels. Inbreeding resulted in fixation of an allele promoting high serotonin levels. This particular wild-type population is probably already isogenic for genes influencing dopamine content in the right pedal giant neurone.

  17. Environmental Influences on the Longitudinal Covariance of Expressive Vocabulary: Measuring the Home Literacy Environment in a Genetically Sensitive Design

    ERIC Educational Resources Information Center

    Hart, Sara A.; Petrill, Stephen A.; DeThorne, Laura S.; Deater-Deckard, Kirby; Thompson, Lee A.; Schatschneider, Chris; Cutting, Laurie E.

    2009-01-01

    Background: Despite the well-replicated relationship between the home literacy environment and expressive vocabulary, few studies have examined the extent to which the home literacy environment is associated with the development of early vocabulary ability in the context of genetic influences. This study examined the influence of the home literacy…

  18. Does Skeletal Muscle Mass Influence Breast Cancer? Evaluating Mammary Tumorigenesis and Progression Genetically Hyper-Muscular Mice

    DTIC Science & Technology

    2006-07-01

    1-0424 TITLE: Does Skeletal Muscle Mass Influence Breast Cancer ? Evaluating Mammary Tumorigenesis and Progression in...SUBTITLE Does Skeletal Muscle Mass Influence Breast Cancer ? Evaluating Mammary 5a. CONTRACT NUMBER Tumorigenesis and Progression in Genetically...activity independently reduce breast cancer . Conversely, obesity and insulin resistance are associated with increased breast cancer incidence

  19. Genetic factors influencing age at onset in LRRK2-linked Parkinson disease.

    PubMed

    Golub, Yulia; Berg, Daniela; Calne, Donald B; Pfeiffer, Ronald F; Uitti, Ryan J; Stoessl, A Jon; Wszolek, Zbigniew K; Farrer, Matthew J; Mueller, Jakob C; Gasser, Thomas; Fuchs, Julia

    2009-08-01

    Patients with Leucine-rich repeat kinase 2 (LRRK2) linked Parkinson's disease (PD) clinically present with typical idiopathic PD. However, LRRK2-linked PD displays a pleomorphic neuropathology and high variability in age at disease onset (AAO) which suggests that environmental and/or genetic factors other than the mutation itself influence the course of the disease. We investigated the modulation of AAO by genetic factors including the mutation-containing domain and PD associated polymorphisms in the gene coding alpha-synuclein (SNCA) and tau (MAPT) in 44 patients from 19 affected families. Using this limited number of available LRRK2 mutation carriers, we provide evidence that mutations in the kinase domain of Lrrk2 significantly decrease AAO compared to mutations in the ROC (Ras/GTPase of complex proteins) domain. Furthermore, polymorphic variations in MAPT show a significant association with AAO in individuals with LRRK2 mutations. Our results await replication in future studies with a larger number of LRRK2 mutation carriers, but indicate an association of mutation-affected protein domain and mutation-extrinsic genetic factors with AAO and suggest that these factors could contribute to explain the phenotypic heterogeneity observed in LRRK2-linked PD.

  20. Genetic Influences on Physiological and Subjective Responses to an Aerobic Exercise Session among Sedentary Adults

    PubMed Central

    Karoly, Hollis C.; Stevens, Courtney J.; Magnan, Renee E.; Harlaar, Nicole; Hutchison, Kent E.; Bryan, Angela D.

    2012-01-01

    Objective. To determine whether genetic variants suggested by the literature to be associated with physiology and fitness phenotypes predicted differential physiological and subjective responses to a bout of aerobic exercise among inactive but otherwise healthy adults. Method. Participants completed a 30-minute submaximal aerobic exercise session. Measures of physiological and subjective responding were taken before, during, and after exercise. 14 single nucleotide polymorphisms (SNPs) that have been previously associated with various exercise phenotypes were tested for associations with physiological and subjective response to exercise phenotypes. Results. We found that two SNPs in the FTO gene (rs8044769 and rs3751812) were related to positive affect change during exercise. Two SNPs in the CREB1 gene (rs2253206 and 2360969) were related to change in temperature during exercise and with maximal oxygen capacity (VO2 max). The SLIT2 SNP rs1379659 and the FAM5C SNP rs1935881 were associated with norepinephrine change during exercise. Finally, the OPRM1 SNP rs1799971 was related to changes in norepinephrine, lactate, and rate of perceived exertion (RPE) during exercise. Conclusion. Genetic factors influence both physiological and subjective responses to exercise. A better understanding of genetic factors underlying physiological and subjective responses to aerobic exercise has implications for development and potential tailoring of exercise interventions. PMID:22899923

  1. Genetic, environmental and epigenetic influences on variation in human tooth number, size and shape.

    PubMed

    Townsend, Grant; Bockmann, Michelle; Hughes, Toby; Brook, Alan

    2012-01-01

    The aim of this review is to highlight some key recent developments in studies of tooth number, size and shape that are providing better insights into the roles of genetic, environmental and epigenetic factors in the process of dental development. Advances in molecular genetics are helping to clarify how epigenetic factors influence the spatial and temporal regulation of the complex processes involved in odontogenesis. At the phenotypic level, the development of sophisticated systems for image analysis is enabling new dental phenotypes to be defined. The 2D and 3D data that are generated by these imaging systems can then be analysed with mathematical approaches, such as geometric morphometric analysis. By gathering phenotypic data and DNA from twins, it is now possible to use 'genome-wide' association studies and the monozygotic co-twin design to identify important genes in odontogenesis and also to clarify how epigenetic and environmental factors can affect this process. Given that many of the common dental anomalies affecting the human dentition are interrelated, apparently reflecting pleiotropic genetic effects, the discoveries and new directions described in this paper should have important implications for clinical dental practice in the future.

  2. Genetic influences on blood lipids and cardiovascular disease risk: tools for primary prevention1234

    PubMed Central

    Ordovas, José M

    2009-01-01

    Genetic polymorphism in human populations is part of the evolutionary process that results from the interaction between the environment and the human genome. Recent changes in diet have upset this equilibrium, potentially influencing the risk of most common morbidities such as cardiovascular diseases, obesity, diabetes, and cancer. Reduction of these conditions is a major public health concern, and such a reduction could be achieved by improving our ability to detect disease predisposition early in life and by providing more personalized behavioral recommendations for successful primary prevention. In terms of cardiovascular diseases, polymorphisms at multiple genes have been associated with differential effects in terms of lipid metabolism; however, the connection with cardiovascular disease has been more elusive, and considerable heterogeneity exists among studies regarding the predictive value of genetic markers. This may be because of experimental limitations, the intrinsic complexity of the phenotypes, and the aforementioned interactions with environmental factors. The integration of genetic and environmental complexity into current and future research will drive the field toward the implementation of clinical tools aimed at providing dietary advice optimized for the individual's genome. This may imply that dietary changes are implemented early in life to gain maximum benefit. However, it is important to highlight that most reported studies have focused on adult populations and to extrapolate these findings to children and adolescents may not be justified until proper studies have been carried out in these populations and until the ethical and legal issues associated with this new field are adequately addressed. PMID:19339403

  3. Genetic and environmental influences on personality profile stability: unraveling the normativeness problem.

    PubMed

    Bleidorn, Wiebke; Kandler, Christian; Riemann, Rainer; Angleitner, Alois; Spinath, Frank M

    2012-08-01

    The present study is the first to disentangle the genetic and environmental influences on personality profile stability. Spanning a period of 10 years, we analyzed the etiology of 3 aspects of profile stability (overall profile stability, distinctive profile stability, and profile normativeness) using self- and peer reports from 539 identical and 280 fraternal twins reared together. This 3-wave multirater twin design allowed us to estimate the genetic and environmental effects on latent true scores of the 3 aspects of profile stability while controlling for method effects and random error. Consistent biometric results were only found for profile normativeness, whereas overall and distinctive profile stability scores turned out to be biased. Over time, we found personality profile normativeness to be relatively stable. This stability was due to both stable genetic and nonshared environmental effects, whereas innovative variance was completely explained by nonshared environmental effects. Our findings emphasize the importance of distinguishing between the different aspects of profile stability, since overall and distinctive stability scores are likely biased due to the normativeness problem. Yet indicating a person's similarity to the average person, the normativeness of a personality profile itself has a psychological meaning beyond socially desirable responding.

  4. Genetic and environmental influences on the germination of basidiospores in the Cryptococcus neoformans species complex

    PubMed Central

    Forsythe, Adrian; Vogan, Aaron; Xu, Jianping

    2016-01-01

    In basidiomycetous fungi, the viability of basidiospores is an important component of sexual fitness. However, relatively little is known about the genetic and environmental factors influencing basidiospore germination. In this study, we used human opportunistic yeast pathogens, Cryptococcus neoformans and Cryptococcus deneoformans, as models to investigate the potential effects of selected genetic and environmental factors on basidiospore germination. A total of five strains with known genome structure were used to construct six crosses, three of which were between strains within the same species, while the remaining three were hybrid crosses between C. neoformans and C. deneoformans. Offspring from these crosses were incubated on two media (a nutrient-limiting and a nutrient-rich) and three temperatures (23 °C, 30 °C, and 37 °C). In general, spores from intra-specific crosses had greater germination rates than those from inter-specific crosses. Of the two environmental factors, temperature showed a greater influence than nutrient medium, with the 37 °C environment yielding lower germination rates than at 23 °C and 30 °C environments in most crosses. Furthermore, there were notable interaction effects between environmental factors and parental strains or strain pairs on basidiospore germination. We discuss the implications of these results on pathogenesis and speciation in this human fungal pathogen. PMID:27644692

  5. Genetic and littermate influences on yawning in two selectively bred strains of rats.

    PubMed

    Moyaho, Alejandro; Barajas, Margarita; Ugarte, Araceli; Eguibar, José R

    2009-04-01

    This study was made to separate genetic from postnatal maternal influences on yawning in two strains of Sprague-Dawley rats selected for high- (HY) and low-yawning frequency (LY). Foster mothers of the two strains reared litters of pups in the four possible combinations and yawning was recorded in a novel environment when the adult offspring were 75-day-old. Yawning frequency of males and females was affected by pup strain but not by the strain of the foster mothers, when litter size was made constant; HY adult offspring yawned more than LY adult offspring. Yawning frequency was higher in HY male offspring than in HY female offspring. An interaction term between pup sex and the strain of the foster mothers revealed that while males reared by LY mothers yawned more than males reared by HY mothers, females reared by HY mothers yawned more than females reared by LY mothers. Mean frequency of yawning increased with the sex ratio of HY litters. These findings indicate that genetic and genotype-correlated littermate effects influence yawning frequency of adult offspring in response to a novel environment.

  6. Genetic variations in TCF7L2 influence therapeutic response to sulfonylureas in Indian diabetics.

    PubMed

    Dhawan, Dipali; Padh, Harish

    2016-11-01

    Sulfonylureas are widely used to treat type 2 diabetes, with considerable inter-individual variation in the hypoglycaemic response to sulfonylureas. Genetic variants in the gene encoding for transcription factor-7-like 2 (TCF7L2) have been associated with type 2 diabetes. This study aimed to study the effect of variations in TCF7L2 on therapeutic response to sulfonylureas in Type 2 diabetes mellitus patients. The effect of TCF7L2 rs12255372, rs7903146 and rs4506565 genotypes on glycaemic response was observed in 250 diabetic patients treated with sulfonylureas and sulfonylureas along with metformin. The genotyping tests were done by allele-specific multiplex PCR. Glycated haemoglobin (HbA1c) levels were used as phenotypic marker. 60% of sulfonylurea users did not achieve a target HbA1c levels of ⩽6.5% (48mmol/mol) (which denotes good control in diabetics). Genotype influenced response to sulfonylureas, with more treatment failure in the TT homozygotes in case of rs12255372 and rs4506565. The GG genotype at rs12255372 favourably influences treatment success with sulfonylurea therapy in patients with type 2 diabetes (p⩽0.05). At rs12255372, 70.5% GT or TT genotype failed to achieve therapeutic target, an absolute difference of 19% compared to GG homozygotes. Our preliminary data show that genetic variation at rs12255372 has a direct correlation with therapeutic success with sulfonylureas in type 2 diabetes, hence paving the way for better treatment outcomes in diabetics.

  7. The influence of impurities on the crystal structure and mechanical properties of additive manufactured U–14at.% Nb

    DOE PAGES

    Wu, Amanda S.; Brown, Donald W.; Clausen, Bjørn; ...

    2017-03-01

    Uranium-niobium alloys can exist with significantly different microstructures and mechanical properties, heavily influenced by thermomechanical processing history and impurities. In this study, the influence of Ti and other impurities is studied on uranium-14 at.% niobium additively manufactured using laser powder bed fusion. In two different metallic impurity levels were investigated and a Nb equivalent (Nbeq) composition is defined to represent the impurities. Furthermore, in-situ neutron diffraction during compression loading shows that increased Nbeq promotes the formation of γ°-tetragonal phase at the expense of α''-monoclinic phase, resulting in 2 × higher yield strength than water quenched α'' and a strain inducedmore » transformation to α'' with superelastic strains to 4.5%.« less

  8. Influence of tall oil biodiesel with Mg and Mo based fuel additives on diesel engine performance and emission.

    PubMed

    Keskin, Ali; Gürü, Metin; Altiparmak, Duran

    2008-09-01

    The purpose of this study is to investigate influences of tall oil biodiesel with Mg and Mo based fuel additives on diesel engine performance and emission. Tall oil resinic acids were reacted with MgO and MoO(2) stoichiometrically for the production of metal-based fuel additives (combustion catalysts). The metal-based additives were added into tall oil biodiesel (B60) at the rate of 4 micromol/l, 8 micromol/l and 12 micromol/l for preparing test fuels. In general, both of the metal-based additives improved flash point, pour point and viscosity of the biodiesel fuel, depending on the rate of additives. A single cylinder DI diesel engine was used in the tests. Engine performance values did not change significantly with biodiesel fuels, but exhaust emission profile was improved. CO emissions and smoke opacity decreased by 56.42% and by 30.43%, respectively. In general, low NO(x) and CO(2) emissions were measured with the biodiesel fuels.

  9. The influence of small additions of diethylenetriamine on the detonation waves stability for nitromethane/acetone solution

    NASA Astrophysics Data System (ADS)

    Mochalova, V.; Utkin, A.

    2014-05-01

    Instability of detonation front in the nitromethane/acetone (NM/A) solution was observed in our previous work: at 10% of acetone the amplitude of heterogeneities was about 20 microns and at 20% of acetone this size was 50 microns. It is known that small additions of diethylenetriamine (DETA) considerably increase the initial rate of chemical reaction in detonation waves for NM. It was expected that DETA would influence the stability of detonation waves in the NM/A solution too. To investigate this phenomenon the laser interferometer VISAR was used for the recording of particle velocity profiles in detonation waves for NM/A. It was found that at the addition of 0.5% DETA to NM/A 90/10 the oscillations in the velocity profile decreased several times over. At the addition of 1% DETA the profile is smooth, i.e. the heterogeneities disappear and detonation wave becomes steady-state. In NM/A 80/20 at the addition of 5% DETA the heterogeneities size is reduced by the order. The increase of detonation wave velocity of NM/A grater than 1% was observed at small concentrations of DETA. Thus it was found that small additions of DETA to the NM/A solution with an unstable detonation front resulted not only in the decrease of heterogeneities size but in their disappearance and stabilization of detonation waves.

