Science.gov

Sample records for han chinese delivering

  1. Analysis of mitochondrial DNA polymorphisms in Guangdong Han Chinese.

    PubMed

    Chen, Feng; Wang, Sha-Yan; Zhang, Ruan-Zhang; Hu, Yu-Hua; Gao, Guo-Feng; Liu, Yan-Hui; Kong, Qing-Peng

    2008-03-01

    Previous investigations on Chinese mitochondrial DNA (mtDNA) variation revealed that the matrilineal gene pool of southern Han Chinese is rather complex, with much higher genetic diversity and more basal/ancient lineages than the northern Hans. The extreme case is Guangdong Han populations, among which pronounced (matrilineal) differentiation has been observed, indicative of complex demography of the region. To get more insights into the maternal makeup of southern Han Chinese, mtDNA variation of a total of 106 individuals sampled from Dongguan, Guangdong Province, China, was analyzed in this study. With the aid of the information from control-region hypervariable segments I and II (HVS-I and -II) as well as some necessary coding-region segments, the phylogenetic status of all mtDNAs under examination were determined according to the reconstructed East Asian mtDNA tree. In this way, the mtDNAs have been classified into various haplogroups or sub-haplogroups. The southern-prevalent haplogroups, such as R9 (20.8%), B (17.9%), M7b (14.2%), show relatively high distribution frequencies in Dongguan Hans; whereas the frequencies of Northern-prevalent haplogroups (with the exception of D) are quite low: C (1.9%), G2 (1.9%) and Z (1.9%), indicating the southern-origin of Dongguan Hans.

  2. Migraine Susceptibility Genes in Han Chinese of Fujian Province

    PubMed Central

    Lin, Qi-fang; Chen, Zi-chun; Fu, Xian-guo; Yang, Jing; Cao, Luo-yuan; Yao, Long-teng; Xin, Yong-tong

    2017-01-01

    Background and Purpose Five single-nucleotide polymorphisms (SNPs) (rs4379368, rs10504861, rs10915437, rs12134493 and rs13208321) were recently identified in a Western population with migraine. These migraine-associated SNPs have not been evaluated in a Han Chinese population. This study investigated the associations of specific SNPs with migraine in a Han population. Methods This was a case-control study of Han Chinese residing in Fujian Province. Polymerase chain reaction—restriction-fragment-length polymorphism analysis and direct sequencing were used to characterize the relationships of SNPs in a control group of 200 subjects and in a migraine group of 201 patients. Results The frequencies of the five SNPs did not differ between patients with migraine and healthy non migraine controls. However, subgroup analysis indicated certain SNPs were more strongly associated with migraine with aura or migraine without aura than with controls. The CT genotype of rs4379368 was more common in migraine patients with aura (75%) than in migraine patients without aura (47.9%) and controls (48.5%) (p<0.05), and the TT genotype of rs10504861 was more common in migraine patients with aura than in controls (8.3% vs. 0.5%) (p<0.05). Meanwhile, the CC genotype of rs12134493 was less common in migraine patients without aura than in controls (80.6% vs. 88%) (p<0.05). Conclusions Our findings suggest that the rs4379368 and rs10504861 SNPs are markers for susceptibility to migraine with aura and that rs12134493 is a marker for the risk of migraine without aura in this Han population. Future studies should further explore if these associations vary by ethnicity. PMID:28079315

  3. Genome-Wide Association of Heroin Dependence in Han Chinese

    PubMed Central

    Coleman, Jonathan R. I.; Ducci, Francesca; Aliev, Fazil; Newhouse, Stephen J.; Liu, Xiehe; Ma, Xiaohong; Wang, Yingcheng; Collier, David A.; Asherson, Philip; Li, Tao; Breen, Gerome

    2016-01-01

    Drug addiction is a costly and recurring healthcare problem, necessitating a need to understand risk factors and mechanisms of addiction, and to identify new biomarkers. To date, genome-wide association studies (GWAS) for heroin addiction have been limited; moreover they have been restricted to examining samples of European and African-American origin due to difficulty of recruiting samples from other populations. This is the first study to test a Han Chinese population; we performed a GWAS on a homogeneous sample of 370 Han Chinese subjects diagnosed with heroin dependence using the DSM-IV criteria and 134 ethnically matched controls. Analysis using the diagnostic criteria of heroin dependence yielded suggestive evidence for association between variants in the genes CCDC42 (coiled coil domain 42; p = 2.8x10-7) and BRSK2 (BR serine/threonine 2; p = 4.110−6). In addition, we found evidence for risk variants within the ARHGEF10 (Rho guanine nucleotide exchange factor 10) gene on chromosome 8 and variants in a region on chromosome 20q13, which is gene-poor but has a concentration of mRNAs and predicted miRNAs. Gene-based association analysis identified genome-wide significant association between variants in CCDC42 and heroin addiction. Additionally, when we investigated shared risk variants between heroin addiction and risk of other addiction-related and psychiatric phenotypes using polygenic risk scores, we found a suggestive relationship with variants predicting tobacco addiction, and a significant relationship with variants predicting schizophrenia. Our genome wide association study of heroin dependence provides data in a novel sample, with functionally plausible results and evidence of genetic data of value to the field. PMID:27936112

  4. Risks associated with premature ovarian failure in Han Chinese women.

    PubMed

    Wang, Huidan; Chen, Haitao; Qin, Yingying; Shi, Zhuqing; Zhao, Xiaoming; Xu, Jianfeng; Ma, Bowen; Chen, Zi-Jiang

    2015-04-01

    In this retrospective study, the relationship between demographic characteristics, past medical history, general lifestyle habits and susceptibility of premature ovarian failure (POF) in Han Chinese population was investigated. Five hundred and fifty-three patients with POF and 400 women with normal ovarian function were recruited. A questionnaire was designed to gather information from responders. Logistic regression was carried out to calculate odds ratios (OR), 95% confidence intervals (95% CI) and P-values. History of pelvic surgery, mumps, having relatives with menstrual abnormalities and exposure to chemical agents were significantly associated with increased risk of POF (OR 5.53 [2.15 to 14.23]; 3.26 [2.38 to 4.47]; 28.12 [8.84 to 89.46]; 4.47 [2.09 to 9.58]). Vegetarian diet, tea and mineral water consumption reduced the risk of POF (OR 0.27 [0.19 to 0.37]; 0.04 [0.03 to 0.07]; 0.63 [0.47 to 0.85], respectively). Heredity, pelvic surgery, mumps and exposure to chemical agents were identified as risk factors for POF, whereas vegetarian diet, tea consumption and mineral water drinking were protective. Therefore, genetic consultation could help those women whose relatives manifested an early or premature menopause to avoid the consequences of possible premature ovarian function cessation. Avoidance of exposure to endocrine disrupters and flavonoids intake should be considered.

  5. Type 2 Diabetes in Han Chinese in Hubei

    NASA Astrophysics Data System (ADS)

    Abdo Saif Dehwah, Mustafa; Shuang, Zhang; Yan, Wang; Chan, Peng; Huang, Qing-Yang

    The aim of this study was to investigate the association between Pro12Ala polymorphism in the PPARγ2 gene and type 2 diabetes mellitus in Han Chinese in Hubei. Peroxisome proliferator activated receptorγ2 (PPARγ2) is a nuclear receptor plays a key role in regulation of adipocyte differentiation, lipid metabolism, insulin sensitivity and the development of type 2 diabetes mellitus (T2DM). There are various studies have provided evidence for the association between common Pro12Ala polymorphism in the PPARγ2 gene and type 2 diabetes mellitus, but the results are controversial and depend on ethnicity. So we conducted a case-control association study among 330 T2DM patients and 212 controls with family-based and random case-control designs. The genotypes of the PPARγ2 Pro12Ala polymorphism were detected by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFL) method. The result indicated that the Pro12 allele was associated with type 2 diabetes in this study population.

  6. Quantitative assessment of TIM-3 polymorphisms and cancer risk in Chinese Han population.

    PubMed

    Gao, Xueren; Yang, Jiaojiao; He, Youji; Zhang, Jianqiong

    2016-06-14

    Previous studies have investigated the associations of TIM-3 polymorphisms (-1516G/T, -574G/T, and +4259T/G) with cancer risk in Chinese Han population, but the results remain conflicting. Therefore, we conducted a meta-analysis to derive a more precise estimation of the associations. The pooled data showed that TIM-3 polymorphisms (-1516G/T, -574G/T, and +4259T/G) were significantly associated with an increased risk of overall cancer in Chinese Han population. Subgroup analyses based on cancer system showed that TIM-3 -1516G/T polymorphism was only associated with an increased risk of digestive system cancer in Chinese Han population. TIM-3 -574G/T polymorphism was associated with an increased risk of digestive system cancer and other cancer in Chinese Han population. TIM-3 +4259T/G polymorphism was only associated with an increased risk of other cancer in Chinese Han population. In summary, our results indicated that TIM-3 polymorphisms (-1516G/T, -574G/T, and +4259T/G) were associated with the increased risk of cancer in Chinese Han population.

  7. Was acupuncture developed by Han Dynasty Chinese anatomists?

    PubMed

    Shaw, Vivien; Mclennan, Amy K

    2016-05-01

    Anatomical dissection has begun to reveal striking similarities between gross anatomical structures and the system of nomenclature used in traditional Chinese acupuncture. This paper argues that acupuncture point nomenclature is rooted in systematic anatomical investigation of cadaveric specimens, and that acupuncture points and meridians are purposefully named to reflect observable physical form. Two types of evidence are compared: observations of physical structures based on anatomical dissection, and translation and analysis of original Chinese texts. Evidence is contextualized through in-depth practical understanding of acupuncture. Points designated as [Chinese character] tian (heavenly/superior), [Chinese character] xia (below/inferior), [Chinese character] liao (bone-hole), [Chinese character] fei (flying), [Chinese character] wei (bend), and [Chinese character] xi (mountain stream/ravine) are investigated. These acupuncture point names: (a) specify position; (b) reflect function and/or form; (c) indicate homologous structures; (d) mark unusual structures; and/or (e) describe the physical appearance of a deep (dissected) structure by likening it to a homologous everyday object. Results raise intriguing possibilities for developing an understanding of acupuncture points and meridians firmly based in the material and functional anatomy of the human body. Such an understanding has the potential to open new fields of thought about functional anatomy. It also has implications for future investigations into the mechanisms of acupuncture, and gives some insights into the possible origins of this iconic area of Chinese medicine.

  8. Y-chromosome haplotype distribution in Han Chinese populations and modern human origin in East Asians.

    PubMed

    Ke, Y; Su, B; Xiao, J; Chen, H; Huang, W; Chen, Z; Chu, J; Tan, J; Jin, L; Lu, D

    2001-06-01

    We investigated the distribution of Y-chromosome haplotype using 19 Y-SNPs in Han Chinese populations from 22 provinces of China. Our data indicate distinctive patterns of Y chromosome between southern and northern Han Chinese populations. The southern populations are much more polymorphic than northern populations. The latter has only a subset of the southern haplotypes. This result confirms the genetic difference observed between southern and northern ethnic populations in East Asia. It supports the hypothesis that the first settlement of modern humans of African origin occurred in the southern part of East Asia during the last Ice Age, and a northward migration led to the peopling of northern China.

  9. Nagashima-type palmoplantar keratosis in a Chinese Han population

    PubMed Central

    Zhang, Jia; Zhang, Guolong; Ni, Cheng; Cheng, Ruhong; Liang, Jianying; Li, Ming; Yao, Zhirong

    2016-01-01

    Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive form of palmoplantar keratoderma (PPK), which is caused by mutations in the SERPINB7 gene. NPPK has only been reported in Japanese and Chinese populations. The present study was conducted on 12 unrelated Chinese patients who were clinically predicted to suffer from NPPK. Mutation screening was performed by direct sequencing of the entire coding regions of SERPINB7, SLURP1, AQP5, CSTA, KRT1 and KRT9 genes. Direct sequencing of SERPINB7 revealed five homozygous founder mutations (c.796C>T) and four compound heterozygous mutations in nine patients, including one novel mutation (c.122_127delTGGTCC). Nine out of the 12 patients were diagnosed with NPPK due to SERPINB7 pathogenic mutations, and the results expanded the known mutation spectrum of NPPK. Taking the other seven reported Chinese patients, who had been definitively diagnosed with NPPK by genetic testing, into account, the present study further demonstrated that NPPK is a common entity in Mainland China, and c.796C>T is the most prevalent mutation and exerts a founder effect. Furthermore, the NPPK cases described in the current study presented a consistently mild phenotype, as compared with the degrees of phenotypic variability associated with other types of relatively severe PPK, including Mal de Meleda and Olmsted syndrome. PMID:27666198

  10. Teaching Styles and Conceptions of Effective Teachers: Tibetan and Han Chinese Academics Compared

    ERIC Educational Resources Information Center

    Zhang, Li-fang

    2011-01-01

    The principal objective of this research is to ascertain if the "research-teaching dichotomy" as revealed in the relationship between conceptions of effective teachers and teaching styles among Han Chinese academics can be found among Tibetan academics. As a preliminary objective, this research examines the appropriateness of the…

  11. Analysis of 24 Y-STR haplotype data in a Chinese Han population from Guangdong Province.

    PubMed

    Wang, Ying; Liu, Chao; Zhang, Chu-chu; Li, Ran; Liu, Hong; Ou, Xue-ling; Li, Hai-xia; Sun, Hong-yu

    2016-05-01

    In this study, we investigated the genetic polymorphisms of 24 Y-chromosomal short tandem repeat (Y-STR) loci in 885 unrelated Chinese Han male individuals from Guangdong Province, using a domestic AGCU Y24 STR kit. A total of 878 different haplotypes were observed at the 24 Y-STR loci; among them, 871 haplotypes were unique and 7 haplotypes occurred twice. The overall haplotype diversity was 0.99998 and the discrimination capacity was 99.2%. The gene diversity values ranged from 0.4354 at DYS438 to 0.9606 at DYS385a/b. Population relationships between the Guangdong Han population and seven other published Chinese populations were evaluated by Rst values and visualized in a two multi-dimensional scaling plot. The results showed the 24 Y-STR loci are highly polymorphic in Guangdong Han population and of great value in forensic application.

  12. Feeling Happy and Sad at the Same Time? Subcultural Differences in Experiencing Mixed Emotions between Han Chinese and Mongolian Chinese

    PubMed Central

    Deng, Xinmei; Ding, Xuechen; Cheng, Chen; Chou, Hiu Mei

    2016-01-01

    Sometimes people experience pleasant and unpleasant emotions at the same time in a single emotional event. Previous cross-cultural studies indicated that such mixed emotions are more prevalent in China and related to the attitudes toward happiness and individual’s regulatory motivation. However, China is a multi-ethnic country and not much is known about subcultural differences in mixed emotions. The aim of this study was to examine the role that implicit attitudes toward happiness and regulatory motivation played in regard of the subcultural differences in mixed emotions between Han (N = 61) and Mongolian Chinese (N = 46). Results indicated that, compared with Mongolian Chinese, Han Chinese showed stronger associations between implicit contra-hedonic attitudes toward happiness and mixed emotions during pleasant emotional events. Also, Han Chinese who reported contra-hedonic motivation during pleasant emotional events had higher levels of mixed emotions than those who had hedonic motivation. No significant differences were found in terms of mixed emotions between Mongolian Chinese who had contra-hedonic and hedonic motivation. These results suggest that the psychological mechanisms underlying differences in mixed emotions also require a more comprehensive understanding from a subcultural perspective. PMID:27833582

  13. Feeling Happy and Sad at the Same Time? Subcultural Differences in Experiencing Mixed Emotions between Han Chinese and Mongolian Chinese.

    PubMed

    Deng, Xinmei; Ding, Xuechen; Cheng, Chen; Chou, Hiu Mei

    2016-01-01

    Sometimes people experience pleasant and unpleasant emotions at the same time in a single emotional event. Previous cross-cultural studies indicated that such mixed emotions are more prevalent in China and related to the attitudes toward happiness and individual's regulatory motivation. However, China is a multi-ethnic country and not much is known about subcultural differences in mixed emotions. The aim of this study was to examine the role that implicit attitudes toward happiness and regulatory motivation played in regard of the subcultural differences in mixed emotions between Han (N = 61) and Mongolian Chinese (N = 46). Results indicated that, compared with Mongolian Chinese, Han Chinese showed stronger associations between implicit contra-hedonic attitudes toward happiness and mixed emotions during pleasant emotional events. Also, Han Chinese who reported contra-hedonic motivation during pleasant emotional events had higher levels of mixed emotions than those who had hedonic motivation. No significant differences were found in terms of mixed emotions between Mongolian Chinese who had contra-hedonic and hedonic motivation. These results suggest that the psychological mechanisms underlying differences in mixed emotions also require a more comprehensive understanding from a subcultural perspective.

  14. Genetic screening for mutations in the chip gene in intracranial aneurysm patients of Chinese Han nationality.

    PubMed

    Su, Li; Zhang, Yuan; Zhang, Chun-Yang; Zhang, An-Long; Mei, Xiao-Long; Zhao, Zhi-Jun; Han, Jian-Guo; Zhao, Li-Jun

    2013-01-01

    We performed a case-control study to investigate whether SNPs of CHIP might affect the development of IA in Chinese Han nationality. We believe we are the first to have screened IA patients for mutations in the CHIP gene to determine the association with these variants. The study group comprised 224 Chinese Han nationality patients with at least one intracranial aneurysm and 238 unrelated healthy Han nationality controls. Genomic DNA was isolated from blood leukocytes. The entire coding regions of CHIP were genotyped by PCR amplification and DNA sequencing. Differences in genotype and allele frequencies between patients and controls were tested by the chi-square method. Genotype and allele frequencies of the SNP rs116166850 was demonstrated to be in Hardy-Weinberg equilibrium. No significant difference in genotype or allele frequencies between case and control groups was detected at the SNP. Our data do not support the hypothesis of a major role for the CHIP gene in IA development in the Chinese Han population.

  15. Adolescent self-concept among Han, Mongolian, and Korean Chinese.

    PubMed

    Sharpes, D K; Wang, X

    1997-01-01

    Studies of self-concept have suffered from a lack of both a solid theoretical base and a clear definition of the term. It is not clear whether self-concept is a construct from the cognitive sciences, an active part of personality or of the ego and unconscious, or a physiological process as indicated from neurological research. Nor is it clear whether the psychological construct of self is related to other concepts, such as personal identity, self-esteem, and the ego, as sometimes these refer to the whole person or a structure or element within a person. What is evident is that the majority of researchers continue to assume that self-concept, however defined in theory, is primarily governed by environmental determinants despite abundant evidence from the neurosciences of the strong influence of its genetic heritability. This study assumed a genetic hypothesis, that self-concept is developmental and that adolescent perception of personal, relational, and academic self-identity occurs uniformly across cultures and environmental circumstances. Data were collected using a validated survey instrument, translated into Chinese, from majority and minority adolescents in the People's Republic of China. High similarity was found between the majority and minority adolescents, suggesting developmental propensities in the formation of self-concept.

  16. Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy.

    PubMed

    Zhou, Xiujuan; Chen, Minglong; Song, Hualian; Wang, Benqi; Chen, Hongwu; Wang, Jing; Wang, Wei; Feng, Shangpeng; Zhang, Fengxiang; Ju, Weizhu; Li, Mingfang; Gu, Kai; Cao, Kejiang; Wang, Dao W; Yang, Bing

    2015-04-01

    Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a cardiomyopathy that primarily involves the right ventricle. Mutations in desmosomal genes have been associated with ARVC. But its prevalence and spectrum are much less defined in the Chinese population, especially Han Chinese, a majority ethnic group in China; also the genotype-phenotype correlation regarding left ventricular involvement is still poorly understood. The aim of this study was to elucidate the genotype in Han Chinese patients with ARVC and the phenotype regarding cardiac left ventricle involvement in mutation carriers of ARVC. 48 Han Chinese patients were recruited into the present study based on the Original International Task Force Criteria of ARVC. Clinical data were reassessed according to the modified criteria published in 2010. A total of 36 subjects were diagnosed with ARVC; 12 patients were diagnosed with suspected ARVC. Five desmosomal genes (PKP2, DSG2, DSP, DSC2 and JUP) were sequenced directly from genomic DNA. Among the 36 patients, 21 mutations, 12 of which novel, were discovered in 19 individuals (19 of 36, 53%). The distribution of the mutations was 25% in PKP2, 14% in DSP, 11% in DSG2, 6% in JUP, and 3% in DSC2. Multiple mutations were identified in 2 subjects (2 of 36, 6%); both had digenic heterozygosity. Eight mutations, of which six were novel, were located in highly conserved regions. Seven mutations introduced a stop codon prematurely, which would result in premature termination of the protein synthesis. Two-dimensional echocardiography showed that LDVd and LDVs parameters were significantly larger in nonsense mutation carriers than in carriers of other mutations. In this comprehensive desmosome genetic analysis, 21 mutations were identified in five desmosomal genes in a group of 48 local Han Chinese subjects with ARVC, 12 of which were novel. PKP2 mutations were the most common variants. Left ventricular involvement could be a sign that the patient is a carrier of a

  17. Analysis of HLA-DM polymorphisms in the Chinese Han population.

    PubMed

    Feng, M L; Liu, R Z; Shen, T; Zhao, Y L; Zhu, Z Y; Liu, D Z

    2012-03-01

    Non-classical human leukocyte antigen (HLA)-DM plays an important and unique role in the processing and presentation of exogenous antigens. Polymorphisms of certain genes and frequency of alleles in populations may indicate susceptibility to certain diseases. In this study, the analysis of HLA-DMA and HLA-DMB gene polymorphisms and haplotypes in the Chinese Han population was conducted to obtain population genetic data. HLA-DM typing has been performed previously by other groups by polymerase chain reaction (PCR)-restriction fragment length polymorphism and PCR-sequence-specific oligonucleotide probe techniques. In this study, we established a TaqMan PCR typing method as an alternative to these techniques to survey the frequency of DMA and DMB alleles in the population. Genotyping was conducted in 1000 unrelated individuals of Han nationality in South and North China using TaqMan PCR typing. Four different DMA alleles and six different DMB alleles were detected. All loci met the Hardy-Weinberg equilibrium principle that both allele and genotype frequencies in a population remain constant. We found that the DMA*01:01 (69.35%) and DMB*01:01 (52.5%) alleles were more frequent in Chinese Hans. Analysis of the haplotypes for two loci of DMA and DMB showed that a highly significant positive linkage disequilibrium (LD) presented for DMA*01:01-DMB*01:02, DMA*01:01-DMB*01:03, DMA*01:01-DMB*01:04, DMA*01:02-DMB*01:01, DMA*01:02-DMB*01:05, DMA*01:03-DMB*01:07, and DMA*01:04-DMB*01:01 haplotypes. Analysis of haplotypes for four loci associated with antigen processing (DMA-DMB-TAP1-TAP2) showed a highly significant LD in DMA*01:01-DMB*01:04-TAP1*02:01:01-TAP2*01:02, DMA*01: 02-DMB*01:05-TAP1*01:01-TAP2*01:01, and DMA*01:01-DMB*01:03-TAP1* 04:01-TAP2*01:01 haplotypes. The comparison between the Chinese Han population and non-Chinese populations showed that no significant differences were found at the HLA-DMA locus in the Chinese Han population compared with people of German

  18. More heritability probably captured by psoriasis genome-wide association study in Han Chinese.

    PubMed

    Jiang, Long; Liu, Lu; Cheng, Yuyan; Lin, Yan; Shen, Changbing; Zhu, Caihong; Yang, Sen; Yin, Xianyong; Zhang, Xuejun

    2015-11-15

    Missing heritability is a common problem in genome-wide association studies in complex diseases/traits. To quantify the unbiased heritability estimate, we applied the phenotype correlation-genotype correlation regression in psoriasis genome-wide association data in Han Chinese which comprises 1139 cases and 1132 controls. We estimated that 45.7% heritability of psoriasis in Han Chinese were captured by common variants (s.e.=12.5%), which reinforced that the majority of psoriasis heritability can be covered by common variants in genome-wide association data (68.2%). The results provided evidence that the heritability covered by psoriasis genome-wide genotyping data was probably underestimated in previous restricted maximum likelihood method. Our study highlights the broad role of common variants in the etiology of psoriasis and sheds light on the possibility to identify more common variants of small effect by increasing the sample size in psoriasis genome-wide association studies.

  19. PRDM9 gene polymorphism may not be associated with defective spermatogenesis in the Chinese Han population.

    PubMed

    He, Xiao-Jin; Ruan, Jian; Du, Wei-Dong; Cao, Yun-Xia; Chen, Gang; Zuo, Xian-Bo; Peng, Yu-Wan; Wu, Huan; Song, Bing; Zhang, Xue-Jun

    2013-02-01

    PRDM9 is essential for the progression through early meiotic prophase, including double strand break repair, homologous chromosome pairing, and sex body formation during spermatogenesis. In order to evaluate the association of the PRDM9 gene variants with defective spermatogenesis in the Chinese Han population, we assessed two single nucleotide polymorphisms (SNPs) in the PRDM9 gene (rs1874165 and rs2973631) using Sequenom iplex technology in 309 cases of severely defective spermatogenesis (199 cases with non-obstructive azoospermia and 110 cases with severe oligozoospermia) and 377 controls. The allele frequencies of the SNPs were not statistically different between the study groups and the controls (P = 0.95 in rs1874165 and P = 0.80 in rs2973631, respectively). The genetic model analysis of the two SNPs indicated that these SNPs variants may not be associated with defective spermatogenesis in the Chinese Han population.

  20. Association of serine racemase gene variants with type 2 diabetes in the Chinese Han population.

    PubMed

    Zhang, Simin; Xiao, Jianzhong; Ren, Qian; Han, Xueyao; Tang, Yong; Yang, Wenying; Zhou, Xianghai; Ji, Linong

    2014-05-04

    A genome-wide association study in the Chinese Han population has identified several novel genetic variants of the serine racemase (SRR) gene in type 2 diabetes. Our purpose was to systematically evaluate the contribution of SRR variants in the Chinese Han population. rs391300 and rs4523957 in SRR were genotyped respectively in the two independent populations. A meta-analysis was used to estimate the effects of SRR in 21,305 Chinese Han individuals. Associations between single-nucleotide polymorphisms and diabetes-related phenotypes were analyzed among 2,615 newly diagnosed type 2 diabetes patients and 5,029 controls. Neither rs391300 nor rs4523957 were associated with type 2 diabetes in populations. Furthermore, meta-analysis did not confirm an association between type 2 diabetes and SRR. In the controls, rs391300-A and rs4523957-G were associated with higher 30-min plasma glucose in an oral glucose tolerance test. The present study did not confirm that SRR was associated with type 2 diabetes.

  1. Polymorphisms in the vitamin D receptor and risk of gout in Chinese Han male population.

    PubMed

    Liu, Shi-guo; Li, Yuan-yuan; Sun, Rui-xia; Wang, Jing-li; Li, Xin-de; Han, Lin; Chu, Nan; Li, Chang-gui

    2015-06-01

    Previous studies have showed that patients with gout showed lower serum 25(OH)D levels. As the specific receptor of vitamin D, VDR plays an important role in regulating immune system by combining with vitamin D. In this study, we investigated whether the functional VDR polymorphisms were associated with susceptibility to gout in Chinese Han male population. A total of 504 patients with gout and 523 gout-free controls were recruited from the Affiliated Hospital of the Medical College, Qingdao University. Genotyping of VDR rs11568820, rs2228570 and rs1544410 was performed by TaqMan allele discrimination assays. An association analysis was carried out using the χ(2) test. A genotype-phenotype analysis was also conducted. Our results showed that polymorphisms of rs11568820 and rs1544410 in VDR were associated with gout in Chinese Han male population. The A allele of both rs11568820 and rs1544410 was associated with the risk of gout [P = 0.012 OR 1.251, 95% CI (1.051-1.490); P = 0.006, OR 1.574, 95% CI (1.139-2.175)]. However, there was no statistic significance between rs2228570 and gout (P = 0.186). Our study suggested that the polymorphisms of VDR may be relevant host susceptibility factors for the development of gout in Chinese Han male population. However, further study should be done in a larger size sample and other ethic to test and verify our result.

  2. Association between Common Genetic Variants and Polycystic Ovary Syndrome Risk in a Chinese Han Population

    PubMed Central

    Sun, Ying; Yuan, Yi; Yang, Hua; Li, Jingjie; Feng, Tian; Ouyang, Yongri; Jin, Tianbo; Liu, Ming

    2016-01-01

    Objective: Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies affecting 5-7% of reproductive age women worldwide. The aim of our study was to explore the PCOS-related single nucleotide polymorphism (SNP) associations between common genetic variants and PCOS risk in a Han Chinese women population. Methods: In this case-control study, 285 Chinese Han women aged 28.50±6.858 years with PCOS and 299 controls of a mean age of 32.66±7.018 years were compared. We selected recently published genome-wide association studies (GWAS) which identified several genetic loci in PCOS. All the SNPs were genotyped by Sequenom Mass-ARRAY technology. Associations between the gene and the risk of PCOS were tested using various genetic models by Statistical Package for the Social Sciences and Plink. Results: We found that rs705702 in the RAB5B/SUOX was associated with PCOS (odds ratio=1.42; 95% confidence interval=1.08-1.87, p=0.011) and increased the PCOS risk. The genotypic model analysis also showed that rs705702 was associated with PCOS risk. Conclusion: Our results suggest that SNPs rs705702 in gene RAB5B/SUOX was associated with PCOS in Han Chinese women. PMID:27217259

  3. Impact of strabismus on the quality of life of Chinese Han teenagers

    PubMed Central

    Tu, Changsen; Ye, Liang; Jiang, Longfei; Wang, Yuwen; Li, Yingzi

    2016-01-01

    Background Although much research has been conducted on the impact of strabismus on the quality of life (QoL) of adults, the effect of this condition on teenagers has not been extensively studied. This study therefore aimed to assess the effect of strabismus on the vision-related QoL of Chinese teenagers. Methods The Chinese version of the 25-item National Eye Institute Visual Function Questionnaire (NEI-VFQ-25) was self-administered by 1,040 teenagers with strabismus and 1,002 individuals with normal vision. All the participants were from the Chinese Han population. The independent samples t-test was used to compare QoL between teenagers with and without strabismus. Results The majority of scores on the NEI-VFQ-25 domains were significantly different between the two groups. QoL was significantly lower in individuals with strabismus compared with teenagers with normal vision on all domains, with the exception of social functioning. Conclusion Statistically significantly lower vision-related QoL scores were found in Chinese Han teenagers with strabismus compared with those without strabismus. PMID:27354771

  4. MC1R variants in Chinese Han patients with sporadic Parkinson's disease.

    PubMed

    Shi, Chang-He; Wang, Hui; Mao, Cheng-Yuan; Yang, Jing; Song, Bo; Liu, Yu-Tao; Yang, Zhi-Hua; Luo, Hai-Yang; Zhang, Shu-Yu; Wu, Jun; Xu, Yu-Ming

    2016-06-01

    Recently, a variant p.R160W in the MC1R gene was identified that increased the risk of Parkinson's disease (PD) in Spanish population. To explore whether the MC1R gene variants are associated with sporadic PD in Chinese population, we performed a case-control comparison study for comprehensive MC1R variant screening in 510 Chinese Han patients and 495 healthy controls as ethnically matched controls. We identify 5 nonsynonymous variants, including rs34090186 (p.R67Q), rs2228479 (p.V92M), rs33932559 (p.I120T), rs885479 (p.R163Q), and rs372152373 (p.R223W). However, variants mentioned previously did not show association with PD. Our results suggest that variants in MC1R do not play a major role in PD in the Chinese population.