  10. Influence of boar breeds or hybrid genetic composition on semen quality and seminal plasma biochemical variables.

    PubMed

    Žaja, Ivona Žura; Samardžija, Marko; Vince, Silvijo; Majić-Balić, Ivanka; Vilić, Marinko; Đuričić, Dražen; Milinković-Tur, Suzana

    2016-01-01

    The enzyme concentrations of seminal plasma are important for spermatozoa metabolism and function in boars. The need has arisen for introducing a biochemical evaluation of semen, along with the usual standard semen analyses. There are no data on the influence of boar breeds on the seminal plasma biochemical variables investigated in this study. Therefore, the objective was to determine the influence of breed and hybrid genetic composition of boars on semen quality and seminal plasma biochemical variables. Semen samples of 27 boars (Swedish Landrace, German Landrace, Large White, Pietrain and Pig Improvement Company hybrid-PIC-hybrid), aged between 1.5 and 3 years, were collected. After evaluation of semen quality, the seminal plasma was separated from the spermatozoa by centrifugation of semen. The seminal plasma was subjected to spectrophotometric analysis to determine alkaline phosphatase (ALP), acid phosphatase (ACP), γ-glutamyltransferase (GGT), creatine kinase (CK) and lactate dehydrogenase (LDH) and to atomic absorption spectrophotometric analysis to measure the concentration of calcium and magnesium. Conventional semen quality variables differed depending on breed and PIC-hybrid genetic composition, though these differences were typically insignificant. In the seminal plasma, significant differences were determined in enzyme activity (ALP, GGT, CK and LDH) and in calcium concentration among boars of different breeds. There are, therefore, differences in semen quality and significant differences in the seminal plasma biochemical variables among boars of different breeds and PIC-hybrid genetic composition. The data and differences in semen variables detected in the present study provide knowledge for enhancing evaluation and monitoring of boar reproductive potential, semen quality and explain the potential causes of boar infertility.

  11. What influences the worldwide genetic structure of sperm whales (Physeter macrocephalus)?

    PubMed

    Alexander, Alana; Steel, Debbie; Hoekzema, Kendra; Mesnick, Sarah L; Engelhaupt, Daniel; Kerr, Iain; Payne, Roger; Baker, C Scott

    2016-06-01

    The interplay of natural selection and genetic drift, influenced by geographic isolation, mating systems and population size, determines patterns of genetic diversity within species. The sperm whale provides an interesting example of a long-lived species with few geographic barriers to dispersal. Worldwide mtDNA diversity is relatively low, but highly structured among geographic regions and social groups, attributed to female philopatry. However, it is unclear whether this female philopatry is due to geographic regions or social groups, or how this might vary on a worldwide scale. To answer these questions, we combined mtDNA information for 1091 previously published samples with 542 newly obtained DNA profiles (394-bp mtDNA, sex, 13 microsatellites) including the previously unsampled Indian Ocean, and social group information for 541 individuals. We found low mtDNA diversity (π = 0.430%) reflecting an expansion event <80 000 years bp, but strong differentiation by ocean, among regions within some oceans, and among social groups. In comparison, microsatellite differentiation was low at all levels, presumably due to male-mediated gene flow. A hierarchical amova showed that regions were important for explaining mtDNA variance in the Indian Ocean, but not Pacific, with social group sampling in the Atlantic too limited to include in analyses. Social groups were important in partitioning mtDNA and microsatellite variance within both oceans. Therefore, both geographic philopatry and social philopatry influence genetic structure in the sperm whale, but their relative importance differs by sex and ocean, reflecting breeding behaviour, geographic features and perhaps a more recent origin of sperm whales in the Pacific. By investigating the interplay of evolutionary forces operating at different temporal and geographic scales, we show that sperm whales are perhaps a unique example of a worldwide population expansion followed by rapid assortment due to female social

  12. Influence of antibiotic selection on genetic composition of Escherichia coli populations from conventional and organic dairy farms.

    PubMed

    Walk, Seth T; Mladonicky, Janice M; Middleton, Jaclyn A; Heidt, Anthony J; Cunningham, Julie R; Bartlett, Paul; Sato, Kenji; Whittam, Thomas S

    2007-10-01

    The widespread agricultural use of antimicrobials has long been considered a crucial influence on the prevalence of resistant genes and bacterial strains. It has been suggested that antibiotic applications in agricultural settings are a driving force for the development of antimicrobial resistance, and epidemiologic evidence supports the view that there is a direct link between resistant human pathogens, retail produce, farm animals, and farm environments. Despite such concerns, little is understood about the population processes underlying the emergence and spread of antibiotic resistance and the reversibility of resistance when antibiotic selective pressure is removed. In this study, hierarchical log-linear modeling was used to assess the association between farm type (conventional versus organic), age of cattle (calf versus cow), bacterial phenotype (resistant versus susceptible), and the genetic composition of Escherichia coli populations (E. coli Reference Collection [ECOR] phylogroup A, B1, B2, or D) among 678 susceptible and resistant strains from a previously published study of 60 matched dairy farms (30 conventional and 30 organic) in Wisconsin. The analysis provides evidence for clonal resistance (ampicillin resistance) and genetic hitchhiking (tetracycline resistance [Tet(r)]), estimated the rate of compositional change from conventional farming to organic farming (mean, 8 years; range, 3 to 15 years), and discovered a significant association between low multidrug resistance, organic farms, and strains of the numerically dominant phylogroup B1. These data suggest that organic farming practices not only change the frequency of resistant strains but also impact the overall population genetic composition of the resident E. coli flora. In addition, the results support the hypothesis that the current prevalence of Tet(r) loci on dairy farms has little to do with the use of this antibiotic.

  13. Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls

    PubMed Central

    Timofeeva, Maria N.; Hung, Rayjean J.; Rafnar, Thorunn; Christiani, David C.; Field, John K.; Bickeböller, Heike; Risch, Angela; McKay, James D.; Wang, Yufei; Dai, Juncheng; Gaborieau, Valerie; McLaughlin, John; Brenner, Darren; Narod, Steven A.; Caporaso, Neil E.; Albanes, Demetrius; Thun, Michael; Eisen, Timothy; Wichmann, H.-Erich; Rosenberger, Albert; Han, Younghun; Chen, Wei; Zhu, Dakai; Spitz, Margaret; Wu, Xifeng; Pande, Mala; Zhao, Yang; Zaridze, David; Szeszenia-Dabrowska, Neonilia; Lissowska, Jolanta; Rudnai, Peter; Fabianova, Eleonora; Mates, Dana; Bencko, Vladimir; Foretova, Lenka; Janout, Vladimir; Krokan, Hans E.; Gabrielsen, Maiken Elvestad; Skorpen, Frank; Vatten, Lars; Njølstad, Inger; Chen, Chu; Goodman, Gary; Lathrop, Mark; Benhamou, Simone; Vooder, Tõnu; Välk, Kristjan; Nelis, Mari; Metspalu, Andres; Raji, Olaide; Chen, Ying; Gosney, John; Liloglou, Triantafillos; Muley, Thomas; Dienemann, Hendrik; Thorleifsson, Gudmar; Shen, Hongbing; Stefansson, Kari; Brennan, Paul; Amos, Christopher I.; Houlston, Richard; Landi, Maria Teresa

    2012-01-01

    Recent genome-wide association studies (GWASs) have identified common genetic variants at 5p15.33, 6p21–6p22 and 15q25.1 associated with lung cancer risk. Several other genetic regions including variants of CHEK2 (22q12), TP53BP1 (15q15) and RAD52 (12p13) have been demonstrated to influence lung cancer risk in candidate- or pathway-based analyses. To identify novel risk variants for lung cancer, we performed a meta-analysis of 16 GWASs, totaling 14 900 cases and 29 485 controls of European descent. Our data provided increased support for previously identified risk loci at 5p15 (P = 7.2 × 10−16), 6p21 (P = 2.3 × 10−14) and 15q25 (P = 2.2 × 10−63). Furthermore, we demonstrated histology-specific effects for 5p15, 6p21 and 12p13 loci but not for the 15q25 region. Subgroup analysis also identified a novel disease locus for squamous cell carcinoma at 9p21 (CDKN2A/p16INK4A/p14ARF/CDKN2B/p15INK4B/ANRIL; rs1333040, P = 3.0 × 10−7) which was replicated in a series of 5415 Han Chinese (P = 0.03; combined analysis, P = 2.3 × 10−8). This large analysis provides additional evidence for the role of inherited genetic susceptibility to lung cancer and insight into biological differences in the development of the different histological types of lung cancer. PMID:22899653

  14. Contrasting Influences of Geographic Range and Distribution of Populations on Patterns of Genetic Diversity in Two Sympatric Pilbara Acacias

    PubMed Central

    Levy, E.; Byrne, M.; Coates, D. J.; Macdonald, B. M.; McArthur, S.; van Leeuwen, S.

    2016-01-01

    The influence of geographic range on species persistence has long been of interest and there is a need for a better understanding of the genetic consequences for species with restricted distributions, particularly with the increasing rate of global species extinctions. However, the genetic effects of restricted range are often confounded by the impacts of population distribution. We compared chloroplast and nuclear genetic diversity and differentiation in two acacias, the restricted, patchily distributed Acacia atkinsiana and the widespread, semi-continuously distributed A. ancistrocarpa. Lower intra-population diversity and higher differentiation between populations were seen in A. atkinsiana compared to its widespread congener, A. ancistrocarpa. There was little evidence of geographical influences on population genetic structure in A. ancistrocarpa whereas A. atkinsiana exhibited nuclear genetic structure with isolation by distance, differentiation of near-coastal populations from those in the ranges, and differentiation of peripheral populations from those in the centre of the distribution. These results are consistent with expectations of the effect of geographic range and population distribution on genetic diversity, but indicate that distribution of populations rather than geographic range has influenced the observed genetic structure. The contrasting patterns observed here demonstrate that conservation approaches for species management and ecological restoration need to consider the distribution of populations in geographically restricted species. PMID:27768703

  15. Resting heart rate and the development of antisocial behavior from age 9 to 14: Genetic and environmental influences

    PubMed Central

    BAKER, LAURA A.; TUVBLAD, CATHERINE; REYNOLDS, CHANDRA; ZHENG, MO; LOZANO, DORA ISABEL; RAINE, ADRIAN

    2009-01-01

    The genetic and environmental basis of a well-replicated association between antisocial behavior (ASB) and resting heart rate was investigated in a longitudinal twin study, based on two measurements between the ages of 9 and 14 years. ASB was defined as a broad continuum of externalizing behavior problems, assessed at each occasion through a composite measure based on parent ratings of trait aggression, delinquent behaviors, and psychopathic traits in their children. Parent ratings of ASB significantly decreased across age from childhood to early adolescence, although latent growth models indicated significant variation and twin similarity in the growth patterns, which were explained almost entirely by genetic influences. Resting heart rate at age 9–10 years old was inversely related to levels of ASB but not change patterns of ASB across age or occasions. Biometrical analyses indicated significant genetic influences on heart rate during childhood, as well as ASB throughout development from age 9 to 14. Both level and slope variation were significantly influenced by genetic factors. Of importance, the low resting heart rate and ASB association was significantly and entirely explained by their genetic covariation, although the heritable component of heart rate explained only a small portion (1–4%) of the substantial genetic variance in ASB. Although the effect size is small, children with low resting heart rate appear to be genetically predisposed toward externalizing behavior problems as early as age 9 years old. PMID:19583891

  16. The influence of deposit control additives on nitrogen oxides emissions from spark ignition engines (case study: Tehran).

    PubMed

    Bidhendi, Gholamreza Nabi; Zand, Ali Daryabeigi; Tabrizi, Alireza Mikaeili; Pezeshk, Hamid; Baghvand, Akbar

    2007-04-15

    In the present research, the influence of a deposit control additive on NOx emissions from two types of gasoline engine vehicles i.e., Peykan (base on Hillman) and Pride (South Korea Kia motors) was studied. Exhaust NOx emissions were measured in to stages, before decarbonization process and after that. Statistical analysis was conducted on the measurement results. Results showed that NOx emissions from Peykans increased 0.28% and NOx emissions from Pride automobiles decreased 6.18% on average, due to the elimination of engine deposits. The observed variations were not statistically and practically significant. The results indicated that making use of detergent additives is not an effective way to reduce the exhaust NOx emissions from gasoline engine vehicles.

  17. Influence of the timing of nitrogen additions during synthetic grape must fermentations on fermentation kinetics and nitrogen consumption.

    PubMed

    Beltran, Gemma; Esteve-Zarzoso, Braulio; Rozès, Nicolas; Mas, Albert; Guillamón, José M

    2005-02-23

    Nitrogen deficiencies in grape musts are one of the main causes of stuck or sluggish wine fermentations. In the present study, we have supplemented nitrogen-deficient fermentations with a mixture of ammonium and amino acids at various stages throughout the alcoholic fermentation. The timing of the nitrogen additions influenced the biomass yield, the fermentation performance, the patterns of ammonium and amino acid consumption, and the production of secondary metabolites. These nitrogen additions induced a nitrogen-repressed situation in the cells, and this situation determined which nitrogen sources were selected. Glutamine and tryptophan were the main amino acids consumed in all the fermentations. Ammonium is the preferred nitrogen source for biomass production but was hardly consumed when it was added in the final stages of the fermentation. The higher ammonium consumption in some fermentations correlated with a greater synthesis of glycerol, acetate, and acetaldehyde but with a lower synthesis of higher alcohols.

  18. Japanese children's numerical competencies: age- and schooling-related influences on the development of number concepts and addition skills.

    PubMed

    Naito, M; Miura, H

    2001-03-01

    Using a cutoff design (J. Bisanz, F. J. Morrison, & M. Dunn, 1995) to separate school-related influences from those that are age related, the study investigated the development of number concepts and addition skills in Japanese children. Three groups of kindergarten and 1st grade children who differed in age and/or school experiences completed tasks on their numerical competencies 1 and 6 months after school entrance. Children's use of addition strategies, rather than their solution accuracy, changed primarily as a function of schooling, not age. Children's Base 10 number concepts improved with the amount of schooling, as well as with other social and age-related factors. Results suggest that schooling is an important determinant in developing Japanese-speaking children's numerical competencies, which were not explained solely by their language characteristics or by age-related factors.

  19. Influence of Fused CaZrO3 Addition on Properties of Chrome-free Castables for RH Degassers

    NASA Astrophysics Data System (ADS)

    Zhu, X. W.; Liang, Y. H.; Nie, J. H.; Yue, P.; Cui, R. Q.

    2017-02-01

    This thesis considered specific operating conditions of RH degassers, using corundum and spinel as the main raw material, adding proper micropowder and the efficient compound water reducing agent, discussed the influence of fused CaZrO3 addition on RH degassers used chrome-free castable’s properties, which includes the castable’s strength, permanent line rate, wear resistance and performance of the slag resistance. The results showed: (1) Adding proper fused CaZrO3 can improve the strength of castable and wear resistance;(2) With the increase of the content of CaZrO3, volume density of castable declined slightly, apparent porosity increases, the line rate increased obviously;(3) With the increase of the amount of CaZrO3, slag erosion resistance of castable declined;(4) From the perspective of the comprehensive performance of castable, fused CaZrO3 suitable addition amount of 2 ∼ 4%.

  20. Monitoring low benzene exposure: comparative evaluation of urinary biomarkers, influence of cigarette smoking, and genetic polymorphisms.

    PubMed

    Fustinoni, Silvia; Consonni, Dario; Campo, Laura; Buratti, Marina; Colombi, Antonio; Pesatori, Angela C; Bonzini, Matteo; Bertazzi, Pier A; Foà, Vito; Garte, Seymour; Farmer, Peter B; Levy, Leonard S; Pala, Mauro; Valerio, Federico; Fontana, Vincenzo; Desideri, Arianna; Merlo, Domenico F

    2005-09-01

    Benzene is a human carcinogen and an ubiquitous environmental pollutant. Identification of specific and sensitive biological markers is critical for the definition of exposure to low benzene level and the evaluation of the health risk posed by this exposure. This investigation compared urinary trans,trans-muconic acid (t,t-MA), S-phenylmercapturic acid, and benzene (U-benzene) as biomarkers to assess benzene exposure and evaluated the influence of smoking and the genetic polymorphisms CYP2E1 (RsaI and DraI) and NADPH quinone oxidoreductase-1 on these indices. Gas station attendants, urban policemen, bus drivers, and two groups of controls were studied (415 subjects). Median benzene exposure was 61, 22, 21, 9 and 6 microg/m(3), respectively, with higher levels in workers than in controls. U-benzene, but not t,t-MA and S-phenylmercapturic acid, showed an exposure-related increase. All the biomarkers were strongly influenced by cigarette smoking, with values up to 8-fold higher in smokers compared with nonsmokers. Significant correlations of the biomarkers with each other and with urinary cotinine were found. A possible influence of genetic polymorphism of CYP2E1 (RsaI and/or DraI) on t,t-MA and U-benzene in subjects with a variant allele was found. Multiple linear regression analysis correlated the urinary markers with exposure, smoking status, and CYP2E1 (RsaI; R(2) up to 0.55 for U-benzene). In conclusion, in the range of investigated benzene levels (<478 micro/m(3) or <0.15 ppm), smoking may be regarded as the major source of benzene intake; among the study indices, U-benzene is the marker of choice for biomonitoring low-level occupational and environmental benzene exposure.

  1. Influence of additions and radiation damage on the superconducting properties of sintered YBa 2Cu 3O 7 - gd

    NASA Astrophysics Data System (ADS)

    Koblischka, M. R.; Schuster, Th.; Kronmüller, H.

    1993-06-01

    Using the high-resolution Faraday (HRF) technique, domain patterns of sintered YBa 2Cu 3O 7 - δ samples containing additions of Ag 2O and Y 2BaCuO 5 are obtained. Similar observations are carried out on sintered YBa 2Cu 3O 7- δ samples with reduced oxygen content and on electron-irradiated samples. The penetration of flux into sintered high- Tc superconductors is found to be totally different from single crystalline materials (single crystals and epitaxial thin films) as the Abrikosov vortices penetrate the sample not as a whole thus forming a so-called flux front. Only a flux penetration into single superconducting grains is observed. From the measured flux density profiles, the intragrain critical current densities are determined locally. It is found that the chemical impurity phases do not affect the intragranular flux density distribution and the intragranular critical current density, but the decomposition of the Ag 2O leads to an improved oxygen stoichiometry in these samples. Electron irradiation is found to enhance the intragrain critical current densities, whereas the oxygen reduction leads to reduced intragrain currents. To determine the influence of the additions also on the intergrain critical current densities, standard four-point transport current measurements are carried out on the same samples. It is found that a maximum enhancement of the critical current density is obtained by the addition of 10 wt% silver oxide; however, this critical current density is drastically reduced by applying small external magnetic fields. The lower critical field of the matrix and the corresponding Josephson penetration depth are determined from transport current measurements. The Ag 2O additions and the green phase particles are found to separate the superconducting YBa 2Cu 3O 7- δ grains. The resulting larger widths of the barriers between the superconducting grains are found to cause a stronger influence of external magnetic fields on the intergrain critical

  2. Genetic and environmental influences on the relationship between peer alcohol use and own alcohol use in adolescents

    PubMed Central

    Fowler, Tom; Shelton, Katherine; Lifford, Kate; Rice, Frances; McBride, Andrew; Nikolov, Ivan; Neale, Michael C; Harold, Gordon; Thapar, Anita; van den Bree, Marianne B M

    2007-01-01

    Aims Genetically influenced aspects of adolescent behaviour can play a role in alcohol use and peer affiliation. We explored the correlations between friends' alcohol use and adolescent own use with a genetically sensitive design. Design Genetic and environmental factors were estimated on adolescent reports of their friends' alcohol use and their own use and problem use of alcohol. The correlations between the genetic and environmental factors that influence friends' alcohol use and adolescent own alcohol use and problem use were also estimated. Participants A total of 862 twin pairs aged 11–17 years sampled from the UK population-based Cardiff Study of All Wales and North-west of England Twins (CaStANET). Measurements Data on adolescent own alcohol use and problem use and the alcohol use of their three best friends were obtained using self-report questionnaires. Findings A significant genetic influence was found on adolescent friends' alcohol use (about 30%). Significant correlations of 0.60 and 0.70 were found between the genetic influences on friends' alcohol use and adolescents' own use and problem use of alcohol. Common environmental influences were almost completely correlated for friends' alcohol use and adolescents' own alcohol use and problem use (0.91 and 0.94). Conclusions There is considerable overlap in the common environmental and genetic factors that contribute to the relationship between adolescents' own alcohol use and that of their friends. These findings contribute to understanding of the mechanisms by which friends' alcohol use influences adolescent drinking behaviour. PMID:17523983

  3. Genetics and antisocial behavior.

    PubMed

    Joseph, Jay

    2003-01-01

    This commentary article reviews a recent meta-analysis of genetic influences on antisocial behavior by Rhee and Waldman (2002). The authors combined the results of 51 twin and adoption studies and concluded that antisocial behavior has an important genetic component. However, twin and adoption studies contain several methodological flaws and are subject to the confounding influence of environmental factors. Therefore, Rhee and Waldman's conclusions in favor of genetic influences are not supported by the evidence. Two additional topics are Rhee and Waldman's incorrect description of the heritability concept and their failure to discuss several German criminal twin studies published during the Nazi era.

  4. Influence of Postbuild Microstructure on the Electrochemical Behavior of Additively Manufactured 17-4 PH Stainless Steel

    NASA Astrophysics Data System (ADS)

    Stoudt, M. R.; Ricker, R. E.; Lass, E. A.; Levine, L. E.

    2017-01-01

    The additive manufacturing build process produces a segregated microstructure with significant variations in composition and phases that are uncommon in traditional wrought materials. As such, the relationship between the postbuild microstructure and the corrosion resistance is not well understood. Stainless steel alloy 17-4 precipitation hardened (SS17-4PH) is an industrially relevant alloy for applications requiring high strength and good corrosion resistance. A series of potentiodynamic scans conducted in a deaerated 0.5-mol/L NaCl solution evaluated the influence of these microstructural differences on the pitting behavior of SS17-4. The pitting potentials were found to be higher in the samples of additively processed material than in the samples of the alloy in wrought form. This indicates that the additively processed material is more resistant to localized corrosion and pitting in this environment than is the wrought alloy. The results also suggest that after homogenization, the additively produced SS17-4 could be more resistant to pitting than the wrought SS17-4 is in an actual service environment.

  5. Influence of Postbuild Microstructure on the Electrochemical Behavior of Additively Manufactured 17-4 PH Stainless Steel

    NASA Astrophysics Data System (ADS)

    Stoudt, M. R.; Ricker, R. E.; Lass, E. A.; Levine, L. E.

    2017-03-01

    The additive manufacturing build process produces a segregated microstructure with significant variations in composition and phases that are uncommon in traditional wrought materials. As such, the relationship between the postbuild microstructure and the corrosion resistance is not well understood. Stainless steel alloy 17-4 precipitation hardened (SS17-4PH) is an industrially relevant alloy for applications requiring high strength and good corrosion resistance. A series of potentiodynamic scans conducted in a deaerated 0.5-mol/L NaCl solution evaluated the influence of these microstructural differences on the pitting behavior of SS17-4. The pitting potentials were found to be higher in the samples of additively processed material than in the samples of the alloy in wrought form. This indicates that the additively processed material is more resistant to localized corrosion and pitting in this environment than is the wrought alloy. The results also suggest that after homogenization, the additively produced SS17-4 could be more resistant to pitting than the wrought SS17-4 is in an actual service environment.

  6. Migration of additive molecules in a polymer filament obtained by melt spinning: Influence of the fiber processing steps

    SciTech Connect

    Gesta, E.; Skovmand, O.; Espuche, E. Fulchiron, R.

    2015-12-17

    The purpose of this study is to understand the influence of the yarn processing on the migration of additives molecules, especially insecticide, within polyethylene (PE) yarns. Yarns were manufactured in the laboratory focusing on three key-steps (spinning, post-stretching and heat-setting). Influence of each step on yarn properties was investigated using tensile tests, differential scanning calorimetry and wide-angle X-ray diffraction. The post-stretching step was proved to be critical in defining yarn mechanical and structural properties. Although a first orientation of polyethylene crystals was induced during spinning, the optimal orientation was only reached by post-stretching. The results also showed that the heat-setting did not significantly change these properties. The presence of additives crystals at the yarn surface was evidenced by scanning-electron microscopy. These studies performed at each yarn production step allowed a detailed analysis of the additives’ ability to migrate. It is concluded that while post-stretching decreased the migration rate, heat-setting seems to boost this migration.

  7. Genetic Based Plant Resistance and Susceptibility Traits to Herbivory Influence Needle and Root Litter Nutrient Dynamics

    SciTech Connect

    Classen, Aimee T; Chapman, Samantha K.; Whitham, Thomas G; Hart, Stephen C; Koch, George W

    2007-01-01

    It is generally assumed that leaf and root litter decomposition have similar drivers and that nutrient release from these substrates is synchronized. Few studies have examined these assumptions, and none has examined how plant genetics (i.e., plant susceptibility to herbivory) could affect these relationships. Here we examine the effects of herbivore susceptibility and resistance on needle and fine root litter decomposition of pi on pine, Pinus edulis. The study population consists of individual trees that are either susceptible or resistant to herbivory by the pi on needle scale, Matsucoccus acalyptus, or the stem-boring moth, Dioryctria albovittella. Genetic analyses and experimental removals and additions of these insects have identified trees that are naturally resistant and susceptible to these insects. These herbivores increase the chemical quality of litter inputs and alter soil microclimate, both of which are important decomposition drivers. Our research leads to four major conclusions: Herbivore susceptibility and resistance effects on 1) needle litter mass loss and phosphorus (P) retention in moth susceptible and resistant litter are governed by microclimate, 2) root litter nitrogen (N) and P retention, and needle litter N retention are governed by litter chemical quality, 3) net nutrient release from litter can reverse over time, 4) root and needle litter mass loss and nutrient release are determined by location (above- vs. belowground), suggesting that the regulators of needle and root decomposition differ at the local scale. Understanding of decomposition and nutrient retention in ecosystems requires consideration of herbivore effects on above- and belowground processes and how these effects may be governed by plant genotype. Because an underlying genetic component to herbivory is common to most ecosystems of the world and herbivory may increase in climatic change scenarios, it is important to evaluate the role of plant genetics in affecting carbon and

  8. Nature and nurture: environmental influences on a genetic rat model of depression

    PubMed Central

    Mehta-Raghavan, N S; Wert, S L; Morley, C; Graf, E N; Redei, E E

    2016-01-01

    In this study, we sought to learn whether adverse events such as chronic restraint stress (CRS), or ‘nurture' in the form of environmental enrichment (EE), could modify depression-like behavior and blood biomarker transcript levels in a genetic rat model of depression. The Wistar Kyoto More Immobile (WMI) is a genetic model of depression that aided in the identification of blood transcriptomic markers, which successfully distinguished adolescent and adult subjects with major depressive disorders from their matched no-disorder controls. Here, we followed the effects of CRS and EE in adult male WMIs and their genetically similar control strain, the Wistar Kyoto Less Immobile (WLI), that does not show depression-like behavior, by measuring the levels of these transcripts in the blood and hippocampus. In WLIs, increased depression-like behavior and transcriptomic changes were present in response to CRS, but in WMIs no behavioral or additive transcriptomic changes occurred. Environmental enrichment decreased both the inherent depression-like behavior in the WMIs and the behavioral difference between WMIs and WLIs, but did not reverse basal transcript level differences between the strains. The inverse behavioral change induced by CRS and EE in the WLIs did not result in parallel inverse expression changes of the transcriptomic markers, suggesting that these behavioral responses to the environment work via separate molecular pathways. In contrast, ‘trait' transcriptomic markers with expression differences inherent and unchanging between the strains regardless of the environment suggest that in our model, environmental and genetic etiologies of depression work through independent molecular mechanisms. PMID:27023176

  9. Genetic and environmental influences on blood pressure and physical activity: a study of nuclear families from Muzambinho, Brazil.

    PubMed

    Forjaz, C L M; Bartholomeu, T; Rezende, J A S; Oliveira, J A; Basso, L; Tani, G; Prista, A; Maia, J A R

    2012-12-01

    Blood pressure (BP) and physical activity (PA) levels are inversely associated. Since genetic factors account for the observed variation in each of these traits, it is possible that part of their association may be related to common genetic and/or environmental influences. Thus, this study was designed to estimate the genetic and environmental correlations of BP and PA phenotypes in nuclear families from Muzambinho, Brazil. Families including 236 offspring (6 to 24 years) and their 82 fathers and 122 mothers (24 to 65 years) were evaluated. BP was measured, and total PA (TPA) was assessed by an interview (commuting, occupational, leisure time, and school time PA). Quantitative genetic modeling was used to estimate maximal heritability (h²), and genetic and environmental correlations. Heritability was significant for all phenotypes (systolic BP: h² = 0.37 ± 0.10, P < 0.05; diastolic BP: h² = 0.39 ± 0.09, P < 0.05; TPA: h² = 0.24 ± 0.09, P < 0.05). Significant genetic (r g) and environmental (r e) correlations were detected between systolic and diastolic BP (r g = 0.67 ± 0.12 and r e = 0.48 ± 0.08, P < 0.05). Genetic correlations between BP and TPA were not significant, while a tendency to an environmental cross-trait correlation was found between diastolic BP and TPA (r e = -0.18 ± 0.09, P = 0.057). In conclusion, BP and PA are under genetic influences. Systolic and diastolic BP share common genes and environmental influences. Diastolic BP and TPA are probably under similar environmental influences.

  10. Developmental changes in genetic and environmental influences on rule-breaking and aggression: age and pubertal development

    PubMed Central

    Harden, K. Paige; Patterson, Megan W.; Briley, Daniel A.; Engelhardt, Laura E.; Kretsch, Natalie; Mann, Frank D.; Tackett, Jennifer L.; Tucker-Drob, Elliot M.

    2015-01-01

    Background Antisocial behavior (ASB) can be meaningfully divided into non-aggressive rule-breaking versus aggressive dimensions, which differ in developmental course and etiology. Previous research has found that genetic influences on rule-breaking, but not aggression, increase from late childhood to mid-adolescence. This study tested the extent to which this developmental increase in genetic influence was associated with pubertal development compared to chronological age. Method Child and adolescent twins (n = 1,031), ranging in age from 8 to 20 years (M age = 13.5 years), were recruited from public schools as part of the Texas Twin Project. Participants reported on their pubertal development using the Pubertal Development Scale and on their involvement in ASB on an abbreviated version of the Child Behavior Checklist. Measurement invariance of ASB subtypes across age groups (≤12 years versus >12 years old) was tested using confirmatory factor analyses. Quantitative genetic modeling was used to test whether the genetic and environmental influences on aggression and rule-breaking were moderated by age, pubertal status, or both. Results Quantitative genetic modeling indicated that genetic influences specific to rule-breaking increased as a function of pubertal development controlling for age (a gene × puberty interaction), but did not vary as a function of age controlling for pubertal status. There were no developmental differences in the genetic etiology of aggression. Family-level environmental influences common to aggression and rule-breaking decreased with age, further contributing to the differentiation between these sub-types of ASB from childhood to adolescence. Conclusions Future research should discriminate between alternative possible mechanisms underlying gene × puberty interactions on rule-breaking forms of antisocial behavior, including possible effects of pubertal hormones on gene expression. PMID:25902931

  11. Genetic and environmental etiology of emotional and social behaviors in 5-month-old infant twins: influence of the social context.