  5. A panel of ancestry informative markers to estimate and correct potential effects of population stratification in Han Chinese.

    PubMed

    Qin, Pengfei; Li, Zhiqiang; Jin, Wenfei; Lu, Dongsheng; Lou, Haiyi; Shen, Jiawei; Jin, Li; Shi, Yongyong; Xu, Shuhua

    2014-02-01

    Population stratification acts as a confounding factor in genetic association studies and may lead to false-positive or false-negative results. Previous studies have analyzed the genetic substructures in Han Chinese population, the largest ethnic group in the world comprising ∼20% of the global human population. In this study, we examined 5540 Han Chinese individuals with about 1 million single-nucleotide polymorphisms (SNPs) and screened a panel of ancestry informative markers (AIMs) to facilitate the discerning and controlling of population structure in future association studies on Han Chinese. Based on genome-wide data, we first confirmed our previous observation of the north-south differentiation in Han Chinese population. Second, we developed a panel of 150 validated SNP AIMs to determine the northern or southern origin of each Han Chinese individual. We further evaluated the performance of our AIMs panel in association studies in simulation analysis. Our results showed that this AIMs panel had sufficient power to discern and control population stratification in Han Chinese, which could significantly reduce false-positive rates in both genome-wide association studies (GWAS) and candidate gene association studies (CGAS). We suggest this AIMs panel be genotyped and used to control and correct population stratification in the study design or data analysis of future association studies, especially in CGAS which is the most popular approach to validate previous reports on genetic associations of diseases in post-GWAS era.

  6. Genetic Variation of 25 Y-Chromosomal and 15 Autosomal STR Loci in the Han Chinese Population of Liaoning Province, Northeast China.

    PubMed

    Yao, Jun; Wang, Bao-Jie

    2016-01-01

    In the present study, we investigated the genetic characteristics of 25 Y-chromosomal and 15 autosomal short tandem repeat (STR) loci in 305 unrelated Han Chinese male individuals from Liaoning Province using AmpFISTR® Yfiler® Plus and IdentifilerTM PCR amplification kits. Population comparison was performed between Liaoning Han population and different ethnic groups to better understand the genetic background of the Liaoning Han population. For Y-STR loci, the overall haplotype diversity was 0.9997 and the discrimination capacity was 0.9607. Gene diversity values ranged from 0.4525 (DYS391) to 0.9617 (DYS385). Rst and two multi-dimensional scaling plots showed that minor differences were observed when the Liaoning Han population was compared to the Jilin Han Chinese, Beijing Han Chinese, Liaoning Manchu, Liaoning Mongolian, Liaoning Xibe, Shandong Han Chinese, Jiangsu Han Chinese, Anhui Han Chinese, Guizhou Han Chinese and Liaoning Hui populations; by contrast, major differences were observed when the Shanxi Han Chinese, Yunnan Bai, Jiangxi Han Chinese, Guangdong Han Chinese, Liaoning Korean, Hunan Tujia, Guangxi Zhuang, Gansu Tibetan, Xishuangbanna Dai, South Korean, Japanese and Hunan Miao populations. For autosomal STR loci, DP ranged from 0.9621 (D2S1338) to 0.8177 (TPOX), with PE distributing from 0.7521 (D18S51) to 0.2988 (TH01). A population comparison was performed and no statistically significant differences were detected at any STR loci between Liaoning Han, China Dong, and Shaanxi Han populations. The results showed that the 25 Y-STR and 15 autosomal STR loci in the Liaoning Han population were valuable for forensic applications and human genetics, and Liaoning Han was an independent endogenous ethnicity with a unique subpopulation structure.

  7. Genetic Variation of 25 Y-Chromosomal and 15 Autosomal STR Loci in the Han Chinese Population of Liaoning Province, Northeast China

    PubMed Central

    Yao, Jun; Wang, Bao-jie

    2016-01-01

    In the present study, we investigated the genetic characteristics of 25 Y-chromosomal and 15 autosomal short tandem repeat (STR) loci in 305 unrelated Han Chinese male individuals from Liaoning Province using AmpFISTR® Yfiler® Plus and IdentifilerTM PCR amplification kits. Population comparison was performed between Liaoning Han population and different ethnic groups to better understand the genetic background of the Liaoning Han population. For Y-STR loci, the overall haplotype diversity was 0.9997 and the discrimination capacity was 0.9607. Gene diversity values ranged from 0.4525 (DYS391) to 0.9617 (DYS385). Rst and two multi-dimensional scaling plots showed that minor differences were observed when the Liaoning Han population was compared to the Jilin Han Chinese, Beijing Han Chinese, Liaoning Manchu, Liaoning Mongolian, Liaoning Xibe, Shandong Han Chinese, Jiangsu Han Chinese, Anhui Han Chinese, Guizhou Han Chinese and Liaoning Hui populations; by contrast, major differences were observed when the Shanxi Han Chinese, Yunnan Bai, Jiangxi Han Chinese, Guangdong Han Chinese, Liaoning Korean, Hunan Tujia, Guangxi Zhuang, Gansu Tibetan, Xishuangbanna Dai, South Korean, Japanese and Hunan Miao populations. For autosomal STR loci, DP ranged from 0.9621 (D2S1338) to 0.8177 (TPOX), with PE distributing from 0.7521 (D18S51) to 0.2988 (TH01). A population comparison was performed and no statistically significant differences were detected at any STR loci between Liaoning Han, China Dong, and Shaanxi Han populations. The results showed that the 25 Y-STR and 15 autosomal STR loci in the Liaoning Han population were valuable for forensic applications and human genetics, and Liaoning Han was an independent endogenous ethnicity with a unique subpopulation structure. PMID:27483472

  8. Genetic variants associated with lean and obese type 2 diabetes in a Han Chinese population

    PubMed Central

    Kong, Xiaomu; Xing, Xiaoyan; Hong, Jing; Zhang, Xuelian; Yang, Wenying

    2016-01-01

    Abstract Type 2 diabetes (T2D) is highly phenotypically heterogeneous. Genetics of the heterogeneity of lean and obese T2D is not clear. The aim of the present study was to identify the associations of T2D-related genetic variants with the risks for lean and obese T2D among the Chinese Han population. A case–control study consisting of 5338 T2D patients and 4663 normal glycemic controls of Chinese Han recruited in the Chinese National Diabetes and Metabolic Disorders Study was conducted. T2D cases were identified according to the 1999 World Health Organization criteria. Lean T2D was defined as T2D patient with a body mass index (BMI) <23 kg/m2, whereas obese T2D was defined as T2D patient with a BMI ≥28 kg/m2. Twenty-five genome-wide association studies previously validated T2D-related single-nucleotide polymorphisms (SNPs) were genotyped. A genotype risk score (GRS) based on the 25 SNPs was created. After adjusting for multiple covariates, SNPs in or near CDKAL1, CDKN2BAS, KCNQ1, TCF7L2, CDC123/CAMK1D, HHEX, and TCF2 were associated with the risk for lean T2D, and SNPs in or near KCNQ1 and FTO were associated with the risk for obese T2D. The results showed that the GRS for 25 T2D-related SNPs was more strongly associated with the risk for lean T2D (Ptrend = 2.66 × 10−12) than for obese T2D (Ptrend = 2.91 × 10−5) in our study population. Notably, the T2D GRS contributed to lower obesity-related measurements and greater β-cell dysfunction, including lower insulin levels in oral glucose tolerance test, decreased insulinogenic index, and Homeostasis Model Assessment for β-cell Function. In conclusion, our findings identified T2D-related genetic loci that contribute to the risk of lean and obese T2D individually and additively in a Chinese Han population. Moreover, the study highlights the contribution of known T2D genomic loci to the heterogeneity of lean and obese T2D in Chinese Hans. PMID:27281091

  9. Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching

    PubMed Central

    Arafat, Ahmed; Jing, Peng; Ma, Yuping; Pu, Miao; Nan, Gai; Fang, He; Chen, Chen; Fei, Yin

    2017-01-01

    Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures and progressive disturbance of cerebral function. This study was to investigate a cohort of Chinese children with unexplained EIEE, infants with previous genetic diagnoses, causative brain malformations, or inborn errors of metabolism were excluded. We used targeted next-generation sequencing to identify potential pathogenic variants of 308 genes in 68 Han Chinese patients with unexplained EIEE. A filter process was performed to prioritize rare variants of potential functional significance. In all cases where parental testing was accessible, Sanger sequencing confirmed the variants and determined the parental origin. In 15% of patients (n = 10/68), we identified nine de novo pathogenic variants, and one assumed de novo pathogenic variant in the following genes: CDKL5 (n = 2), STXBP1 (n = 2), SCN1A (n = 3), KCNQ2 (n = 2), SCN8A (n = 1), four of the variants are novel variants. In 4% patients (n = 3/68), we identified three likely pathogenic variants; two assumed de novo and one X-linked in the following genes: SCN1A (n = 2) and ARX (n = 1), two of these variants are novel. Variants were assumed de novo when parental testing was not available. Our findings were first reported in Han Chinese patients with unexplained EIEE, enriching the EIEE mutation spectrum bank. PMID:28387369

  10. Genetic analysis of MC1R variants in Chinese Han patients with sporadic Parkinson's disease.

    PubMed

    He, Sihan; Tan, Ting; Song, Zhi; Yuan, Lamei; Deng, Xiong; Ni, Bin; Chen, Yong; Deng, Hao

    2016-01-12

    Parkinson's disease (PD, OMIM 168600) is a neurodegenerative disorder featured by degeneration of melanin-positive dopaminergic neurons. Epidemiologic studies have suggested that PD and malignant melanoma (MM) might share common genetic components. Recently, the p.R160W variant in the melanocortin 1 receptor gene (MC1R, OMIM 155555), a risk factor for MM, has been identified to be associated with PD in Spanish population. To explore whether the MC1R variants are associated with sporadic PD in Chinese population, we designed a case-control comparison study and studied three variants, including rs3212366 (p.F196L), rs33932559 (p.I120T) and rs34090186 (p.R67Q), in the MC1R gene in 512 Chinese Han patients with sporadic PD and 512 age, gender and ethnicity matched normal controls. For rs3212366, only the TT genotype was identified in both PD and control cohorts. For variants rs33932559 and rs34090186, we did not identify any statistically significant difference in either genotypic distribution or allelic distribution between the PD cohort and control cohort, and in addition, we did not identify any related haplotype that would either increase the risk for PD or play a protective role against PD. Our data suggest that none of the three variants of the MC1R gene and related haplotypes be associated with sporadic form of PD in Chinese Han population from Mainland China.

  11. [Haplotype and linkage analysis of HLA-I classical genes in Chinese Han population].

    PubMed

    Yuan, Fang; Sun, Yu-Ying; Luo, Yuan; Liang, Fei; Liu, Nan; Jin, Li; Liu, Jin-Feng; Liu, Shu-Guang; Xi, Yong-Zhi

    2007-10-01

    The aim of this study was to investigate the parameters of gene frequencies, haplotype frequencies and linkage disequilibrium of HLA-A, -B, -Cw in HLA classical I loci for Chinese Han population. HLA-A, HLA-B and HLA-Cw loci were genotyped in 1014 unrelated China people using low resolution PCR-SSP typing method, and their genetic parameters were analyzed by statistic methods. The results indicated that among all the detected HLA-I genes, A*02 (0.33), A*11 (0.24), B*15 (0.14), B*13 (0.13), Cw*03 (0.25) and Cw*07 (0.18) were the popular gene groups distributing in Chinese Han population, and A*02-B*46 (0.071), A*11-B*15 (0.051), A*02-Cw*01 (0.084), A*11-Cw*03 (0.079), B*46-Cw*01 (0.095) and B*13-Cw*03 (0.071) were the predominant haplotypes in Han population. Additionally, A*02-B*46, A*30-B*13, A*30-Cw*06, A*02-Cw*01, B*46-Cw*01 and B*58-Cw*03 were statistically significant with strong linkage disequilibrium. While A*02-B*15, A*02-B*40, A*24-Cw*03, A*02-Cw*03 and A*31-Cw*03 were in low linkage disequilibrium, among them A*24-Cw*03 appeared frequently in HLA recombination events. In addition, A*02-B*46-Cw*01 (0.075), A*30-B*13-Cw*06 (0.046), A*11-B*13-Cw*03 (0.045), A*33-B*58-Cw*03 (0.044), A*11-B*15-Cw*08 (0.027), A*02-B*38-Cw*07 (0.023) and A*11-B*40-Cw*07 (0.022) were the main extended haplotypes in Han population. In conclusions, this study investigated systematically the genetic polymorphism features of Chinese Han population, which may provide useful genetic parameters for researches in colonial evolution, clinical transplantation and disease susceptibility.

  12. Multiple genetic variants associated with primary biliary cirrhosis in a Han Chinese population.

    PubMed

    Dong, Ming; Li, Jinxin; Tang, Ruqi; Zhu, Ping; Qiu, Fang; Wang, Chan; Qiu, Jie; Wang, Lan; Dai, Yaping; Xu, Ping; Gao, Yueqiu; Han, Chongxu; Wang, Yongzhong; Wu, Jian; Wu, Xudong; Zhang, Kui; Dai, Na; Sun, Weihao; Zhou, Jianpo; Hu, Zhigang; Liu, Lei; Jiang, Yuzhang; Nie, Jinshan; Zhao, Yi; Gong, Yuhua; Tian, Ye; Ji, Hualiang; Jiao, Zhijun; Jiang, Po; Shi, Xingjuan; Jawed, Rohil; Zhang, Yu; Huang, Qinghai; Li, Enling; Wei, Yiran; Xie, Wei; Zhao, Weifeng; Liu, Xiang; Zhu, Xiang; Qiu, Hong; He, Gengsheng; Chen, Weichang; Seldin, Michael F; Gershwin, M Eric; Liu, Xiangdong; Ma, Xiong

    2015-06-01

    Multiple genome-wide association studies of primary biliary cirrhosis (PBC) in both European and Japanese ancestries have shown significant associations of many genetic loci contributing to the susceptibility to PBC. Major differences in susceptibility loci between these two population groups were observed. In this study, we examined whether the most significant loci observed in either European and/or Japanese cohorts are associated with PBC in a Han Chinese population. In 1070 PBC patients and 1198 controls, we observed highly significant associations at CD80 (rs2293370, P = 2.67 × 10(-8)) and TNFSF15 (rs4979462, P = 3.86 × 10(-8)) and significant associations at 17q12-21 (rs9303277), PDGFB (rs715505), NF-κB1 (rs7665090), IL12RB2 (rs11209050), and STAT4 (rs7574865; all corrected P values <0.01). However, no association was observed for POU2AF1 (rs4938534), IL12A (rs485499 and rs2366408), IL7R (rs6897932), CXCR5 (rs715412), SOCS1 (rs725613), and TNFRSF1A (rs1800693). STAT4 (rs7574865) was strongly associated after additional control samples were analyzed. Our study is the first large-scale genetic analysis in a Han Chinese PBC cohort. These results do not only reflect that Han Chinese PBC patients share common genetic susceptibility genes with both their Japanese and European counterparts but also suggest a distinctly different genetic susceptibility profile.

  13. HLA-G coding region and 3'untranslated region (3'UTR) in two Chinese Han populations.

    PubMed

    Wang, Wen Yi; Tian, Wei; Liu, Xue Xiang; Li, Li Xin

    2016-08-01

    In this study, exons 2-4 and 3'untranslated region (3'UTR) of human leukocyte antigen (HLA)-G gene were investigated for 201 and 104 healthy unrelated Han samples recruited from Hunan Province, southern China and central Inner Mongolia Autonomous Region, northern China, respectively, using sequence-based typing and cloning methods. Totally 12 HLA-G alleles in the coding region, 9 variable sites in 3'UTR, 8 3'UTR haplotypes and 15 HLA-G extended haplotypes (EHs) incorporating the coding region and 3'UTR were observed. Very strong linkage disequilibrium (LD) was observed between HLA-A and HLA-G, and between HLA-G coding region and 3'UTR in each population (all global P=0.0000). Seven HLA-A-G haplotypes showed significant LD in both populations. Three HLA-G alleles in the coding region, 4 polymorphic sites in the 3'UTR, 3 3'UTR haplotypes and 4 HLA-G EHs differed significantly in their distributions between the 2 Chinese Han populations (all P≤0.0001). There was evidence for balancing selection acting on HLA-G 3'UTR positions +3010, +3142 and +3187 in the two populations. The NJ dendrograms demonstrated the existence of two basic HLA-G lineages and indicated that, HLA-G*01:01:01, the most common HLA-G allele, formed a separate lineage from other alleles. Our results shed new lights into HLA-G genetics among Chinese Han populations. The findings reported here are of importance for future studies related to post-transcriptional regulation of HLA-G allelic expression and the potential role of HLA-G in disease association in populations of Chinese ancestry.

  14. FMR1 Premutation Is an Uncommon Explanation for Premature Ovarian Failure in Han Chinese

    PubMed Central

    Guo, Ting; Qin, Yingying; Jiao, Xue; Li, Guangyu; Simpson, Joe Leigh; Chen, Zi-Jiang

    2014-01-01

    Background In premature ovarian failure (POF), cessation of menstruation occurs before the expected age of menopause. Approximately 1% of women are affected. FMR1 premutation was reported to be responsible for up to 3.3%–6.7% of sporadic POF and 13% of familial cases in Caucasians, while the data was absent in Chinese population. Therefore, the impact of FMR1 CGG repeat on ovarian reserve is needed to be investigated in large Chinese cohort. Methods The number of FMR1 CGG repeat was determined in 379 Han Chinese women with well-defined 46, XX non-syndromic sporadic POF and 402 controls. The age of menopause onset in respect to CGG repeats was further analyzed. Results The frequency of FMR1 premutation in Han Chinese POF was only 0.5% (2/379), although it was higher than that in matched controls (0%, 0/402), it was much lower than that reported in Caucasian with POF (3.3%–6.7%). The prevalence of intermediate FMR1 (41–54) was not increased significantly in sporadic POF than that in controls (2.9% vs. 1.7%, P = 0.343). However, POF patients more often carried a single additional CGG repeat in a single allele than did fertile women (allele-1: 29.7 vs. 28.8, P<0.001; allele-2: 32.6 vs. 31.5, P<0.001). POF patients with both alleles of CGG repeats outside (below or above) the normal range (26–34) showed an earlier age of cessation of menses than those with two alleles within normal range (hom-high/high vs. norm: 20.4±4.8 vs. 24.7±6.4, p<0.01; hom-low/high vs. norm: 18.7±1.7 vs. 24.7±6.4, p<0.01). Conclusions FMR1 premutation seems to be an uncommon explanation for POF in Han Chinese. However, having both alleles with CGG repeats outside the normal range might still adversely affect ovarian aging. PMID:25050920

  15. ERBB4 Confers Risk for Polycystic Ovary Syndrome in Han Chinese

    PubMed Central

    Peng, Yingqian; Zhang, Wei; Yang, Ping; Tian, Ye; Su, Shizhen; Zhang, Changming; Chen, Zi-Jiang; Zhao, Han

    2017-01-01

    A recent genome-wide association study (GWAS) of polycystic ovary syndrome (PCOS) in European cohorts has identified six susceptibility loci mapping to 11q22.1 (YAP1), 2p21 (THADA), 11p14.1 (FSHB), 2q34 (ERBB4), 12q21.2 (KRR1), and 5q31.1 (RAD50). The loci of 11q22.1, 2p21 and 11p14.1 have been confirmed to be associated with PCOS in Chinese; whereas the other three new loci (2q34, 12q21.2, and 5q31.1) still need to be evaluated in Chinese. This study was aimed to determine if the three new loci identified in European PCOS also confer risks for PCOS in Han Chinese. We performed a case-control genetic association study comprising 1500 PCOS cases and 1220 age-matched control subjects. Marker SNPs rs1351592 (2q34, ERBB4), rs1275468 (12q21.2, KRR1) and rs13164856 (5q31.1, RAD50) were genotyped using TaqMan-MGB probe assay. Genotyping analysis showed the allele frequency of rs1351592 in gene ERBB4 was significantly different (P = 1.05E-03) between PCOS cases and control group, and remained significant even after BMI adjustment (Padjusted = 2.09E-04). However, the allele frequencies of the other two risk variants, rs1275468 (12q21.2, KRR1) and rs13164856 (5q31.1, RAD50), were not significantly different in the replication cohort. Our results demonstrate that ERBB4, with the strongest association in European PCOS, also confers risk for PCOS in Han Chinese. PMID:28195137

  16. ERBB4 Confers Risk for Polycystic Ovary Syndrome in Han Chinese.

    PubMed

    Peng, Yingqian; Zhang, Wei; Yang, Ping; Tian, Ye; Su, Shizhen; Zhang, Changming; Chen, Zi-Jiang; Zhao, Han

    2017-02-14

    A recent genome-wide association study (GWAS) of polycystic ovary syndrome (PCOS) in European cohorts has identified six susceptibility loci mapping to 11q22.1 (YAP1), 2p21 (THADA), 11p14.1 (FSHB), 2q34 (ERBB4), 12q21.2 (KRR1), and 5q31.1 (RAD50). The loci of 11q22.1, 2p21 and 11p14.1 have been confirmed to be associated with PCOS in Chinese; whereas the other three new loci (2q34, 12q21.2, and 5q31.1) still need to be evaluated in Chinese. This study was aimed to determine if the three new loci identified in European PCOS also confer risks for PCOS in Han Chinese. We performed a case-control genetic association study comprising 1500 PCOS cases and 1220 age-matched control subjects. Marker SNPs rs1351592 (2q34, ERBB4), rs1275468 (12q21.2, KRR1) and rs13164856 (5q31.1, RAD50) were genotyped using TaqMan-MGB probe assay. Genotyping analysis showed the allele frequency of rs1351592 in gene ERBB4 was significantly different (P = 1.05E-03) between PCOS cases and control group, and remained significant even after BMI adjustment (Padjusted = 2.09E-04). However, the allele frequencies of the other two risk variants, rs1275468 (12q21.2, KRR1) and rs13164856 (5q31.1, RAD50), were not significantly different in the replication cohort. Our results demonstrate that ERBB4, with the strongest association in European PCOS, also confers risk for PCOS in Han Chinese.

  17. Association of HMGCR polymorphism with late-onset Alzheimer's disease in Han Chinese

    PubMed Central

    Tan, Meng-Shan; Wang, Hui-Fu; Tan, Chen-Chen; Zhang, Wei; Zheng, Zhan-Jie; Kong, Ling-Li; Wang, Zi-Xuan; Jiang, Teng; Yu, Jin-Tai; Tan, Lan

    2016-01-01

    The 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) acts as a potential genetic modifier for Alzheimer's disease (AD). Previous reports identified that HMGCR rs3846662 polymorphism is associated with biosynthesis of cholesterol in AD pathology. In order to assess the involvement of the HMGCR polymorphism in the risk of late-onset AD (LOAD) in northern Han Chinese, we performed a case–control study of 2334 unrelated subjects (984 cases and 1350 age- and gender-matched controls) to evaluate the genotype and allele distributions of the HMGCR rs3846662 with LOAD. The genotype distribution (GG, AG, AA) of rs3846662 was significantly different between LOAD patients and controls (P = 0.003), but the allele distribution did not reach a significant difference (P = 0.614). After adjusting for age, gender and the APOE ε4 status, the minor A allele of rs3846662 was validated as a protective factor for LOAD in dominant model (OR = 0.796, P = 0.02, 95% CI = 0.657–0.965). Interestingly, we observed rs3846662 polymorphism was only significantly associated with LOAD in APOE ε4 non-carriers (OR = 0.735, P = 0.005, 95% CI = [0.593, 0.912]). In conclusion, our study demonstrates A allele of HMGCR rs3846662 acts as a protective factor for LOAD in northern Han Chinese. PMID:27009838

  18. Genetic polymorphisms of cell adhesion molecules in Behcet’s disease in a Chinese Han population

    PubMed Central

    Zheng, Minming; Zhang, Lijun; Yu, Hongsong; Hu, Jiayue; Cao, Qingfeng; Huang, Guo; Huang, Yang; Yuan, Gangxiang; Kijlstra, Aize; Yang, Peizeng

    2016-01-01

    Cell adhesion molecules (CAMs) are involved in various immune-mediated diseases. This study was conducted to investigate the association of single nucleotide polymorphisms (SNPs) of CAMs with Behçet’s disease (BD) in a Chinese Han population. A two-stage association study was carried out in 1149 BD patients and 2107 normal controls. Genotyping of 43 SNPs was performed using MassARRAY System (Sequenom), polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and TaqMan SNP assays. The expression of CD6 and CD11c was examined by real-time PCR and cytokine production was measured by ELISA. A significantly higher frequency of the CT genotype, and a lower frequency of the CC genotype and C allele of CD6 rs11230563 were observed in BD as compared with controls. Analysis of CD11c rs2929 showed that patients with BD had a significantly higher frequency of the GG genotype and G allele, and a lower frequency of the AG genotype as compared with controls. Functional experiments showed an increased CD11c expression and increased production of TNF-α and IL-1beta by LPS stimulated PBMCs in GG carriers of CD11c rs2929 compared to AA/AG carriers. Our study provides evidence that CD6 and CD11c are involved in the susceptibility to BD in a Chinese Han population. PMID:27108704

  19. Gender, body mass index, and PPARγ polymorphism are good indicators in hyperuricemia prediction for Han Chinese.

    PubMed

    Lee, Ming-Fen; Liou, Tsan-Hon; Wang, Weu; Pan, Wen-Harn; Lee, Wei-Jei; Hsu, Chung-Tan; Wu, Suh-Fen; Chen, Hsin-Hung

    2013-01-01

    Hyperuricemia is closely associated with obesity and metabolic abnormalities, which is also an independent risk factor for cardiovascular diseases. The PPARγ gene, which is linked to obesity and metabolic abnormalities in Han Chinese, might be considered a top candidate gene that is involved in hyperuricemia. This study recruited 457 participants, aged 20-40 years old, to investigate the associations of the PPARγ gene and metabolic parameters with hyperuricemia. Three tag-single nucleotide polymorphisms, rs2292101, rs4684846, and rs1822825, of the PPARγ gene were selected to explore their association with hyperuricemia. Risk genotypes on rs1822825 of the PPARγ gene exhibited statistical significance with hyperuricemia (odds ratio: 1.9; 95% confidence interval: 1.05-3.57). Although gender, body mass index (BMI), serum total cholesterol concentration, or protein intake per day were statistically associated with hyperuricemia, the combination of BMI, gender, and rs1822825, rather than that of age, serum lipid profile, blood pressure, and protein intake per day, satisfied the predictability for hyperuricemia (sensitivity: 69.3%; specificity: 83.7%) in Taiwan-born obese Han Chinese. BMI, gender, and the rs1822825 polymorphism in the PPARγ gene appeared good biomarkers in hyperuricemia; therefore, these powerful indicators may be included in the prediction of hyperuricemia to increase the accuracy of the analysis.

  20. Chromatin remodeling gene EZH2 involved in the genetic etiology of autism in Chinese Han population.

    PubMed

    Li, Jun; You, Yang; Yue, Weihua; Yu, Hao; Lu, Tianlan; Wu, Zhiliu; Jia, Meixiang; Ruan, Yanyan; Liu, Jing; Zhang, Dai; Wang, Lifang

    2016-01-01

    Autism spectrum disorder (ASD) is a group of severe neurodevelopmental disorders. Epigenetic factors play a critical role in the etiology of ASD. Enhancer of zest homolog 2 (EZH2), which encodes a histone methyltransferase, plays an important role in the process of chromatin remodeling during neurodevelopment. Further, EZH2 is located in chromosome 7q35-36, which is one of the linkage regions for autism. However, the genetic relationship between autism and EZH2 remains unclear. To investigate the association between EZH2 and autism in Chinese Han population, we performed a family-based association study between autism and three tagged single nucleotide polymorphisms (SNPs) that covered 95.4% of the whole region of EZH2. In the discovery cohort of 239 trios, two SNPs (rs740949 and rs6464926) showed a significant association with autism. To decrease false positive results, we expanded the sample size to 427 trios. A SNP (rs6464926) was significantly associated with autism even after Bonferroni correction (p=0.008). Haplotype G-T (rs740949 and rs6464926) was a risk factor for autism (Z=2.655, p=0.008, Global p=0.024). In silico function prediction for SNPs indicated that these two SNPs might be regulatory SNPs. Expression pattern of EZH2 showed that it is highly expressed in human embryonic brains. In conclusion, our findings demonstrate that EZH2 might contribute to the genetic etiology of autism in Chinese Han population.

  1. IMPA2 polymorphisms and risk of ischemic stroke in a northwest Han Chinese population

    PubMed Central

    Ma, Qiaoya; Yang, Ying; Na, Yuyan; Jin, Tianbo; Xue, Yidong; Shi, Yuting; Li, Chen; Zhang, Wanggang

    2016-01-01

    Genetic association analysis has suggested that IMPA2 is a susceptibility gene for ischemic stroke (IS). To explore the association between IMPA2 polymorphisms and the risk of IS in a Han Chinese population, candidate gene association was performed using data from a case-control study of 488 IS patients and 503 control subjects. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the association, and associations were evaluated under dominant, recessive, and additive genetic models using PLINK software. There was a statistically significant difference in the “TC” genotype frequency of the IMPA2 polymorphism rs589247, between cases and controls (50.0% vs. 45.3%). Under the dominant model, rs589247 was associated with an increased risk of IS (OR=1.32, 95%CI: 1.01-1.73; P=0.040). There were no other associations between any of the seven additional IMPA2 polymorphisms and IS risk. This study is the first to find a correlation between an IMPA2 polymorphism and IS risk in a northwest Han Chinese population. These results may help to elucidate the molecular pathogenesis of this disease, and could potentially be used to predict IS risk. However, further studies are still needed to validate this association in other populations and with larger sample sizes. PMID:27661109

  2. Single nucleotide polymorphisms of TNFAIP3 are associated with systemic lupus erythematosus in Han Chinese population.

    PubMed

    Han, J-W; Wang, Y; Li, H-B; Alateng, C; Bai, Y-H; Sun, Z-Q; Lv, X-X; Wu, R-N

    2016-04-01

    The polymorphisms of tumour necrosis factor alpha-induced protein 3 (TNFAIP3) have been found to associate with several autoimmune diseases. This study aimed to explore the association of single nucleotide polymorphisms (SNPs) of TNFAIP3 gene with systemic lupus erythematosus (SLE) in Han Chinese. Thirty-two SNPs were genotyped in 284 patients with SLE and 630 controls using the ligation detection reaction (LDR) method. The quality control steps and statistical analyses were performed using the PLINK 1.07 package and HAPLOVIEW software. We found that 13 SNPs in TNFAIP3 showed significant association with SLE (P < 1.85 × 10(-3)), and all of them were in high linkage disequilibrium (LD). After conditioning on the SNP rs2230926, other 12 SNPs did not show association (P > 0.27). All 13 SNPs showed most significant association in the dominant model. In haplotype analysis, a long risk SNP haplotype (GCCCGTGTCATGG) showed most significant association (P = 1.00 × 10(-4)). In conclusion, our data suggest that TNFAIP3 is a susceptible gene for SLE in the Han Chinese population.