    PubMed

    Soussignan, Robert; Boivin, Michel; Girard, Alain; Pérusse, Daniel; Liu, Xuecheng; Tremblay, Richard E

    2009-01-01

    The study investigated the genetic and environmental contributions to individual differences in measures of socioemotional reactivity and emotion regulation with a sample of 115 monozygotic (MZ) and 156 dizygotic (DZ) 5-month-old twin pairs. Twins' zygosity was determined by a combination of DNA typing and physical similarity. Twins' behaviors (motor activity level, social gaze, gaze aversion, positive expression, negative expression, and self-comfort) were videotaped in a laboratory while infants were presented televised sequences of neutral and happy emotional expressions posed by their mother (familiar condition) and a female stranger (unfamiliar condition). Regardless of the social context, the findings based on model-fitting analyses indicated that nonshared environmental influences explained most of the variance of behavioral data. However, there was evidence that motor activity level (an index of emotional arousal) and the latency and frequency of gaze aversion (an index of emotional regulation) were best represented by a model incorporating both additive genetic and nonshared environmental (i.e., AE) influences when infants were exposed to the unfamiliar adult (heritability estimates ranging from 19% to 31%). The results suggest the importance of nonshared environmental influences during early infancy and stress the role of social context for revealing moderate genetic contributions to individual differences in emotional arousal and emotion regulation.

  12. The high heritability of educational achievement reflects many genetically influenced traits, not just intelligence

    PubMed Central

    Krapohl, Eva; Rimfeld, Kaili; Shakeshaft, Nicholas G.; Trzaskowski, Maciej; McMillan, Andrew; Pingault, Jean-Baptiste; Asbury, Kathryn; Harlaar, Nicole; Kovas, Yulia; Dale, Philip S.; Plomin, Robert

    2014-01-01

    Because educational achievement at the end of compulsory schooling represents a major tipping point in life, understanding its causes and correlates is important for individual children, their families, and society. Here we identify the general ingredients of educational achievement using a multivariate design that goes beyond intelligence to consider a wide range of predictors, such as self-efficacy, personality, and behavior problems, to assess their independent and joint contributions to educational achievement. We use a genetically sensitive design to address the question of why educational achievement is so highly heritable. We focus on the results of a United Kingdom-wide examination, the General Certificate of Secondary Education (GCSE), which is administered at the end of compulsory education at age 16. GCSE scores were obtained for 13,306 twins at age 16, whom we also assessed contemporaneously on 83 scales that were condensed to nine broad psychological domains, including intelligence, self-efficacy, personality, well-being, and behavior problems. The mean of GCSE core subjects (English, mathematics, science) is more heritable (62%) than the nine predictor domains (35–58%). Each of the domains correlates significantly with GCSE results, and these correlations are largely mediated genetically. The main finding is that, although intelligence accounts for more of the heritability of GCSE than any other single domain, the other domains collectively account for about as much GCSE heritability as intelligence. Together with intelligence, these domains account for 75% of the heritability of GCSE. We conclude that the high heritability of educational achievement reflects many genetically influenced traits, not just intelligence. PMID:25288728

  13. The high heritability of educational achievement reflects many genetically influenced traits, not just intelligence.

    PubMed

    Krapohl, Eva; Rimfeld, Kaili; Shakeshaft, Nicholas G; Trzaskowski, Maciej; McMillan, Andrew; Pingault, Jean-Baptiste; Asbury, Kathryn; Harlaar, Nicole; Kovas, Yulia; Dale, Philip S; Plomin, Robert

    2014-10-21

    Because educational achievement at the end of compulsory schooling represents a major tipping point in life, understanding its causes and correlates is important for individual children, their families, and society. Here we identify the general ingredients of educational achievement using a multivariate design that goes beyond intelligence to consider a wide range of predictors, such as self-efficacy, personality, and behavior problems, to assess their independent and joint contributions to educational achievement. We use a genetically sensitive design to address the question of why educational achievement is so highly heritable. We focus on the results of a United Kingdom-wide examination, the General Certificate of Secondary Education (GCSE), which is administered at the end of compulsory education at age 16. GCSE scores were obtained for 13,306 twins at age 16, whom we also assessed contemporaneously on 83 scales that were condensed to nine broad psychological domains, including intelligence, self-efficacy, personality, well-being, and behavior problems. The mean of GCSE core subjects (English, mathematics, science) is more heritable (62%) than the nine predictor domains (35-58%). Each of the domains correlates significantly with GCSE results, and these correlations are largely mediated genetically. The main finding is that, although intelligence accounts for more of the heritability of GCSE than any other single domain, the other domains collectively account for about as much GCSE heritability as intelligence. Together with intelligence, these domains account for 75% of the heritability of GCSE. We conclude that the high heritability of educational achievement reflects many genetically influenced traits, not just intelligence.

  14. Neuropathic pain as part of chronic widespread pain: environmental and genetic influences.

    PubMed

    Momi, Sukhleen K; Fabiane, Stella Maris; Lachance, Genevieve; Livshits, Gregory; Williams, Frances M K

    2015-10-01

    Chronic widespread pain (CWP) has complex aetiology and forms part of the fibromyalgia syndrome. Recent evidence suggests a higher frequency of neuropathic pain features in those with CWP than previously thought. The aim of this study was to determine the prevalence of neuropathic pain features in individuals with CWP and to estimate the influence of genetic and environmental factors on neuropathic pain in CWP. Validated questionnaires (the London Fibromyalgia Screening Study questionnaire and PainDETECT questionnaire) were used to classify twins as having CWP and neuropathic pain, respectively. The prevalence of CWP was 14.7% (n = 4324), and of the 1357 twins invited to complete neuropathic pain screening, 15.9% of those having CWP demonstrated features of neuropathic pain. Neuropathic pain was found to be heritable (A = 37%; 95% confidence interval [CI]: 23%-50%) with unique environmental factors accounting for 63% (95% CI: 49%-79%) of the variance. Heritability of neuropathic pain and CWP were found to be correlated, 0.54 (95% CI: 0.42-0.65). Increasing age, raised body mass index, female gender, and smoking were all risk factors for neuropathic pain (P < 0.05), and CWP (P < 0.05). High socioeconomic status showed negative correlation with neuropathic pain (P = 0.003) and CWP (P = 0.001). Bivariate analysis of the 2 pain traits revealed that genetic predisposition to neuropathic pain is shared with that for CWP. This is the first study to provide formal heritability estimates for neuropathic pain in CWP. The findings suggest that at least some of the genetic factors underlying the development of neuropathic pain and CWP are the same.

  15. The genetic influences on oxycodone response characteristics in human experimental pain.

    PubMed

    Olesen, Anne E; Sato, Hiroe; Nielsen, Lecia M; Staahl, Camilla; Droney, Joanne; Gretton, Sophy; Branford, Ruth; Drewes, Asbjørn M; Arendt-Nielsen, Lars; Riley, Julia; Ross, Joy

    2015-08-01

    Human experimental pain studies are of value to study basic pain mechanisms under controlled conditions. The aim of this study was to investigate whether genetic variation across selected mu-, kappa- and delta-opioid receptor genes (OPRM1, OPRK1and OPRD1, respectively) influenced analgesic response to oxycodone in healthy volunteers. Experimental multimodal, multitissue pain data from previously published studies carried out in Caucasian volunteers were used. Data on thermal skin pain tolerance threshold (PTT) (n = 37), muscle pressure PTT (n = 31), mechanical visceral PTT (n = 43) and thermal visceral PTT (n = 41) were included. Genetic associations with pain outcomes were explored. Nineteen opioid receptor genetic polymorphisms were included in this study. Variability in oxycodone response to skin heat was associated with OPRM1 single-nucleotide polymorphisms (SNPs) rs589046 (P < 0.0001) and rs563649 (P < 0.0001). Variability in oxycodone response to visceral pressure was associated with four OPRM1 SNPs: rs589046 (P = 0.015), rs1799971 (P = 0.045), rs9479757 (P = 0.009) and rs533586 (P = 0.046). OPRM1 SNPs were not associated with oxycodone visceral heat threshold, however, one OPRD1 rs419335 reached significance (P = 0.015). Another OPRD1 SNP rs2234918 (P = 0.041) was associated with muscle pressure. There were no associations with OPRK1 SNPs and oxycodone response for any of the pain modalities. Associations were found between analgesic effects of oxycodone and OPRM1 and OPRD1 SNPs; therefore, variation in opioid receptor genes may partly explain responder characteristics to oxycodone.

  16. Neuropathic pain as part of chronic widespread pain: environmental and genetic influences

    PubMed Central

    Momi, Sukhleen K.; Fabiane, Stella Maris; Lachance, Genevieve; Livshits, Gregory; Williams, Frances M. K.

    2015-01-01

    Abstract Chronic widespread pain (CWP) has complex aetiology and forms part of the fibromyalgia syndrome. Recent evidence suggests a higher frequency of neuropathic pain features in those with CWP than previously thought. The aim of this study was to determine the prevalence of neuropathic pain features in individuals with CWP and to estimate the influence of genetic and environmental factors on neuropathic pain in CWP. Validated questionnaires (the London Fibromyalgia Screening Study questionnaire and PainDETECT questionnaire) were used to classify twins as having CWP and neuropathic pain, respectively. The prevalence of CWP was 14.7% (n = 4324), and of the 1357 twins invited to complete neuropathic pain screening, 15.9% of those having CWP demonstrated features of neuropathic pain. Neuropathic pain was found to be heritable (A = 37%; 95% confidence interval [CI]: 23%-50%) with unique environmental factors accounting for 63% (95% CI: 49%-79%) of the variance. Heritability of neuropathic pain and CWP were found to be correlated, 0.54 (95% CI: 0.42-0.65). Increasing age, raised body mass index, female gender, and smoking were all risk factors for neuropathic pain (P < 0.05), and CWP (P < 0.05). High socioeconomic status showed negative correlation with neuropathic pain (P = 0.003) and CWP (P = 0.001). Bivariate analysis of the 2 pain traits revealed that genetic predisposition to neuropathic pain is shared with that for CWP. This is the first study to provide formal heritability estimates for neuropathic pain in CWP. The findings suggest that at least some of the genetic factors underlying the development of neuropathic pain and CWP are the same. PMID:26121255

  17. Influence of XRCC1 Genetic Polymorphisms on Ionizing Radiation-Induced DNA Damage and Repair

    PubMed Central

    Sterpone, Silvia; Cozzi, Renata

    2010-01-01

    It is well known that ionizing radiation (IR) can damage DNA through a direct action, producing single- and double-strand breaks on DNA double helix, as well as an indirect effect by generating oxygen reactive species in the cells. Mammals have evolved several and distinct DNA repair pathways in order to maintain genomic stability and avoid tumour cell transformation. This review reports important data showing a huge interindividual variability on sensitivity to IR and in susceptibility to developing cancer; this variability is principally represented by genetic polymorphisms, that is, DNA repair gene polymorphisms. In particular we have focussed on single nucleotide polymorphisms (SNPs) of XRCC1, a gene that encodes for a scaffold protein involved basically in Base Excision Repair (BER). In this paper we have reported and presented recent studies that show an influence of XRCC1 variants on DNA repair capacity and susceptibility to breast cancer. PMID:20798883

  18. Genetic and Environmental Influences on Cortisol Regulation Across Days and Contexts in Middle-Aged Men

    PubMed Central

    York, Timothy P.; Eaves, Lindon J.; Mendoza, Sally P.; Hauger, Richard L.; Hellhammer, Dirk H.; Jacobson, Kristen C.; Levine, Seymour; Lupien, Sonia J.; Lyons, Michael J.; Prom-Wormley, Elizabeth; Xian, Hong; Kremen, William S.

    2010-01-01

    Cortisol is an indicator of hypothalamic–pituitary–adrenal axis responsivity to stress, but few twin studies have examined the heritability of cortisol concentrations in adults across the diurnal cycle and in different contexts. Saliva samples were provided by 783 middle-aged male twins on one laboratory and two home days as part of the Vietnam Era Twin Study of Aging. Significant cortisol heritability estimates were found for laboratory measures only: awakening (.56); 30 min after awakening (.48); 1000 h (.42); mean output across the day (.43); and mean cortisol awakening response (.64). Twin correlations at home were low. In the laboratory, they were unchanged for fraternal twins, but increased for identical twins. Greater measurement error at home did not appear to account for home-laboratory differences. The results suggest that genetic factors influence cortisol responses to specific environmental stressors. Thus, cortisol levels are correlated in identical twins only when they undergo similar experiences. PMID:20238238

  19. Influence of antibiotics used as feed additives on the immune effect of erysipelas live vaccine in swine.

    PubMed

    Yamamoto, K; Takagi, M; Endoh, Y S; Kijima, M; Takahashi, T

    2000-08-01

    To investigate the influence of antibiotics used as feed additives on the immune response to erysipelas live vaccine, the pig inoculation test was applied. Avilamycin, oxytetracycline quaternary salt, enramycin, virginiamycin and tylosin phosphate were selected as test antibiotics. Five experimental feeds containing each antibiotic at the highest concentration permitted for feed additives in Japan, and the basal diet lacking antibiotics were examined. Twenty-nine pigs were divided into six groups. At first all the groups were fed with the antibiotic-free basal diet for 7 days, and then each group received the experimental feeds. On the 14th day after feeding with test feeds all the pigs, except for one control pig in each group, were immunized with the vaccine and all the pigs were then challenge-exposed to a virulent strain of Erysipelothrix rhusiopathiae 14 days after vaccination. The clinical response was observed every day for 14 days. In all the groups, most of the vaccinated pigs did not develop any clinical signs of acute erysipelas after the challenge exposure, whereas non-vaccinated control pigs died or showed severe generalized erythema with profound depression and anorexia. No differences in the protection against the challenge exposure were observed among the groups. Therefore, the present results suggest that these selected antibiotics would not interfere with the immune effect of the vaccine if given at the usual concentrations used for feed additives.

  20. Genetic and epigenetic influences on expression of spermine synthase and spermine oxidase in suicide completers.

    PubMed

    Fiori, Laura M; Turecki, Gustavo

    2010-07-01

    Alterations in the levels of spermine synthase (SMS) and spermine oxidase (SMOX), two enzymes involved in polyamine metabolism, have previously been observed in brains of suicide completers. To characterize the roles played by genetic and epigenetic factors in determining expression levels of these genes, as well as to identify potential mechanisms by which to explain our findings in suicide completers, we (1) assessed the role of promoter polymorphisms in determining expression in the brain and in vitro, and (2) examined CpG methylation and levels of methylated histone H3 lysine-27 in the promoter regions of these genes in the prefrontal cortex of suicide completers and healthy controls. We identified several promoter haplotypes in SMS and SMOX, but found no consistent effects of haplotype on expression levels in either the brain or in reporter gene assays performed in three different cell lines. We also found no overall effects of epigenetic factors in determining expression, with the exception of a relationship between CpG methylation at one site in the promoter of SMOX and its expression in Brodmann area 8/9. In conclusion, the genetic and epigenetic factors examined in this study show little influence on the expression levels of SMS and SMOX, and do not appear to be responsible for the dysregulated expression of these genes in suicide completers.

  1. Genetic and environmental influences on girls' and boys' gender-typed and gender-neutral values.

    PubMed

    Knafo, Ariel; Spinath, Frank M

    2011-05-01

    In this first investigation of genetic and environmental influences on children's values, 271 German twin pairs (50.2% boys) reported their values at ages 7-11 years using the Portrait Values Questionnaire (Schwartz & Rubel, 2005). We distinguished between gender-neutral (conservation vs. openness to change) and gender-typed (self-transcendence vs. self-enhancement) values. Boys differed from girls in the importance given to gender-typed benevolence, achievement, and power values. Gender-neutral values showed moderate (.34) and gender-typed values showed higher (.49) heritability, with nonshared environment and error accounting for the remaining variance. For both sexes, substantial genetic effects accounted for the importance children gave to their respective gender-stereotypical end of the self-transcendence versus self-enhancement dimension. However, dramatic sex differences emerged in the gender-atypical end of the distribution. For girls, low self-transcendence (high gender-atypical values) showed a large (.76) group heritability. For boys, gender-atypical values (high self-transcendence) showed no heritability and a modest (.10) shared environment effect.

  2. Environmental and Genetic Influences of Archaeal Lipid Distribution in Natural and Artificial Marine Environments

    NASA Astrophysics Data System (ADS)

    Warren, C.; Pagani, M.

    2012-12-01

    TEX86 is a proxy of sea surface temperature based on refractory glycerol dibiphytanyl glycerol tetraethers (GDGT) in the cell membranes of low-temperature dwelling (non-hyperthermophilic) Archaea. The degree to which environmental signals other than temperature influence the distribution of GDGT compounds is poorly understood. Few representatives of the Thaumarchaeota — the clade to which the dominant GDGT production has been attributed — have been described or isolated in pure culture, and the role of genetic lineage in the synthesis and distribution of GDGTs is unknown. For this project we collected water, filter and substrate samples from tank systems in non-profit and commercial aquariums around the United States. This analysis compares GDGT core lipids and intact polar lipid distributions with Archaeal genetic sequence data processed using rRNA and 454 Pyrosequencing. Environmental attributes (such as dissolved oxygen concentration, salinity, organic density, etc.) specific to each tank are also compared to lipid analyses and the presence of specific lineages within select tank systems. Our preliminary results demonstrate that archaeal GDGTs are present and abundant within a range of environmental conditions, including artificial saline and brackish waters derived from municipal sources. Comparisons of existing TEX86 calibration values with known temperatures suggest that residuals vary based on non-temperature parameters. Branched compounds are absent in most aquarium systems, but dominate in systems prepared with municipal water.

  3. Genetic Influences on Plasma Homocysteine Levels in African Americans and Yoruba Nigerians.

    PubMed

    Kim, Sungeun; Nho, Kwangsik; Ramanan, Vijay K; Lai, Dongbing; Foroud, Tatiana M; Lane, Katie; Murrell, Jill R; Gao, Sujuan; Hall, Kathleen S; Unverzagt, Frederick W; Baiyewu, Olusegun; Ogunniyi, Adesola; Gureje, Oye; Kling, Mitchel A; Doraiswamy, P Murali; Kaddurah-Daouk, Rima; Hendrie, Hugh C; Saykin, Andrew J

    2016-01-01

    Plasma homocysteine, a metabolite involved in key cellular methylation processes seems to be implicated in cognitive functions and cardiovascular health with its high levels representing a potential modifiable risk factor for Alzheimer's disease (AD) and other dementias. A better understanding of the genetic factors regulating homocysteine levels, particularly in non-white populations, may help in risk stratification analyses of existing clinical trials and may point to novel targets for homocysteine-lowering therapy. To identify genetic influences on plasma homocysteine levels in individuals with African ancestry, we performed a targeted gene and pathway-based analysis using a priori biological information and then to identify new association performed a genome-wide association study. All analyses used combined data from the African American and Yoruba cohorts from the Indianapolis-Ibadan Dementia Project. Targeted analyses demonstrated significant associations of homocysteine and variants within the CBS (Cystathionine beta-Synthase) gene. We identified a novel genome-wide significant association of the AD risk gene CD2AP (CD2-associated protein) with plasma homocysteine levels in both cohorts. Minor allele (T) carriers of identified CD2AP variant (rs6940729) exhibited decreased homocysteine level. Pathway enrichment analysis identified several interesting pathways including the GABA receptor activation pathway. This is noteworthy given the known antagonistic effect of homocysteine on GABA receptors. These findings identify several new targets warranting further investigation in relation to the role of homocysteine in neurodegeneration.

  4. Landscape genetics of fishers (Martes pennanti) in the Northeast: dispersal barriers and historical influences.

    PubMed

    Hapeman, Paul; Latch, Emily K; Fike, Jennifer A; Rhodes, Olin E; Kilpatrick, C William

    2011-01-01

    Habitat fragmentation and overtrapping are thought to have resulted in severe population declines for fisher (Martes pennanti) across the northeastern United States, and by the end of the 1930s only 3 remnant populations remained. Subsequent trapping cessation, extensive reintroduction programs, and natural recolonization have helped fishers to reclaim much of their historical range. The degree to which these processes have impacted genetic structure in this species, however, remains unknown. We used 11 microsatellites from tissue samples (n = 432) of fishers to characterize contemporary population structure in light of historical population structure and thus to determine the relative influence of anthropogenic disturbances and natural landscape features in shaping genetic structure of the contemporary population. Our results indicated that 3 well-differentiated contemporary populations are present that correspond well with what would be expected based on their reported history. A course barrier to dispersal appears in the western portion of the study area associated with several lakes including Lake George and Great Sacandaga Lake. Large-scale reintroduction efforts and natural recolonizations have largely had predictable impacts on population structure. An important exception is the substantial impact of the reintroduction of fishers to Vermont.

  5. Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994

    PubMed Central

    Jelenkovic, Aline; Hur, Yoon-Mi; Sund, Reijo; Yokoyama, Yoshie; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Rijsdijk, Fruhling; Tan, Qihua; Zhang, Dongfeng; Pang, Zengchang; Aaltonen, Sari; Heikkilä, Kauko; Öncel, Sevgi Y; Aliev, Fazil; Rebato, Esther; Tarnoki, Adam D; Tarnoki, David L; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; Sung, Joohon; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Franz, Carol E; Kremen, William S; Lyons, Michael J; Busjahn, Andreas; Nelson, Tracy L; Whitfield, Keith E; Kandler, Christian; Jang, Kerry L; Gatz, Margaret; Butler, David A; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Duncan, Glen E; Buchwald, Dedra; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth JF; Martin, Nicholas G; Medland, Sarah E; Montgomery, Grant W; Jeong, Hoe-Uk; Swan, Gary E; Krasnow, Ruth; Magnusson, Patrik KE; Pedersen, Nancy L; Dahl-Aslan, Anna K; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Tynelius, Per; Baker, Laura A; Tuvblad, Catherine; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Lichtenstein, Paul; Spector, Timothy D; Mangino, Massimo; Lachance, Genevieve; Bartels, Meike; van Beijsterveldt, Toos CEM; Willemsen, Gonneke; Burt, S Alexandra; Klump, Kelly L; Harris, Jennifer R; Brandt, Ingunn; Nilsen, Thomas Sevenius; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Corley, Robin P; Hjelmborg, Jacob v B; Goldberg, Jack H; Iwatani, Yoshinori; Watanabe, Mikio; Honda, Chika; Inui, Fujio; Rasmussen, Finn; Huibregtse, Brooke M; Boomsma, Dorret I; Sørensen, Thorkild I A; Kaprio, Jaakko; Silventoinen, Karri

    2016-01-01

    Human height variation is determined by genetic and environmental factors, but it remains unclear whether their influences differ across birth-year cohorts. We conducted an individual-based pooled analysis of 40 twin cohorts including 143,390 complete twin pairs born 1886–1994. Although genetic variance showed a generally increasing trend across the birth-year cohorts, heritability estimates (0.69-0.84 in men and 0.53-0.78 in women) did not present any clear pattern of secular changes. Comparing geographic-cultural regions (Europe, North America and Australia, and East Asia), total height variance was greatest in North America and Australia and lowest in East Asia, but no clear pattern in the heritability estimates across the birth-year cohorts emerged. Our findings do not support the hypothesis that heritability of height is lower in populations with low living standards than in affluent populations, nor that heritability of height will increase within a population as living standards improve. DOI: http://dx.doi.org/10.7554/eLife.20320.001 PMID:27964777

  6. Detection and interpretation of shared genetic influences on 42 human traits

    PubMed Central

    Pickrell, Joseph K.; Berisa, Tomaz; Liu, Jimmy Z.; Segurel, Laure; Tung, Joyce Y.; Hinds, David

    2016-01-01

    We performed a scan for genetic variants associated with multiple phenotypes by comparing large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 loci (at an FDR of 10%) associated with multiple traits. Several loci are associated with a large number of phenotypes; for example, a nonsynonymous variant in the zinc transporter SLC39A8 influences seven of these traits, including risk of schizophrenia (rs13107325: log-odds ratio = 0.15, P = 2 × 10−12) and Parkinson's disease (log-odds ratio = −0.15, P = 1.6 × 10−7), among others. Second, we used these loci to identify traits that share multiple genetic causes in common. For example, variants that increase risk of schizophrenia also tend to increase risk of inflammatory bowel disease. Finally, we developed a method to identify pairs of traits that show evidence of a causal relationship. For example, we show evidence that increased BMI causally increases triglyceride levels. PMID:27182965

  7. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

    PubMed

    Ehret, Georg B; Munroe, Patricia B; Rice, Kenneth M; Bochud, Murielle; Johnson, Andrew D; Chasman, Daniel I; Smith, Albert V; Tobin, Martin D; Verwoert, Germaine C; Hwang, Shih-Jen; Pihur, Vasyl; Vollenweider, Peter; O'Reilly, Paul F; Amin, Najaf; Bragg-Gresham, Jennifer L; Teumer, Alexander; Glazer, Nicole L; Launer, Lenore; Zhao, Jing Hua; Aulchenko, Yurii; Heath, Simon; Sõber, Siim; Parsa, Afshin; Luan, Jian'an; Arora, Pankaj; Dehghan, Abbas; Zhang, Feng; Lucas, Gavin; Hicks, Andrew A; Jackson, Anne U; Peden, John F; Tanaka, Toshiko; Wild, Sarah H; Rudan, Igor; Igl, Wilmar; Milaneschi, Yuri; Parker, Alex N; Fava, Cristiano; Chambers, John C; Fox, Ervin R; Kumari, Meena; Go, Min Jin; van der Harst, Pim; Kao, Wen Hong Linda; Sjögren, Marketa; Vinay, D G; Alexander, Myriam; Tabara, Yasuharu; Shaw-Hawkins, Sue; Whincup, Peter H; Liu, Yongmei; Shi, Gang; Kuusisto, Johanna; Tayo, Bamidele; Seielstad, Mark; Sim, Xueling; Nguyen, Khanh-Dung Hoang; Lehtimäki, Terho; Matullo, Giuseppe; Wu, Ying; Gaunt, Tom R; Onland-Moret, N Charlotte; Cooper, Matthew N; Platou, Carl G P; Org, Elin; Hardy, Rebecca; Dahgam, Santosh; Palmen, Jutta; Vitart, Veronique; Braund, Peter S; Kuznetsova, Tatiana; Uiterwaal, Cuno S P M; Adeyemo, Adebowale; Palmas, Walter; Campbell, Harry; Ludwig, Barbara; Tomaszewski, Maciej; Tzoulaki, Ioanna; Palmer, Nicholette D; Aspelund, Thor; Garcia, Melissa; Chang, Yen-Pei C; O'Connell, Jeffrey R; Steinle, Nanette I; Grobbee, Diederick E; Arking, Dan E; Kardia, Sharon L; Morrison, Alanna C; Hernandez, Dena; Najjar, Samer; McArdle, Wendy L; Hadley, David; Brown, Morris J; Connell, John M; Hingorani, Aroon D; Day, Ian N M; Lawlor, Debbie A; Beilby, John P; Lawrence, Robert W; Clarke, Robert; Hopewell, Jemma C; Ongen, Halit; Dreisbach, Albert W; Li, Yali; Young, J Hunter; Bis, Joshua C; Kähönen, Mika; Viikari, Jorma; Adair, Linda S; Lee, Nanette R; Chen, Ming-Huei; Olden, Matthias; Pattaro, Cristian; Bolton, Judith A Hoffman; Köttgen, Anna; Bergmann, Sven; Mooser, Vincent; Chaturvedi, Nish; Frayling, Timothy M; Islam, Muhammad; Jafar, Tazeen H; Erdmann, Jeanette; Kulkarni, Smita R; Bornstein, Stefan R; Grässler, Jürgen; Groop, Leif; Voight, Benjamin F; Kettunen, Johannes; Howard, Philip; Taylor, Andrew; Guarrera, Simonetta; Ricceri, Fulvio; Emilsson, Valur; Plump, Andrew; Barroso, Inês; Khaw, Kay-Tee; Weder, Alan B; Hunt, Steven C; Sun, Yan V; Bergman, Richard N; Collins, Francis S; Bonnycastle, Lori L; Scott, Laura J; Stringham, Heather M; Peltonen, Leena; Perola, Markus; Vartiainen, Erkki; Brand, Stefan-Martin; Staessen, Jan A; Wang, Thomas J; Burton, Paul R; Soler Artigas, Maria; Dong, Yanbin; Snieder, Harold; Wang, Xiaoling; Zhu, Haidong; Lohman, Kurt K; Rudock, Megan E; Heckbert, Susan R; Smith, Nicholas L; Wiggins, Kerri L; Doumatey, Ayo; Shriner, Daniel; Veldre, Gudrun; Viigimaa, Margus; Kinra, Sanjay; Prabhakaran, Dorairaj; Tripathy, Vikal; Langefeld, Carl D; Rosengren, Annika; Thelle, Dag S; Corsi, Anna Maria; Singleton, Andrew; Forrester, Terrence; Hilton, Gina; McKenzie, Colin A; Salako, Tunde; Iwai, Naoharu; Kita, Yoshikuni; Ogihara, Toshio; Ohkubo, Takayoshi; Okamura, Tomonori; Ueshima, Hirotsugu; Umemura, Satoshi; Eyheramendy, Susana; Meitinger, Thomas; Wichmann, H-Erich; Cho, Yoon Shin; Kim, Hyung-Lae; Lee, Jong-Young; Scott, James; Sehmi, Joban S; Zhang, Weihua; Hedblad, Bo; Nilsson, Peter; Smith, George Davey; Wong, Andrew; Narisu, Narisu; Stančáková, Alena; Raffel, Leslie J; Yao, Jie; Kathiresan, Sekar; O'Donnell, Christopher J; Schwartz, Stephen M; Ikram, M Arfan; Longstreth, W T; Mosley, Thomas H; Seshadri, Sudha; Shrine, Nick R G; Wain, Louise V; Morken, Mario A; Swift, Amy J; Laitinen, Jaana; Prokopenko, Inga; Zitting, Paavo; Cooper, Jackie A; Humphries, Steve E; Danesh, John; Rasheed, Asif; Goel, Anuj; Hamsten, Anders; Watkins, Hugh; Bakker, Stephan J L; van Gilst, Wiek H; Janipalli, Charles S; Mani, K Radha; Yajnik, Chittaranjan S; Hofman, Albert; Mattace-Raso, Francesco U S; Oostra, Ben A; Demirkan, Ayse; Isaacs, Aaron; Rivadeneira, Fernando; Lakatta, Edward G; Orru, Marco; Scuteri, Angelo; Ala-Korpela, Mika; Kangas, Antti J; Lyytikäinen, Leo-Pekka; Soininen, Pasi; Tukiainen, Taru; Würtz, Peter; Ong, Rick Twee-Hee; Dörr, Marcus; Kroemer, Heyo K; Völker, Uwe; Völzke, Henry; Galan, Pilar; Hercberg, Serge; Lathrop, Mark; Zelenika, Diana; Deloukas, Panos; Mangino, Massimo; Spector, Tim D; Zhai, Guangju; Meschia, James F; Nalls, Michael A; Sharma, Pankaj; Terzic, Janos; Kumar, M V Kranthi; Denniff, Matthew; Zukowska-Szczechowska, Ewa; Wagenknecht, Lynne E; Fowkes, F Gerald R; Charchar, Fadi J; Schwarz, Peter E H; Hayward, Caroline; Guo, Xiuqing; Rotimi, Charles; Bots, Michiel L; Brand, Eva; Samani, Nilesh J; Polasek, Ozren; Talmud, Philippa J; Nyberg, Fredrik; Kuh, Diana; Laan, Maris; Hveem, Kristian; Palmer, Lyle J; van der Schouw, Yvonne T; Casas, Juan P; Mohlke, Karen L; Vineis, Paolo; Raitakari, Olli; Ganesh, Santhi K; Wong, Tien Y; Tai, E Shyong; Cooper, Richard S; Laakso, Markku; Rao, Dabeeru C; Harris, Tamara B; Morris, Richard W; Dominiczak, Anna F; Kivimaki, Mika; Marmot, Michael G; Miki, Tetsuro; Saleheen, Danish; Chandak, Giriraj R; Coresh, Josef; Navis, Gerjan; Salomaa, Veikko; Han, Bok-Ghee; Zhu, Xiaofeng; Kooner, Jaspal S; Melander, Olle; Ridker, Paul M; Bandinelli, Stefania; Gyllensten, Ulf B; Wright, Alan F; Wilson, James F; Ferrucci, Luigi; Farrall, Martin; Tuomilehto, Jaakko; Pramstaller, Peter P; Elosua, Roberto; Soranzo, Nicole; Sijbrands, Eric J G; Altshuler, David; Loos, Ruth J F; Shuldiner, Alan R; Gieger, Christian; Meneton, Pierre; Uitterlinden, Andre G; Wareham, Nicholas J; Gudnason, Vilmundur; Rotter, Jerome I; Rettig, Rainer; Uda, Manuela; Strachan, David P; Witteman, Jacqueline C M; Hartikainen, Anna-Liisa; Beckmann, Jacques S; Boerwinkle, Eric; Vasan, Ramachandran S; Boehnke, Michael; Larson, Martin G; Järvelin, Marjo-Riitta; Psaty, Bruce M; Abecasis, Gonçalo R; Chakravarti, Aravinda; Elliott, Paul; van Duijn, Cornelia M; Newton-Cheh, Christopher; Levy, Daniel; Caulfield, Mark J; Johnson, Toby