  3. Association of STAT4 polymorphisms with hepatitis B virus infection and clearance in Chinese Han population.

    PubMed

    Jiang, Xianzhong; Su, Kunkai; Tao, Jingjing; Fan, Rongli; Xu, Yi; Han, Haijun; Li, Lanjuan; Li, Ming D

    2016-11-01

    Genome-wide association study indicates that STAT4 is a plausible candidate for an association study with HBV-related liver diseases. We aimed to examine the roles of STAT4 polymorphisms on HBV-related liver diseases in a Chinese Han population. We selected 13 SNPs in STAT4 based on the HapMap database to investigate their associations in 3,033 participants. SNP rs7574865 was significantly associated with HBV infection [odds ratio (OR) 1.15; 95 % confidence interval (CI) 1.00, 1.31; P = 0.046] and clearance (OR 1.17; 95 % CI 1.02, 1.33; P = 0.028). Further, haplotype-based association analysis indicated that the haplotype CTCTT, formed by SNPs rs8179673, rs7574865, rs4274624, rs11889341, and rs10168266, was significantly associated with HBV infection (OR 0.87; 95 % CI 0.76, 0.99; P = 0.022) and clearance (OR 0.86; 95 % CI 0.75, 0.99; P = 0.018). Bioinformatics analysis of these SNPs predicted that they participate in transcriptional regulation. Taken together, our findings demonstrate that variants in STAT4 play a critical role in HBV infection and clearance in the Chinese Han population.

  4. The Association between the LPA Gene Polymorphism and Coronary Artery Disease in Chinese Han Population

    PubMed Central

    Song, Zi-Kai; Wu, Hai-Di; Cao, Hong-Yan

    2014-01-01

    Lp(a) has been well known as an independent risk factor for coronary artery disease (CAD). The LPA gene, as it encodes apo(a) of the Lp(a) lipoprotein particle, was associated with increased risk of CAD. The purpose of this study was to analyze the relationship between the polymorphisms of LPA gene and CAD in Chinese Han population. Five SNPs (rs1367211, rs3127596, rs6415085, rs9347438, and rs9364559) in the LPA gene were genotyped using Sequenom MassARRAY time-of-flight mass spectrometer (TOF) in 560 CAD patients as case group and 531 non-CAD subjects as control group. The numbers of these two groups were from Chinese Han ancestry. The results showed that allele (P = 0.046) and genotype (P = 0.026) of rs9364559 in the LPA gene was associated with CAD. The frequency of rs9364559 minor allele (G) in case group was obviously higher than that in control group. Results of haplotype analysis showed that 4 haplotypes which contained rs9364559-G were associated with increased risk of CAD in this population. This study explored rs9364559 in the LPA gene may be associated with the pathogenesis of CAD; and the risk of CAD might be higher in the population carrying 4 haplotypes of different blocks in the LPA gene. PMID:24790998

  5. Genetic association between NRG1 and schizophrenia, major depressive disorder, bipolar disorder in Han Chinese population.

    PubMed

    Wen, Zujia; Chen, Jianhua; Khan, Raja Amjad Waheed; Song, Zhijian; Wang, Meng; Li, Zhiqiang; Shen, Jiawei; Li, Wenjin; Shi, Yongyong

    2016-04-01

    Schizophrenia, major depressive disorder, and bipolar disorder are three major psychiatric disorders affecting around 0.66%, 3.3%, and 1.5% of the Han Chinese population respectively. Several genetic linkage analyses and genome wide association studies identified NRG1 as a susceptibility gene of schizophrenia, which was validated by its role in neurodevelopment, glutamate, and other neurotransmitter receptor expression regulation. To further investigate whether NRG1 is a shared risk gene for major depressive disorder, bipolar disorder as well as schizophrenia, we performed an association study among 1,248 schizophrenia cases, 1,056 major depression cases, 1,344 bipolar disorder cases, and 1,248 controls. Totally 15 tag SNPs were genotyped and analyzed, and no population stratification was found in our sample set. Among the sites, rs4236710 (corrected Pgenotye  = 0.015) and rs4512342 (Pallele  = 0.03, Pgenotye  = 0.045 after correction) were associated with schizophrenia, and rs2919375 (corrected Pgenotye  = 0.004) was associated with major depressive disorder. The haplotype rs4512342-rs6982890 showed association with schizophrenia (P = 0.03 for haplotype "TC" after correction), and haplotype rs4531002-rs11989919 proved to be a shared risk factor for both major depressive disorder ("CC": corrected P = 0.009) and bipolar disorder ("CT": corrected P = 0.003). Our results confirmed that NRG1 was a shared common susceptibility gene for major mental disorders in Han Chinese population.

  6. Genetic polymorphisms in ALDH2 are associated with drug addiction in a Chinese Han population.

    PubMed

    Zhang, Chan; Ding, Heng; Cheng, Yujing; Chen, Wanlu; Li, Qi; Li, Qing; Dai, Run; Luo, Manlin

    2017-01-31

    We investigated the association between single nucleotide polymorphisms (SNPs) in ALDH2, which has been associated with alcohol dependence and several types of diseases, and the risk of drug addiction in a Chinese Han population. In a case-control study that included 692 cases and 700 healthy controls, eight SNPs in ALDH2 were selected and genotyped using the Sequenom MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression after adjusting for age and gender. We determined that rs671 is significantly associated with a 1.551-fold increased drug addiction risk (95% CI = 1.263-1.903; p < 0.001). In the genetic model analysis, we found that rs671 is associated with an increased risk of drug addiction under additive, dominant and recessive models (p < 0.001), while rs886205, rs441 and rs4646778 displayed a decreased drug addiction risk under additive and recessive model, respectively (p < 0.05). SNP rs671 remained significant after Bonferroni correction (p<0.00125). Additionally, we observed that haplotype "GTCAC" was associated with increased drug addiction risk (OR = 1.668; 95% CI, 1.328-2.094, p < 0.001); in contrast, "ATCGC" was a protective haplotype for drug addiction risk (OR = 0.444; 95% CI, 0.281-0.704, p < 0.001). Our findings showed that ALDH2 polymorphisms are significantly associated with the risk of drug addiction in the Chinese Han population.

  7. Genetic variants in TERT are associated with risk of gastric cancer in a Chinese Han population

    PubMed Central

    Duan, Xianglong; Cao, Wei; Wang, Lijie; Liu, Sida; Liu, Zhao; Zhang, Bolun; Yang, Hua; Feng, Tian; Zhang, Jiayi; Zhang, Xiyang; Long, Yanbin; Jin, Tianbo

    2016-01-01

    Telomerase reverse transcriptase (TERT) is a gene within the cancer susceptibility region located at Chr5p15.33, which is associated with multiple cancer types. In this study, we validated the association between TERT polymorphisms and gastric cancer (GC) risk with a case-control study in a Chinese Han population. A total of 302 GC patients and 300 control individuals were recruited. We identified three single nucleotide polymorphisms (SNPs) in TERT that were associated with GC. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated in logistic regression models after adjusting for age and gender to assess the association. The minor alleles of three SNPs were associated with increased GC risk inallelic model analysis. For two of the SNPs, rs10069690 and rs2853676,, the dominant and additive model frequencies were higher in GC cases compared to controls. Further haplotype analysis revealed a protective effect of haplotype “CG” of the TERT gene, while the haplotype “TA” increased GC risk.Our resultsprovide new evidence for the association between TERT and GC susceptibility in the Chinese Han population. PMID:27825130

  8. ETS1 variants confer susceptibility to ankylosing spondylitis in Han Chinese

    PubMed Central

    2014-01-01

    Introduction ETS1 is a negative regulator of the Th17 differentiation gene and plays a central role in the pathogenesis of autoimmune diseases. We aimed to investigate whether polymorphisms in ETS1 confer susceptibility to ankylosing spondylitis (AS) in Han Chinese. Methods We selected seven single nucleotide polymorphisms (SNPs) within ETS1 based on HapMap data and previous genome-wide association study. Genotyping involved the TaqMan method in 1,015 patients with AS and 1,132 healthy controls from Shandong Province, and 352 AS patients and 400 healthy controls from Ningxia, a northwest region in China. Gene expression was determined by real-time PCR. Results The SNP rs1128334 was strongly associated with AS (odds ratio 1.204, 95% confidence interval 1.06-1.37; P = 0.005). This association was confiexrmed in the Ningxia population (P = 0.015). Carriers of the haplotype TAT for rs12574073, rs1128334 and rs4937333 were associated with increased risk of AS and haplotype CGC with reduced risk as compared to controls. In addition, ETS1 expression was lower in AS patients than controls. The risk allele A of rs1128334 and haplotype A-T of rs1128334 and rs4937333 were associated with decreased expression of ETS1. Conclusions Common variants in ETS1 may contribute to AS susceptibility in Han Chinese people. PMID:24708692

  9. HLA-A gene polymorphisms contribute to osteoporosis susceptibility in postmenopausal Han Chinese women.

    PubMed

    Li, S M; Guo, H; Yang, H J; Lv, M Q; Zhou, D X

    2015-08-28

    Osteoporosis is a common disease characterized by low bone mineral density, deterioration in bone microarchitecture, and increased fracture risk and is more prevalent in postmenopausal women. HLA is a complex gene family; previous studies have shown that it plays an important role in the pathogenesis of osteoporosis among Japanese and Greek populations. Prompted by these findings, this study was designed to explore the associations between HLA-A gene polymorphisms and postmenopausal osteoporosis in the Han Chinese population. The polymerase chain reaction-sequence-based typing method was used for DNA genotyping at the HLA-A locus in 70 patients with postmenopausal osteoporosis and 73 healthy controls. We identified 17 HLA-A alleles in patients with postmenopausal osteoporosis and 20 HLA-A alleles in control subjects. Furthermore, we found that the frequency of the HLA-A* 02:07 allele was significantly higher in patients with postmenopausal osteoporosis than in control subjects (P = 0.023), and the relative risk was 4.065 (95% confidence interval = 1.109-14.893). Our study provides supportive evidence for the contribution of HLA-A gene polymorphisms to the susceptibility to postmenopausal osteoporosis and suggests that HLA-A* 02:07 is likely an important genetic risk factor for postmenopausal osteoporosis in the Han Chinese population.

  10. Association between RTEL1 gene polymorphisms and COPD susceptibility in a Chinese Han population

    PubMed Central

    Ding, Yipeng; Xu, Heping; Yao, Jinjian; Xu, Dongchuan; He, Ping; Yi, Shengyang; Li, Quanni; Liu, Yuanshui; Wu, Cibing; Tian, Zhongjie

    2017-01-01

    Objective We investigated the association between single-nucleotide polymorphisms in regulation of telomere elongation helicase 1 (RTEL1), which has been associated with telomere length in several brain cancers and age-related diseases, and the risk of chronic obstructive pulmonary disease (COPD) in a Chinese Han population. Methods In a case–control study that included 279 COPD cases and 290 healthy controls, five single-nucleotide polymorphisms in RTEL1 were selected and genotyped using the Sequenom MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression after adjusting for age and gender. Results In the genotype model analysis, we determined that rs4809324 polymorphism had a decreased effect on the risk of COPD (CC versus TT: OR =0.28; 95% CI =0.10–0.82; P=0.02). In the genetic model analysis, we found that the “C/C” genotype of rs4809324 was associated with a decreased risk of COPD based on the codominant model (OR =0.33; 95% CI =0.13–0.86; P=0.022) and recessive model (OR =0.32; 95% CI =0.12–0.80; P=0.009). Conclusion Our data shed new light on the association between genetic polymorphisms of RTEL1 and COPD susceptibility in the Chinese Han population. PMID:28360516

  11. Ancient DNA Reveals That the Genetic Structure of the Northern Han Chinese Was Shaped Prior to 3,000 Years Ago

    PubMed Central

    Zhang, Quan-Chao; Li, Hong-Jie; Cui, Ying-Qiu; Xu, Zhi; Jin, Li; Zhou, Hui; Zhu, Hong

    2015-01-01

    The Han Chinese are the largest ethnic group in the world, and their origins, development, and expansion are complex. Many genetic studies have shown that Han Chinese can be divided into two distinct groups: northern Han Chinese and southern Han Chinese. The genetic history of the southern Han Chinese has been well studied. However, the genetic history of the northern Han Chinese is still obscure. In order to gain insight into the genetic history of the northern Han Chinese, 89 human remains were sampled from the Hengbei site which is located in the Central Plain and dates back to a key transitional period during the rise of the Han Chinese (approximately 3,000 years ago). We used 64 authentic mtDNA data obtained in this study, 27 Y chromosome SNP data profiles from previously studied Hengbei samples, and genetic datasets of the current Chinese populations and two ancient northern Chinese populations to analyze the relationship between the ancient people of Hengbei and present-day northern Han Chinese. We used a wide range of population genetic analyses, including principal component analyses, shared mtDNA haplotype analyses, and geographic mapping of maternal genetic distances. The results show that the ancient people of Hengbei bore a strong genetic resemblance to present-day northern Han Chinese and were genetically distinct from other present-day Chinese populations and two ancient populations. These findings suggest that the genetic structure of northern Han Chinese was already shaped 3,000 years ago in the Central Plain area. PMID:25938511

  12. The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.

    PubMed

    Zhang, A-Mei; Bi, Rui; Hu, Qiu-Xiang; Fan, Yu; Zhang, Qingjiong; Yao, Yong-Gang

    2017-04-01

    While many patients with hereditary optic neuropathies are caused by mitochondrial DNA (mtDNA) mutations of Leber's hereditary optic neuropathy (LHON), a significant proportion of them does not have mtDNA mutation and is caused by mutations in genes of the nuclear genome. In this study, we investigated whether the OPA1 gene, which is a pathogenic gene for autosomal dominant optic atrophy (ADOA), is frequently mutated in these patients. We sequenced all 29 exons of the OPA1 gene in 105 Han Chinese patients with suspected LHON. mtDNA copy number was quantified in blood samples from patients with and without OPA1 mutation and compared to healthy controls. In silico program-affiliated prediction, evolutionary conservation analysis, and in vitro cellular assays were performed to show the potential pathogenicity of the mutations. We identified nine OPA1 mutations in eight patients; six of them are located in exons and three are located in splicing sites. Mutation c.1172T > G has not been reported before. When we combined our data with 193 reported Han Chinese patients with optic neuropathy and compared to the available data of 4327 East Asians by the Exome Aggregation Consortium (ExAC), we found a significant enrichment of potentially pathogenic OPA1 mutations in Chinese patients. Cellular assays for OPA1 mutants c.869G > A and c.2708_2711del showed abnormalities in OPA1 isoforms, mitochondrial morphology, and cellular reactive oxygen species (ROS) level. Our results indicated that screening OPA1 mutation is needed for clinical diagnosis of patients with suspected optic neuropathy.

  13. [The archaic pronunciation of materia medica from Central Plains in the Han dynasty retained in Chinese medicinal business in Taiwan].

    PubMed

    Zhang, Xian-Zhe; Cai, Gui-Hua

    2004-10-01

    Chinese traditional medicine took its root in Taiwan together with the culture of Central Plains since our ancestors traveled to Taiwan during the turn of the Ming-Qing dynasties. For 400 years, the profession of Chinese medicine continues to develop through the transmission from fathers to sons, from tutors to disciples. During our contacts with Chinese medicinal businessmen, we found that this routinely closed and time-honored profession retained the archaic pronunciation of materia medica from Central Plains in the Han dynasty. This is a living database for studying ancient Chinese language.

  14. Pharmacokinetics of Lidocaine Hydrochloride Metabolized by CYP3A4 in Chinese Han Volunteers Living at Low Altitude and in Native Han and Tibetan Chinese Volunteers Living at High Altitude.

    PubMed

    Zhang, Juanling; Zhu, Junbo; Yao, Xingchen; Duan, Yabin; Zhou, Xuejiao; Yang, Meng; Li, Xiangyang

    2016-01-01

    To investigate the pharmacokinetics of lidocaine hydrochloride metabolized by cytochrome P450 3A4 (CYP3A4) in Chinese Han volunteers living at low altitude (LA) and in native Han and Tibetan Chinese volunteers living at high altitude, lidocaine hydrochloride 10 mg was given by intramuscular injection to 3 groups: Han volunteers living at LA, and native Han and Tibetan volunteers living at a high altitude. Blood samples were collected before the (baseline) study drug was given and at 0.25, 0.5, 1.0, 1.5, 2.0, 3.0, 4.0, 6.0, 8.0 h after study drug administration. Lidocaine hydrochloride in plasma was determined by RP-HPLC. Pharmacokinetics parameters of lidocaine hydrochloride showed that there were no significant difference between the native Han and Tibetan volunteers, but the t(1/2) was 29.8 and 29.8% higher in 2 groups, respectively, than in the LA group. To study related mechanism, the effects of exposure to chronic high-altitude hypoxia (CHH) on the activity and expression of CYP3A1 were examined in rats. Rats were divided into LA, chronic moderate altitude hypoxia, and CHH groups. CHH caused significant decreases in the activity and protein and mRNA expression of rat CYP3A1 in vivo. This study found significant changes in the disposition of lidocaine hydrochloride in native healthy Tibetan and Han Chinese subjects living at a high altitude in comparison to healthy Han Chinese subjects living at LA, it might be due to significant decreases in the activity and protein and mRNA expression of CYP3A4 under CHH condition.

  15. BFH-OST, a new predictive screening tool for identifying osteoporosis in postmenopausal Han Chinese women

    PubMed Central

    Ma, Zhao; Yang, Yong; Lin, JiSheng; Zhang, XiaoDong; Meng, Qian; Wang, BingQiang; Fei, Qi

    2016-01-01

    Purpose To develop a simple new clinical screening tool to identify primary osteoporosis by dual-energy X-ray absorptiometry (DXA) in postmenopausal women and to compare its validity with the Osteoporosis Self-Assessment Tool for Asians (OSTA) in a Han Chinese population. Methods A cross-sectional study was conducted, enrolling 1,721 community-dwelling postmenopausal Han Chinese women. All the subjects completed a structured questionnaire and had their bone mineral density measured using DXA. Using logistic regression analysis, we assessed the ability of numerous potential risk factors examined in the questionnaire to identify women with osteoporosis. Based on this analysis, we build a new predictive model, the Beijing Friendship Hospital Osteoporosis Self-Assessment Tool (BFH-OST). Receiver operating characteristic curves were generated to compare the validity of the new model and OSTA in identifying postmenopausal women at increased risk of primary osteoporosis as defined according to the World Health Organization criteria. Results At screening, it was found that of the 1,721 subjects with DXA, 22.66% had osteoporosis and a further 47.36% had osteopenia. Of the items screened in the questionnaire, it was found that age, weight, height, body mass index, personal history of fracture after the age of 45 years, history of fragility fracture in either parent, current smoking, and consumption of three of more alcoholic drinks per day were all predictive of osteoporosis. However, age at menarche and menopause, years since menopause, and number of pregnancies and live births were irrelevant in this study. The logistic regression analysis and item reduction yielded a final tool (BFH-OST) based on age, body weight, height, and history of fracture after the age of 45 years. The BFH-OST index (cutoff =9.1), which performed better than OSTA, had a sensitivity of 73.6% and a specificity of 72.7% for identifying osteoporosis, with an area under the receiver operating

  16. ITIH family genes confer risk to schizophrenia and major depressive disorder in the Han Chinese population.

    PubMed

    He, Kuanjun; Wang, Qingzhong; Chen, Jianhua; Li, Tao; Li, Zhiqiang; Li, Wenjin; Wen, Zujia; Qiang, Yu; Wang, Meng; Shen, Jiawei; Song, Zhijian; Ji, Jue; Feng, Guoyin; Qi, Shuguang; Lin, He; Shi, Yongyong; Cheng, Zaohuo

    2014-06-03

    As a major extracellular matrix component, ITIHs played an important role in inflammation and carcinogenesis. Several genome-wide association studies have reported that some positive signals which were derived from the tight linkage disequilibrium region on chromosome 3p21 were associated with both schizophrenia and bipolar disorders in the Caucasian population. To further investigate whether this genomic region is also a susceptibility locus of schizophrenia and major depressive disorder in the Han Chinese population, we conducted this study by recruiting 1235 schizophrenia patients, 1045 major depressive disorder patients and 1235 healthy control subjects in the Han Chinese samples for a case-control study. We genotyped seven SNPs within this region using TaqMan® technology. We found that rs2710322 was significantly associated with schizophrenia (adjusted P(allele) = 0.0018, adjusted P(genotype) = 0.006, OR [95% CI] = 1.278 [1.117-1.462]) while rs1042779 was weakly associated with schizophrenia (adjusted P(allele) = 0.048, OR [95% CI] = 1.164 [1.040-1.303]) and major depressive disorder (adjusted P(allele) = 0.042, OR [95% CI] = 1.178 [1.047-1.326]); it was also our finding that rs3821831 was positively associated with major depressive disorder (adjusted P(allele) = 0.003, adjusted P(genotype) = 0.006, OR [95% CI] = 1.426 [1.156-1.760]). Furthermore, no haplotype was found to be associated with schizophrenia and major depressive disorder. Via the association analysis which combines the schizophrenia and major depressive disorder cases, we also notice that rs1042779 and rs3821831 were significantly associated with combined cases (rs1042779: adjusted P(allele) = 0.012, adjusted P(genotype) = 0.018, OR [95% CI] = 1.171 [1.060-1.292]; rs3821831:adjusted P(genotype) = 0.012, OR [95% CI] = 1.193 [1.010-1.410]). Our results revealed that the shared genetic risk factors of both schizophrenia and major depressive disorder exist in ITIH family genes in the Han Chinese

  17. [Genetic polymorphisms of five STR loci on chromosome 21 in Chinese Han population].

    PubMed

    Chen, Zhen-Bin; Zhu, Jin-Ling; Yan, Mei; Liang, Yan; Zhou, Yan; Tan, Shu-Zhen; Xiao, Bai; Liu, Jing-Zhong

    2004-07-01

    To elucidate the genetic polymorphisms of five STR loci on chromosome 21 in Chinese Han population and construct a preliminary database, EDTA-blood specimens were collected from unrelated individuals in Beijing. The DNAs were extracted with Chelex method and were amplified by PCR. The PCR products were analyzed by the PAG electrophoresis or by the approach of the automated fluorescent detection. The five STR loci consist of simple repeat motif and its distributions of genotypes are agreement with Hardy-Weinberg equation. Its polymorphism information content is all over 0.50. The obtained data can not only be used as evidences for genetic diagnosis of Down Syndrome, but also for calculating the probabilities in the paternity test and individual identification.

  18. Suicidal risk factors of recurrent major depression in Han Chinese women.

    PubMed

    Zhu, Yuzhang; Zhang, Hongni; Shi, Shenxun; Gao, Jingfang; Li, Youhui; Tao, Ming; Zhang, Kerang; Wang, Xumei; Gao, Chengge; Yang, Lijun; Li, Kan; Shi, Jianguo; Wang, Gang; Liu, Lanfen; Zhang, Jinbei; Du, Bo; Jiang, Guoqing; Shen, Jianhua; Zhang, Zhen; Liang, Wei; Sun, Jing; Hu, Jian; Liu, Tiebang; Wang, Xueyi; Miao, Guodong; Meng, Huaqing; Li, Yi; Hu, Chunmei; Li, Yi; Huang, Guoping; Li, Gongying; Ha, Baowei; Deng, Hong; Mei, Qiyi; Zhong, Hui; Gao, Shugui; Sang, Hong; Zhang, Yutang; Fang, Xiang; Yu, Fengyu; Yang, Donglin; Liu, Tieqiao; Chen, Yunchun; Hong, Xiaohong; Wu, Wenyuan; Chen, Guibing; Cai, Min; Song, Yan; Pan, Jiyang; Dong, Jicheng; Pan, Runde; Zhang, Wei; Shen, Zhenming; Liu, Zhengrong; Gu, Danhua; Wang, Xiaoping; Liu, Xiaojuan; Zhang, Qiwen; Li, Yihan; Chen, Yiping; Kendler, Kenneth Seedman; Flint, Jonathan; Liu, Ying

    2013-01-01

    The relationship between suicidality and major depression is complex. Socio- demography, clinical features, comorbidity, clinical symptoms, and stressful life events are important factors influencing suicide in major depression, but these are not well defined. Thus, the aim of the present study was to assess the associations between the above-mentioned factors and suicide ideation, suicide plan, and suicide attempt in 6008 Han Chinese women with recurrent major depression (MD). Patients with any suicidality had significantly more MD symptoms, a significantly greater number of stressful life events, a positive family history of MD, a greater number of episodes, a significant experience of melancholia, and earlier age of onset. Comorbidity with dysthymia, generalized anxiety disorder (GAD), social phobia, and animal phobia was seen in suicidal patients. The present findings indicate that specific factors act to increase the likelihood of suicide in MD. Our results may help improve the clinical assessment of suicide risk in depressed patients, especially for women.

  19. Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2

    PubMed Central

    He, Dan; Rong, Pengfei; Xu, Hongbo; Yuan, Lamei; Li, Liu; Lu, Qian; Guo, Yi

    2016-01-01

    Osteopetrosis is a heritable bone condition featuring increased bone density due to defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified. This variant cosegregated with the disorder in the family but was not observed in 800 controls. The data indicate that exome sequencing is a powerful and effective molecular diagnostic tool for detecting mutations in osteopetrosis, which is a genetically and clinically heterogeneous disorder. This discovery broadens the CLCN7 gene mutation spectrum and has important implications for clinical therapeutic regimen decisions, prognosis evaluations, and antenatal diagnoses. PMID:27325559

  20. Population study and mutation analysis for 28 short tandem repeat loci in southwest Chinese Han population.

    PubMed

    Su, Qin; Jin, Bo; Luo, Haibo; Li, Yingbi; Wu, Jin; Yan, Jing; Hou, Yiping; Liang, Weibo; Zhang, Lin

    2016-11-01

    Short tandem repeat (STR) system is the most widely used genetic markers in modem forensic practice. Because of the relatively unstable molecular structure, STRs show a high mutation rate. In the current study, we report 169 mutation events of 13 CODIS and 15 non-CODIS STR loci that were found in 5569 cases of trios and duos paternity test. Our result indicated that locus-specific mutation rate varied among different populations, geometric means of the longest run of perfect repeats (LRPR) and heterozygosity. Along with previous published data, a forensic dataset for allele frequencies and locus-specific mutation rates of 13 CODIS and 15 non-CODIS STR loci from southwest Chinese Han population has been established. The mutation rate data have important implications in interpreting forensic individual identification and paternity testing.

  1. The role of mitochondrial genome in essential hypertension in a Chinese Han population.

    PubMed

    Zhu, Hai-Yan; Wang, Shi-Wen; Martin, Lisa J; Liu, Li; Li, Yan-Hua; Chen, Rui; Wang, Lin; Zhang, Min-Lu; Benson, D Woodrow

    2009-11-01

    Earlier genetic studies of essential hypertension have focused on nuclear genes or family-based mitochondrial screening in Caucasian and African-American pedigrees. The role of mitochondria in sporadic Chinese hypertensives is unknown. We sequenced mitochondrial genomes in 306 age- and gender-balanced Chinese Han hypertensives and controls. In 153 hypertensives, putative functional changes included 4 changes in rRNA genes, 11 changes in tRNA genes and 25 amino-acid substitutions. The remaining variants were synonymous changes or non-coding regions. In the 153 controls, 2 base changes in the tRNA genes and 13 amino-acid substitutions were found. A8701G in ATP6 gene (belongs to haplogroup M; P=0.0001) and C8414T in ATP8 gene (belongs to haplogroup D; P=0.01) were detected significantly different in the cases and controls. Interestingly, the cases were more likely to have two or more amino-acid changes and RNA variants compared with the controls (57.43 versus 23.81%, P=0.0001). In addition, several variants we found were highly conserved and/or specifically located at the 3' end adjacent to the anticodon, which may contribute to the stabilization of structure, and thus lead to the decrease of tRNA metabolism. In conclusion, mitochondrial SNPs (mtSNPs) may affect the course of hypertension in sporadic Chinese hypertensives. Some specific mtSNP within mitochondria may have potential role in the Chinese hypertensives due to their function. Synergetic interaction between mitochondrial mtSNPs and/or haplogroups is needed to be investigated in the future.

  2. The CD226 gene in susceptibility of rheumatoid arthritis in the Chinese Han population.

    PubMed

    Du, Yan; Shen, Ling-Xun; Yu, Li-Kai; Song, You; Zhu, Jian-Fang; Du, Rong

    2012-05-01

    Recent case-control studies have identified some loci that are associated with rheumatoid arthritis (RA). Among these, a single nucleotide polymorphism (SNP), Gly307Ser (rs763361), in the CD226 gene was first discovered to confer the risk of RA in populations with European and Colombian ancestry. Because the effect of genetic factors varies in different races, the association between RA and CD226 is yet to be evaluated in other non-European populations. Here, we report the significant association between CD226 and RA in a Chinese population of 423 randomly enrolled individuals. The statistical results show that the rs763361 SNP in the CD226 gene is significantly associated with RA in the Chinese population group (P (obs) = 0.005, odds ratio = 1.52). After adjusting for sex and age using multivariate logistics regression analysis, the association is still positive (P (adj) = 0.029, odds ratio = 1.45). Meta-analysis confirms the association between rs763361 and RA (overall P < 0.001, overall odds ratio = 1.12). The test of odds ratio heterogeneity also suggests that the rs763361 SNP confers the same risk of RA in both the Chinese and the Colombian populations, and indicates that rs763361 may play a more important role in non-European populations compared with the European population (P = 0.031). These results demonstrate a genetic association between the CD226 gene and RA in a Chinese Han population with a potentially greater genetic effect than in the European population.

  3. Genetic polymorphism and evolutionary differentiation of Eastern Chinese Han: a comprehensive and comparative analysis on KIRs

    PubMed Central

    Yin, Caiyong; Hu, Li; Huang, Huijie; Yu, Yanfang; Li, Zheng; Ji, Qiang; Kong, Xiaochao; Wang, Zhongqun; Yan, Jinchuan; Yan, Jiangwei; Zhu, Bofeng; Chen, Feng

    2017-01-01

    Killer cell immunoglobulin-like receptor genes, namely KIRs, cluster together within the 160 kb genomic DNA region. In this study, we used PCR-SSP approach and successfully identified the genotype of 17 KIR genes in 123 independent healthy donors residing in the Jiangsu province, China. All individuals were positive at the 7 genes. The observed carrier gene frequencies (OFs) of remaining 10 KIRs ranged from 14.63% (KIR2DS3) to 95.93% (KIR3DL1). We found 27 distinct genotypes excluding KIR1D. The most frequent occurred in 63 individuals (51.22%). The linkage disequilibrium analysis signified 29 positive and 6 negative relations in 45 pairwise comparisons. To study population differentiation, we drew a Heatmap based on the data of KIRs from 59 populations and conducted Hierarchical Clustering by Euclidean distances. We next validated our results by estimating pairwise DA distances and illustrating a Neighbor-Joining tree, as well as a MDS plot covering 3 additional Chinese Han groups. The phylogenetic reconstruction and cluster analysis strongly indicated a genetically close relationship between Eastern and Jilin Hans. In conclusion, the present study provided a meritorious resource of KIR genotyping for population genetics, and could be helpful to uncover the genetic mechanism of KIRs in immune disease in the future. PMID:28205529

  4. Associations between polymorphisms of HLA-B gene and postmenopausal osteoporosis in Chinese Han population.

    PubMed

    Li, S-M; Zhou, D-X; Liu, M-Y

    2014-08-01

    Osteoporosis is a systemic skeletal disease, which is more prevalent in postmenopausal women. Osteoporosis likely develops beginning with genetic risk. This study explored the relationships between polymorphisms of HLA-B gene and postmenopausal osteoporosis in a Chinese Han population. Polymerase chain reaction sequence-based typing (PCR-SBT) method was used for DNA typing at HLA-B locus in 70 patients with postmenopausal osteoporosis and 73 healthy controls in female Han population of Shaanxi Province, situated in north-western China. We found that 40 HLA-B alleles in postmenopausal osteoporosis patients and control subjects, respectively. Furthermore, the frequency of HLA-B* 3501 allele was significantly higher in postmenopausal osteoporosis patients than in the control group (P = 0.033), and the relative risk was 7.632 (95% CI: 0.927-62.850). Our results suggest that HLA-B* 3501 was likely an important risk factor for postmenopausal osteoporosis. As different populations have different HLA polymorphisms, further investigation of the relationship of various HLA genes and osteoporosis with larger sample size is still necessary in the future.

  5. Genetic polymorphism and evolutionary differentiation of Eastern Chinese Han: a comprehensive and comparative analysis on KIRs.

    PubMed

    Yin, Caiyong; Hu, Li; Huang, Huijie; Yu, Yanfang; Li, Zheng; Ji, Qiang; Kong, Xiaochao; Wang, Zhongqun; Yan, Jinchuan; Yan, Jiangwei; Zhu, Bofeng; Chen, Feng

    2017-02-16

    Killer cell immunoglobulin-like receptor genes, namely KIRs, cluster together within the 160 kb genomic DNA region. In this study, we used PCR-SSP approach and successfully identified the genotype of 17 KIR genes in 123 independent healthy donors residing in the Jiangsu province, China. All individuals were positive at the 7 genes. The observed carrier gene frequencies (OFs) of remaining 10 KIRs ranged from 14.63% (KIR2DS3) to 95.93% (KIR3DL1). We found 27 distinct genotypes excluding KIR1D. The most frequent occurred in 63 individuals (51.22%). The linkage disequilibrium analysis signified 29 positive and 6 negative relations in 45 pairwise comparisons. To study population differentiation, we drew a Heatmap based on the data of KIRs from 59 populations and conducted Hierarchical Clustering by Euclidean distances. We next validated our results by estimating pairwise DA distances and illustrating a Neighbor-Joining tree, as well as a MDS plot covering 3 additional Chinese Han groups. The phylogenetic reconstruction and cluster analysis strongly indicated a genetically close relationship between Eastern and Jilin Hans. In conclusion, the present study provided a meritorious resource of KIR genotyping for population genetics, and could be helpful to uncover the genetic mechanism of KIRs in immune disease in the future.

  6. Association of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism with ischemic stroke in the Eastern Chinese Han population.

    PubMed

    Lv, Q-Q; Lu, J; Sun, H; Zhang, J-S

    2015-04-27

    The association between the MTHFR genetic polymorphism and ischemic stroke has been reported by a number of investigators. However, the results have been controversial and conflicting. The aim of this study was to explore the association between the MTHFR variants C677T and A1298C and the risk of ischemic stroke in an Eastern Chinese Han population. A total of 199 patients with ischemic stroke and 241 controls were recruited. Genotyping of the MTHFR C677T and A1298C polymorphisms was carried out using the Taqman 7900HT Sequence Detection System. The overall estimates (odds ratio: OR) for the allele (C) and genotype (AC+CC) of the A1298C polymorphism were 1.57 [95% confidence interval (CI) = 1.16-2.10], and 2.36 (95%CI = 1.39-4.00), respectively, establishing significant association of the MTHFR A1298C polymorphism with ischemic stroke. In contrast, there were no statistically significant differences compared to controls between MTHFR C677T polymorphic variants in the association ischemic stroke risk. Furthermore, haplotype-based analysis demonstrated that compared with the C-677-A-1298 haplotype, the C-677-C-1298 and T-677-C-1298 haplotypes showed significant increased risk of ischemic stroke (OR = 1.56; 95%CI = 1.07- 2.2; P = 0.02; OR = 1.76; 95%CI = 1.17-2.65; P < 0.01, respectively). We concluded that the A1298C polymorphism and the haplotypes C-677-C-1298 and T-677-C-1298 in MTHFR might modulate the risk of ischemic stroke in the Eastern Chinese Han population.

  7. Glycan Biomarkers for Rheumatoid Arthritis and Its Remission Status in Han Chinese Patients.

    PubMed

    Sebastian, Andrea; Alzain, Mohamed Ali; Asweto, Collins Otieno; Song, Haicheng; Cui, Liufu; Yu, Xinwei; Ge, Siqi; Dong, Hao; Rao, Ping; Wang, Hao; Fang, Honghong; Gao, Qing; Zhang, Jie; He, Dian; Guo, Xiuhua; Song, Manshu; Wang, Youxin; Wang, Wei

    2016-06-01

    Rheumatoid arthritis (RA), a systemic, chronic, and progressive inflammatory autoimmune disease, affects up to 1.0% of the world population doubling mortality rate of patients and is a major global health burden. Worrisomely, we lack robust diagnostics of RA and its remission status. Research with the next-generation biomarker technology platforms such as glycomics offers new promises in this context. We report here a clinical case-control study comprising 128 patients suffering from chronic RA (80.22% in remission, 19.78% active clinically) and 195 gender- and age-matched controls, with a view to the putative glycan biomarkers of RA as well as its activity or remission status in Han Chinese RA patients. Hydrophilic interaction liquid chromatography-ultra-performance liquid chromatography (HILIC-UPLC) was used for the analysis of IgG glycans. The regression model identified the glycans that predict RA status, while a receiver operating characteristic (ROC) curve analysis validated the sensitivity and prediction power. Among the total 24 glycan peaks (GP1-GP24), ROC analysis showed only GP1 prediction to be highly sensitive with an area under the curve (AUC) = 0.881. Even though GP21 and GP22 could predict active status among the RA cases (p < 0.05), they had lower sensitivity of prediction with an AUC = 0.658. Taken together, these observations suggest that GP1 might have potential as a putative biomarker for RA in the Han Chinese population, while the change in IgG glycosylation shows association with the RA active and remission states. To the best of our knowledge, this is the first glycomics study with respect to disease activity and remission states in RA.

  8. CHRNA3 genetic polymorphism and the risk of lung cancer in the Chinese Han smoking population.

    PubMed

    Zhou, Wenjing; Geng, Tingting; Wang, Huijuan; Xun, Xiaojie; Feng, Tian; Zou, Hui; Kang, Longli; Jin, Tianbo; Chen, Chao

    2015-07-01

    Lung cancer is the leading cause of cancer-related deaths worldwide that result from the combined effected of smoking exposure and genetic susceptibility. CHRNA3, a nicotinic acetylcholine receptor gene, was associated with lung cancer risk. The aim of this study was to identify whether CHRNA3 polymorphisms increase lung cancer risk directly or indirectly through smoking behavior in the Chinese Han individuals. We conducted a case-control study including 228 individuals with lung cancer and 301 healthy individuals. Seventeen known SNPs within CHRNA3 were selected for genotyping. Odds ratios (OR) and 95 % confidence interval (CI) were calculated by unconditional logistic regression with adjustment for gender and age. Two SNPs (rs8042059 and rs7177514) showed a 1.54-fold (p = 0.036; 95 % CI = 1.03-2.32) and 1.52-fold (p = 0.043; 95 % CI = 1.01-2.27) increased risk for lung cancer in smokers, respectively. Rs8042059 also showed a significant association for variant genotypes (CA/AA) compared with the wild-type genotype (CC), with an OR = 1.84 (p = 0.042; 95 % CI, 1.02-3.33) in the dominant model. In addition, the haplotype analysis found that the haplotypes "TCAC" and "CTGT," composed of rs938682, rs12914385, rs11637630, and rs2869546, were associated with a 1.79-fold and 501-fold increased lung cancer risk, respectively. However, the polymorphisms of all SNPs were not significantly different between controls and cases among general or nonsmokers population. Rs8042059 and rs7177514 may increase lung cancer risk indirectly through smoking behavior in the Chinese Han population.

  9. KCNQ1 gene polymorphisms are associated with lipid parameters in a Chinese Han population

    PubMed Central

    2010-01-01

    Background Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, and rs2283228) in KCNQ1 are reported to be associated with type 2 diabetes mellitus (T2DM), possibly caused by a reduction in insulin secretion and higher fasting glucose, but the results are inconsistent. We investigated whether these 4 genetic markers are associated with serum lipid metabolism in a middle-aged Chinese Han population. Methods We enrolled 398 consecutive patients, including 180 with premature coronary artery disease (CAD) (male < 55 years, female < 65 years) and 218 controls without documented CAD. All subjects were genotyped for 4 SNPs by using the ligase detection reaction method. Fasting blood sugar (FBS) and plasma concentrations of total cholesterol, triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), apolipoprotein A1(apo A1), and apolipoprotein B (apo B) were determined by standard biochemical methods. Main anthropometric and metabolic characteristics are analyzed among 3 genotypes at rs2283228, rs2237895, rs2237897, or rs2237892 in KCNQ1. Results The 3 genotypes AA, AC, and CC were present in rs2283228 and rs2237895, and the 3 genotypes CC, CT, and TT were present in rs2237897 and rs2237892. The minor genotypes CC at rs2283228 and TT at rs2237892 were associated with higher levels of TG (P = 0.007 and 0.026, respectively). Furthermore, subjects with the CC genotype at rs2283228 had lower levels of HDL-C and apo A1 than in the other 2 genotype groups (P = 0.052 and 0.055, respectively). No other associations were detected between these 4 SNPs and FBS or other lipid parameters. Conclusions Our data suggest that rs2283228 and rs2237892 in KCNQ1 are associated with lipid metabolism in a middle-aged Chinese Han population. PMID:20701788

  10. KALRN Rare and Common Variants and Susceptibility to Ischemic Stroke in Chinese Han Population.

    PubMed

    Dang, Meizheng; Wang, Zhenzhen; Zhang, Ruyou; Li, Xiaoying; Peng, Yanqing; Han, Xuesong; Sun, Litao; Tian, Jiawei

    2015-09-01

    Stroke is the second most common cause of mortality worldwide, and it is a major cause of physical disability. Several genome-wide association studies have yielded numerous common variants which increase the risk of ischemic stroke, including the Kalirin-coding gene, KALRN. KALRN strongly associates with early-onset coronary artery disease and atherosclerosis and plays an important role in stroke in the European population. In this study, we analyzed four KALRN gene SNPs in 503 ischemic stroke patients and 493 control subjects, separating the patients into separate research groups based on comorbidity with hypertension or diabetes and stroke type (atherosis or lacunar and combination type). We found a rare variant of KALRN, rs11712619, that associated with lacunar stroke in the northern Chinese Han population with an average-risk allele frequency 0.009 (OR 2.95, 95 % CI 1.08-8.01, p = 0.028). However, after adjusting for relevant factors, including sex, age, body mass index, dyslipidemia, alcohol consumption, and smoking, this association was not evident. Additionally, the KALRN variant rs6438833 was associated with ischemic stroke, ischemic stroke comorbid with diabetes, and lacunar stroke after adjusting for the relevant factors (p = 0.046, p = 0.019 and p = 0.046, respectively), which remained significant after 10,000 permutation procedure test (p' = 0.047, p' = 0.018 and p' = 0.048, respectively). The association of these rare and common variants of KALRN with ischemic stroke in northern Chinese Han population offers insight for potential therapeutic research.

  11. CYP7A1 genotypes and haplotypes associated with hypertension in an obese Han Chinese population.

    PubMed

    Fu, Lingyu; Zhao, Yanyan; Wu, Xiaomei; Liu, Hong; Shi, Jingpu; Lu, Jingyu; Zhou, Bo

    2011-06-01

    This study investigated the association between single-nucleotide polymorphisms (SNPs; rs3808607 and rs1125226) within the CYP7A1 promoter and hypertension susceptibility in a Han Chinese population. From 2003 through 2006, a population-based case-control study was performed in a cohort of 1187 randomly selected Han Chinese subjects. A sib-pair study for a transmission disequilibrium test analysis was carried out in 76 hypertensive (HT) families (n=312) from northeastern Liaoning province. SNPs were detected using real-time PCR. No significant differences were found in the genotype or allele frequencies of either SNP (P>0.05), with no excessive allele sharing. For rs3808607, the frequency of the AA genotype in obese hypertensive patients was 31.91%, significantly higher than in normotensive (NT) subjects (12.73%; odds ratio (OR)=3.21, 95% confidence interval (CI)=1.35-7.66). For rs3808607, the AA genotype frequency was significantly higher in obese male HT subjects (27.87%) than in matched NTs (7.41%; OR=4.83, 95% CI=1.03-22.65). After adjustment for environmental risk factors in obese participants, the AA genotype was associated with hypertension (OR=3.395, 95% CI=1.412-8.162). Among subjects with body mass index 28 kg m(-2), the HT and NT groups had significantly different frequencies of Hap I (C/C) and Hap IV (A/A). The frequencies of rs3808607 alleles in the CYP7A1 gene differed significantly between obese HT and NT men. Haplotypes I and IV were associated with hypertension in obese participants.

  12. Sexual dimorphism of the mandible in a contemporary Chinese Han population.

    PubMed

    Dong, Hongmei; Deng, Mohong; Wang, WenPeng; Zhang, Ji; Mu, Jiao; Zhu, Guanghui

    2015-10-01

    A present limitation of forensic anthropology practice in China is the lack of population-specific criteria on contemporary human skeletons. In this study, a sample of 203 maxillofacial Cone beam computed tomography (CBCT) images, including 96 male and 107 female cases (20-65 years old), was analyzed to explore mandible sexual dimorphism in a population of contemporary adult Han Chinese to investigate the potential use of the mandible as sex indicator. A three-dimensional image from mandible CBCT scans was reconstructed using the SimPlant Pro 11.40 software. Nine linear and two angular parameters were measured. Discriminant function analysis (DFA) and logistic regression analysis (LRA) were used to develop the mathematics models for sex determination. All of the linear measurements studied and one angular measurement were found to be sexually dimorphic, with the maximum mandibular length and bi-condylar breadth being the most dimorphic by univariate DFA and LRA respectively. The cross-validated sex allocation accuracies on multivariate were ranged from 84.2% (direct DFA), 83.5% (direct LRA), 83.3% (stepwise DFA) to 80.5% (stepwise LRA). In general, multivariate DFA yielded a higher accuracy and LRA obtained a lower sex bias, and therefore both DFA and LRA had their own advantages for sex determination by the mandible in this sample. These results suggest that the mandible expresses sexual dimorphism in the contemporary adult Han Chinese population, indicating an excellent sexual discriminatory ability. Cone beam computed tomography scanning can be used as alternative source for contemporary osteometric techniques.

  13. Osteoprotegerin Gene (OPG) Polymorphisms Associated with Peri-Implantitis Susceptibility in a Chinese Han Population

    PubMed Central

    Zhou, Jian; Zhao, Yimin

    2016-01-01

    Background The aim of this study was to investigate the association between T950C (rs2073617) and G1181C (rs2073618) polymorphisms of the osteoprotegerin gene (OPG) and the susceptibility of peri-implantitis in the Chinese Han population. Material/Methods 110 patients with peri-implantitis and 116 healthy persons from the Chinese Han population were included in this study using a case-control design; rs2073617 and rs2073618 in OPG were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The linkage disequilibrium (LD) and haplotype analysis were performed with Haploview software. Hardy-Weinberg equilibrium (HWE) was assessed in the control group based on the genotype distributions of OPG polymorphisms. The genotype, allele, and haplotype distribution differences between the case and control groups were analyzed by chi-square test, and the relative risk of PD was expressed by odds ratio (OR) and 95% confidence interval (CI). Results The study results showed that people carrying the CC genotype of rs2073618 were more likely to have peri-implantitis than GG genotype carriers (OR=2.18, 95% CI=1.03–4.62, p=0.04). In addition, patients with the C allele had 1.47 times the risk of suffering from peri-implantitis (OR=1.47, 95% CI=1.01–2.13, p=0.04), but not rs2073617 polymorphism. The G-C haplotype frequency of rs2073618-rs2073617 in OPG was significantly correlated to the increased susceptibility of peri-implantitis (OR=2.27, 95% CI=1.20–4.30). Conclusions OPG rs2073618 polymorphism may be related to the risk of peri-implantitis, but not rs2073617. Moreover, haplotype is also a non-ignorable risk factor. PMID:27828936

  14. Genetic Analysis of IL-17 Gene Polymorphisms in Gout in a Male Chinese Han Population

    PubMed Central

    Li, Hua; Guo, Mingzhen; Liu, Shiguo; Li, Changgui

    2016-01-01

    Interleukin (IL)-17 is a proinflammatory cytokine mainly secreted by activated T helper 17 cells and involved in inflammatory immune responses. This study aimed to investigate the association between IL-17 variants as well as serum IL-17 levels with gout in male Chinese Han individuals. A total of 1,101 male gout patients and 1,239 ethic-matched controls were enrolled. Genetic distributions of three variants (rs2275913 in IL-17A, rs763780 in IL-17F, and rs4819554 in IL-17RA) were detected by real-time polymerase chain reaction using the Taqman probe method. The plasma concentrations of IL-17A and IL-17F were measured in 228 gout patients and 198 controls that came from above samples by an enzyme-linked immunosorbent assay. No significant differences were observed in the genetic distribution of these polymorphisms between cases and controls (rs2275913: χ2 = 0.15, p = 0.928 by genotype, χ2 = 0.14, p = 0.711 by allele; rs763780: χ2 = 2.24, p = 0.326 by genotype, χ2 = 0.26, p = 0.609 by allele; rs4819554: χ2 = 1.79, p = 0.409 by genotype, χ2 = 1.46, p = 0.227 by allele). Levels of serum IL-17A and IL-17F were significantly decreased in gout patients (both p<0.001). However, no difference was observed in acute gout patients between different genotypic carriers of rs2275913 and rs763780 regarding serum IL-17A and IL-17F levels (p>0.05). Although the genetic variants in IL-17 we studied in this research do not appear to be involved in the development of gout in male Chinese Han individuals, the IL-17 cytokine family may participate in gouty inflammation in an undefined way, which requires further validation. PMID:26890073

  15. Positive association between PPARD rs2016520 polymorphism and coronary heart disease in a Han Chinese population.

    PubMed

    Ye, H D; Li, Y R; Hong, Q X; Zhou, A N; Zhao, Q L; Xu, L M; Xu, M Q; Xu, X T; Tang, L L; Dai, D J; Jiang, D J; Huang, Y; Wang, D W; Duan, S W

    2015-06-11

    PPARD encodes peroxisome proliferator-activated re-ceptor delta, which has been shown to play an important role in control-ling lipid metabolism and atherosclerosis. In this case-control study, we explored the relationship between PPARD rs2016520 polymorphism and coronary heart disease (CHD) in a Han Chinese population. A to-tal of 657 CHD cases and 640 controls were included in the associa-tion study. rs2016520 polymorphism genotyping was performed using the melting temperature-shift polymerase chain reaction method. The PPARD rs2016520-G allele reduced CHD risk by 17.9% (χ(2) = 5.061, P = 0.025, OR = 0.821, 95%CI = 0.692-0.975). Furthermore, a signifi-cant difference in CHD risk was observed for the PPARD rs2016520 polymorphism in the dominant model (AG + GG vs AA: χ(2) = 4.751, degrees of freedom (df) = 1, P = 0.029, OR = 0.784, 95%CI = 0.631- 0.976). Analysis by age suggested that the G-allele decreased CHD risk by 14.8% in ages greater than 65 years (χ(2) = 4.446, P = 0.035, OR = 0.852, 95%CI = 0.684-1.060). In contrast, meta-analysis of PPARD rs2016520 among 3732 cases and 5042 controls revealed no associa-tion between PPARD rs2016520 and CHD (P = 0.19). We found that the PPARD rs2016520-GG genotype decreased CHD risk in a Han Chinese population. Moreover, we found an association between serum high-density lipoprotein cholesterol level and PPARD rs2016520 in senior individuals aged ≥ 65 years. The meta-analysis revealed no association between PPARD rs2016520 and CHD, suggesting ethnic differences in the association between the PPARD locus and CHD.

  16. Association analysis of ANK3 gene variants with schizophrenia in a northern Chinese Han population

    PubMed Central

    Guo, Xiaojuan; Zhang, Yani; Du, Jieli; Yang, Hua; Ma, Yini; Li, Jingjie; Yan, Mengdan; Jin, Tianbo; Liu, Xianyang

    2016-01-01

    Schizophrenia is a chronic, severely debilitating mental disorder. Many studies have suggested that genetic factors play an important role in the onset and development of schizophrenia. In our study, we conducted a case-control study in a northern Chinese Han population of 499 schizophrenia patients and 500 controls to investigate the effect of variant genotypes of 13 SNPs in ANK3 on schizophrenia risk. Odds ratios (OR) and 95% confidence intervals (CI) were estimated using the chi-squared test, genetic model analysis, and haplotype analysis. Four ANK3 SNPs were associated with schizophrenia risk. The minor allele of rs958852 in ANK3 was associated with a 0.75-fold reduction in schizophrenia risk in an allelic model. In the genetic model, rs958852 was associated with a reduced schizophrenia risk, and rs10994336, rs10994338 and rs4948418 were associated with an increased schizophrenia risk (rs10994336, OR = 2.00, 95%CI: 1.01–3.94, p = 0.047; rs10994338, OR = 1.99, 95%CI: 1.01–3.93, p = 0.047; rs4948418, OR = 2.00, 95%CI: 1.01–3.94, p = 0.047). In addition, haplotype “TTC” of ANK3 was associated with a 0.73-fold reduced schizophrenia risk (95%CI: 0.54–0.99; p = 0.044). To our knowledge, this is the first to report of an association between ANK3 rs10994336, rs10994338, rs4948418 and rs958852 and schizophrenia risk in a northern Chinese Han population. PMID:27811378

  17. Incidence and Simple Prediction Model of Hyperuricemia for Urban Han Chinese Adults: A Prospective Cohort Study

    PubMed Central

    Cao, Jin; Wang, Chunxia; Zhang, Guang; Ji, Xiang; Liu, Yanxun; Sun, Xiubin; Yuan, Zhongshang; Jiang, Zheng; Xue, Fuzhong

    2017-01-01

    Background: Hyperuricemia (HUA) contributes to gout and many other diseases. Many hyperuricemia-related risk factors have been discovered, which provided the possibility for building the hyperuricemia prediction model. In this study we aimed to explore the incidence of hyperuricemia and develop hyperuricemia prediction models based on the routine biomarkers for both males and females in urban Han Chinese adults. Methods: A cohort of 58,542 members of the urban population (34,980 males and 23,562 females) aged 20–80 years old, free of hyperuricemia at baseline examination, was followed up for a median 2.5 years. The Cox proportional hazards regression model was used to develop gender-specific prediction models. Harrell’s C-statistics was used to evaluate the discrimination ability of the models, and the 10-fold cross-validation was used to validate the models. Results: In 7139 subjects (5585 males and 1554 females), hyperuricemia occurred during a median of 2.5 years of follow-up, leading to a total incidence density of 49.63/1000 person years (64.62/1000 person years for males and 27.12/1000 person years for females). The predictors of hyperuricemia were age, body mass index (BMI) systolic blood pressure, serum uric acid for males, and BMI, systolic blood pressure, serum uric acid, triglycerides for females. The models’ C statistics were 0.783 (95% confidence interval (CI), 0.779–0.786) for males and 0.784 (95% CI, 0.778–0.789) for females. After 10-fold cross-validation, the C statistics were still steady, with 0.782 for males and 0.783 for females. Conclusions: In this study, gender-specific prediction models for hyperuricemia for urban Han Chinese adults were developed and performed well. PMID:28085072

  18. Genetic Analysis of IL-17 Gene Polymorphisms in Gout in a Male Chinese Han Population.

    PubMed

    Zhou, Zheng; Li, Xinde; Li, Hua; Guo, Mingzhen; Liu, Shiguo; Li, Changgui

    2016-01-01

    Interleukin (IL)-17 is a proinflammatory cytokine mainly secreted by activated T helper 17 cells and involved in inflammatory immune responses. This study aimed to investigate the association between IL-17 variants as well as serum IL-17 levels with gout in male Chinese Han individuals. A total of 1,101 male gout patients and 1,239 ethic-matched controls were enrolled. Genetic distributions of three variants (rs2275913 in IL-17A, rs763780 in IL-17F, and rs4819554 in IL-17RA) were detected by real-time polymerase chain reaction using the Taqman probe method. The plasma concentrations of IL-17A and IL-17F were measured in 228 gout patients and 198 controls that came from above samples by an enzyme-linked immunosorbent assay. No significant differences were observed in the genetic distribution of these polymorphisms between cases and controls (rs2275913: χ2 = 0.15, p = 0.928 by genotype, χ2 = 0.14, p = 0.711 by allele; rs763780: χ2 = 2.24, p = 0.326 by genotype, χ2 = 0.26, p = 0.609 by allele; rs4819554: χ2 = 1.79, p = 0.409 by genotype, χ2 = 1.46, p = 0.227 by allele). Levels of serum IL-17A and IL-17F were significantly decreased in gout patients (both p<0.001). However, no difference was observed in acute gout patients between different genotypic carriers of rs2275913 and rs763780 regarding serum IL-17A and IL-17F levels (p>0.05). Although the genetic variants in IL-17 we studied in this research do not appear to be involved in the development of gout in male Chinese Han individuals, the IL-17 cytokine family may participate in gouty inflammation in an undefined way, which requires further validation.

  19. A COMPARISON OF MELANCHOLIC AND NONMELANCHOLIC RECURRENT MAJOR DEPRESSION IN HAN CHINESE WOMEN

    PubMed Central

    Sun, Ning; Li, Yihan; Cai, Yiyun; Chen, Jing; Shen, Yuan; Sun, Jing; Zhang, Zheng; Zhang, Jiulong; Wang, Lina; Guo, Liyang; Yang, Lei; Qiang, Li; Yang, Yanchun; Wang, Gang; Du, Bo; Xia, Jing; Rong, Han; Gan, Zhaoyu; Hu, Bin; Pan, Jiyang; Li, Chang; Sun, Shufan; Han, Wei; Xiao, Xue; Dai, Lei; Jin, Guixing; Zhang, Yutang; Sun, Lixin; Chen, Yunchun; Zhao, Haiying; Dang, Yamei; Shi, Shenxun; Kendler, Kenneth S; Flint, Jonathan; Zhang, Kerang

    2012-01-01

    Background Although the diagnosis of melancholia has had a long history, the validity of the current DSM-IV definition remains contentious. We report here the first detailed comparison of melancholic and nonmelancholic major depression (MD) in a Chinese population examining in particular whether these two forms of MD differ quantitatively or qualitatively. Methods DSM-IV criteria for melancholia were applied to 1,970 Han Chinese women with recurrent MD recruited from 53 provincial mental health centers and psychiatric departments of general medical hospitals in 41 cities. Statistical analyses, utilizing Student's t-tests and Pearson's χ2, were calculated using SPSS 13.0. Results Melancholic patients with MD were distinguished from nonmelancholic by being older, having a later age at onset, more episodes of illness and meeting more A criteria. They also had higher levels of neuroticism and rates of lifetime generalized anxiety disorder, panic disorder, and social and agoraphobia. They had significantly lower rates of childhood sexual abuse but did not differ on other stressful life events or rates of MD in their families. Discussion Consistent with most prior findings in European and US populations, we find that melancholia is a more clinically severe syndrome than nonmelancholic depression with higher rates of comorbidity. The evidence that it is a more “biological” or qualitatively distinct syndrome, however, is mixed. PMID:22065498

  20. Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles

    PubMed Central

    Fuh, Jong-Ling; Chern, Chang-Ming; Lee, Wei-Ju; Guo, Yuh-Cherng; Wang, Shuu-Jiun; Lee, I-Hui; Liu, Yo-Tsen; Wang, Yen-Feng; Chang, Feng-Chi; Chang, Ming-Hung; Soong, Bing-Wen; Lee, Yi-Chung

    2015-01-01

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is originally featured with a strong clustering of mutations in NOTCH3 exons 3–6 and leukoencephalopathy with frequent anterior temporal pole involvement. The present study aims at characterizing the genotypic and phenotypic profiles of CADASIL in Taiwan. One hundred and twelve patients with CADASIL from 95 families of Chinese descents in Taiwan were identified by Sanger sequencing of exons 2 to 24 of NOTCH3. Twenty different mutations in NOTCH3 were uncovered, including 3 novel ones, and R544C in exon 11 was the most common mutation, accounting for 70.5% of the pedigrees. Haplotype analyses were conducted in 14 families harboring NOTCH3 R544C mutation and demonstrated a common haplotype linked to NOTCH3 R544C at loci D19S929 and D19S411. Comparing with CADASIL in most Caucasian populations, CADASIL in Taiwan has several distinct features, including less frequent anterior temporal involvement, older age at symptom onset, higher incidence of intracerebral hemorrhage, and rarer occurrence of migraine. Subgroup analyses revealed that the R544C mutation is associated with lower frequency of anterior temporal involvement, later age at onset and higher frequency of cognitive dysfunction. In conclusion, the present study broadens the spectrum of NOTCH3 mutations and provides additional insights for the clinical and molecular characteristics of CADASIL patients of Han-Chinese descents. PMID:26308724

  1. Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.

    PubMed

    Liao, Yi-Chu; Hsiao, Cheng-Tsung; Fuh, Jong-Ling; Chern, Chang-Ming; Lee, Wei-Ju; Guo, Yuh-Cherng; Wang, Shuu-Jiun; Lee, I-Hui; Liu, Yo-Tsen; Wang, Yen-Feng; Chang, Feng-Chi; Chang, Ming-Hung; Soong, Bing-Wen; Lee, Yi-Chung

    2015-01-01

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is originally featured with a strong clustering of mutations in NOTCH3 exons 3-6 and leukoencephalopathy with frequent anterior temporal pole involvement. The present study aims at characterizing the genotypic and phenotypic profiles of CADASIL in Taiwan. One hundred and twelve patients with CADASIL from 95 families of Chinese descents in Taiwan were identified by Sanger sequencing of exons 2 to 24 of NOTCH3. Twenty different mutations in NOTCH3 were uncovered, including 3 novel ones, and R544C in exon 11 was the most common mutation, accounting for 70.5% of the pedigrees. Haplotype analyses were conducted in 14 families harboring NOTCH3 R544C mutation and demonstrated a common haplotype linked to NOTCH3 R544C at loci D19S929 and D19S411. Comparing with CADASIL in most Caucasian populations, CADASIL in Taiwan has several distinct features, including less frequent anterior temporal involvement, older age at symptom onset, higher incidence of intracerebral hemorrhage, and rarer occurrence of migraine. Subgroup analyses revealed that the R544C mutation is associated with lower frequency of anterior temporal involvement, later age at onset and higher frequency of cognitive dysfunction. In conclusion, the present study broadens the spectrum of NOTCH3 mutations and provides additional insights for the clinical and molecular characteristics of CADASIL patients of Han-Chinese descents.

  2. Effects of quercetin on pharmacokinetics of cefprozil in Chinese-Han male volunteers.

    PubMed

    Jia, Fei-Fei; Tan, Zhi-Rong; McLeod, Howard L; Chen, Yao; Ou-Yang, Dong-Sheng; Zhou, Hong-Hao

    2016-10-01

    1. The primary objective of this study was to evaluate the effects of quercetin on the pharmacokinetics of cefprozil. The secondary objective was to evaluate the safety of the combined use of cefprozil and quercetin. 2. An open-label, two-period, crossover phase I trial among 24 Han Chinese male subjects was conducted. Participants were given 500 mg of quercetin orally once daily for 15 d followed by single dose of cefprozil (500 mg) on day 15. Serum concentrations of cefprozil were then measured in all participants on day 15. A 15-d washout period was then assigned after which a 500 mg dose of cefprozil was administered and measured in the serum on day 36. 3. All subjects completed the trial, and no serious adverse events were reported. We measured mean serum concentrations of cefprozil in the presence and absence of quercetin in all participants. The maximum serum concentration of cefprozil in the presence of quercetin was 8.18 ug/ml (95% CI: 7.55-8.81) versus a maximum cefprozil concentration of 8.35 ug/ml (95% CI: 7.51-9.19) in the absence of quercetin. We conclude that the concurrent use of quercetin has no substantial effect on serum concentrations of orally administered cefprozil. 4. Co-administration of quercetin showed no statistically significant effects on the pharmacokinetics of cefprozil in healthy Chinese subjects.