    2011-09-11

    Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or  ≥90 mm Hg diastolic blood pressure). Even small increments in blood pressure are associated with an increased risk of cardiovascular events. This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function. We also observed associations with blood pressure in East Asian, South Asian and African ancestry individuals. Our findings provide new insights into the genetics and biology of blood pressure, and suggest potential novel therapeutic pathways for cardiovascular disease prevention.

  8. Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk

    PubMed Central

    2011-01-01

    Blood pressure (BP) is a heritable trait1 influenced by multiple biological pathways and is responsive to environmental stimuli. Over one billion people worldwide have hypertension (BP ≥140 mm Hg systolic [SBP] or ≥90 mm Hg diastolic [DBP])2. Even small increments in BP are associated with increased risk of cardiovascular events3. This genome-wide association study of SBP and DBP, which used a multi-stage design in 200,000 individuals of European descent, identified 16 novel loci: six of these loci contain genes previously known or suspected to regulate BP (GUCY1A3-GUCY1B3; NPR3-C5orf23; ADM; FURIN-FES; GOSR2; GNAS-EDN3); the other 10 provide new clues to BP physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke, and coronary artery disease, but not kidney disease or kidney function. We also observed associations with BP in East Asian, South Asian, and African ancestry individuals. Our findings provide new insights into the genetics and biology of BP, and suggest novel potential therapeutic pathways for cardiovascular disease prevention. PMID:21909115

  9. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The genus Capsicum represents one of several well characterized Solanaceous genera. A wealth of classical and molecular genetics research is available for the genus. Information gleaned from its cultivated relatives, tomato and potato, provide further insight for basic and applied studies. Early ...

  10. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Maintaining genetic variation in wild populations of Arctic organisms is fundamental to the long-term persistence of high latitude biodiversity. Variability is important because it provides options for species to respond to changing environmental conditions and novel challenges such as emerging path...

  11. Genetic and nutritional deficiencies in folate metabolism influence tumorigenicity in Apcmin/+ mice.

    PubMed

    Lawrance, Andrea K; Deng, Liyuan; Brody, Lawrence C; Finnell, Richard H; Shane, Barry; Rozen, Rima

    2007-05-01

    Epidemiological studies indicate that adequate dietary folate is protective against colon cancer, although mechanisms remain largely elusive. We investigated the effects of genetic disruptions of folate transport and metabolism and of dietary folate deficiency in a mouse model of colon cancer, the Apc(min/+) mouse. Apc(min/+) mice with heterozygous knockout of the gene for reduced folate carrier 1 (Rfc1(+/-)) developed significantly fewer adenomas compared to Rfc1(+/+)Apc(min/+) mice [30.3+/-4.6 vs. 60.4+/-9.4 on a control diet (CD) and 42.6+/-4.4 vs. 55.8+/-7.6 on a folate-deficient diet, respectively]. Rfc1(+/-)Apc(min/+) mice also carried a lower tumor load, an indicator of tumor size as well as of tumor number. In contrast, there were no differences in adenoma formation between Apc(min/+) mice carrying a knockout allele for methionine synthase (Mtr(+/-)), an enzyme that catalyzes folate-dependent homocysteine remethylation, and Mtr(+/+)Apc(min/+) mice. However, in both Mtr groups of mice, dietary folate deficiency significantly increased adenoma number (from 32.3+/-3.8 on a CD to 48.1+/-4.2 on a folate-deficient diet), increased plasma homocysteine, decreased global DNA methylation in preneoplastic intestines and increased apoptosis in tissues. There were no genotype-associated differences in these parameters in the Rfc1 group, suggesting that the protection conferred by Rfc1 deficiency is carried out through a different mechanism. In conclusion, genetic and nutritional disturbances in folate metabolism can have distinct influences on tumorigenesis in Apc(min/+) mice; altered levels of homocysteine, global DNA methylation and apoptosis may contribute mechanistically to dietary influence.

  12. Case-control study of genetic and environmental influences on premature death of adult adoptees.

    PubMed

    Petersen, Liselotte; Nielsen, Gert G; Andersen, Per Kragh; Sørensen, Thorkild I A

    2002-08-01

    Genetic and environmental influence on risk of premature death in adulthood was investigated by estimating the associations in total and cause-specific mortality of adult Danish adoptees and their biological and adoptive parents. Among all 14,427 nonfamilial adoptions formally granted in Denmark during the period 1923 through 1947, we identified 976 case families in which the adoptee died before a fixed date. As control families, we selected 976 families where the adoptees were alive on that date, and matched to the case adoptees with regard to gender and year and month of birth. The data were viewed as a cohort of case parents and a cohort of control parents, and lifetime distributions in the two cohorts were compared using a Cox regression, stratified with regard to the matching variables: gender and year of birth. In the main analyses, the sample was restricted with regard to birth year of the adoptees, and age of transfer to the adoptive parents, and age at death was restricted to the same range for parents and offspring (25-64 years) in order to consider a symmetric lifetime distribution. This reduces the sample to 459 case families and 738 control families. Various truncations, restrictions, and stratifications were used in order to examine the robustness of the results. The results showed a higher mortality among biological parents who had children dying in the age range 25 through 64 years, and this was significant for death from natural causes, infectious causes, vascular causes, and from all causes combined. There were no significant effects for the adoptive parents. This study supports that there are moderate genetic influences on the risk of dying prematurely in adulthood, and only a small, if any, effect of the family environment.

  13. Genetic and environmental influences on BMI from late childhood to adolescence are modified by parental education.

    PubMed

    Lajunen, Hanna-Reetta; Kaprio, Jaakko; Rose, Richard J; Pulkkinen, Lea; Silventoinen, Karri

    2012-03-01

    To investigate how parental education modifies genetic and environmental influences on variation in BMI during adolescence, self-reported BMI at 11-12, 14, and 17 years of age was collected from a population sample of 2,432 complete Finnish twin pairs born in 1983-1987. Based on parental report, twins were divided to those with high (both parents high school graduates), mixed level (one parent a graduate, the other not), and limited (neither parent a graduate) parental education. Genetic and environmental influences on variation in BMI in different education classes were modeled using twin analysis. Heritability of BMI among 11-12-year-olds with high parental education was 85-87% whereas it was 61-68% if parental education was limited or mixed level. Common environmental effect, i.e., effect of environmental factors shared by family members, was found (17-22%) if parental education was limited or mixed level but not if it was high. With increasing parental education, common environmental variance in BMI decreased at age 14 among boys (from 22 to 3%) and girls (from 17 to 10%); heritability increased among boys from 63 to 78%, but did not change among girls. The common environmental component disappeared and heritability of BMI was larger at the age of 17 in all parental education classes. To conclude, common environment did not affect variation of adolescent BMI in high-educated families but did so in families with limited parental education. This suggests that intervention and prevention campaigns could effectively target families identified by limited parental education.

  14. Genetic influences on response to novel objects and dimensions of personality in Papio baboons.

    PubMed

    Johnson, Zachary; Brent, Linda; Alvarenga, Juan Carlos; Comuzzie, Anthony G; Shelledy, Wendy; Ramirez, Stephanie; Cox, Laura; Mahaney, Michael C; Huang, Yung-Yu; Mann, J John; Kaplan, Jay R; Rogers, Jeffrey

    2015-03-01

    Behavioral variation within and between populations and species of the genus Papio has been studied extensively, but little is known about the genetic causes of individual- or population-level differences. This study investigates the influence of genetic variation on personality (sometimes referred to as temperament) in baboons and identifies a candidate gene partially responsible for the variation in that phenotype. To accomplish these goals, we examined individual variation in response to both novel objects and an apparent novel social partner (using a mirror test) among pedigreed baboons (n = 578) from the Southwest National Primate Research Center. We investigated the frequency and duration of individual behaviors in response to novel objects and used multivariate factor analysis to identify trait-like dimensions of personality. Exploratory factor analysis identified two distinct dimensions of personality within this population. Factor 1 accounts for 46.8 % of the variance within the behavioral matrix, and consists primarily of behaviors related to the "boldness" of the subject. Factor 2 accounts for 18.8 % of the variation, and contains several "anxiety" like behaviors. Several specific behaviors, and the two personality factors, were significantly heritable, with the factors showing higher heritability than most individual behaviors. Subsequent analyses show that the behavioral reactions observed in the test protocol are associated with animals' social behavior observed later in their home social groups. Finally we used linkage analysis to map quantitative trait loci for the measured phenotypes. Single nucleotide polymorphisms in a positional candidate gene (SNAP25) are associated with variation in one of the personality factors, and CSF levels of homovanillic acid and 3-methoxy-4-hydroxyphenylglycol. This study documents heritable variation in personality among baboons and suggests that sequence variation in SNAP25 may influence differences in behavior and

  15. Addition of pasture plant essential oil in milk: influence on chemical and sensory properties of milk and cheese.

    PubMed

    Tornambé, G; Cornu, A; Verdier-Metz, I; Pradel, P; Kondjoyan, N; Figueredo, G; Hulin, S; Martin, B

    2008-01-01

    The aim of this experiment was to study the effect of the addition, to milk, of an essential oil (EO) obtained from the hydrodistillation of plants collected from a mountain natural pasture on the milk and cheese sensory properties. The EO was mainly composed of terpenoid compounds (67 of the 95 compounds identified) as well as ketones, aldehydes, alcohols, esters, alkanes, and benzenic compounds. In milk, the addition of this EO at the concentration of 0.1 microL/L did not influence its sensory properties, whereas at 1.0 microL/L, sensory properties were modified. In cheeses, the effect of adding EO into milk was studied in an experimental dairy plant allowing the production of small Cantal-type cheeses (10 kg) in 3 vats processed in parallel. The control (C) vat contained 110 L of raw milk; in the other 2 vats, 0.1 microL/L (EO1) or 3.0 microL/L (EO30) of EO were added to 110 L of the same milk. Six replicates were performed. After 5 mo of ripening, chemical and sensory analyses were carried out on the cheeses, including determination of the volatile compounds by dynamic headspace combined with gas chromatography-mass spectrometry. The EO did not influence the sensory properties of the cheeses at the lower concentration (EO1). However, the EO30 cheeses had a more intense odor and aroma, both characterized as "mint/chlorophyll" and "thyme/oregano." These unusual odors and aromas originated directly from the EO added. In total, 152 compounds desorbing from cheese were found, of which 41 had been added with the EO; in contrast, 54 compounds of the EO were not recovered in the cheese. Few volatile compounds desorbing from cheeses, other than the added compounds, were affected by EO addition. Among them, 2-butanol, propanol, and 3-heptanone suggested a slight effect of the EO on lipid catabolism. The antimicrobial activity of terpenes is not or is only marginally involved in the explanation of the influence of the botanical composition of the meadows on the pressed

  16. Plants with genetically modified events combined by conventional breeding: an assessment of the need for additional regulatory data.

    PubMed

    Pilacinski, W; Crawford, A; Downey, R; Harvey, B; Huber, S; Hunst, P; Lahman, L K; MacIntosh, S; Pohl, M; Rickard, C; Tagliani, L; Weber, N

    2011-01-01

    Crop varieties with multiple GM events combined by conventional breeding have become important in global agriculture. The regulatory requirements in different countries for such products vary considerably, placing an additional burden on regulatory agencies in countries where the submission of additional data is required and delaying the introduction of innovative products to meet agricultural needs. The process of conventional plant breeding has predictably provided safe food and feed products both historically and in the modern era of plant breeding. Thus, previously approved GM events that have been combined by conventional plant breeding and contain GM traits that are not likely to interact in a manner affecting safety should be considered to be as safe as their conventional counterparts. Such combined GM event crop varieties should require little, if any, additional regulatory data to meet regulatory requirements.

  17. Contextual influences on implicit evaluation: a test of additive versus contrastive effects of evaluative context stimuli in affective priming.