  3. Oolong tea drinking could help prevent bone loss in postmenopausal Han Chinese women.

    PubMed

    Wang, Guibin; Liu, Guibin; Liu, Liu Hongmei; Zhao, Huanli; Zhang, Fengfang; Li, Shufa; Chen, Yang; Zhang, Zhenchun

    2014-11-01

    The aim of this study was to analyze the relationship between oolong tea drinking and bone mineral density in postmenopausal Han Chinese women, while living and diet habits, fertility, disease elements and other baseline conditions were controlled. One group included 124 cases who routinely drank oolong tea, and the other included 556 who did not drink tea. Data were collected on participant age, lifestyle habits, fertility condition, disease elements, and lumbar, and hip bone densities. It was found that the bone densities of the greater trochanteric bone in tea drinkers were higher (0.793 ± 0.119 kg/cm(2)) than that in non-tea drinkers (0.759 ± 0.116 kg/cm(2), F = 6.248, p = 0.013). Similarly, the bone density of Ward's triangular bone in tea drinkers was higher (0.668 ± 0.133 kg/cm(2)) than that in non-tea drinkers (0.637 ± 0.135 kg/cm(2), F = 6.152, p = 0.013). Oolong tea drinking could help prevent bone loss in postmenopausal Chinese women.

  4. Predictive markers for carbamazepine and lamotrigine-induced maculopapular exanthema in Han Chinese.

    PubMed

    Li, Li-Juan; Hu, Fa-Yun; Wu, Xin-Tong; An, Dong-Mei; Yan, Bo; Zhou, Dong

    2013-09-01

    The aims of this study were to clarify the possible associations of carbamazepine (CBZ)- and lamotrigine (LTG)-induced maculopapular exanthema (MPE) with the human leukocyte antigen (HLA) alleles in Chinese patients. A total of 249 subjects, including 40 patients with CBZ-induced MPE (CBZ-MPE), 43 patients with LTG-induced MPE (LTG-MPE), 52 CBZ-tolerant controls, 42 LTG-tolerant controls and 72 healthy controls, were included in this study. High-resolution HLA genotyping was performed by a specific kit. Differences in the allele frequencies among the groups were assessed. The allele frequencies of HLA-A*0201 and HLA-DRB1*1405 were significantly higher (P=0.033 and P=0.003, respectively), but those of HLA-B*5801 and HLA-DRB1*0301 (P=0.037 and P=0.024, respectively) were lower in the CBZ-MPE patients when compared with the CBZ-tolerant group. We also observed two significantly increased alleles of HLA-A*3001 and HLA-B*1302 (P=0.013 and P=0.013, respectively) and a decreased allele of HLA-A*3303 (P=0.048) in the LTG-MPE patients when compared with those in the LTG-tolerant group. Our results support the hypothesis that these HLA alleles contribute to the genetic susceptibility to CBZ/LTG-MPE and may be valuable as potential biomarkers for CBZ/LTG-MPE in Han Chinese.

  5. The common single-nucleotide polymorphism rs2681472 is associated with early-onset preeclampsia in Northern Han Chinese women.

    PubMed

    Wan, Ji-Peng; Wang, Hong; Li, Chang-Zhong; Zhao, Han; You, Li; Shi, Dong-Hong; Sun, Xiu-Hua; Lv, Hong; Wang, Fei; Wen, Ze-Qing; Wang, Xie-Tong; Chen, Zi-Jiang

    2014-11-01

    Preeclampsia, characterized by hypertension and proteinuria, remains a leading cause of maternal morbidity and mortality. Recently, a genome-wide association study (GWAS) identified the single-nucleotide polymorphism, rs2681472, as a new hypertension susceptibility genetic variant. The purpose of this study was to evaluate the association between preeclampsia and rs268172 in a Northern Han Chinese population. We genotyped 1218 unrelated Northern Han Chinese women, including 515 patients with preeclampsia and 703 healthy controls. No significant differences were detected in the allele frequencies between patients and controls (P = .23). When patients were divided into early-onset and late-onset preeclampsia according to gestational age of disease onset, the allele frequencies significantly differed between controls and patients with early-onset preeclampsia (P = .02). Genotype frequencies also were significantly different between controls and patients early-onset preeclampsia when data were analyzed under additive (P = .03) and dominant (P = .009) models. We replicated this association in an independent Northern Han Chinese population and observed a significant difference in the allele frequencies between patients with early-onset preeclampsia and controls (P = .011). We report that rs2681472 is associated with early-onset preeclampsia in Northern Han Chinese women.

  6. Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis.

    PubMed

    Deng, Min; Wei, Ling; Zuo, Xianbo; Tian, Yanghua; Xie, Fei; Hu, Panpan; Zhu, Chunyan; Yu, Fengqiong; Meng, Yu; Wang, Honghao; Zhang, Fangfang; Ma, Huijuan; Ye, Rong; Cheng, Huaidong; Du, Jing; Dong, Wenwen; Zhou, Shanshan; Wang, Changqing; Wang, Yu; Wang, Jingye; Chen, Xianwen; Sun, Zhongwu; Zhou, Nong; Jiang, Yubao; Liu, Xiuxiu; Li, Xiaogang; Zhang, Nan; Liu, Na; Guan, Yingjun; Han, Yongsheng; Han, Yongzhu; Lv, Xinyi; Fu, Yu; Yu, Hui; Xi, Chunhua; Xie, Dandan; Zhao, Qiyuan; Xie, Peng; Wang, Xin; Zhang, Zhijun; Shen, Lu; Cui, Yong; Yin, Xianyong; Cheng, Hui; Liang, Bo; Zheng, Xiaodong; Lee, Tatia M C; Chen, Gang; Zhou, Fusheng; Veldink, Jan H; Robberecht, Wim; Landers, John E; Andersen, Peter M; Al-Chalabi, Ammar; Shaw, Chris; Liu, Chunfeng; Tang, Beisha; Xiao, Shangxi; Robertson, Janice; Zhang, Fengyu; van den Berg, Leonard H; Sun, Liangdan; Liu, Jianjun; Yang, Sen; Ju, Xiaodong; Wang, Kai; Zhang, Xuejun

    2013-06-01

    To identify susceptibility genes for amyotrophic lateral sclerosis (ALS), we conducted a genome-wide association study (GWAS) in 506 individuals with sporadic ALS and 1,859 controls of Han Chinese ancestry. Ninety top SNPs suggested by the current GWAS and 6 SNPs identified by previous GWAS were analyzed in an independent cohort of 706 individuals with ALS and 1,777 controls of Han Chinese ancestry. We discovered two new susceptibility loci for ALS at 1q32 (CAMK1G, rs6703183, Pcombined = 2.92 × 10(-8), odds ratio (OR) = 1.31) and 22p11 (CABIN1 and SUSD2, rs8141797, Pcombined = 2.35 × 10(-9), OR = 1.52). These two loci explain 12.48% of the overall variance in disease risk in the Han Chinese population. We found no association evidence for the previously reported loci in the Han Chinese population, suggesting genetic heterogeneity of disease susceptibility for ALS between ancestry groups. Our study identifies two new susceptibility loci and suggests new pathogenic mechanisms of ALS.

  7. Femoral Version, Neck-Shaft Angle, and Acetabular Anteversion in Chinese Han Population

    PubMed Central

    Jiang, Nan; Peng, Lin; Al-Qwbani, Mohammed; Xie, Guo-Ping; Yang, Qin-Meng; Chai, Yu; Zhang, Qing; Yu, Bin

    2015-01-01

    Abstract Anatomic data regarding femoral version, neck-shaft angle, and acetabular anteversion are still limited in Chinese Han adult population. The aim of this study was to investigate the effects of age, sex, and body laterality on the 3 important anatomic indicators in Chinese Han healthy adults. Measurements were performed independently by 3 experienced observers using the picture archiving and communication system (PACS) in healthy adults who had received imaging tests of the femur and acetabulum between January 2009 and October 2014. Relevant data were measured and analyzed. A total of 466 adults (353 males and 113 females) were included. The mean femoral version, neck-shaft angle, and acetabular anteversion for all were 10.62, 133.02, and18.79, respectively. Age-based analysis showed that adults younger than 60 years had a significantly higher neck-shaft angle (P < 0.001) but a significantly lower acetabular anteversion (P < 0.001) than those older than 60 years. Sex-based analysis revealed that females had significantly higher values of femoral version (P < 0.001) and acetabular anteversion (P < 0.001) than males. Laterality-based analysis found the left side had a significantly lower acetabular anteversion (P < 0.001) than the right side. Outcomes of multiple linear regression analysis indicated that femoral version may be associated with sex (P < 0.001) but not age (P = 0.076) or laterality (P = 0.430), neck-shaft angle may be associated with age (P < 0.001) but not sex (P = 0.378) or laterality (P = 0.233), and acetabular anteversion may be associated with age (P < 0.001) and sex (P < 0.001) but not laterality (P = 0.060). In this representative Chinese cohort, neck-shaft angle may decrease, whereas acetabular anteversion may increase with age, females may have higher values of femoral version and acetabular anteversion than males, and the right body side may have a higher value of acetabular

  8. Risk factors related to persistent airflow obstruction in severe asthma in Chinese Han population

    PubMed Central

    Zhang, Lanlan; Yang, Wenjuan; Zhou, Qiao; Wang, Gang; Liu, Chuntao

    2014-01-01

    Objective: To explore the significance of assessing persistent airway obstruction (PAO) in asthma patients by airway wall remodeling with bronchoscopy, high-resolution computed tomography (HRCT), and biological markers in the induced sputum and serum, exhaled nitric oxide (FENO), and lung function. Methods: The study was conducted in 119 patients with PAO and 125 patients with reversible airway obstruction (RAO). Endobronchial biopsy specimens were analyzed for airway smooth muscle (ASM) area, and reticular basement membrane (RBM) thickness. Airway thickness was also measured by HRCT scanning. Levels of matrix metalloproteases-9 (MMP-9), metalloproteinase 33 (ADAM33), and vascular endothelial growth factor (VEGF) were measured in the induced sputum and serum by enzyme linked immunosorbent assay. Result: PAO was associated with longer disease duration, absence of atopy and rhinitis, and larger ASM area (SMA%) (15.83%±2.32% [n=9] vs. 8.0%±1.68% [n=7], P=0.02), thicker RBM (16.27±2.32 μm [n=9] vs. 8.71±2.41 μm [n=7], P=0.042); No differences in any of the biomarker molecules measured in airway thickness in HRCT, sputum and blood individually between groups were found. Conclusion: Severe asthma patients with longer disease duration and the absence of atopy and rhinitis are more likely to develop PAO in Chines Han population. PAO patients have increased ASM area and RBM thickness appear to be valuable in the evaluation of airway remodeling in asthma patients in Chinese Han population. PMID:25664049

  9. Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan.

    PubMed

    Shen, Che-Piao; Lin, Wei-Yong; Lin, Ting-Fang; Wang, Wen-Fu; Tsai, Chon-Haw; Hsu, Ban-Dar; Huang, Chih-Yang; Liu, Hsin-Ping; Tsai, Fuu-Jen

    2014-04-30

    Development of Alzheimer's disease (AD) is characterized by progressive neuronal death and a decline in learning and memory. Mutations in human senataxin (SETX), an ortholog yeast protein of Sen1, have been identified to cause the syndrome of ataxia with oculomotor apraxia type 2 (AOA2) and juvenile amyotrophic lateral sclerosis (ALS4), two types of progressive motor neuron degeneration. However, the relationship between the SETX gene, which is involved in the regulation of RNA processing and DNA repair, and the predisposition for AD remains unclear. In this research, potential association of polymorphisms in the SETX gene with AD was investigated. A case-control study of a Chinese Han population in Taiwan was performed. Three single-nucleotide polymorphisms (SNPs), 3455T>G (rs3739922), 3576T>G (rs1185193) and 7759A>G (rs1056899) were studied. The experimental data showed that upon genotyping of the exonic polymorphism in the SETX gene, the T allele appeared at a lower rate than the G allele at position 3455 in AD patients compared with normal groups (P < 0.05, odds ratio (OR), 0.59, 95% confidence interval (CI), 0.40-0.89). Subjects with the GA genotype at position 7759 have higher incidences of AD development than with the AA genotype (P < 0.05, OR, 6.45, 95% CI, 1.24 to 33.70). Our results also showed that with six haplotypes (Hts) observed from the analyzed polymorphisms, distributions of the Ht4-GAA and Ht5-GCA haplotypes appeared to be significant 'risk' haplotypes between AD patients and controls (both P < 0.05, OR, 8.44, 95% CI, 1.07-66.60). These observations suggest that genetic variations in the SETX gene may contribute to AD pathogenesis in the Taiwanese Han population.

  10. New insights from GWAS for the cleft palate among han Chinese population

    PubMed Central

    Duan, Shi-Jun; Huang, Ning; Zhang, Bi-He; Shi, Jia-Yu; He, Sha; Ma, Jian; Yu, Qiong-Qiong; Shi, Bing

    2017-01-01

    Background Genome wide association studies (GWAS) already have identified tens of susceptible loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). However, whether these loci associated with nonsyndromic cleft palate only (NSCPO) remains unknown. Material and Methods In this study, we replicated 38 SNPs (Single nucleotide polymorphisms) which has the most significant p values in published GWASs, genotyping by using SNPscan among 144 NSCPO trios from Western Han Chinese. We performed the transmission disequilibrium test (TDT) on individual SNPs and gene-gene (GxG) interaction analyses on the family data; Parent-of-Origin effects were assessed by separately considering transmissions from heterozygous fathers versus heterozygous mothers to affected offspring. Results Allelic TDT results showed that T allele at rs742071 (PAX7) (p=0.025, ORtransmission=3.00, 95%CI: 1.09-8.25) and G allele at rs2485893 (10kb 3’ of SYT14) were associated with NSCPO (p=0.0036, ORtransmission= 0.60, 95%CI: 0.42-0.85). Genotypic TDT based on 3 pseudo controls further confirmed that rs742071 (p-value=0.03, ORtransmission=3.00, 95%CI: 1.09-8.25) and rs2485893 were associated with NSCPO under additive model (p-value= 0.02, ORtransmission= 0.66, 95%CI: 0.47-0.92). Genotypic TDT for epistatic interactions showed that rs4844913 (37kb 3’ of DIEXF) interacted with rs11119388 (SYT14) (p-value=1.80E-08) and rs6072081 (53kb 3’ of MAFB) interacted with rs6102085 (33kb 3’ of MAFB) (p-value=3.60E-04) for NSCPO, suggesting they may act in the same pathway in the etiology of NSCPO. Conclusions In this study, we found that rs742071 and rs2485893 were associated NSCPO from Han Chinese population; also, interactions of rs4844913:rs11119388 and rs6072081:rs6102085 for NSCPO were identified, gene-gene interactions have been proposed as a potential source of the remaining heritability, these findings provided new insights of the previous GWAS. Key words:GWAS, NSCPO, TDT, parent

  11. TRPM8 genetic variations associated with COPD risk in the Chinese Han population

    PubMed Central

    Xiong, Mingmei; Wang, Jian; Guo, Meihua; Zhou, Qipeng; Lu, Wenju

    2016-01-01

    TRPM8 plays a key role in COPD. The development of pulmonary hypertension (PH) in COPD adversely affects survival and exercise capacity. Thus, the aim of this study was to evaluate the possible association between single nucleotide polymorphisms (SNPs) in TRPM8 and COPD or PH in COPD among the Chinese Han population. A total of 513 COPD patients and 506 controls were enrolled in the study. Six tag SNPs (tSNPs) were genotyped. The relationship between COPD or PH in COPD and the six tSNPs was evaluated using the χ2 test and genetic model analysis. In the rs9789398 polymorphism, the T/C genotype was associated with an increased risk for COPD (P=0.005). Under the assumption of models of inheritance, there was an association between the rs9789398 polymorphism and COPD. In the rs9789675 polymorphism, the G/A genotype was associated with an increased risk for COPD (P=0.021). Furthermore, by the χ2 test, we found that the minor allele “A” of rs9789675 (odds ratio [OR] =0.63, 95% confidence interval [CI], 0.42–0.97, P=0.034) and the minor allele “C” of rs9789398 (OR =1.59, 95% CI, 1.03–2.44, P=0.034) were associated with a decreased risk of PH in COPD in allele models. In genetic models, the genotypes “GA” and “AA” of rs9789675 were associated with a decreased risk of PH in COPD. The genotypes “TC” and “CC” of rs9789398 were associated with a decreased risk of PH in COPD. Moreover, “CG” of rs1004478 was significantly associated with a decreased risk of PH in COPD. There was a significant association between the five SNPs (rs2362290, rs9789675, rs9789398, rs1003540, and rs104478) in the TRPM8 gene and the risk of PH in COPD. Our findings indicated that rs9789398 in the TRPM8 gene was significantly associated with the risk of COPD in the Chinese Han population. Moreover, rs9789675, rs9789398, and rs1004478 were significantly associated with the risk of PH in COPD. This study provides a novel insight into COPD and PH in the development of COPD

  12. Vitamin D receptor gene polymorphism and its association with Parkinson's disease in Chinese Han population.

    PubMed

    Han, Xun; Xue, Li; Li, Yongsheng; Chen, Biao; Xie, Anmu

    2012-09-06

    Vitamin D plays an important role in neurodegenerative disorders as a crucial neuro-immunomodulator, and accumulating data have provided evidence for that vitamin D receptor (VDR) gene is a candidate gene for susceptibility to Parkinson's disease (PD). In this study, we performed a case-control study to demonstrate whether the risk for the development of onset of sporadic PD might be influenced by VDR gene polymorphisms in a Chinese cohort. Two hundred and sixty PD patients and 282 matched-healthy controls were genotyped for two representative single nucleotide polymorphisms (SNPs) in VDR gene (FokI C/T and BsmI G/A) by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis in. Results from our study revealed that FokI C allele carriers were likely to associate with an increased risk of PD (P=0.004) as well as early-onset PD (EOPD) (P=0.010). Moreover, the frequency of FokI C allele was significantly increased in PD group and late-onset PD (LOPD) group relative to the control groups respectively (P=0.023 and P=0.033, respectively). For BsmI polymorphisms, no significant difference in genotype or allele distribution was found between PD patients and the controls, as well as gender- and age-related differences between PD patients and the controls subgroup. This study demonstrated a possible association between the VDR FokI T/C polymorphism and PD, indicating that VDR polymorphisms may well change genetic susceptibility to sporadic PD in a Han Chinese population.

  13. Association analysis of the RGS4 gene in Han Chinese and Scottish populations with schizophrenia.

    PubMed

    Zhang, F; St Clair, D; Liu, X; Sun, X; Sham, P C; Crombie, C; Ma, X; Wang, Q; Meng, H; Deng, W; Yates, P; Hu, X; Walker, N; Murray, R M; Collier, D A; Li, T

    2005-10-01

    We investigated the RGS4 as a susceptibility gene for schizophrenia in Chinese Han (184 trios and 138 sibling pairs, a total of 322 families) and Scottish (580 cases and 620 controls) populations using both a family trio and case-control design. Both the samples had statistical power greater than 70% to detect a heterozygote genotype relative risk of >1.2 for frequent RGS4-risk alleles. We genotyped four single nucleotide polymorphisms (SNPs) which have previously been associated with schizophrenia as either individually or part of haplotypes. Allele frequencies and linkage disequilibrium between the SNPs was similar in the two populations. In the Chinese sample, no individual SNPs or any of their haplotypes were associated with schizophrenia. In the Scottish population, one SNP (SNP7) was significantly over-represented in the cases compared with the controls (0.44 vs. 0.38; A allele; chi(2) 7.08, P = 0.011 after correction for correlation between markers by permutation testing). One two-marker haplotype, composed of alleles T and A of SNP4 and SNP7, respectively, showed individual significance after correction by permutation testing (chi(2) 6.8; P = 0.04). None of the full four-marker haplotypes showed association, including the G-G-G-G haplotype previously associated with schizophrenia in more than one sample and the A-T-A-A haplotype. Thus, our data do not directly replicate previous associations of RGS4, but association with SNP 7 in the Scottish population provides some support for a role in schizophrenia susceptibility. We cannot conclusively exclude RGS4, as associated haplotypes are likely to be surrogates for unknown causative alleles, whose relationship with overlying haplotypes may differ between the population groups. Differences in the association seen across the two populations could result from methodological factors such as diagnostic differences but most likely result from ethnic differences in haplotype structures within RGS4.

  14. Genetic distribution and association analysis of DRD2 gene polymorphisms with major depressive disorder in the Chinese Han population.

    PubMed

    He, Mei; Yan, Hong; Duan, Zhao-Xia; Qu, Wei; Gong, Hai-Yan; Fan, Zheng-Li; Kang, Jian-Yi; Li, Bing-Cang; Wang, Jian-Min

    2013-01-01

    Dopamine D2 receptor is involved in reward-mediating mesocorticolimbic pathways. It plays an important role in major depressive disorder (MDD). Three gene polymorphisms Taq1A, C957T and -141C ins/del, were identified in the DRD2 gene among the Western population. These variants in the DRD2 gene might be associated with the susceptibility of MDD patients through affecting the bioeffects of endogenous dopamine neurotransmission. However, little is known about their occurrence in Chinese population and their association with the susceptibility of patients with major depressive disorder. In this study, a total of 338 unrelated adult Chinese Han population, including 224 healthy volunteers and 114 patients with major depressive disorder, were recruited. DRD2 polymorphisms (Taq1A and -141C ins/del) were detected using restriction fragment length polymorphism (RFLP) analysis and the C957T were detected by sequencing directly. As a result, three polymorphisms were identified in Chinese Han population and all were common SNP. However, we could detect no evidence of genetic association between 3 markers in DRD2 and major depressive disorder in the Chinese Han population. To conclude, this result suggests that Taq1A, C957T and -141C ins/del of DRD2 gene may not be associated with major depressive disorder, also may be the sample sizes too small to allow a meaningful test.

  15. Serum trace element differences between Schizophrenia patients and controls in the Han Chinese population

    PubMed Central

    Cai, Lei; Chen, Tianlu; Yang, Jinglei; Zhou, Kejun; Yan, Xiaomei; Chen, Wenzhong; Sun, Liya; Li, Linlin; Qin, Shengying; Wang, Peng; Yang, Ping; Cui, Donghong; Burmeister, Margit; He, Lin; Jia, Wei; Wan, Chunling

    2015-01-01

    Little is known about the trace element profile differences between Schizophrenia patients and healthy controls; previous studies about the association of certain elements with Schizophrenia have obtained conflicting results. To identify these differences in the Han Chinese population, inductively coupled plasma-mass spectrometry was used to quantify the levels of 35 elements in the sera of 111 Schizophrenia patients and 110 healthy participants, which consisted of a training (61/61 for cases/controls included) and a test group including remaining participants. An orthogonal projection to latent structures model was constructed from the training group (R2Y = 0.465, Q2cum = 0.343) had a sensitivity of 76.0% and a specificity of 71.4% in the test group. Single element analysis indicated that the concentrations of cesium, zinc, and selenium were significantly reduced in patients with Schizophrenia in both the training and test groups. The meta-analysis including 522 cases and 360 controls supported that Zinc was significantly associated with Schizophrenia (standardized mean difference [SMD], −0.81; 95% confidence intervals [CI], −1.46 to −0.16, P = 0.01) in the random-effect model. Information theory analysis indicated that Zinc could play roles independently in Schizophrenia. These results suggest clear element profile differences between patients with Schizophrenia and healthy controls, and reduced Zn level is confirmed in the Schizophrenia patients. PMID:26456296

  16. TOX and ADIPOQ Gene Polymorphisms Are Associated with Antipsychotic-Induced Weight Gain in Han Chinese

    PubMed Central

    Li, Shen; Xu, Chengai; Tian, Yuan; Wang, Xueshi; Jiang, Rui; Zhang, Miaomiao; Wang, Lili; Yang, Guifu; Gao, Ying; Song, Chenyu; He, Yukun; Zhang, Ying; Li, Jie; Li, Wei-Dong

    2017-01-01

    To find the genetic markers related to the antipsychotic-induced weight gain (AIWG), we analyzed associations among candidate gene single-nucleotide polymorphisms (SNPs) and quantitative traits of weight changes and lipid profiles in a Chinese Han population. A total of 339 schizophrenic patients, including 86 first-episode patients (FEPs), meeting the entry criteria were collected. All patients received atypical antipsychotic drug monotherapy and hospitalization and were followed for 12 weeks. Forty-three SNPs in 23 candidate genes were calculated for quantitative genetic association with AIWG, performed by PLINK. The TOX gene SNP rs11777927 (P = 0.009) and the ADIPOQ gene SNP rs182052 (P = 0.019) were associated with AIWG (in body mass index, BMI). In addition, the BDNF SNP rs6265 (P = 0.002), BDAF SNP rs11030104 SNP (P = 0.001), and ADIPOQ SNPs rs822396 (P = 0.003) were significantly associated with the change of waist-to-hip ratio (WHR) induced by atypical antipsychotics. These results were still significant after age and gender adjustments. These findings provide preliminary evidence supporting the role of TOX, ADIPOQ and BDNF in weight and WHR gain induced by atypical antipsychotics. PMID:28327672

  17. Serum trace element differences between Schizophrenia patients and controls in the Han Chinese population.

    PubMed

    Cai, Lei; Chen, Tianlu; Yang, Jinglei; Zhou, Kejun; Yan, Xiaomei; Chen, Wenzhong; Sun, Liya; Li, Linlin; Qin, Shengying; Wang, Peng; Yang, Ping; Cui, Donghong; Burmeister, Margit; He, Lin; Jia, Wei; Wan, Chunling

    2015-10-12

    Little is known about the trace element profile differences between Schizophrenia patients and healthy controls; previous studies about the association of certain elements with Schizophrenia have obtained conflicting results. To identify these differences in the Han Chinese population, inductively coupled plasma-mass spectrometry was used to quantify the levels of 35 elements in the sera of 111 Schizophrenia patients and 110 healthy participants, which consisted of a training (61/61 for cases/controls included) and a test group including remaining participants. An orthogonal projection to latent structures model was constructed from the training group (R(2)Y = 0.465, Q(2)cum = 0.343) had a sensitivity of 76.0% and a specificity of 71.4% in the test group. Single element analysis indicated that the concentrations of cesium, zinc, and selenium were significantly reduced in patients with Schizophrenia in both the training and test groups. The meta-analysis including 522 cases and 360 controls supported that Zinc was significantly associated with Schizophrenia (standardized mean difference [SMD], -0.81; 95% confidence intervals [CI], -1.46 to -0.16, P = 0.01) in the random-effect model. Information theory analysis indicated that Zinc could play roles independently in Schizophrenia. These results suggest clear element profile differences between patients with Schizophrenia and healthy controls, and reduced Zn level is confirmed in the Schizophrenia patients.

  18. Fyn polymorphisms are associated with distinct personality traits in healthy Chinese-Han subjects.

    PubMed

    Li, Jingying; Ma, Huan; Deng, Shumin; Wu, Lijuan; Huang, Yinglin; Zhu, Gang

    2011-05-01

    The Src family tyrosine kinase Fyn regulates a myriad of neurophysiological processes, including learning and memory. To date, the role of Fyn in the neurological mechanisms that determine personality traits has not been addressed. To this end, we determined the association between the rs706895C/T polymorphism of the Fyn gene (FYN) and personality traits measured by the Tridimensional Personality Questionnaire in 502 healthy Chinese-Han subjects. There were no significant differences in the total scores for novelty seeking (χ² = 5.12, P = 0.077), harm avoidance (HA; χ² = 2.63, P = 0.269), or reward dependence (RD; χ² = 3.94, P = 0.139) among the rs706895C/T genotypes. In sub-item analyses, however, both fear of uncertainty (HA2; χ² = 7.84, P = 0.020) and sentimentality (RD1; χ² = 8.27; P = 0.016) scores were significantly different among rs706895C/T genotypes. Our results suggest that FYN alleles can contribute to the variance in human personality traits.

  19. Affect recognition across manic and euthymic phases of bipolar disorder in Han-Chinese patients.

    PubMed

    Pan, Yi-Ju; Tseng, Huai-Hsuan; Liu, Shi-Kai

    2013-11-01

    Patients with bipolar disorder (BD) have affect recognition deficits. Whether affect recognition deficits constitute a state or trait marker of BD has great etiopathological significance. The current study aims to explore the interrelationships between affect recognition and basic neurocognitive functions for patients with BD across different mood states, using the Diagnostic Analysis of Non-Verbal Accuracy-2, Taiwanese version (DANVA-2-TW) as the index measure for affect recognition. To our knowledge, this is the first study examining affect recognition deficits of BPD across mood states in the Han Chinese population. Twenty-nine manic patients, 16 remitted patients with BD, and 40 control subjects are included in the study. Distinct association patterns between affect recognition and neurocognitive functions are demonstrated for patients with BD and control subjects, implicating alternations in emotion associated neurocognitive processing. Compared to control subjects, manic patients but not remitted subjects perform significantly worse in the recognition of negative emotions as a whole and specifically anger, after adjusting for differences in general intellectual ability and basic neurocognitive functions. Affect recognition deficit may be a relatively independent impairment in BD rather than consequences arising from deficits in other basic neurocognition. The impairments of manic patients in the recognition of negative emotions, specifically anger, may further our understanding of core clinical psychopathology of BD and have implications in treating bipolar patients across distinct mood phases.

  20. SMAD7 loci contribute to risk of hepatocellular carcinoma and clinicopathologic development among Chinese Han population

    PubMed Central

    Lu, Chenying; Song, Jingjing; Chen, Weiqian; Chen, Minjiang; Fan, Xiaoxi; Cheng, Xingyao; Lan, Xilin; Li, Jie

    2016-01-01

    Genome-wide association studies (GWAS) have identified three loci at 18q21 (rs4939827, rs7240004, and rs7229639), which maps to SMAD7 loci, were associated with risk of diseases of the digestive system. However, their associations with hepatocellular carcinoma (HCC) risk remain unknown. A case-control study was conducted to assess genetic associations with HCC risk and clinicopathologic development among Chinese Han population. Three SNPs were genotyped among 1,000 HCC cases and 1,000 controls using Sequenom Mass-ARRAY technology. We observed statistically significant associations for the three SMAD7 loci and HCC risk. Each copy of minor allele was associated with a 1.24–1.36 fold increased risk of HCC. We also found that significant differences were observed between rs4939827 and clinical TNM stage and vascular invasion, as well as rs7240004 and vascular invasion. We also established a genetic risk score (GRS) by summing the risk alleles. The GRS was significantly associated with increased risk of HCC and vascular invasion. Our data revealed the SMAD7 loci is associated with HCC susceptibility and its clinicopathologic development. PMID:26989026

  1. Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson’s disease

    PubMed Central

    Yuan, Lamei; Song, Zhi; Deng, Xiong; Zheng, Wen; Guo, Yi; Yang, Zhijian; Deng, Hao

    2016-01-01

    Parkinson’s disease (PD) is one of the most common neurodegenerative disorders. Accumulated evidence confirms that genetic factors play a considerable role in PD pathogenesis. To examine whether point variants or haplotypes are associated with PD development, genotyping of 35 variants in 22 PD-related genes was performed in a well-characterized cohort of 512 Han Chinese PD patients and 512 normal controls. Both Pearson’s χ2 test and haplotype analysis were used to evaluate whether variants or their haplotypes were associated with PD in this cohort. The only statistically significant differences in genotypic and allelic frequencies between the patients and the controls were in the DnaJ heat shock protein family (Hsp40) member C10 gene (DNAJC10) variant rs13414223 (P = 0.004 and 0.002, respectively; odds ratio = 0.652, 95% confidence interval: 0.496–0.857). No other variants or haplotypes exhibited any significant differences between these two groups (all corrected P > 0.05). Our findings indicate that the variant rs13414223 in the DNAJC10 gene, a paralog of PD-related genes DNAJC6 and DNAJC13, may play a protective role in PD. This suggests it may be a PD-associated gene. PMID:27653456

  2. Genetics pathway-based imaging approaches in Chinese Han population with Alzheimer's disease risk.

    PubMed

    Bai, Feng; Liao, Wei; Yue, Chunxian; Pu, Mengjia; Shi, Yongmei; Yu, Hui; Yuan, Yonggui; Geng, Leiyu; Zhang, Zhijun

    2016-01-01

    The tau hypothesis has been raised with regard to the pathophysiology of Alzheimer's disease (AD). Mild cognitive impairment (MCI) is associated with a high risk for developing AD. However, no study has directly examined the brain topological alterations based on combined effects of tau protein pathway genes in MCI population. Forty-three patients with MCI and 30 healthy controls underwent resting-state functional magnetic resonance imaging (fMRI) in Chinese Han, and a tau protein pathway-based imaging approaches (7 candidate genes: 17 SNPs) were used to investigate changes in the topological organisation of brain activation associated with MCI. Impaired regional activation is related to tau protein pathway genes (5/7 candidate genes) in patients with MCI and likely in topologically convergent and divergent functional alterations patterns associated with genes, and combined effects of tau protein pathway genes disrupt the topological architecture of cortico-cerebellar loops. The associations between the loops and behaviours further suggest that tau protein pathway genes do play a significant role in non-episodic memory impairment. Tau pathway-based imaging approaches might strengthen the credibility in imaging genetic associations and generate pathway frameworks that might provide powerful new insights into the neural mechanisms that underlie MCI.

  3. The Human MSI2 Gene is Associated with Schizophrenia in the Chinese Han Population.

    PubMed

    Luan, Zhilin; Lu, Tianlan; Ruan, Yanyan; Yue, Weihua; Zhang, Dai

    2016-06-01

    It has been suggested that altered neurogenesis may be involved in the etiology of schizophrenia, so genes impacting on neurogenesis could be potential candidates for schizophrenia. A member of the Musashi family, the human MSI2 gene plays a substantial role in stem-cell maintenance, asymmetric division, and differentiation during neurogenesis. Our previous genome-wide association study (GWAS) implied an association of MSI2 with schizophrenia in a Han Chinese population. To further explore this association, three single-nucleotide polymorphisms (SNPs), rs9892791, rs11657292, and rs1822381, were selected for a replication study involving 921 schizophrenia cases and 1244 controls. After rigorous Bonferroni correction, two of the SNPs (rs9892791 and rs11657292) displayed significant differences in allele and genotype distribution frequencies between the case and control groups. When our GWAS and replication samples were combined, the three MSI2 SNPs were all strongly associated with schizophrenia (rs9892791: allelic P = 1.07E-5; rs11657292: allelic P = 1.95E-12; rs1822381: allelic P = 1.44E-4). These results indicate that the human MSI2 gene might be a susceptibility gene for schizophrenia and encourage future research on the functional relationship between this gene and schizophrenia.

  4. Pathway Analysis for Genome-Wide Association Study of Lung Cancer in Han Chinese Population

    PubMed Central

    Wu, Chen; Jin, Guangfu; Dai, Juncheng; Wang, Cheng; Hu, Lingmin; Gou, Jianwei; Qian, Chen; Bai, Jianling; Wu, Tangchun; Hu, Zhibin; Lin, Dongxin; Shen, Hongbing; Chen, Feng

    2013-01-01

    Genome-wide association studies (GWAS) have identified a number of genetic variants associated with lung cancer risk. However, these loci explain only a small fraction of lung cancer hereditability and other variants with weak effect may be lost in the GWAS approach due to the stringent significance level after multiple comparison correction. In this study, in order to identify important pathways involving the lung carcinogenesis, we performed a two-stage pathway analysis in GWAS of lung cancer in Han Chinese using gene set enrichment analysis (GSEA) method. Predefined pathways by BioCarta and KEGG databases were systematically evaluated on Nanjing study (Discovery stage: 1,473 cases and 1,962 controls) and the suggestive pathways were further to be validated in Beijing study (Replication stage: 858 cases and 1,115 controls). We found that four pathways (achPathway, metPathway, At1rPathway and rac1Pathway) were consistently significant in both studies and the P values for combined dataset were 0.012, 0.010, 0.022 and 0.005 respectively. These results were stable after sensitivity analysis based on gene definition and gene overlaps between pathways. These findings may provide new insights into the etiology of lung cancer. PMID:23469231

  5. Association study of PARD3 gene polymorphisms with neural tube defects in a Chinese Han population.

    PubMed

    Gao, Yonghui; Chen, Xiaoli; Shangguan, Shaofang; Bao, Yihua; Lu, Xiaoli; Zou, Jizhen; Guo, Jin; Dai, Yaohua; Zhang, Ting

    2012-07-01

    Partitioning defective 3 homolog (PARD3) is an attractive candidate gene for screening neural tube defect (NTD) risk. To investigate the role of genetic variants in PARD3 on NTD risk, a case-control study was performed in a region of China with a high prevalence of NTDs. Total 53 single-nucleotide polymorphisms (SNPs) in PARD3 were genotyped in 224 fetuses with NTDs and in 253 normal fetuses. We found that 6 SNPs (rs2496720, rs2252655, rs3851068, rs118153230, rs10827337, and rs12218196) were statistically associated with NTDs (P < .05). After stratifying participants by NTD phenotypes, the significant association only existed in cases with anencephaly rather than spina bifida. Further haplotype analysis confirmed the association between PARD3 polymorphisms and NTD risk (global test P = 3.41e-008). Our results suggested that genetic variants in PARD3 were associated with susceptibility to NTDs in a Chinese Han population, and this association was affected by NTD phenotypes.

  6. Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia.

    PubMed

    Bi, Rui; Tang, Jinsong; Zhang, Wen; Li, Xiao; Chen, Shi-Yi; Yu, Dandan; Chen, Xiaogang; Yao, Yong-Gang

    2016-03-01

    The relationship between mitochondrial DNA (mtDNA) variants and schizophrenia has been strongly debated. To test whether mtDNA variants are involved in schizophrenia in Han Chinese patients, we sequenced the entire mitochondrial genomes of probands from 11 families with a family history and maternal inheritance pattern of schizophrenia. Besides the haplogroup-specific variants, we found 11 nonsynonymous private variants, one rRNA variant, and one tRNA variant in 5 of 11 probands. Among the nonsynonymous private variants, mutations m.15395 A>G and m.8536 A>G were predicted to be deleterious after web-based searches and in silico program affiliated analysis. Functional characterization further supported the potential pathogenicity of the two variants m.15395 A>G and m.8536 A>G to cause mitochondrial dysfunction at the cellular level. Our results showed that mtDNA variants were actively involved in schizophrenia in some families with maternal inheritance of this disease.

  7. The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese.

    PubMed

    Lu, Chuncheng; Zhang, Feng; Xia, Yankai; Wu, Bin; Gu, Aihua; Lu, Ningxia; Wang, Shoulin; Shen, Hongbing; Jin, Li; Wang, Xinru

    2007-01-01

    A significant proportion of male infertility is accompanied by an abnormal semen analysis, azoospermia or severe oligozoospermia, which is generally assumed to be the result of spermatogenic failure. The genetic contribution in the process of spermatogenesis, particularly the role of the Y chromosome in determination of semen quality, is still obscure. In order to explore the relationship between Y chromosome haplogroup and spermatogenic failure, we collected 285 idiopathic infertile males with azoo-/oligozoospermia and 515 fertile men, adopted 12 binary markers and recruited the subjects (cases and controls) in the same region to test whether there is a possible susceptibility of certain Y haplogroups to spermatogenic failure in the Han Chinese population. The results indicated that the prevalences of hg K in the control and the case population were 0.78% (4/515) and 2.80% (8/285), respectively. The difference between the frequencies of the hg K in the infertile males and the normal control population was significant [odds ratio (OR) = 3.69; 95% confidence interval (CI) = 1.10-12.36] (P = 0.028). However, in the other haplogroups no significant differences were found. In conclusion, Y haplogroup-K might bear a risk factor of male infertility, and the individuals in the haplogroup need to be further examined.

  8. Mitochondrial tRNA(Ser(UCN)) variants in 2651 Han Chinese subjects with hearing loss.

    PubMed

    Tang, Xiaowen; Zheng, Jing; Ying, Zhengbiao; Cai, Zhaoyang; Gao, Yinglong; He, Zheyun; Yu, Han; Yao, Juan; Yang, Yaling; Wang, Hui; Chen, Ye; Guan, Min-Xin

    2015-07-01

    Mutations in the mitochondrial DNA have been associated with hearing loss. However, the prevalence and spectrum of mitochondrial tRNA mutations in hearing-impaired subjects are poorly understood. In this report, we have investigated the prevalence and spectrum of mitochondrial tRNA(Ser(UCN)) mutations in a large cohort of 2651 Han Chinese subjects with hearing loss. The clinical evaluation showed that 744 subjects (432 males and 312 females) had a history of exposure to aminoglycosides and other probands exhibited nonsyndromic hearing loss. Mutational analysis of tRNA(Ser(UCN)) gene identified 9 (8 known and 1 novel) variants. The prevalence of the known deafness-associated 7511T>C, 7505T>C and 7445A>C mutations was 0.04%, 0.04% and 0.04%, respectively. Other variants were evaluated by the evolutionary conservation, allelic frequency of Chinese controls, potential structural and functional alterations and pedigree analysis. Three variants were polymorphisms, while the 7444G>A, 7471DelG and 7496A>G variants were putative deafness-associated mutations. These putative deafness-associated variants accounted for 0.68% cases of hearing-impaired subjects in this cohort. The low penetrance of hearing loss in pedigrees carrying one of these putative deafness-associated mutations indicated that the mutation(s) is necessary but itself insufficient to produce a clinical phenotype. Other genetic or environmental factor(s) may influence the phenotypic manifestation of these tRNA(Ser(UCN)) mutations. Moreover, mtDNAs in 20 probands carrying one of the putative deafness-associated mutations were widely dispersed among 8 Eastern Asian haplogroups. In particular, the occurrences of haplogroups D4a, M22, and H2 in patients carrying the deafness-associated variants were higher than those in Chinese controls. These data further support that the mitochondrial tRNA(Ser(UCN)) gene is the hot spot for mutations associated with hearing loss. Thus, our findings may provide valuable

  9. Association between genetic polymorphism in NFKB1 and NFKBIA and coronary artery disease in a Chinese Han population

    PubMed Central

    Lai, Hongmei; Chen, Qingjie; Li, Xiaomei; Ma, Yitong; Xu, Rui; Zhai, Hui; Liu, Fen; Chen, Bangdang; Yang, Yining

    2015-01-01

    Objectives: Prior studies have demonstrated NF-κB plays an important role in the development and progression of inflammatory diseases. The aim of this study was to investigate whether promoter polymorphisms in NFKB1 and NFKBIA gene are associated with coronary artery disease (CAD) in a Chinese Han population. Methods: A total of 1140 Han CAD patients and 1156 Han control subjects were genotyped for 4 single-nucleotide polymorphisms (SNPs) in the promoter region of NFKBIA gene (rs3138053, rs2233406, rs2233409) and NFKB1 gene (-94 ins/del ATTG, rs28362491) by using the TaqMan SNP genotyping assays, and then NFKBIA haplotype blocks were reconstructed according to our genotyping data. Results: For total, men, and women, the distribution of genotypes, alleles of rs3138053, rs2233406, rs2233409 and haplotype polymorphisms showed no significant difference between CAD cases and controls. None of the studied NFKBIA SNPs were associated with CAD. For total, men, and women, there was significant difference in the distribution of the genotypes (P=0.001, P=0.024, P= 0.022) and alleles (P=0.001, P=0.012, P=0.031) of rs28362491 in CAD cases and controls. For total, men, and women, the rs28362491 was associated with increased risk of CAD in a recessive model after adjustment for covariates (OR=1.505, 95% CI 1.190 to 1.903, P=0.001; OR=1.469, 95% CI 1.082-1.993, P=0.014; OR=1.622, 95% CI 1.118 to 2.352, P=0.011, respectively). Conclusions: In our study, the -94 ins/del ATTG polymorphism in NFKB1 promoter is associated with CAD susceptibility in Chinese Han population, providing a new insight into the genetics of CAD in Chinese Han population. PMID:26885097

  10. Genetic polymorphisms for 19 autosomal STR loci of Chongqing Han ethnicity and phylogenetic structure exploration among 28 Chinese populations.

    PubMed

    Zou, Xing; Li, YongGuo; Li, Ping; Nie, QianYun; Wang, Ting; Hu, Yue; Zhu, Ying; Li, JianBo; Tang, RenKuan

    2017-03-24

    The allele frequencies and forensic statistical parameters of 19 autosomal short tandem repeat (STR) loci (D8S1179, D21S11, D7S820, CSF1P0, D3S1358, THOl, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, FGA, D6S1043, Penta D, Penta E, and D12S391) included in the Goldeneye™ DNA ID system 20A kit were obtained in 671 Chinese Han individuals residing in Chongqing, Southwest China. All 19 STR loci were identified in agreement with the Hardy-Weinberg equilibrium. A total of 238 alleles were observed with corresponding allele frequencies that varied from 0.0007 to 0.5119. The combined power of discrimination and the combined probability of exclusion for 19 STR loci in the Chongqing Han population were 0.99999999999999999999998954 and 0.99999998387, respectively. The findings indicated that the 19 autosomal STR loci were highly polymorphic in the Chongqing Han population and can be used as a powerful tool in personal identification and parentage testing. Our genetic study enriched the Chinese local forensic reference database. Population comparisons and phylogenetic analyses revealed that genetic heterogeneity widely existed among the Chongqing Han, Xinjiang Uyghur, and Kazakh populations as well as demonstrated that genetic similarity was tightly associated with those of close geographic origin or of the same ethnic origin.

  11. Association of the candidate gene SLC1A1 and obsessive-compulsive disorder in Han Chinese population.

    PubMed

    Wu, Haisu; Wang, Xuemei; Yu, Shunying; Wang, Dongxiang; Chen, Jianhua; Jiang, Kaida; Zhu, Liping; Xiao, Zeping; Fralick, Drew

    2013-10-30

    This case-control study enrolled 578 obsessive-compulsive disorder (OCD) patients and 649 controls and genotyped rs10491734, rs2228622, rs301430 and rs301443 to replicate association of the SLC1A1 gene with OCD in ethnic Han Chinese. The G-A-C-G and G-G-T-C haplotypes were found to be significantly associated with OCD in overall samples, male samples and female samples.

  12. Analysis of LRRK2, SNCA, and ITGA8 Gene Variants with Sporadic Parkinson's Disease Susceptibility in Chinese Han Population.

    PubMed

    Fang, Jie; Yi, Kehui; Guo, Mingwei; An, Xingkai; Qu, Hongli; Lin, Qing; Bi, Min; Ma, Qilin

    2016-01-01

    Background. Parkinson's disease (PD) is an age-related neurodegenerative disease affected by multiple genetic and environmental factors. We performed a case-control study on candidate gene to scrutinize whether genetic variants in LRRK2, SNCA, and ITGA8 genes could be associated with sporadic PD in Chinese Han population. Methods. Five single-nucleotide polymorphisms (SNPs) of LRRK2 (rs1491942), SNCA (rs2301134, rs2301135, and rs356221), and ITGA8 (rs7077361) were selected and genotyped among 583 unrelated PD patients and 558 healthy controls. Results. Rs1491942 of LRRK2 gene had a significantly higher genotype frequency (P = 3.543E - 09) and allelic G/C frequencies (P = 2.601E - 10) in PD patients than controls. Rs2301135 of SNCA gene also showed an obvious difference in genotype frequency (P = 4.394E - 07) and allelic G/C frequencies (P = 9.116E - 13) between PD patients and controls. SNPs rs2301134 and rs356221 of SNCA gene and rs7077361 of ITGA8 gene lacked the significant association with the susceptibility of PD in Chinese Han population. Conclusions. Our study firstly expresses that rs1491942 of LRRK2 and rs2301135 of SNCA gene are substantially associated with sporadic Parkinson's disease in Chinese Han population.

  13. TNFAIP3 rs2230926 polymorphisms in rheumatoid arthritis of southern Chinese Han population: a case-control study.

    PubMed

    Hao, Guifeng; Li, Yasong; Liu, Jinlin; Wo, Mingyi

    2014-01-01

    Polymorphism of tumor necrosis factor alpha-induced protein 3 (TNFAIP3) has been be related to various auto-immune diseases. Based on previous studies that the single nucleotide polymorphism (SNP) of rs2230926 was association with rheumatoid arthritis (RA) of Japanese, Caucasian population and the northern Chinese Han population, we tested the alleles and geno-type frequencies of rs2230926 in TNFAIP3 to investigate whether rs2230926 is susceptible to RA of southern Chinese Han population. In our case-control association study, 207 RA patients fulfilling the American College of Rheumatology (ACR) 1987 criteria were compared with 199 unrelated healthy subjects. After testing the alleles and genotype frequencies of rs2230926, the airwise linkage disequilibrium (LD) was computed and odd ration (OR) and 95% confidence intervals (95% CI) were used for evaluating the susceptibility to RA. The SNP of rs2230926 of the cases and control subjects were conformed to the Hardy-Weinberg equilibrium (P = 0.02257). The significantly statistical differences in alleles of T, G were founded in the cases and controls (P = 0.0027, OR 0.417, 95% CI 0.232-0.749); the genetic types of rs2230926 were associated with a susceptibility to RA, with OR 0.375 (95% CI 0.198-0.707, P = 0.0018). In the present study, our results indicated that the genetic polymorphism of rs2230926 in TNFAIP3 may be a susceptible factor conferring risk for RA in southern Chinese Han population.

  14. Genetic Polymorphisms in Estrogen-Related Genes and the Risk of Breast Cancer among Han Chinese Women

    PubMed Central

    Sun, Min-Ying; Du, Hong-Yan; Zhu, An-Na; Liang, Hui-Ying; de Garibay, Gorka Ruiz; Li, Fen-Xia; Li, Ming; Yang, Xue-Xi

    2015-01-01

    Exposure to high levels of estrogen is considered an important risk factor for susceptibility to breast cancer. Common polymorphisms in genes that affect estrogen levels may be associated with breast cancer risk, but no comprehensive study has been performed among Han Chinese women. In the present study, 32 single-nucleotide polymorphisms (SNPs) in estrogen-related genes were genotyped using the MassARRAY IPLEX platform in 1076 Han Chinese women. Genotypic and allelic frequencies were compared between case and control groups. Unconditional logistic regression was used to assess the effects of SNPs on breast cancer risk. Associations were also evaluated for breast cancer subtypes stratified by estrogen receptor (ER) and progesterone receptor (PR) status. Case-control analysis showed a significant relation between heterozygous genotypes of rs700519 and rs2069522 and breast cancer risk (OR = 0.723, 95% CI = 0.541–0.965, p = 0.028 and OR = 1.500, 95% CI = 1.078–2.087, p = 0.016, respectively). Subgroup comparisons revealed that rs2446405 and rs17268974 were related to ER status, and rs130021 was associated with PR status. Our findings suggest that rs700519 and rs2069522 are associated with susceptibility to breast cancer among the Han Chinese population and have a cumulative effect with three other identified SNPs. Further genetic and functional studies are needed to identify additional SNPs, and to elucidate the underlying molecular mechanisms. PMID:25689428

  15. The Association between NOS3 Gene Polymorphisms and Hypoxic-Ischemic Encephalopathy Susceptibility and Symptoms in Chinese Han Population

    PubMed Central

    Wu, Yongqin; Fang, Xiaoxia; Yin, Ling; Liu, Yuxia; Xu, Shouxia; Li, Aixue

    2016-01-01

    Endothelial NOS (NOS3) has a potential role in the prevention of neuronal injury in hypoxic-ischemic encephalopathy (HIE). Thus, we aimed to explore the association between NOS3 gene polymorphisms and HIE susceptibility and symptoms in a Chinese Han population. Three single nucleotide polymorphisms (SNPs) in the NOS3 gene, rs1800783, rs1800779, and rs2070744, were detected in 226 children with HIE and 212 healthy children in a Chinese Han population. Apgar scores and magnetic resonance image scans were used to estimate the symptoms and brain damage. The association analyses were conducted by using SNPStats and SPSS 18.0 software. The genotype and allele distributions of rs1800779 and rs1799983 displayed no significant differences between the patients and the controls, while the rs2070744 allele distribution was significantly different (corrected P = 0.009). For clinical characteristics, the rs2070744 genotype distribution was significantly different in patients with different Apgar scores (≤5, TT/TC/CC = 6/7/5; 6~7, TT/TC/CC = 17/0/0; 8~9, TT/TC/CC = 6/2/0; 10, TT/TC/CC = 7/1/0; corrected P = 0.006) in the 1001 to 1449 g birth weight subgroup. The haplotype test did not show any associations with the risk and clinical characteristics of HIE. The results suggest that NOS3 gene SNP rs2070744 was significantly associated with HIE susceptibility and symptom expression in Chinese Han population. PMID:28070505

  16. Association study between polymorphisms of PRMT6, PEX10, SOX5, and nonobstructive azoospermia in the Han Chinese population.

    PubMed

    Zou, Shasha; Li, Zheng; Wang, Yanan; Chen, Tingting; Song, Pingping; Chen, Jianhua; He, Xiaojin; Xu, Peng; Liang, Ming; Luo, Kailing; Zhu, Xiaobin; Tian, Erpo; Du, Qiang; Wen, Zujia; Li, Zhiqiang; Wang, Meng; Sha, Yanwei; Cao, Yunxia; Shi, Yongyong; Hu, Hongliang

    2014-05-01

    A previous genomewide association study of nonobstructive azoospermia (NOA) in the Han Chinese population identified three risk loci (rs12097821, rs2477686, and rs10842262) and provided strong evidence for a genetic influence in male infertility. However, recently, a follow-up study of these single nucleotide polymorphism (SNP) loci in the Japanese population showed that none of them were significantly associated with NOA. Therefore, we conducted an association study, consisting of 550 NOA cases and 555 normal controls, to further validate whether the risk of those three SNPs still existed in an independent Han Chinese male population. The association studies did not support the association of rs12097821 and rs2477686 with NOA for both genotype and allele distributions, but rs10842262 in the SOX5 gene was significantly associated with NOA (chi square = 9.31; P = 0.0095 and chi square = 9.27; P = 0.0023, respectively). Our study provides genetic evidence for SOX5 polymorphism in NOA, contributing to predicting males at high risk of NOA in Han Chinese population. Considering genetic differences among populations, future validating studies in independent samples are suggested.

  17. Common and rare exonic MUC5B variants associated with type 2 diabetes in Han Chinese

    PubMed Central

    Zhang, Zhenjian; Adebamowo, Sally N.; Liu, Guozheng; Adeyemo, Adebowale; Zhou, Yanxun; Doumatey, Ayo P.; Wang, Chuntao; Zhou, Jie; Yan, Wenqiang; Shriner, Daniel; Tekola-Ayele, Fasil; Bentley, Amy R.; Jiang, Congqing; Rotimi, Charles N.

    2017-01-01

    Genome-wide association studies have identified over one hundred common genetic risk variants associated with type 2 diabetes (T2D). However, most of the heritability of T2D has not been accounted for. In this study, we investigated the contribution of rare and common variants to T2D susceptibility by analyzing exome array data in 1,908 Han Chinese genotyped with Affymetrix Axiom® Exome Genotyping Arrays. Based on the joint common and rare variants analysis of 57,704 autosomal SNPs within 12,244 genes using Sequence Kernel Association Tests (SKAT), we identified significant associations between T2D and 25 variants (9 rare and 16 common) in MUC5B, p-value 1.01×10−14. This finding was replicated (p = 0.0463) in an independent sample that included 10,401 unrelated individuals. Sixty-six of 1,553 possible haplotypes based on 25 SNPs within MUC5B showed significant association with T2D (Bonferroni corrected p values < 3.2×10−5). The expression level of MUC5B is significantly higher in pancreatic tissues of persons with T2D compared to those without T2D (p-value = 5×10−5). Our findings suggest that dysregulated MUC5B expression may be involved in the pathogenesis of T2D. As a strong candidate gene for T2D, MUC5B may play an important role in the mechanisms underlying T2D etiology and its complications. PMID:28346466

  18. Prevalence of the HPA-18w to -21w alleles in the Chinese Han population.

    PubMed

    Liu, Y; Hong, X; Xu, X; Ying, Y; He, J; Zhu, F; Lv, H; Yan, L

    2013-04-01

    Recently, four new platelet alloantigen (HPA) systems HPA-18w to-21w were identified. However, genotyping for HPA-18w to -21w alleles was rarely reported. Here, we established a polymerase chain reaction sequence-based typing (PCR-SBT) method and investigated the distribution of HPA-18w to -21w alleles in the Chinese Han population. The specific primers of HPA-18w, -19w, -20w and -21w were designed, and the PCR products were bidirectionally sequenced. 855 randomly selected platelet donors were genotyped for HPA-18w to -21w with the PCR-SBT method. The results showed that all individuals were monomorphic for HPA-18w to HPA-20w with a/a homozygous frequency of 1.0 and absence of HPA-18bw to -20bw alleles. The frequencies of the HPA-21a/21a and HPA-21a/21b genotypes were 0.981(839/855) and 0.019(16/855), respectively. Seven mutations were confirmed on sequenced region separate from HPA polymorphisms, including ITGA2 (IVS17+48G>A and IVS17+72G>A), ITGA2B (IVS19-26C>G) and ITGB3 (IVS4+234C>T, IVS11-19 T>C, IVS11-104T>C and GT repeats from IVS11-131 to IVS11-109). These data will provide useful information for diagnosis, prevention and treatment of alloimmune thrombocytopaenia.

  19. Genome-Wide Association Study of Treatment Refractory Schizophrenia in Han Chinese

    PubMed Central

    Chiang, Hung-Lun; Chen, Cheng-Chung; Lin, Ching-Hua; Chung, Ming-Shun; Kuo, Chien-Cheng; Liao, Ding-Lieh; Wu, Ching-Kuan; Liu, Chih-Min; Liu, Yu-Li; Hwu, Hai-Gwo; Lai, I-Ching; Tsai, Shih-Jen; Chen, Chia-Hsiang; Liu, Hui-Fen; Chou, Yi-Chun; Chen, Chien-Hsiun; Chen, Yuan-Tsong; Hong, Chen-Jee; Wu, Jer-Yuarn

    2012-01-01

    We report the first genome-wide association study of a joint analysis using 795 Han Chinese individuals with treatment-refractory schizophrenia (TRS) and 806 controls. Three loci showed suggestive significant association with TRS were identified. These loci include: rs10218843 (P = 3.04×10−7) and rs11265461 (P = 1.94×10−7) are adjacent to signaling lymphocytic activation molecule family member 1 (SLAMF1); rs4699030 (P = 1.94×10−6) and rs230529 (P = 1.74×10−7) are located in the gene nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1); and rs13049286 (P = 3.05×10−5) and rs3827219 (P = 1.66×10−5) fall in receptor-interacting serine/threonine-protein kinase 4 (RIPK4). One isolated single nucleotide polymorphism (SNP), rs739617 (P = 3.87×10−5) was also identified to be associated with TRS. The -94delATTG allele (rs28362691) located in the promoter region of NFKB1 was identified by resequencing and was found to associate with TRS (P = 4.85×10−6). The promoter assay demonstrated that the -94delATTG allele had a significant lower promoter activity than the -94insATTG allele in the SH-SY5Y cells. This study suggests that rs28362691 in NFKB1 might be involved in the development of TRS. PMID:22479419

  20. Association of VEGF gene polymorphisms with sporadic Parkinson's disease in Chinese Han population.

    PubMed

    Wu, Yubin; Zhang, Yingying; Han, Xun; Li, Xiaoyuan; Xue, Li; Xie, Anmu

    2016-12-01

    Recent evidence indicates that vascular endothelial growth factor (VEGF) is capable of protecting dopaminergic (DA) neurons. Parkinson's disease (PD) is a progressive neurodegenerative disease caused by the degeneration of nigrostriatal dopaminergic neurons. To evaluate the role of VEGF single nucleotide polymorphisms (SNPs) and haplotypes in PD, we performed a case-control study including 400 PD patients and 400 healthy-matched controls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis and DNA sequencing were used to detect the rs699947, rs2010963 and rs3025039 polymorphisms of the VEGF gene in cases and controls. Our study revealed that T allelic frequency of rs3025039 polymorphism was significantly higher in PD subjects (OR 1.497, 95 % CI 1.099-2.040, P = 0.013) than that in controls. Significant association for rs3025039 could be found in additive model (TT vs. CT vs. CC: OR 1.489, 95 % CI 1.018-2.177, P = 0.040) and dominant model (TT + CT vs. CC: OR 1.538, 95 % CI 1.068-2.216, P = 0.021). Subgroup analyses performed by gender suggested that this association could be found in male, but not in female. Moreover, it also demonstrated a significant association in the subgroup of late-onset PD (LOPD). However, for rs699947 and rs2010963 polymorphisms, genotype or allele frequencies did not differ between groups. No significant association could be found between rs699947 and rs2010963 polymorphism and PD risk. None of the observed haplotypes showed significant association with PD. Therefore, these results suggested that the VEGF gene might be associated with risk of developing sporadic PD in Han Chinese and the rs3025039 polymorphism may be a risk factor for sporadic PD.

  1. Multiple epigenetic factors predict the attention deficit/hyperactivity disorder among the Chinese Han children.

    PubMed

    Xu, Yi; Chen, Xiang-Tao; Luo, Man; Tang, Yuqing; Zhang, Guangxiang; Wu, De; Yang, Bin; Ruan, Di-Yun; Wang, Hui-Li

    2015-05-01

    Attention deficit/hyperactivity disorder (ADHD) is one of the most common psychiatric disorders of childhood. Despite its prevalence, the critical factors involved in its development remain to be identified. It was recently suggested that epigenetic mechanisms probably contribute to the etiology of ADHD. The present study was designed to examine the associations of epigenetic markers with ADHD among Chinese Han children, aiming to establish the prediction model for this syndrome from the epigenetic perspective. We conducted a pair-matching case-control study, and the ADHD children were systematically evaluated via structured diagnostic interviews, including caregiver interviews, based on the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, revised criteria (DSM-IV-R). The expression levels of risk genes DAT1, DRD4, DRD5, as well as their promoter methylation, were determined respectively, followed by the expression profiles of histone-modifying genes p300, MYST4, HDAC1, MeCP2. The multivariate logistic regressions were performed to establish ADHD prediction models. All of the seven genes tested were identified as risk factors for ADHD. The methylation of one critical CpG site located upstream of DRD4 was shown to affect its transcription, suggesting a role in ADHD's development. Aberrant DNA methylation and histone acetylation were indicated in ADHD patients. In addition, a prediction model was established using the combination of p300, MYST4 and HDAC1, with the accuracy of 0.9338. This is, to our knowledge, the first study to clearly demonstrate the associations between epigenetic markers and ADHD, shedding light on the preliminary diagnosis and etiological studies of this widespread disorder.