    PubMed

    Gawronski, Bertram; Deutsch, Roland; Seidel, Oliver

    2005-09-01

    Drawing on two alternative accounts of the affective priming effect (spreading activation vs. response interference), the present research investigated the underlying processes of how evaluative context stimuli influence implicit evaluations in the affective priming task. Employing two sequentially presented prime stimuli (rather than a single prime), two experiments showed that affective priming effects elicited by a given prime stimulus were more pronounced when this stimulus was preceded by a context prime of the opposite valence than when it was preceded by a context prime of the same valence. This effect consistently emerged for pictures (Experiment 1) and words (Experiment 2) as prime stimuli. These results suggest that the impact of evaluative context stimuli on implicit evaluations is mediated by contrast effects in the attention to evaluative information rather than by additive effects in the activation of evaluative information in associative memory.

  18. Influence of Addition of Nb on Phase Transformation, Microstructure and Mechanical Properties of Equiatomic NiTi SMA

    NASA Astrophysics Data System (ADS)

    Jiang, Shuyong; Liang, Yulong; Zhang, Yanqiu; Zhao, Yanan; Zhao, Chengzhi

    2016-10-01

    Three novel NiTiNb shape memory alloys, which possess a nominal chemical composition of Ni50- x/2-Ti50- x/2-Nb x (at.%) where x stands for 2, 4 and 6, respectively, were designed in order to investigate the influence of the addition of Nb on phase transformation, microstructure and mechanical properties of equiatomic NiTi shape memory alloy. All the three NiTiNb shape memory alloys contain B2 austenite phase, B19' martensite phase and β-Nb precipitate phase. Martensite type II twin can be observed in the case of Ni49Ti49Nb2 alloy. In the case of Ni48Ti48Nb4 alloy, there exists a boundary between Ti2Ni precipitate phase and β-Nb precipitate phase. As for Ni47Ti47Nb6 alloy, it can be observed that there exists an orientation relationship of [01bar{1}]_{{β{{ - Nb}}}} //[01bar{1}]_{{B2}} between β-Nb precipitate phase and B2 austenite matrix. The increase in Nb content contributes to enhancing the yield stress of NiTiNb shape memory alloy, but it leads to the decrease in compression fracture stress. The addition of Nb to equiatomic NiTi shape memory alloy does not have a significant influence on the transformation hysteresis of the alloy, which is attributed to the fact that NiTiNb shape memory alloy is not subjected to plastic deformation and hence β-Nb precipitate phase is unable to relax the elastic strain in the martensite interface.

  19. Conceptual and data-based investigation of genetic influences and brain asymmetry: a twin study of multiple structural phenotypes.

    PubMed

    Eyler, Lisa T; Vuoksimaa, Eero; Panizzon, Matthew S; Fennema-Notestine, Christine; Neale, Michael C; Chen, Chi-Hua; Jak, Amy; Franz, Carol E; Lyons, Michael J; Thompson, Wesley K; Spoon, Kelly M; Fischl, Bruce; Dale, Anders M; Kremen, William S

    2014-05-01

    Right-left regional cerebral differences are a feature of the human brain linked to functional abilities, aging, and neurodevelopmental and mental disorders. The role of genetic factors in structural asymmetry has been incompletely studied. We analyzed data from 515 individuals (130 monozygotic twin pairs, 97 dizygotic pairs, and 61 unpaired twins) from the Vietnam Era Twin Study of Aging to answer three questions about genetic determinants of brain structural asymmetry: First, does the magnitude of heritability differ for homologous regions in each hemisphere? Despite adequate power to detect regional differences, heritability estimates were not significantly larger in one hemisphere versus the other, except left > right inferior lateral ventricle heritability. Second, do different genetic factors influence left and right hemisphere size in homologous regions? Interhemispheric genetic correlations were high and significant; in only two subcortical regions (pallidum and accumbens) did the estimate statistically differ from 1.0. Thus, there was little evidence for different genetic influences on left and right hemisphere regions. Third, to what extent do genetic factors influence variability in left-right size differences? There was no evidence that variation in asymmetry (i.e., the size difference) of left and right homologous regions was genetically determined, except in pallidum and accumbens. Our findings suggest that genetic factors do not play a significant role in determining individual variation in the degree of regional cortical size asymmetries measured with MRI, although they may do so for volume of some subcortical structures. Despite varying interpretations of existing data, we view the present results as consistent with previous findings.

  20. Do intrauterine or genetic influences explain the foetal origins of chronic disease? A novel experimental method for disentangling effects

    PubMed Central

    Thapar, Anita; Harold, Gordon; Rice, Frances; Ge, XiaoJia; Boivin, Jacky; Hay, Dale; van den Bree, Marianne; Lewis, Allyson

    2007-01-01

    Background There is much evidence to suggest that risk for common clinical disorders begins in foetal life. Exposure to environmental risk factors however is often not random. Many commonly used indices of prenatal adversity (e.g. maternal gestational stress, gestational diabetes, smoking in pregnancy) are influenced by maternal genes and genetically influenced maternal behaviour. As mother provides the baby with both genes and prenatal environment, associations between prenatal risk factors and offspring disease maybe attributable to true prenatal risk effects or to the "confounding" effects of genetic liability that are shared by mother and offspring. Cross-fostering designs, including those that involve embryo transfer have proved useful in animal studies. However disentangling these effects in humans poses significant problems for traditional genetic epidemiological research designs. Methods We present a novel research strategy aimed at disentangling maternally provided pre-natal environmental and inherited genetic effects. Families of children aged 5 to 9 years born by assisted reproductive technologies, specifically homologous IVF, sperm donation, egg donation, embryo donation and gestational surrogacy were contacted through fertility clinics and mailed a package of questionnaires on health and mental health related risk factors and outcomes. Further data were obtained from antenatal records. Results To date 741 families from 18 fertility clinics have participated. The degree of association between maternally provided prenatal risk factor and child outcome in the group of families where the woman undergoing pregnancy and offspring are genetically related (homologous IVF, sperm donation) is compared to association in the group where offspring are genetically unrelated to the woman who undergoes the pregnancy (egg donation, embryo donation, surrogacy). These comparisons can be then examined to infer the extent to which prenatal effects are genetically and

  1. Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study

    PubMed Central

    2010-01-01

    Background Hypertriglyceridemia (HTG) is a well-established independent risk factor for cardiovascular disease and the influence of several genetic variants in genes related with triglyceride (TG) metabolism has been described, including LPL, APOA5 and APOE. The combined analysis of these polymorphisms could produce clinically meaningful complementary information. Methods A subgroup of the ICARIA study comprising 1825 Spanish subjects (80% men, mean age 36 years) was genotyped for the LPL-HindIII (rs320), S447X (rs328), D9N (rs1801177) and N291S (rs268) polymorphisms, the APOA5-S19W (rs3135506) and -1131T/C (rs662799) variants, and the APOE polymorphism (rs429358; rs7412) using PCR and restriction analysis and TaqMan assays. We used regression analyses to examine their combined effects on TG levels (with the log-transformed variable) and the association of variant combinations with TG levels and hypertriglyceridemia (TG ≥ 1.69 mmol/L), including the covariates: gender, age, waist circumference, blood glucose, blood pressure, smoking and alcohol consumption. Results We found a significant lowering effect of the LPL-HindIII and S447X polymorphisms (p < 0.0001). In addition, the D9N, N291S, S19W and -1131T/C variants and the APOE-ε4 allele were significantly associated with an independent additive TG-raising effect (p < 0.05, p < 0.01, p < 0.001, p < 0.0001 and p < 0.001, respectively). Grouping individuals according to the presence of TG-lowering or TG-raising polymorphisms showed significant differences in TG levels (p < 0.0001), with the lowest levels exhibited by carriers of two lowering variants (10.2% reduction in TG geometric mean with respect to individuals who were homozygous for the frequent alleles of all the variants), and the highest levels in carriers of raising combinations (25.1% mean TG increase). Thus, carrying two lowering variants was protective against HTG (OR = 0.62; 95% CI, 0.39-0.98; p = 0.042) and having one single raising polymorphism (OR

  2. Influence of additional weight on the frequency of kicks in infants with Down syndrome and infants with typical development

    PubMed Central

    Santos, Gabriela L.; Bueno, Thaís B.; Tudella, Eloisa; Dionisio, Jadiane

    2014-01-01

    BACKGROUND: Infants with Down syndrome present with organic and neurological changes that may lead to a delay in the acquisition of motor skills such as kicking, a fundamental skill that is a precursor of gait and is influenced by intrinsic and extrinsic factors. Therefore, this movement should be taken into account in early physical therapy interventions in infants. OBJECTIVE: To analyze and to compare the effect of additional weight on the frequency of kicks in infants with Down syndrome and infants with typical development at 3 and 4 months of age. METHOD: Five infants with Down syndrome and five with typical development at 3 and 4 months of age were filmed. The experiment was divided into four experimental conditions lasting 1 minute each: training, baseline, weight (addition of ankle weight with 1/3 the weight of the lower limb), and post-weight. RESULTS: There were significant differences between groups for all variables (p<0.05), with lower frequencies observed for infants with Down syndrome in all variables. There were significant differences between the experimental conditions baseline and post-weight (p<0.001) for both groups in the frequency of contact and success, with a higher frequency in the post-weight condition. CONCLUSIONS: The weight acted as an important stimulus for both groups, directing the kicks toward the target and improving the infants' performance in the task through repetition, however, the infants with Down syndrome had lower frequencies of kicks. PMID:25003276

  3. Addition of Surfactants and Non-Hydrolytic Proteins and Their Influence on Enzymatic Hydrolysis of Pretreated Sugarcane Bagasse.

    PubMed

    Méndez Arias, Johanna; de Oliveira Moraes, Anelize; Modesto, Luiz Felipe Amarante; de Castro, Aline Machado; Pereira, Nei

    2017-02-01

    Poly(ethylene glycol) (PEG 4000) and bovine serum albumin (BSA) were investigated with the purpose of evaluating their influence on enzymatic hydrolysis of sugarcane bagasse. Effects of these supplements were assayed for different enzymatic cocktails (Trichoderma harzianum and Penicillium funiculosum) that acted on lignocellulosic material submitted to different pretreatment methods with varying solid (25 and 100 g/L) and protein (7.5 and 20 mg/g cellulose) loadings. The highest levels of glucose release were achieved using partially delignified cellulignin as substrate, along with the T. harzianum cocktail: increases of 14 and 18 % for 25 g/L solid loadings and of 33 and 43 % for 100 g/L solid loadings were reached for BSA and PEG supplementation, respectively. Addition of these supplements could maintain hydrolysis yield even for higher solid loadings, but for higher enzymatic cocktail protein loadings, increases in glucose release were not observed. Results indicate that synergism might occur among these additives and cellulase and xylanases. The use of these supplements, besides depending on factors such as pretreatment method of sugarcane bagasse, enzymatic cocktails composition, and solid and protein loadings, may not always lead to positive effects on the hydrolysis of lignocellulosic material, making it necessary further statistical studies, according to process conditions.

  4. The Influence of Various Additives on the Properties of Peo Coatings Formed on AZ31 mg Alloy

    NASA Astrophysics Data System (ADS)

    Rehman, Zeeshan Ur; Ahn, Byung-Hyun; Jeong, Yeong Seung; Song, Jung-Il; Koo, Bon-Heun

    2016-03-01

    In this work, plasma electrolytic oxidation (PEO) ceramic coatings were prepared on magnesium AZ31B alloy. Various electrolyte solutions including phosphate, aluminate and silicate as additives and NaOH + Na2SiF6 as constant agent were used to prepare the coatings. Influence of the additives on chemical composition and structure of the PEO coatings were examined by means of scanning electron microscope (SEM) and XRD. From structural analysis it was found that coatings prepared in the aluminate-based electrolyte have the best structural features. Microhardness and tribological characteristics of the PEO coatings were investigated using Vickers hardness test and pin-on-disc test. Microhardness for aluminate-based coating was found to be 1169.63HV while those for silicate-and phosphate-based coatings were 1093.42HV and 285.91HV, respectively. Wear rate of the aluminate-based coating was found to be lowest than all other coatings having a value of 2.78×10-3mg/Nm.

  5. Influence of additional coupling agent on the mechanical properties of polyester-agave cantala roxb based composites

    NASA Astrophysics Data System (ADS)

    Ubaidillah, Raharjo, Wijang W.; Wibowo, A.; Harjana, Mazlan, S. A.

    2016-03-01

    The mechanical and morphological properties of the unsaturated polyester resins (UPRs)-agave cantala roxb based composite are investigated in this paper. The cantala fiber woven in 3D angle interlock was utilized as the composite reinforcement. Surface grafting of the cantala fiber through chemical treatment was performed by introducing silane coupling agent to improving the compatibility with the polymer matrix. The fabrication of the composite specimens was conducted using vacuum bagging technique. The effect of additional coupling agent to the morphological appearance of surface fracture was observed using scanning electron microscopy. Meanwhile, the influence of additional silane to the mechanical properties was examined using tensile, bending and impact test. The photograph of surface fracture on the treated specimens showed the residual matrix left on the fibers in which the phenomenon was not found in the untreated specimens. Based on mechanical tests, the treated specimens were successfully increased their mechanical properties by 55%, 9.67%, and 92.4% for tensile strength, flexural strength, and impact strength, respectively, at 1.5% silane coupling agent.

  6. Influence of genetic factors on the ephedrine alkaloid composition ratio of Ephedra plants.

    PubMed

    Matsumoto, Masashi; Hirayama, Manabu; Ohtomi, Norihiro; Ohno, Takeshi; Nomura, Yukihiro; Iida, Osamu; Sugimura, Koji; Kawahara, Nobuo; Tsuchida, Takashi; Mikage, Masayuki

    2015-01-01

    We investigated the ephedrine alkaloid [(-)-ephedrine and (+)-pseudoephedrine] composition ratio of a crude Chinese herbal drug described in the Japanese Pharmacopoeia 'Ephedra herb (Chinese name: Mahuang)'. There were marked changes in the alkaloid composition ratio of wild plants in areas where both male and female clusters coexisted. However, in genetically homogeneous areas with the growth of male or female clusters alone, all of the coefficients of the regression lines were positive, but each gradient varied. This suggests that the alkaloid composition ratio has a clear tendency in each individual. Based on this, we cultivated individuals for vegetative propagation, and evaluated the alkaloid content ratio. Those propagated by separating the roots showed a specific tendency regardless of the cultivation area (Wakayama, Tanegashima). Those propagated by separating the herbaceous stem showed a specific tendency regardless of the soil or harvest time. In addition, we surveyed the (-)-ephedrine content ratio of 3- to 6-year-old strains. There was a high positive correlation coefficient between the previous and subsequent years. These findings suggest that the ephedrine alkaloid composition ratio of Ephedra herb depends on genetic factors, but not on environmental factors or the growth period.

  7. Additive genetic variation in resistance traits of an exotic pine species: little evidence for constraints on evolution of resistance against native herbivores.