  2. Association of fibronectin Msp iv polymorphism and diabetic nephropathy susceptibility in Chinese Han population

    PubMed Central

    Gao, Jinxiang; Zhang, Xuezhong; Diao, Huiling; Liu, Yunqi; Lv, Min; Dong, Hua; Zhang, Xiaomin; Wang, Yaning

    2015-01-01

    Aim: Our study was aimed to study the distributional characteristics of fibronectin (Fn) Msp iv polymorphism in Chinese Han Population and investigate its association with susceptibility and clinicopathologic features of diabetic nephropathy (DN). Methods: Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were applied to testify Fn Msp iv genotypes among 108 patients with DN and 86 healthy individuals. Odds ratio (OR) with 95% confidence interval (CI) were used to evaluate the association of Fn Msp iv polymorphism and onset risk and clinicopathologic stages of DN. Results: The comparison of genotype and allele distribution in normal, micro and massive proteinuria groups showed that genotype and allele distribution in massive proteinuria group showed great differences, compared with those of control group (P = 0.006, P = 0.004). Further analysis on the association of Fn Msp iv polymorphism and occurrence of abnormal proteinuria suggested that DD genotype and D allele appeared to be a risk factor for abnormal proteinuria (OR = 3.553, 95% CI = 1.278-9.875; OR = 2.442, 95% CI = 1.378-4.327). Then, we analyzed the effects of Fn Msp iv polymorphism on the clinicopathologic stages of DN, the result showed that DD genotype showed great effect on the occurrence of early-onset DN (OR = 7.500, 95% CI = 1.691-33.272). For the DN patients with D allele, the risk for early-onset DN was increased 3.445 folds (OR = 4.445, 95% CI = 1.869-33.10.574). Conclusion: Fn Msp iv polymorphism appeared to be associated with DN susceptibility. PMID:26045844

  3. Association of LRRK2 R1628P variant with Parkinson’s disease in Ethnic Han-Chinese and subgroup population

    PubMed Central

    Zhang, Pei; Wang, Qingzhi; Jiao, Fengjuan; Yan, Jianguo; Chen, Lijun; He, Feng; Zhang, Qian; Tian, Bo

    2016-01-01

    Recent studies have linked certain single nucleotide polymorphisms in the leucine-rich repeat kinase 2 (LRRK2) gene with Parkinson’s disease (PD). The R1628P variant of LRRK2 may be a specific risk factor for PD in ethnic Han-Chinese populations. This study is to elucidate the epidemiological feature of R1628P in ethnic Han-Chinese population with PD. A comprehensive meta-analysis was performed to evaluate the precise association between R1628P variant and the risk for PD in ethnic Han-Chinese and subgroups stratified by gender, onset age, or family history. The analysis assessing the role of R1628P on the risk of PD in ethnic Han-Chinese supported a significant association, and the odds ratio was 1.86. We further estimate the specific prevalence in relevant ethnic Han-Chinese subgroups. After stratifying the eligible data by gender, onset age, or family history, significant associations were found in all male, female, early-onset, late-onset, familial and sporadic subgroups, and the odds ratio were 1.90, 1.94, 2.12, 1.75, 6.71 and 1.81 respectively. In conclusion, our meta-analysis suggests that R1628P variant of LRRK2 has a significant association with the risk of PD in ethnic Han-Chinese and subgroup population. PMID:27812003

  4. Genetic Variants at 13q12.12 Are Associated with High Myopia in the Han Chinese Population

    PubMed Central

    Shi, Yi; Qu, Jia; Zhang, Dingding; Zhao, Peiquan; Zhang, Qingjiong; Tam, Pancy Oi Sin; Sun, Liangdan; Zuo, Xianbo; Zhou, Xiangtian; Xiao, Xueshan; Hu, Jianbin; Li, Yuanfeng; Cai, Li; Liu, Xiaoqi; Lu, Fang; Liao, Shihuang; Chen, Bin; He, Fei; Gong, Bo; Lin, He; Ma, Shi; Cheng, Jing; Zhang, Jie; Chen, Yiye; Zhao, Fuxin; Yang, Xian; Chen, Yuhong; Yang, Charles; Lam, Dennis Shun Chiu; Li, Xi; Shi, Fanjun; Wu, Zhengzheng; Lin, Ying; Yang, Jiyun; Li, Shiqiang; Ren, Yunqing; Xue, Anquan; Fan, Yingchuan; Li, Dean; Pang, Chi Pui; Zhang, Xuejun; Yang, Zhenglin

    2011-01-01

    High myopia, which is extremely prevalent in the Chinese population, is one of the leading causes of blindness in the world. Genetic factors play a critical role in the development of the condition. To identify the genetic variants associated with high myopia in the Han Chinese, we conducted a genome-wide association study (GWAS) of 493,947 SNPs in 1088 individuals (419 cases and 669 controls) from a Han Chinese cohort and followed up on signals that were associated with p < 1.0 × 10−4 in three independent cohorts (combined, 2803 cases and 5642 controls). We identified a significant association between high myopia and a variant at 13q12.12 (rs9318086, combined p = 1.91 × 10−16, heterozygous odds ratio = 1.32, and homozygous odds ratio = 1.64). Furthermore, five additional SNPs (rs9510902, rs3794338, rs1886970, rs7325450, and rs7331047) in the same linkage disequilibrium (LD) block with rs9318086 also proved to be significantly associated with high myopia in the Han Chinese population; p values ranged from 5.46 × 10−11 to 6.16 × 10−16. This associated locus contains three genes—MIPEP, C1QTNF9B-AS1, and C1QTNF9B. MIPEP and C1QTNF9B were found to be expressed in the retina and retinal pigment epithelium (RPE) and are more likely than C1QTNF9B-AS1 to be associated with high myopia given the evidence of retinal signaling that controls eye growth. Our results suggest that the variants at 13q12.12 are associated with high myopia. PMID:21640322

  5. Association of HSD17B3 and HSD3B1 polymorphisms with acne vulgaris in Southwestern Han Chinese.

    PubMed

    Yang, Xiao-Yan; Wu, Wen-Juan; Yang, Cheng; Yang, Ting; He, Jun-Dong; Yang, Zhi; He, Li

    2013-01-01

    Acne vulgaris is a very common skin disorder. Previous studies have indicated that genetic background factors play key roles in the onset of acne. Our previous investigation implicated several genes in the androgen metabolism pathway with acne vulgaris in the Han Chinese population. Thus, we further investigated genes and genetic variants that play important roles in this pathway for their relationship with the pathology of acne. In this study, a total of 610 subjects, including 403 acne patients and 207 healthy controls, were genotyped for 15 single-nucleotide polymorphisms in HSD3B1 and HSD17B3 genes. This study shows that rs6428829 in HSD3B1 was associated with acne vulgaris in Han patients from Southwest China, even after adjusting for age and sex. The GG genotype was associated with an increased risk of acne vulgaris (p < 0.05) and G allele carriers were associated with an increased risk of acne vulgaris (p < 0.05). In addition, the haplotype AAT in HSD3B1 significantly increased the risk of acne vulgaris in the case-control study (p < 0.05). Furthermore, for another gene in this pathway, HSD17B3, the haplotype H8 was significantly associated with an increased risk of acne vulgaris. Based on these analyses, our study indicates that the cutaneous androgen metabolism-regulated genes HSD3B1 and HSD17B3 increase the susceptibility to acne vulgaris in Han Chinese from Southwest China.

  6. An investigation of obesity susceptibility genes in Northern Han Chinese by targeted resequencing

    PubMed Central

    Wu, Yili; Wang, Weijing; Jiang, Wenjie; Yao, Jie; Zhang, Dongfeng

    2017-01-01

    Abstract Our earlier genome-wide linkage study of body mass index (BMI) showed strong signals from 7q36.3 and 8q21.13. This case–control study set to investigate 2 genomic regions which may harbor variants contributed to development of obesity. We employed targeted resequencing technology to detect single nucleotide polymorphisms (SNPs) in 7q36.3 and 8q21.13 from 16 individuals with obesity. These were compared with 504 East Asians in the 1000 Genomes Project as a reference panel. Linkage disequilibrium (LD) block analysis was performed for the significant SNPs located near the same gene. Genes involved in statistically significant loci were then subject to gene set enrichment analysis (GSEA). The 16 individuals aged between 30 and 60 years with BMI = 33.25 ± 2.22 kg/m2. A total of 12,131 genetic variants across all of samples were found. After correcting for multiple testing, 65 SNPs from 25 nearest genes (INSIG1, FABP5, PTPRN2, VIPR2, WDR60, SHH, UBE3C, LMBR1, PAG1, IMPA1, CHMP4, SNX16, BLACE, EN2, CNPY1, LOC100506302, RBM33, LOC389602, LOC285889, LINC01006, NOM1, DNAJB6, LOC101927914, ESYT2, LINC00689) were associated with obesity at significant level q-value ≤ 0.05. LD block analysis showed there were 10 pairs of loci with D′ ≥ 0.8 and r2 ≥ 0.8. GSEA further identified 2 major related gene sets, involving lipid raft and lipid metabolic process, with FDR values <0.12 and <0.4, respectively. Our data are the first documentation of genetic variants in 7q36.3 and 8q21.13 associated with obesity using target capture sequencing and Northern Han Chinese samples. Additional replication and functional studies are merited to validate our findings. PMID:28207535

  7. Identification of vaginal fluid, saliva, and feces using microbial signatures in a Han Chinese population.

    PubMed

    Zou, Kai-Nan; Ren, Li-Jie; Ping, Yuan; Ma, Ke; Li, Hui; Cao, Yu; Zhou, Huai-Gu; Wei, Yi-Liang

    2016-10-01

    In recent years, forensic scientists have focused on the discrimination of body fluids using microbial signatures. In this study, we performed PCR-based detection of microbial signatures of vaginal fluid, saliva, and feces in a Han Chinese population. We investigated the 16S rRNA genes of Lactobacillus crispatus, Lactobacillus gasseri, Lactobacillus jensenii, Lactobacillus iners, and Atopobium vaginae in vaginal fluid, the 16S rRNA and the glucosyltransferase enzyme genes of Streptococcus salivarius and Streptococcus mutans in saliva, and the 16S rRNA genes of Enterococcus species, the RNA polymerase β-subunit gene of Bacteroides uniformis and Bacteroides vulgatus, and the α-1-6 mannanase gene of Bacteroides thetaiotaomicron in feces. As a result, the detection proportions of L. crispatus, L. gasseri, L. jensenii, L. iners, and A. vaginae were 15/16, 5/16, 8/16, 14/16, and 3/16 in 16 vaginal fluid donors, respectively. L. crispatus and L. jensenii were specifically detected in vaginal fluid; L. gasseri, L. iners, and A. vaginae were also detected in non-vaginal fluid. S. salivarius and S. mutans were not specifically detected in saliva. The detection proportions of Enterococcus species, B. uniformis, B. vulgatus, and B. thetaiotaomicron in 16 feces samples were 16/16, 12/16, 15/16, and 11/16, respectively. B. uniformis and B. thetaiotaomicron were specifically detected in feces. In addition, DNA samples prepared for the identification of body fluid can also be used for individual identification by short tandem repeat typing. The mean detection sensitivities of L. crispatus and L. jensenii were 0.362 and 0.249 pg/uL, respectively. In conclusion, L. crispatus, L. jensenii, B. uniformis, and B. thetaiotaomicron can be used as effective markers for forensic identification of vaginal fluid and feces.

  8. Association between the KRAS Gene Polymorphisms and Papillary Thyroid Carcinoma in a Chinese Han Population

    PubMed Central

    Ning, Lifeng; Rao, Wenwang; Yu, Yaqin; Liu, Xiaoli; Pan, Yuchen; Ma, Yuan; Liu, Rui; Zhang, Shangchao; Sun, Hui; Yu, Qiong

    2016-01-01

    Several studies have reported the association between MAPK signaling pathway gene polymorphisms and papillary thyroid carcinoma (PTC). KRAS gene, an oncogene from the mammalian RAS gene family plays an important role in the MAPK pathway. This study aimed to identify the potential association of KRAS gene polymorphisms with susceptibility to PTC in a Han Chinese population. A total of 861 patients with PTC, 562 disease controls with nodular goiter and 897 healthy controls were recruited. Four tagSNP polymorphisms (rs12427141, rs712, rs7315339 and rs7960917) of KRAS gene were genotyped by matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS). Statistical analyses and haplotype estimations were conducted using Haploview and Unphased softwares. Only significant differences were observed in genotypic frequencies of the rs7315339 polymorphism (χ2 =7.234, df=2, p=0.027) between PTC and disease controls. Statistically significant differences in both allelic and genotypic genotypes frequencies for rs712 (Genotype, χ2=8.258, p=0.016) and rs12427141 (Allele, χ2=3.992, p=0.046; Genotype, χ2=8.140, p=0.017) were observed between PTC patients and controls. Haplotype analyses revealed higher frequencies of GA and TA haplotypes (p=0.039 and p=0.003, respectively) from rs712- rs12427141 (two-SNP) or TGA and TTG haplotype containing the alleles from rs7960917, rs712 and rs12427141, as well as the GAT haplotype containing the alleles from rs712, rs12427141 and rs7315339 in PTC patients than in healthy controls (p=0.042, p=0.037, p=0.027, respectively). Inversely, the haplotype TTA from rs7960917, rs712 and rs12427141 or the haplotype TAC from rs712, rs12427141 and rs7315339 was significantly less frequent in the PTC patients than in normal control (p=0.003, p=0.003, respectively). These findings suggest the role of these KRAS gene variants in susceptibility to PTC. Moreover, significant differences of the KRAS gene polymorphisms may occur

  9. Genetic variants associated with lean and obese type 2 diabetes in a Han Chinese population: A case-control study.

    PubMed

    Kong, Xiaomu; Xing, Xiaoyan; Hong, Jing; Zhang, Xuelian; Yang, Wenying

    2016-06-01

    Type 2 diabetes (T2D) is highly phenotypically heterogeneous. Genetics of the heterogeneity of lean and obese T2D is not clear. The aim of the present study was to identify the associations of T2D-related genetic variants with the risks for lean and obese T2D among the Chinese Han population. A case-control study consisting of 5338 T2D patients and 4663 normal glycemic controls of Chinese Han recruited in the Chinese National Diabetes and Metabolic Disorders Study was conducted. T2D cases were identified according to the 1999 World Health Organization criteria. Lean T2D was defined as T2D patient with a body mass index (BMI) <23 kg/m, whereas obese T2D was defined as T2D patient with a BMI ≥28 kg/m. Twenty-five genome-wide association studies previously validated T2D-related single-nucleotide polymorphisms (SNPs) were genotyped. A genotype risk score (GRS) based on the 25 SNPs was created. After adjusting for multiple covariates, SNPs in or near CDKAL1, CDKN2BAS, KCNQ1, TCF7L2, CDC123/CAMK1D, HHEX, and TCF2 were associated with the risk for lean T2D, and SNPs in or near KCNQ1 and FTO were associated with the risk for obese T2D. The results showed that the GRS for 25 T2D-related SNPs was more strongly associated with the risk for lean T2D (Ptrend = 2.66 × 10) than for obese T2D (Ptrend = 2.91 × 10) in our study population. Notably, the T2D GRS contributed to lower obesity-related measurements and greater β-cell dysfunction, including lower insulin levels in oral glucose tolerance test, decreased insulinogenic index, and Homeostasis Model Assessment for β-cell Function. In conclusion, our findings identified T2D-related genetic loci that contribute to the risk of lean and obese T2D individually and additively in a Chinese Han population. Moreover, the study highlights the contribution of known T2D genomic loci to the heterogeneity of lean and obese T2D in Chinese Hans.

  10. Association of mineralization-related genes TNAP and ANKH polymorphisms with ankylosing spondylitis in the Chinese Han population.

    PubMed

    Liu, Zeying; Cui, Yazhou; Zhou, Xiaoyan; Zhang, Xiumei; Han, Jinxiang

    2013-04-01

    The aim of this study was to investigate two mineralization-related genes TNAP and ANKH polymorphisms associated with ankylosing spondylitis (AS) in the North Chinese Han population. We carried out a case-control study in Chinese AS cohorts involving 278 AS patients and 286 unrelated healthy controls. Five TNAP SNPs (rs3200254, rs1256348, rs1472563, rs1780329, rs3767155) and four ANKH SNPs (rs25957, rs26307, rs27356, rs28006) were genotyped by the Multiplex Snapshot method. There were significant differences in genotype (permutated p = 0.00481) and allele (permutated p = 0.0126) frequencies of the rs26307 ANKH SNP between AS patients and controls. Logistic regression analysis suggested an association of AS with the polymorphism in an additive model (OR = 0.640, 95%CI = 0.480-0.853, p = 0.0023, permutation 10,000 corrected p = 0.0158) and a dominant model (OR = 0.599, 95%CI = 0.423-0.846, p = 0.0037, permutation 10,000 corrected p = 0.022). Haplotype analysis identified the ANKH haplotype rs26307(C)/rs27356 (T) as a predisposing factor for AS (OR = 1.53, 95%CI = 1.165-2.071, p = 0.0026, permutation 10,000 corrected p = 0.0103). This study provides evidence that variation in the ANKH gene influences susceptibility to AS in the Northern Han Chinese population.

  11. Gender-Specific Association of ATP2B1 Variants with Susceptibility to Essential Hypertension in the Han Chinese Population.

    PubMed

    Xu, Jin; Qian, Hai-xia; Hu, Su-pei; Liu, Li-ya; Zhou, Mi; Feng, Mei; Su, Jia; Ji, Lin-dan

    2016-01-01

    Previous genome-wide association studies (GWASs) found that several ATP2B1 variants are associated with essential hypertension (EHT). But the "genome-wide significant" ATP2B1 SNPs (rs2681472, rs2681492, rs17249754, and rs1105378) are in strong linkage disequilibrium (LD) and are located in the same LD block in Chinese populations. We asked whether there are other SNPs within the ATP2B1 gene associated with susceptibility to EHT in the Han Chinese population. Therefore, we performed a case-control study to investigate the association of seven tagSNPs within the ATP2B1 gene and EHT in the Han Chinese population, and we then analyzed the interaction among different SNPs and nongenetic risk factors for EHT. A total of 902 essential hypertensive cases and 902 normotensive controls were involved in the study. All 7 tagSNPs within the ATP2B1 gene were retrieved from HapMap, and genotyping was performed using the Tm-shift genotyping method. Chi-squared test, logistic regression, and propensity score analysis showed that rs17249754 was associated with EHT, particularly in females. The MDR analysis demonstrated that the interaction of rs2070759, rs17249754, TC, TG, and BMI increased the susceptibility to hypertension. Crossover analysis and stratified analysis indicated that BMI has a major effect on the development of hypertension, while ATP2B1 variants have a minor effect.

  12. Positive association between the brain-derived neurotrophic factor (BDNF) gene and bipolar disorder in the Han Chinese population.

    PubMed

    Xu, Jie; Liu, Yun; Wang, Peng; Li, Sheng; Wang, Yabing; Li, Jun; Zhou, Daizhan; Chen, Zhuo; Zhao, Teng; Wang, Ting; Xu, He; Yang, Yifeng; Feng, Guoyin; He, Lin; Yu, Lan

    2010-01-05

    Brain-derived neurotrophic factor (BDNF) is the most widely distributed neurotrophin in the central nervous system (CNS), and services many biological functions such as neural survival, differentiation, and plasticity. Previous studies have suggested that the Val66Met (also known as rs6265 or G196A) variant of BDNF is associated with bipolar disorder (BPD), but the results have been inconclusive. We therefore genotyped the Val66Met polymorphism in a Han Chinese population sample (498 cases and 501 control subjects). We found that the BDNF genotype is associated with BPD in this population (chi(2) = 9.4666, df = 2, P = 0.00884). Furthermore, our data suggested that the Met allele rather than the Val allele increased the risk for BPD in our Han population (OR = 1.44; 95% CI = 1.070-1.950; P = 0.016). Further studies are necessary to elucidate the involvement of the BDNF gene in the pathophysiology of BPD.

  13. Gene expression profiling by mRNA array reveals different pattern in Chinese glioblastoma patients between Uygur and Han populations

    PubMed Central

    Liu, Liang; Xia, Haichen; Luan, Xinping; Dun, Zhiping; Zhu, Zhengquan; Dushan, Bieke; Li, Wenting

    2015-01-01

    Objective: To identify differentially expressed genes in Chinese glioblastoma patients of Uygur and Han populations, and investigate their potential clinical value for pathogenesis determination and progress prediction. Methods: Gene expression profiling was obtained from three patients of each Uygur and Han nationalities, respectively, by mRNA expression array. Data were processed by the GenomeStudio software and language R of the Lumi package, followed by GO (Gene Ontology) term and KEGG pathway annotation analysis by the Web Gestalt software. Results: The comparative analysis of genome-scale gene expression in glioblastomas revealed 1,475 differentially expressed genes, with 669 and 807 genes up-regulated and down-regulated, respectively. These included the STRC gene, which has two transcripts, one up-regulated and one down-regulated. GO term analysis suggested that 1,175 out of 1,475 key genes were involved in small GTPase mediated signal transduction, Ras protein signal transduction, bioprocess of neuronal response regulation, and central nervous system myelination. The KEGG pathway enrichment analysis showed that the differentially expressed genes were covered by 28 signaling pathways associated with tumorigenesis, including metabolic pathways, tumor suppressor pathways, MAP kinase signaling pathways, TGF-β signaling pathway, neurotrophin signaling pathways, and mTOR signaling pathway. Conclusion: The comparative study of gene expression profiling in glioblastomas between Uygur and Han nationalities revealed differentially expressed genes, whose functions and expression localization were analyzed by GO term analysis and KEGG pathway enrichment analysis. Different pathogenesis mechanisms were proposed for glioblastomas in Chinese patients of Uygur and Han nationalities from a molecular biology perspective. PMID:26309555

  14. Association Study Between SLC15A4 Polymorphisms and Haplotypes and Systemic Lupus Erythematosus in a Han Chinese Population

    PubMed Central

    Zhang, Mingwang; Chen, Fangru; Zhang, Dongmei

    2016-01-01

    Objective: The gene SLC15A4 (solute carrier family 15 [oligopeptide transporter], member 4) has been reported as contributing to the pathogenesis of systemic lupus erythematosus (SLE). We performed a case–control replication study to investigate further the association between single-nucleotide polymorphisms (SNPs) in the SLC15A4 gene and systemic SLE in a Han Chinese population. Methods: In Han Chinese SLE patients and healthy individuals (n = 355, 375, respectively), 18 SNPs in the SLC15A4 gene were genotyped using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry and TaqMan SNP genotyping assays. Analyses of allele frequencies and genotypes using codominant, dominant, and recessive models were conducted, as well as a linkage disequilibrium analysis. P values < 0.05 were considered significant. Results: Allele frequencies of five of the analyzed SNPs were significantly associated with SLE. Under a codominant model the genotype frequencies of rs3765108 AG and rs7308691 AT were significantly higher in the SLE group than the control group (p = 0.019, 0.049, respectively). Under a dominant model the rs1385374 (TT+CT) SNP carried a higher risk of SLE than (CC) (p = 0.042). One SLC15A4 haplotype (TA), which consists of 2 SNPs (rs959989 and rs983492), was associated with SLE (p = 0.024). Conclusion: Our study determined that five SNPs (rs959989, rs1385374, rs983492, rs12298615, and rs10847697) are associated with SLE. Thus, SLC15A4 may be important in the pathogenesis of SLE in Han Chinese patients. PMID:27362648

  15. Correlation between PPARg2 gene Pro12Ala polymorphism and cerebral infarction in an Inner Mongolian Han Chinese population.

    PubMed

    Li, X; Zhang, B L; Zhang, X G; Su, X L

    2016-06-20

    The variant of PPAR-g2 has been shown to promote the increase of carotid IMT in patients suffering from cerebral infarction and the Pro12Ala polymorphism in the peroxisome proliferator-activated receptorg2 (PPARg2) gene may be associated with cerebral infarction. However, due to the different genetic background, race, and regional variations of cerebral infarction patient, the results of investigations into this subject differ. The aim of this study was to investigate this polymorphism in relation to cerebral infarction among the Inner Mongolian Han Chinese population. A total of 574 Han Chinese individuals from Inner Mongolian were selected randomly, including 302 patients with cerebral infarction and 272 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism was used to determine genotypes of the PPARg2 Pro12Ala variant and results were confirmed by direct sequencing. Genotype frequencies were found to be 90.7 and 91.9% for P/P, 8.6 and 7.7% for P/A, and 0.7 and 0.4 for A/A in the cerebral infarction and control groups, respectively. No statistically significant differences in genotype distribution were observed between the two groups (P > 0.05). Moreover, PPARg2 Pro12Ala genotype was not significantly associated with altered fasting blood glucose, blood pressure, or serum lipid profiles. After adjustment for gender, body mass index, and smoking habit, logistic regression was used to analyze the relationship between the Pro12Ala polymorphism and cerebral infarction (odds ratio = 0.888, 95% confidence interval = 0.106-7.460, P > 0.05), revealing that this variant was not the main pathogenic factor involved. Therefore, the Pro12Ala mutation of PPARg2 may not be associated with cerebral infarction in the Inner Mongolian Han Chinese population.

  16. TOX and CDKN2A/B Gene Polymorphisms Are Associated with Type 2 Diabetes in Han Chinese.

    PubMed

    Wei, Fengjiang; Cai, Chunyou; Feng, Shuzhi; Lv, Jia; Li, Shen; Chang, Baocheng; Zhang, Hong; Shi, Wentao; Han, Hongling; Ling, Chao; Yu, Ping; Chen, Yongjun; Sun, Ning; Tian, Jianli; Jiao, Hongxiao; Yang, Fuhua; Li, Mingshan; Wang, Yuhua; Zou, Lei; Su, Long; Li, Jingbo; Li, Ran; Qiu, Huina; Shi, Jingmin; Liu, Shiying; Chang, Mingqin; Lin, Jingna; Chen, Liming; Li, Wei-Dong

    2015-07-03

    To study associations between type 2 diabetes (T2DM) candidate genes and microvascular complications of diabetes (MVCDs), we performed case-control association studies for both T2DM and MVCDs in Han Chinese subjects. We recruited 1,939 unrelated Han Chinese T2DM patients and 918 individuals with normal blood glucose levels as nondiabetic controls. Among T2DM patients, 1116 have MVCDs, 266 have a history of T2DM of >10 years but never developed MVCDs. Eighty-two single-nucleotide polymorphisms (SNPs) in 54 candidate genes were genotyped. Discrete association studies were performed by the PLINK program for T2DM and MVCDs. Significant associations were found among candidate gene SNPs and T2DM, including rs1526167 of the TOX gene (allele A, P = 2.85 × 10(-9), OR = 1.44). The SNP rs10811661 of the CDKN2A/B gene was also associated with T2DM (allele T, P = 4.09 × 10(-7), OR = 1.36). When we used control patients with >10 years of T2DM history without MVCD, we found that the G allele of SNP rs1526167 of the TOX gene was associated with MVCD (nominal P = 4.33 × 10(-4)). In our study, significant associations were found between TOX and CDKN2A/B gene SNPs and T2DM. The TOX polymorphism might account for the higher risk of T2DM and the lower risk of MVCDs in the Han Chinese population.

  17. Association of Apolipoprotein C3 Genetic Polymorphisms with the Risk of Ischemic Stroke in the Northern Chinese Han Population

    PubMed Central

    Wang, Yanzhe; Yin, Xiaoyu; Li, Lei; Deng, Shumin; He, Zhiyi

    2016-01-01

    The apolipoprotein C3 (APOC3) gene, which is a member of the APOA1/C3/A4/A5 gene cluster, plays a crucial role in lipid metabolism. Dyslipidemia is an important risk factor for ischemic stroke. In the present study, we performed a hospital-based case—control study of 895 ischemic stroke patients and 883 control subjects to examine the effects of four APOC3 single nucleotide polymorphisms (SNPs) (rs2854116, rs2854117, rs4520 and rs5128) on the risk of ischemic stroke in a northern Chinese Han population. The SNaPshot Multiplex sequencing assay was used for SNP genotyping, and the potential association of genotype distributions and allele frequencies with ischemic stroke was analyzed statistically. Compared with the GG genotype, the CC+GC genotype of rs5128 was significantly associated with an increased risk in females (adjusted OR = 3.38, 95% CI = 1.82–6.28, P <0.01) after all of the risk factors were adjusted for with logistic regression analyses. A similar relationship was found between the rs4520 polymorphism and ischemic stroke risk in Han Chinese women. Under a recessive genetic model, the TT+TC genotypes of this variant increased ischemic stroke risk (adjusted OR = 2.05; 95% CI = 1.28–3.29; P <0.01). Haplotype analysis revealed that in males, the T-C-T-C haplotype of rs2854116-rs2854117-rs4520-rs5128 was significantly more frequent in the ischemic stroke group than in the control group (OR = 1.49, 95% CI = 1.18–1.87, P<0.01). The results of our study indicate that the APOC3 polymorphisms contribute to ischemic stroke susceptibility in females in the northern Chinese Han population. PMID:27690381

  18. Tumor Necrosis Factor-alpha Induced Protein 3 Interacting Protein 1 Gene Polymorphisms and Pustular Psoriasis in Chinese Han Population

    PubMed Central

    Han, Jian-Wen; Wang, Yong; Alateng, Chulu; Li, Hong-Bin; Bai, Yun-Hua; Lyu, Xin-Xiang; Wu, Rina

    2016-01-01

    Background: Psoriasis is a common immune-mediated inflammatory dermatosis. Generalized pustular psoriasis (GPP) is the severe and rare type of psoriasis. The association between tumor necrosis factor-alpha induced protein 3 interacting protein 1 (TNIP1) gene and psoriasis was confirmed in people with multiple ethnicities. This study was to investigate the association between TNIP1 gene polymorphisms and pustular psoriasis in Chinese Han population. Methods: Seventy-three patients with GPP, 67 patients with palmoplantar pustulosis (PPP), and 476 healthy controls were collected from Chinese Han population. Six single nucleotide polymorphisms (SNPs) of the TNIP1 gene, namely rs3805435, rs3792798, rs3792797, rs869976, rs17728338, and rs999011 were genotyped by using polymerase chain reaction-ligase detection reaction. Statistical analyses were performed using the PLINK 1.07 package. Allele frequencies and genotyping frequencies for six SNPs were compared by using Chi-square test, odd ratio (OR) (including 95% confidence interval) were calculated. The haplotype analysis was conducted by Haploview software. Results: The frequencies of alleles of five SNPs were significantly different between the GPP group and the control group (P ≤ 7.22 × 10−3), especially in the GPP patients without psoriasis vulgaris (PsV). In the haplotype analysis, the most significantly different haplotype was H4: ACGAAC, with 13.1% frequency in the GPP group but only 3.4% in the control group (OR = 4.16, P = 4.459 × 10−7). However, no significant difference in the allele frequencies was found between the PPP group and control group for each of the six SNPs (P > 0.05). Conclusions: Polymorphisms in TNIP1 are associated with GPP in Chinese Han population. However, no association with PPP was found. These findings suggest that TNIP1 might be a susceptibility gene for GPP. PMID:27364786

  19. [Textual research on Han-Chinese formulae collected in Tubo medical manuscript unearthed in 'Bum-pa-Che Tower].