    PubMed

    Moreira, X; Zas, R; Sampedro, L

    2013-05-01

    The apparent failure of invasions by alien pines in Europe has been explained by the co-occurrence of native pine congeners supporting herbivores that might easily recognize the new plants as hosts. Previous studies have reported that exotic pines show reduced tolerance and capacity to induce resistance to those native herbivores. We hypothesize that limited genetic variation in resistance to native herbivores and the existence of evolutionary trade-offs between growth and resistance could represent additional potential constraints on the evolution of invasiveness of exotic pines outside their natural range. In this paper, we examined genetic variation for constitutive and induced chemical defences (measured as non-volatile resin in the stem and total phenolics in the needles) and resistance to two major native generalist herbivores of pines in cafeteria bioassays (the phloem-feeder Hylobius abietis and the defoliator Thaumetopoea pityocampa) using half-sib families drawn from a sample of the population of Pinus radiata introduced to Spain in the mid-19th century. We found (i) significant genetic variation, with moderate-to-high narrow-sense heritabilities for both the production of constitutive non-volatile resin and induced total phenolics, and for constitutive resistance against T. pityocampa in bioassays, (ii) no evolutionary trade-offs between plant resistance and growth traits or between the production of different quantitative chemical defences and (iii) a positive genetic correlation between constitutive resistance to the two studied herbivores. Overall, results of our study indicate that the exotic pine P. radiata has limited genetic constraints on the evolution of resistance against herbivores in its introduced range, suggesting that, at least in terms of interactions with these enemies, this pine species has potential to become invasive in the future.

  8. General and Specific Predictors of Nicotine and Alcohol Dependence in Early Adulthood: Genetic and Environmental Influences

    PubMed Central

    Samek, Diana R; Keyes, Margaret A; Hicks, Brian M; Bailey, Jennifer; McGue, Matt; Iacono, William G

    2014-01-01

    Objective: This study builds on previous work delineating a hierarchical model of family environmental risk in relation to a hierarchical model of externalizing disorders (EXTs) by evaluating for gene–environment interplay in these relationships. The associations between parent–child relationship quality (conflict, bonding, and management) and substance-specific adolescent family environments (parental/sibling tobacco/alcohol use) in relation to young adult EXTs (age ∼22 years nicotine, alcohol, and other drug dependence; antisocial and risky sexual behavior) were evaluated. Method: The sample included 533 adopted offspring and 323 biological offspring. Because adopted youth do not share genes with their parents, a significant association between parent–child relationship quality and EXTs would provide evidence against passive gene–environment correlation (rGE). Significant associations between parental tobacco/alcohol use in relation to offspring nicotine/alcohol dependence in the adopted offspring support common environmental influence. Significant associations detected for the biological offspring only suggest common genetic influence. Results: For both adoptive and biological offspring, there was a significant association between parent–child relationship quality and EXTs. Parental tobacco/alcohol use was unrelated to EXTs. Sibling tobacco/alcohol use was related to EXTs, but only for the biological siblings. Parental tobacco use was associated with the residual variance in nicotine dependence in adopted offspring. Conclusions: Findings replicate a long-term influence of adolescent parent–child relationship quality on adult EXTs. Findings extend previous research by providing evidence against passive rGE in this association. The association between parental tobacco use and adult nicotine dependence appears to be environmentally mediated, but caution is warranted as we found this relationship only for adopted youth. PMID:24988261

  9. The influence of vibration type, frequency, body position and additional load on the neuromuscular activity during whole body vibration.

    PubMed

    Ritzmann, Ramona; Gollhofer, Albert; Kramer, Andreas

    2013-01-01

    This study aimed to assess the influence of different whole body vibration (WBV) determinants on the electromyographic (EMG) activity during WBV in order to identify those training conditions that cause highest neuromuscular responses and therefore provide optimal training conditions. In a randomized cross-over study, the EMG activity of six leg muscles was analyzed in 18 subjects with respect to the following determinants: (1) vibration type (side-alternating vibration (SV) vs. synchronous vibration (SyV), (2) frequency (5-10-15-20-25-30 Hz), (3) knee flexion angle (10°-30°-60°), (4) stance condition (forefoot vs. normal stance) and (5) load variation (no extra load vs. additional load equal to one-third of the body weight). The results are: (1) neuromuscular activity during SV was enhanced compared to SyV (P < 0.05); (2) a progressive increase in frequency caused a progressive increase in EMG activity (P < 0.05); (3) the EMG activity was highest for the knee extensors when the knee joint was 60° flexed (P < 0.05); (4) for the plantar flexors in the forefoot stance condition (P < 0.05); and (5) additional load caused an increase in neuromuscular activation (P < 0.05). In conclusion, large variations of the EMG activation could be observed across conditions. However, with an appropriate adjustment of specific WBV determinants, high EMG activations and therefore high activation intensities could be achieved in the selected muscles. The combination of high vibration frequencies with additional load on an SV platform led to highest EMG activities. Regarding the body position, a knee flexion of 60° and forefoot stance appear to be beneficial for the knee extensors and the plantar flexors, respectively.

  10. The Limits of Genetic Influence: A Behavior-Genetic Analysis of Infant-Caregiver Relationship Quality and Temperament

    ERIC Educational Resources Information Center

    Roisman, Glenn I.; Fraley, R. Chris

    2006-01-01

    This report presents data on 9-month-old twin pairs (n[MZ]=172; n[DZ]=333) from the Early Childhood Longitudinal Study, demonstrating that the role of genetic variation among infants is trivial and the shared and nonshared environment is substantial in accounting for the observed quality of infant-caregiver relationships. In contrast, maternal…

  11. No Clear Genetic Influences on the Association between Dyslexia and Anxiety in a Population-Based Sample of Female Twins

    ERIC Educational Resources Information Center

    Whitehouse, Andrew J. O.; Spector, Tim D.; Cherkas, Lynn F.

    2009-01-01

    Individuals with dyslexia are at an increased risk for anxiety disorders (e.g. generalized anxiety disorder, stress disorders, panic disorder). The extent to which this association is mediated by genetic and/or environmental influences is unclear. The current study explored the relationship between these two phenotypes using a large…

  12. Genetic and Environmental Influences on Prereading Skills and Early Reading and Spelling Development in the United States, Australia, and Scandinavia

    ERIC Educational Resources Information Center

    Samuelsson, Stefan; Olson, Richard; Wadsworth, Sally; Corley, Robin; DeFries, John C.; Willcutt, Erik; Hulslander, Jacqueline; Byrne, Brian

    2007-01-01

    Genetic and environmental influences on prereading skills in preschool and on early reading and spelling development at the end of kindergarten were compared among samples of identical and fraternal twins from the U.S. (Colorado), Australia, and Scandinavia. Mean comparisons revealed significantly lower preschool print knowledge in Scandinavia,…

  13. Early Adverse Environments and Genetic Influences on Age at First Sex: Evidence for Gene × Environment Interaction

    ERIC Educational Resources Information Center

    Carlson, Marie D.; Mendle, Jane; Harden, K. Paige

    2014-01-01

    Youth who experience adverse environments in early life initiate sexual activity at a younger age, on average, than those from more advantaged circumstances. Evolutionary theorists have posited that ecological stress precipitates earlier reproductive and sexual onset, but it is unclear how stressful environments interact with genetic influences on…

  14. Genetic and environmental influences on eating behavior - a study of twin pairs reared apart or reared together

    Technology Transfer Automated Retrieval System (TEKTRAN)

    This study examined the relative influence of genetic versus environmental factors on specific aspects of eating behavior. Adult monozygotic twins (22 pairs and 3 singleton reared apart, 38 pairs and 9 singleton reared together, age 18-76 years, BMI 17-43 kg/m2) completed the Three Factor Eating Que...

  15. Genetic Influences on Anxiety in Children: What We've Learned and where We're Heading

    ERIC Educational Resources Information Center

    Gregory, Alice M.; Eley, Thalia C.

    2007-01-01

    Anxiety is a common problem, typically beginning early in life. This article explores reasons for individual differences in levels of anxiety among children, by reviewing the genetic literature. The plethora of research to date has demonstrated clearly that both genes and environmental influences play important roles in explaining differences in…

  16. Glucokinase regulatory proten genetic variant interacts with omega-3 PUFA to influence insulin resistance and inflammation in metabolic syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Glucokinase Regulatory Protein (GCKR) plays a central role regulating both hepatic triglyceride and glucose metabolism. Fatty acids are key metabolic regulators, which interact with genetic factors and influence glucose metabolism and other metabolic traits. Omega-3 polyunsaturated fatty acids (n-3...

  17. An Understanding of How Peer, Genetic, and Environmental Influences Can Motivate Terrorists or Ordinary People to Kill Themselves and Others

    ERIC Educational Resources Information Center

    Lavoie-Perusse, Simon

    2009-01-01

    The purpose of this research paper is to find a correlation between peer, genetic, and environmental influences and the behavior and personality development during childhood. This study focuses on the 1999 Columbine High School Massacre to try to explain certain kinds of behavior. The study made on 275 freshmen at Cornell University showed that…

  18. Non-human primate models of alcohol-related phenotypes: the influence of genetic and environmental factors.

    PubMed

    Barr, Christina S

    2013-01-01

    Because of their complex social structures, behaviors, and genetic similarities to humans, nonhuman primates are useful for studying how genetic factors influence alcohol consumption. The neurobiological systems that influence addiction vulnerability may do so by acting on alcohol response, reward pathways, behavioral dyscontrol, and vulnerability to stress and anxiety. Rhesus macaques show individual differences in alcohol response and temperament, and such differences are influenced by genetic variants that are similar functionally to those present in humans. Genes at which variation moderates these phenotypes include those encoding monoamine oxidase A (MAOA-LPR), the serotonin transporter (HTTLPR), corticotropin releasing hormone (CRH-248C/T and -2232 C/G), Neuropeptide Y (NPY-1002 T/G), and the μ-opioid receptor (OPRM1 C77G). These provide opportunities for modeling how genetic and environmental factors (i.e., stress, individual's sex, or alcohol exposure) interact to influence alcohol consumption. Studies in primates may also reveal selective factors have driven maintenance or fixation of alleles that increase risk for alcohol use disorders in modern humans.

  19. The influence of the genetic and non-genetic factors on bone mineral density and osteoporotic fractures in Chinese women.

    PubMed

    Deng, Yan-Hua; Zhao, Lin; Zhang, Min-Jia; Pan, Chun-Ming; Zhao, Shuang-Xia; Zhao, Hong-Yan; Sun, Li-Hao; Tao, Bei; Song, Huai-Dong; Wang, Wei-Qing; Ning, Guang; Liu, Jian-Min

    2013-02-01

    To investigate the effects of genetic and non-genetic factors on bone mineral densities (BMDs) and osteoporotic fractures. This was a cross-sectional study to investigate the relationships between 18 SNPs and non-genetic factors with BMDs and osteoporotic fractures in 1012 Chinese Han women. Five SNPs in genes GPR177, CTNNB1, MEF2C, SOX6, and TNFRSF11B were associated with L1-4 or total hip BMDs. rs11898505 in SPTBN1 gene was associated with osteoporotic fractures. Subjects carrying the largest number of risk alleles (highest 10 %) not only had lower BMD values as compared to those carrying the least number of risk alleles (lowest 10 %), they also had a higher risk of fracture [P = 0.002, OR = 2.252, 95 %CI (1.136, 4.463)]. Results from multivariate stepwise regression analysis revealed that age [P < 0.001, OR = 1.038, 95 % CI (1.018, 1.058)], number of falls in a year [P < 0.001, OR = 2.347, 95 % CI (1.459, 3.774)], the G risk allele in rs11898505 [P = 0.023, OR = 1.559, 95 % CI (1.062, 2.290)], and the L1-4 BMD [P = 0.017, OR = 0.286, 95 % CI (0.102, 0.798)] were associated with the occurrence of osteoporotic fractures. Genetic (rs11898505) and non-genetic factors (age, number of falls in a year and L1-4 BMD) could work in concert to contribute to the risk of osteoporotic fractures.

  20. Genetic influences on exercise-induced adult hippocampal neurogenesis across 12 divergent mouse strains

    PubMed Central

    Clark, Peter J.; Kohman, Rachel A.; Miller, Daniel S.; Bhattacharya, Tushar K.; Brzezinska, Weronika J.; Rhodes, Justin S.

    2011-01-01

    New neurons are continuously born in the hippocampus of several mammalian species throughout adulthood. Adult neurogenesis represents a natural model for understanding how to grow and incorporate new nerve cells into pre-existing circuits in the brain. Finding molecules or biological pathways that increase neurogenesis has broad potential for regenerative medicine. One strategy is to identify mouse strains that display large versus small increases in neurogenesis in response to wheel running so the strains can be contrasted to find common genes or biological pathways associated with enhanced neuron formation. Therefore, mice from 12 different isogenic strains were housed with or without running wheels for 43 days to measure the genetic regulation of exercise-induced neurogenesis. The first 10 days mice received daily injections of BrdU to label dividing cells. Neurogenesis was measured as the total number of BrdU cells co-expressing NeuN mature neuronal marker in the hippocampal granule cell layer by immunohistochemistry. Exercise increased neurogenesis in all strains, but the magnitude significantly depended on genotype. Strain means for distance run on wheels, but not distance traveled in cages without wheels, were significantly correlated with strain mean level of neurogenesis. Further, certain strains displayed greater neurogenesis than others for a fixed level of running. Strain means for neurogenesis under sedentary conditions were not correlated with neurogenesis under runner conditions suggesting that different genes influence baseline versus exercise-induced neurogenesis. Genetic contributions to exercise-induced hippocampal neurogenesis suggest that it may be possible to identify genes and pathways associated with enhanced neuroplastic responses to exercise. PMID:21223504

  1. Genetic variation in the serotonin transporter gene influences ERP old/new effects during recognition memory

    PubMed Central

    Ross, Robert S.; Medrano, Paolo; Boyle, Kaitlin; Smolen, Andrew; Curran, Tim; Nyhus, Erika

    2015-01-01

    Recognition memory is defined as the ability to recognize a previously encountered stimulus and has been associated with spatially and temporally distinct event related potentials (ERPs). Allelic variations of the serotonin transporter gene (SLC6A4) have recently been shown to impact memory performance. Common variants of the serotonin transporter-linked polymorphic region (5HTTLPR) of the SLC6A4 gene result in long (l) and short (s) allelic variants with carriers of the s allele having lowered transcriptional efficiency. Thus, the current study examines the effects polymorphisms of the SLC6A4 gene have on performance and ERP amplitudes commonly associated with recognition memory. Electroencephalogram (EEG), genetic, and behavioral data were collected from sixty participants as they performed an item and source memory recognition task. In both tasks, participants studied and encoded 200 words, which were then mixed with 200 new words during retrieval. Participants were monitored with EEG during the retrieval portion of each memory task. EEG electrodes were grouped into four ROIs, left anterior superior, right anterior superior, left posterior superior, and right posterior superior. ERP mean amplitudes during hits in the item and source memory task were compared to correctly recognizing new items (correct rejections). Results show that s-carriers have decreased mean hit amplitudes in both the right anterior superior ROI 1000–1500 ms post stimulus during the source memory task and the left anterior superior ROI 300–500 ms post stimulus during the item memory task. These results suggest that individual differences due to genetic variation of the serotonin transporter gene influences recognition memory. PMID:26423665

  2. Progression of Chronic Kidney Disease: Adrenergic Genetic Influence on Glomerular Filtration Rate Decline in Hypertensive Nephrosclerosis

    PubMed Central

    Chen, Yuqing; Lipkowitz, Michael S.; Salem, Rany M.; Fung, Maple M.; Bhatnagar, Vibha; Mahata, Manjula; Nievergelt, Caroline M.; Rao, Fangwen; Mahata, Sushil K.; Schork, Nicholas J.; Hicks, Pamela J.; Bowden, Donald W.; Freedman, Barry I.; Brophy, Victoria H.; O'Connor, Daniel T.

    2010-01-01

    Background African-Americans are likely to develop hypertension and hypertensive nephrosclerosis. This grave prognosis, coupled with familial aggregation of end-stage renal disease (ESRD) in Blacks, prompts a search for genetic risk factors for ESRD. Recent evide