    PubMed

    Liu, Y H; Nong, H C

    2016-11-28

    A Tibetan manuscript with title of Sman-dpyad gces-pa grub-pa kun-'dus-pa in the Collection of Practiced Medical Quintessence, was found in the basement of a Buddhist tower named 'Bum-pa-che in Lhokha (Shannan), Tibet. It contains a purgative recipe of TCM with its title "Powder of Han Region" and several ingredients in Chinese transliteration. Based upon the rule of medieval Chinese system of pronunciation with reference of related texts and studies, a textual research identifies it as a kind of Maren (seed of Cannabis sativa L. ) wan in TCM. Although no identical formulae of its kind has been found in extant literature of TCM prior to the Song Dynasty(960 AD), yet its ingredients, pharmaceutical preparation and efficacy are very similar to the Modified maren wan, the variant formulae of Maren wan in Wai tai mi yao (Arcane Essentials from the Imperial Library) of the Tang Dynasty.

  20. Plasma Plasminogen Activator Inhibitor-1 Is Associated with End-Stage Proliferative Diabetic Retinopathy in the Northern Chinese Han Population

    PubMed Central

    Zhong, Ze-Long; Chen, Song

    2012-01-01

    Objective. To identify predictors of end-stage proliferative diabetic retinopathy (PDR) in a cohort of individuals with type 2 diabetes mellitus (T2DM) from the Northern Chinese Han population. Methods. We investigated characteristics of 153 consecutive diabetic patients with end-stage PDR (62 males, 91 females), 123 consecutive PDR patients without end-stage PDR (48 males, 75 females), and 151 normal subjects (63 males, 88 females). Only one eye of each patient or healthy subject was included in this study. Univariate logistic regression models and multivariate logistic regression models were constructed to evaluate the predictors of end-stage PDR. Results. In univariate analysis, systolic blood pressure, diastolic blood pressure, duration of diabetes, family history of T2DM, and plasminogen activator inhibitor-1 (PAI-1) were significently associated with end-stage PDR. After multivariate analysis, family history of T2DM, plasma PAI-1 levels, smoking, and duration of diabetes were four positive predictors associated with end-stage PDR. Conclusions. Higher plasma levels of PAI-1 were associated with end-stage PDR in the Northern Chinese Han population with T2DM. PMID:23304115

  1. Analysis of the genetic association between IL27 variants and coronary artery disease in a Chinese Han population

    PubMed Central

    Fan, Qian; Nie, Shaofang; Li, Sihui; Liao, Yuhua; Zhang, Hongsong; Zha, Lingfeng; Wang, Fan; Tang, Tingting; Xia, Ni; Xu, Chengqi; Wang, Pengyun; Xie, Tian; Xie, Jiangjiao; Lu, Qiulun; Li, Qingxian; Qian, Jin; Li, Bin; Wu, Gang; Wu, Yanxia; Yang, Yan; Wang, Qing K.; Tu, Xin; Cheng, Xiang

    2016-01-01

    Interleukin-27 (IL-27) is an important cytokine in inflammatory diseases, including coronary artery disease (CAD). To explore the precise role of IL-27 in CAD, we investigated the genetic association between IL27 and CAD in the GeneID Chinese Han population. A two-stage case control association analysis was performed for 3075 CAD cases and 2802 controls. Logistic regression analysis was used to adjust the traditional risk factors for CAD. Results showed that a promoter variant, rs153109, tended to be marginally associated with CAD in the discovery population (Padj = 0.028, OR = 1.27, 95%CI: 1.03–1.58). However, this association was not replicated in the validation stage (Padj = 0.559, OR = 1.04, 95%CI: 0.90–1.21). In addition, when we classified the combined population into two subgroups according to the age at disease onset or disease state, we again obtained no significant associations. Finally, we estimated the severity of coronary stenosis using the Gensini Scoring system and determined that the rs153109 genotypes were still not associated with the Gensini scores of the CAD patients. In conclusion, our study failed to find an association between common variants in the functional region of IL27 and CAD in a Chinese Han population, which indicated that IL-27 might only be an inflammatory marker during the development of CAD. PMID:27174010

  2. Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans.

    PubMed

    Pang, Xiuhong; Chai, Yongchuan; Sun, Lianhua; Chen, Dongye; Chen, Ying; Zhang, Zhihua; Wu, Hao; Yang, Tao

    2014-01-01

    Dominant mutations in GJB2 may lead to various degrees of sensorineural hearing impairment and/or hyperproliferative epidermal disorders. So far studies of dominant GJB2 mutations were mostly limited to case reports of individual patients and families. In this study, we identified 7 families, 11 subjects with dominant GJB2 mutations by sequencing of GJB2 in 2168 Chinese Han probands with sensorineural hearing impairment and characterized the associated spectrum, de novo rate and genotype-phenotype correlation. We identified p.R75Q, p.R75W and p.R184Q as the most frequent dominant GJB2 mutations among Chinese Hans, which had a very high de novo rate (71% of probands). A majority (10/11) of subjects carrying dominant GJB2 mutations exhibited palmoplantar keratoderma in addition to hearing impairment. In two families segregated with additional c.235delC or p.V37I mutations of GJB2, family members with the compound heterozygous mutations exhibited more severe phenotype than those with single dominant GJB2 mutation. Our study suggested that the high de novo mutation rate gives rise to a significant portion of dominant GJB2 mutations. The severity of the hearing and epidermal phenotypes associated with dominant GJB2 mutations may be modified by additional recessive mutations of GJB2.

  3. 11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project

    PubMed Central

    Cai, Na; Bigdeli, Tim B.; Kretzschmar, Warren W.; Li, Yihan; Liang, Jieqin; Hu, Jingchu; Peterson, Roseann E.; Bacanu, Silviu; Webb, Bradley Todd; Riley, Brien; Li, Qibin; Marchini, Jonathan; Mott, Richard; Kendler, Kenneth S.; Flint, Jonathan

    2017-01-01

    The China, Oxford and Virginia Commonwealth University Experimental Research on Genetic Epidemiology (CONVERGE) project on Major Depressive Disorder (MDD) sequenced 11,670 female Han Chinese at low-coverage (1.7X), providing the first large-scale whole genome sequencing resource representative of the largest ethnic group in the world. Samples are collected from 58 hospitals from 23 provinces around China. We are able to call 22 million high quality single nucleotide polymorphisms (SNP) from the nuclear genome, representing the largest SNP call set from an East Asian population to date. We use these variants for imputation of genotypes across all samples, and this has allowed us to perform a successful genome wide association study (GWAS) on MDD. The utility of these data can be extended to studies of genetic ancestry in the Han Chinese and evolutionary genetics when integrated with data from other populations. Molecular phenotypes, such as copy number variations and structural variations can be detected, quantified and analysed in similar ways. PMID:28195579

  4. Association and gene-gene interactions study of reelin signaling pathway related genes with autism in the Han Chinese population.

    PubMed

    Shen, Yidong; Xun, Guanglei; Guo, Hui; He, Yiqun; Ou, Jianjun; Dong, Huixi; Xia, Kun; Zhao, Jingping

    2016-04-01

    Autism is a neurodevelopmental disorder with unclear etiology. Reelin had been proposed to participate in the etiology of autism due to its important role in brain development. The goal of this study was to explore the association and gene-gene interactions of reelin signaling pathway related genes (RELN, VLDLR, LRP8, DAB1, FYN, and CDK5) with autism in Han Chinese population. Genotyping data of the six genes were obtained from a recent genome-wide association study performed in 430 autistic children who fulfilled the DSM-IV-TR criteria for autistic disorder, and 1,074 healthy controls. Single marker case-control association analysis and haplotype case-control association analysis were conducted after the data was screened. Multifactor dimensionality reduction (MDR) was applied to further test gene-gene interactions. Neither the single marker nor the haplotype association tests found any significant difference between the autistic group and the control group after permutation test of 1,000 rounds. The 4-locus MDR model (comprising rs6143734, rs1858782, rs634500, and rs1924267 which belong to RELN and DAB1) was determined to be the model with the highest cross-validation consistency (CVC) and testing balanced accuracy. The results indicate that an interaction between RELN and DAB1 may increase the risk of autism in the Han Chinese population. Furthermore, it can also be inferred that the involvement of RELN in the etiology of autism would occur through interaction with DAB1.

  5. Polymorphisms in protein disulfide isomerase are associated with sporadic amyotrophic lateral sclerosis in the Chinese Han population.

    PubMed

    Yang, Qin; Guo, Zhi-bao

    2016-01-01

    Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disease that targets the motor system; it is caused by the loss of motor neurons in the spinal cord, brain stem, and cerebral cortex. However, the etiology of ALS remains unknown, although genetic factors may play an important role in its development. The purpose of this study was to investigate the association between common polymorphisms in protein disulfide isomerase (PDI) with sporadic amyotrophic lateral sclerosis (SALS) in a Chinese Han population. Two single nucleotide polymorphisms (SNPs) in P4HB (rs876016 and rs2070872) were genotyped in 322 patients with SALS and 265 control subjects using polymerase chain reaction-restriction fragment length polymorphism. Our results showed that SNPs rs876016 and rs2070872 were significantly associated with ALS. The minor allele frequencies of rs876016 (C) and rs2070872 (G) were significantly higher in patients with sporadic ALS than in control subjects (P = 0.035 and 0.003, respectively). The genotype frequencies of rs876016 and rs2070872 were significantly different between SALS patients and control subjects (genotypic P < 0.001). Individuals carrying rs876016/ rs2070872 C/G genotypes were associated with a significantly increased risk of SALS. These results suggest that common variants in PDI might contribute to the development of SALS in the Chinese Han population.

  6. Epidemiology, species distribution, antifungal susceptibility, and ERG11 mutations of Candida species isolated from pregnant Chinese Han women.

    PubMed

    Yang, L; Su, M Q; Ma, Y Y; Xin, Y J; Han, R B; Zhang, R; Wen, J; Hao, X K

    2016-04-28

    The widespread use of antifungal agents has led to increasing azole resistance in Candida species. A major azole-resistance mechanism involves point mutations in the ERG11 gene, which encodes cytochrome P450 lanosterol 14a-demethylase. In this study, vaginal swabs were obtained from 657 pregnant Chinese Han women and cultured appropriately. The open reading frame of the obtained fungal species were amplified by PCR and sequenced; additionally, the ERG11 gene of the isolated Candida species was amplified and sequenced, and the antifungal susceptibility of the isolated species was determined. The vaginal swabs of 124 women produced fungal cultures; five species of Candida were isolated from the patients, among which Candida albicans was predominant. Twelve C. albicans isolates (13.8%) were resistant to fluconazole and 2 (2.2%) were resistant to itraconazole. Seventeen mutations, including 9 silent and 8 missense mutations, were identified in the ERG11 gene of 31 C. albicans isolates. Our findings suggest that infection caused by C. albicans and non-C. albicansis common in Chinese Han women of reproductive age. Moreover, the relationship between Candida infection and certain epidemiological factors emphasizes the need to educate women about the precise diagnosis and punctual treatment of vaginitis.

  7. Lack of Association between Genetic Polymorphisms of JAK-STAT Signaling Pathway Genes and Acute Anterior Uveitis in Han Chinese

    PubMed Central

    2016-01-01

    Purpose. This study aimed to investigate the association between single nucleotide polymorphisms (SNPs) of JAK-STAT signaling pathway genes and acute anterior uveitis (AAU) with or without ankylosing spondylitis (AS) in the Han Chinese population. Methods. Eleven SNPs of the JAK1, JAK2, STAT1, IRF1, and NOS2 genes were analyzed in 443 AAU patients with AS, 486 AAU patients without AS, and 714 healthy controls. Genotyping was performed by PCR-RFLP assay or TaqMan® probe assay. The Chi-squared (χ2) test and multivariate logistic regression analysis were used to compare the distributions of alleles and genotypes between patients and controls. P values were adjusted using Bonferroni correction. Results. We did not observe significant differences in the genotype and allele frequencies of any SNP between AAU patients with or without AS and healthy controls. Stratification analyses by gender and HLA-B27 status showed a boundary significant association between two SNPs (rs10975003 and rs10758669) in JAK2 and AAU (P = 0.052 and P = 0.053, resp.). Conclusions. Our results indicated that genetic polymorphisms of the JAK-STAT signaling pathway genes may not be associated with AAU in the Han Chinese population. PMID:27965977

  8. Association between rs11001553 of DKK1 and non-syndromic tooth agenesis in the Chinese Han population.

    PubMed

    Liu, H C; Zhang, J; Wong, S; Han, D; Zhao, H S; Feng, H L

    2014-04-03

    Tooth agenesis is one of the most common anomalies of human dentition. Recent genetic studies have provided information regarding a number of genes related to both syndromic and non-syndromic forms of hypodontia. In a previous study, we found that polymorphism in rs11001553 of DKK1 was associated with hypodontia in the Chinese Han population. In this study, we extended this investigation to 89 individuals diagnosed with sporadic non-syndromic oligodontia (40 males and 49 females). These individuals were analyzed with 268 subjects (123 males and 145 females) diagnosed with non-syndromic hypodontia and 190 healthy control subjects (99 males and 91 females). DNA was obtained from whole blood or saliva samples and genotyping was performed by matrix-assisted laser desorption ionization-time of flight mass spectrometry. Significant differences were observed in the allele and genotype frequencies of rs11001553 of DKK1. These data demonstrated an association between rs11001553 of DKK1, a tooth development-associated gene, and non-syndromic tooth agenesis in Chinese Han individuals. This information may provide further understanding of the molecular mechanisms of tooth agenesis. Furthermore, DKK1 can be regarded as a marker gene for the risk of tooth agenesis.

  9. Genetic polymorphism of interleukin-6 influences susceptibility to HBV-related hepatocellular carcinoma in a male Chinese Han population.

    PubMed

    Tang, Shengli; Yuan, Yufeng; He, Yueming; Pan, Dingyu; Zhang, Yongxi; Liu, Yuanyuan; Liu, Quanyan; Zhang, Zhonglin; Liu, Zhisu

    2014-04-01

    As a multifunctional cytokine, interleukin-6 (IL-6) plays a key role in chronic inflammation as well as tumor growth and progression of hepatitis B virus (HBV) infection. Recent studies have implicated that single nucleotide polymorphism (SNP) -572C>G (rs1800796) located within the promoter region of IL-6 gene was associated with susceptibility to several diseases. Here, a case-control study was undertaken to investigate the association between this polymorphism and HBV-related hepatocellular carcinoma (HCC) susceptibility in a Chinese Han population. A total of 900 patients with chronic HBV infection, including 505 HBV-related HCC patients and 395 HBV infected patients without HCC were enrolled, and rs1800796 polymorphism was genotyped by the TaqMan method and DNA sequencing technology. The results indicated no significant association between rs1800796 polymorphism and the risk of HBV-related HCC in all subjects; however, a significant difference was identified in male subjects. Under the dominant model, male subjects with the G allele (CG/GG) have higher susceptibility to HBV-related HCC than those with CC genotype after adjusting confounding factors (P=0.012, odds ratio [OR] 1.68, 95% confidence interval [95% CI] 1.15-2.42). Our results suggested that rs1800796 polymorphism of IL-6 gene was associated with susceptibility to HBV-related HCC in a male Chinese Han population.

  10. Association of BCL2-938C>A genetic polymorphism with glioma risk in Chinese Han population.

    PubMed

    Li, Wei; Qian, Chunfa; Wang, Linxiong; Teng, Hong; Zhang, Li

    2014-03-01

    Glioma is the most common type of primary brain malignancy in adults. The anti-apoptotic protein B-cell lymphoma 2 (BCL2) has been implicated in the pathogenesis of glioma. This study aimed to evaluate the potential association between BCL2-938C>A genetic polymorphism and glioma susceptibility. This case-control study was conducted in Chinese Han populations consisting of 248 glioma cases and 252 cancer-free controls. The BCL2-938C>A genetic polymorphism was detected by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and verified using DNA sequencing methods. Our data suggested that the genotype/allele of BCL2-938C>A polymorphism were statistically associated with the increased risk of glioma where the risk of glioma for genotype AA or allele A is significantly higher than wild genotype CC (odds ratio (OR) = 2.23, 95% confidence interval (CI) 1.21-4.10, p = 0.009) or allele C (OR = 1.39, 95% CI 1.06-1.82, p = 0.016), respectively. In addition, the BCL2-938AA genotype was significantly more common in patients with glioblastoma and in patients with grade IV glioma. Our findings indicate that the BCL2-938C>A polymorphism is associated with the susceptibility to glioma in Chinese Han populations and might be used as molecular markers for evaluating glioma risk.

  11. 11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project.

    PubMed

    Cai, Na; Bigdeli, Tim B; Kretzschmar, Warren W; Li, Yihan; Liang, Jieqin; Hu, Jingchu; Peterson, Roseann E; Bacanu, Silviu; Webb, Bradley Todd; Riley, Brien; Li, Qibin; Marchini, Jonathan; Mott, Richard; Kendler, Kenneth S; Flint, Jonathan

    2017-02-14

    The China, Oxford and Virginia Commonwealth University Experimental Research on Genetic Epidemiology (CONVERGE) project on Major Depressive Disorder (MDD) sequenced 11,670 female Han Chinese at low-coverage (1.7X), providing the first large-scale whole genome sequencing resource representative of the largest ethnic group in the world. Samples are collected from 58 hospitals from 23 provinces around China. We are able to call 22 million high quality single nucleotide polymorphisms (SNP) from the nuclear genome, representing the largest SNP call set from an East Asian population to date. We use these variants for imputation of genotypes across all samples, and this has allowed us to perform a successful genome wide association study (GWAS) on MDD. The utility of these data can be extended to studies of genetic ancestry in the Han Chinese and evolutionary genetics when integrated with data from other populations. Molecular phenotypes, such as copy number variations and structural variations can be detected, quantified and analysed in similar ways.

  12. Polymorphism of HDAC9 Gene Is Associated with Increased Risk of Acute Coronary Syndrome in Chinese Han Population.

    PubMed

    Han, Zhenhua; Dong, Xin; Zhang, Chaoying; Wu, Yue; Yuan, Zuyi; Wang, Xinhong

    2016-01-01

    Recent genome-wide association studies (GWAS) have indicated an association of histone deacetylase 9 (HDAC9) genetic variant with large-vessel stroke and coronary artery disease, among the European population. However, whether HDAC9 gene is associated with an increased susceptibility to acute coronary syndrome (ACS) in Chinese Han population is not known. A total of 472 patients, including patients with ACS (N = 309), and those with chest pain syndrome (controls, N = 163) were enrolled. Genotyping for HDAC9 gene was performed using the ligation detection reaction assay. A series of statistical analyses were performed to investigate the correlation between HDAC9 gene SNPs and the susceptibility to ACS. The results revealed a significant association of rs2240419 with ACS risk in which the A allele (P = 0.047) and the A allele carriers (AA + AG) (P = 0.037) were more likely to be in ACS group as compared to those in the control group. None of two other SNPs, rs2389995 and rs2107595, were significantly associated with ACS risk (P > 0.05). Logistic regression analyses further revealed an increased risk for ACS in A allele carrier among rs2240419 genotypes, as compared to those with GG homozygotes (odds ratio: 1.869, 95% CI 1.143, 3.056, P = 0.013). A significant correlation between rs2240419 polymorphism of HDAC9 gene and the susceptibility to ACS in Chinese Han population was observed in this study.

  13. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.

    PubMed

    Han, Jian-Wen; Zheng, Hou-Feng; Cui, Yong; Sun, Liang-Dan; Ye, Dong-Qing; Hu, Zhi; Xu, Jin-Hua; Cai, Zhi-Ming; Huang, Wei; Zhao, Guo-Ping; Xie, Hong-Fu; Fang, Hong; Lu, Qian-Jin; Xu, Jian-Hua; Li, Xiang-Pei; Pan, Yun-Feng; Deng, Dan-Qi; Zeng, Fan-Qin; Ye, Zhi-Zhong; Zhang, Xiao-Yan; Wang, Qing-Wen; Hao, Fei; Ma, Li; Zuo, Xian-Bo; Zhou, Fu-Sheng; Du, Wen-Hui; Cheng, Yi-Lin; Yang, Jian-Qiang; Shen, Song-Ke; Li, Jian; Sheng, Yu-Jun; Zuo, Xiao-Xia; Zhu, Wei-Fang; Gao, Fei; Zhang, Pei-Lian; Guo, Qing; Li, Bo; Gao, Min; Xiao, Feng-Li; Quan, Cheng; Zhang, Chi; Zhang, Zheng; Zhu, Kun-Ju; Li, Yang; Hu, Da-Yan; Lu, Wen-Sheng; Huang, Jian-Lin; Liu, Sheng-Xiu; Li, Hui; Ren, Yun-Qing; Wang, Zai-Xing; Yang, Chun-Jun; Wang, Pei-Guang; Zhou, Wen-Ming; Lv, Yong-Mei; Zhang, An-Ping; Zhang, Sheng-Quan; Lin, Da; Li, Yi; Low, Hui Qi; Shen, Min; Zhai, Zhi-Fang; Wang, Ying; Zhang, Feng-Yu; Yang, Sen; Liu, Jian-Jun; Zhang, Xue-Jun

    2009-11-01

    We performed a genome-wide association study (GWAS) of systemic lupus erythematosus (SLE) in a Chinese Han population by genotyping 1,047 cases and 1,205 controls using Illumina Human610-Quad BeadChips and replicating 78 SNPs in two additional cohorts (3,152 cases and 7,050 controls). We identified nine new susceptibility loci (ETS1, IKZF1, RASGRP3, SLC15A4, TNIP1, 7q11.23, 10q11.22, 11q23.3 and 16p11.2; 1.77 x 10(-25) < or = P(combined) < or = 2.77 x 10(-8)) and confirmed seven previously reported loci (BLK, IRF5, STAT4, TNFAIP3, TNFSF4, 6q21 and 22q11.21; 5.17 x 10(-42) < or = P(combined) < or = 5.18 x 10(-12)). Comparison with previous GWAS findings highlighted the genetic heterogeneity of SLE susceptibility between Chinese Han and European populations. This study not only advances our understanding of the genetic basis of SLE but also highlights the value of performing GWAS in diverse ancestral populations.

  14. Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome

    PubMed Central

    Sun, Lianhua; Li, Xiaohua; Shi, Jun; Pang, Xiuhong; Hu, Yechen; Wang, Xiaowen; Wu, Hao; Yang, Tao

    2016-01-01

    Waardenburg syndrome (WS) characterized by sensorineural hearing loss and pigmentary abnormalities is genetically heterogeneous and phenotypically variable. This study investigated the molecular etiology and genotype-phenotype correlation of WS in 36 Chinese Han deaf probands and 16 additional family members that were clinically diagnosed with WS type I (WS1, n = 8) and type II (WS2, n = 42). Mutation screening of six WS-associated genes detected PAX3 mutations in 6 (86%) of the 7 WS1 probands. Among the 29 WS2 probands, 13 (45%) and 10 (34%) were identified with SOX10 and MITF mutations, respectively. Nineteen of the 26 detected mutations were novel. In WS2 probands whose parental DNA samples were available, de novo mutations were frequently seen for SOX10 mutations (7/8) but not for MITF mutations (0/5, P = 0.005). Excessive freckle, a common feature of WS2 in Chinese Hans, was frequent in WS2 probands with MITF mutations (7/10) but not in those with SOX10 mutations (0/13, P = 4.9 × 10−4). Our results showed that mutations in SOX10 and MITF are two major causes for deafness associated with WS2. These two subtypes of WS2 can be distinguished by the high de novo rate of the SOX10 mutations and the excessive freckle phenotype exclusively associated with the MITF mutations. PMID:27759048

  15. Association of GDF5, SMAD3 and RUNX2 polymorphisms with temporomandibular joint osteoarthritis in female Han Chinese.

    PubMed

    Xiao, J-L; Meng, J-H; Gan, Y-H; Zhou, C-Y; Ma, X-C

    2015-07-01

    Temporomandibular joint osteoarthritis (TMJOA) is a complex disease and has a strong genetic component in its pathogenesis. Experimental evidence suggests the involvement of biological pathway in the disease. This case-control study was designed to investigate whether five common single nucleotide polymorphisms (SNPs) in GDF5, SMAD3, RUNX2, TGFβ1 and CHST11, respectively, are associated with TMJOA in female Han Chinese patients. A total of 240 participants were evaluated comprising 114 female patients diagnosed with TMJOA based on Research Diagnostic Criteria for Temporomandibular Disorders and 126 healthy female controls. The SNPs of the five genes in the genomic DNA were examined by sequencing, and their allelic, genotypic and carriage rate frequency distributions, as well as the triple combination of the risk genotypes, were analysed using the logistic regression model. The SNP in GDF5 or SMAD3 showed significant association with TMJOA, a relatively weak association was observed in RUNX2. In the triple combinational analysis, the risk of TMJOA grew 5·09 times in the patients with five or six risk alleles (P < 0·01). This is the first study to evaluate the association of GDF5, SMAD3, RUNX2, TGFβ1 and CHST11 with TMJOA in female Han Chinese. Our study suggests that the SNPs of genes related to TGFβ family might contribute to the risk of TMJOA.

  16. The CRHR1 gene contributes to genetic susceptibility of aggressive behavior towards others in Chinese southwest Han population.

    PubMed

    Chen, Bifeng; Gu, Tao; Ma, Bo; Zheng, Guoqing; Ke, Bingxiong; Zhang, Xiufeng; Zhang, Lirui; Wang, Yuanyuan; Hu, Liping; Chen, Yang; Qiu, Jianbo; Nie, Shengjie

    2014-04-01

    Accumulating evidence suggests that the hypothalamic-pituitary-adrenal (HPA) axis might play a major role in genetic susceptibility of aggressive behavior. The aim of the present study is to investigate the association between corticotrophin-releasing hormone receptor 1 (CRHR1) gene and aggressive behavior in Chinese southwest Han population. Participants consist of 282 healthy controls and 177 violent criminals (including robbery and intentional injury, which represent for aggressive behavior towards property and aggressive behavior towards others). Three tag single nucleotide polymorphisms (SNPs) of CRHR1 gene including rs4458044, rs242924, and rs1768996 were genotyped using improved multiplex ligase detection reaction (iMLDR) methods. Single-locus analysis revealed that none of the studied SNPs was significantly associated with the risk of aggressive behavior; however, haplotype analysis showed that a haplotype GGA significantly increased the susceptibility of aggressive behavior towards others with an odds ratios equal to 3.32 (p = 0.003). The present results, for the first time, indicate that the CRHR1 gene polymorphism is significantly associated with aggressive behavior in Chinese southwest Han population. Subjects with GGA haplotype have an increased susceptibility to aggressive behavior towards others.

  17. Genetic variants in the acylphosphatase 2 gene and the risk of breast cancer in a Han Chinese population

    PubMed Central

    Deng, Zhiping; Xu, Pengcheng; Zhang, Xiyang; Jin, Tianbo; Liu, Qiufang

    2016-01-01

    We performed a case-control study to investigate the associations between seven single nucleotide polymorphisms (SNPs) in the acylphosphatase 2 (ACYP2) gene and breast cancer (BC) risk in a Han Chinese population. There were 183 BC cases and 195 healthy controls included in the study. The SNPs were genotyped using the Sequenom MassARRAY platform. Logistic regression (adjusted for age group, body mass index [BMI], and menopause status), was used to evaluate the associations between the various genotypes and BC risk. Statistical analysis revealed that rs12621038 was associated with a decreased risk of BC in the allele (T vs. C: odds ratio [OR] = 0.71, 95% confidence interval [95% CI] = 0.52–0.94; p = 0.016), homozygous (TT vs. CC: OR = 0.47, 95% CI = 0.24–0.85; p = 0.014), dominant (OR = 0.62; 95% CI = 0.40−0.96; p = 0.032), and additive (OR = 0.68; 95% CI = 0.50–0.92; p = 0.012) models. In addition, we found that rs1682111 and rs17045754 were associated with the risk of BC and correlated with recurrence, and that rs6713088 correlated with tumor size. In sum, our findings reveal significant associations between SNPs in the ACYP2 gene and BC risk in a Han Chinese population. PMID:27894080

  18. Association between single nucleotide polymorphisms in the TSPYL6 gene and breast cancer susceptibility in the Han Chinese population

    PubMed Central

    Guo, Wen; Zhang, Xiyang; Chen, Zhengshuai; Li, Jingjie; Yan, Mengdan; Chen, Chao; Jin, Tianbo

    2016-01-01

    We investigated the associations between single nucleotide polymorphisms (SNPs) in the testis-specific Y-encoded-like protein 6 (TSPYL6) gene and breast cancer (BC) susceptibility in the Han Chinese population. A total of 183 BC patients and 195 healthy women were included in the study. Six SNPs in TSPYL6 were genotyped and the association with BC risk analyzed. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using unconditional logistic regression analysis. Multivariate logistic regression analysis was used to identify SNPs that correlated with BC susceptibility. Rs11896604 was associated with a decreased risk of BC based on dominant and genotype models. Rs843706 was associated with an increased risk of BC based on a recessive model. Rs11125529 was associated with decreased BC susceptibility based on a genotype model. Finally, rs843711 inversely correlated with clinical stage III/IV BC. Our findings reveal a significant association between SNPs in the TSPYL6 gene and BC risk in a Han Chinese population. PMID:27458158

  19. Genetic Variants in PNPLA3 and Risk of Non-Alcoholic Fatty Liver Disease in a Han Chinese Population

    PubMed Central

    Lin, Shao-Wei; Lu, Qing-Qing; Hu, Zhi-Jian; Lin, Xu

    2012-01-01

    We investigated the possible association between genetic variants in the Patatin like phospholipase-3 (PNPLA3) gene and nonalcoholic fatty liver disease (NAFLD) in a Han Chinese population. We evaluated twelve tagging single-nucleotide polymorphisms (tSNPs) of the PNPLA3 gene in a frequency matched case–control study from Fuzhou city of China (553 cases, 553 controls). In the multivariate logistic regression analysis, the rs738409 GG or GC, and rs139051 TT genotypes were found to be associated with increased risk of NAFLD, and a significant trend of increased risk with increasing numbers of risk genotype was observed in the cumulative effect analysis of these single nucleotide polymorphisms. Furthermore, haplotype association analysis showed that, compared with the most common haplotype, the CAAGAATGCGTG and CGAAGGTGTCCG haplotypes conferred a statistically significant increased risk for NAFLD, while the CGGGAACCCGCG haplotype decreased the risk of NAFLD. Moreover, rs738409 C>G appeared to have a multiplicative joint effect with tea drinking (P<0.005) and an additive joint effect with obesity (Interaction contrast ratio (ICR) = 2.31, 95% CI: 0.7–8.86), hypertriglyceridemia (ICR = 3.07, 95% CI: 0.98–5.09) or hypertension (ICR = 1.74, 95% CI: 0.52–3.12). Our data suggests that PNPLA3 genetic polymorphisms might influence the susceptibility to NAFLD development independently or jointly in Han Chinese. PMID:23226254

  20. Genetic variants in the ZNF208 gene are associated with esophageal cancer in a Chinese Han population

    PubMed Central

    Wang, Huijie; Yu, Jianzhong; Guo, Yanling; Zhang, Zhengxing; Liu, Guoqi; Li, Jingjie; Zhang, Xiyang; Jin, Tianbo; Wang, Zhaoxia

    2016-01-01

    Previous studies showed an association between the ZNF208 gene and gastric cancer. In this study, we investigated the association between single nucleotide polymorphisms (SNPs) in ZNF208 and the risk of esophageal cancer in a Chinese Han population. We conducted a case-control study that included 386 cases and 495 controls. Five SNPs were selected from previous genome-wide association studies and genotyped using the Sequenom MassARRAY platform. Unconditional logistic regression was used to calculate odds ratios and 95% confidence intervals after adjustment for age and gender. Logistic regressionl analysis showed that two SNPs (rs8103163 and rs7248488) were associated with an increased risk of esophageal cancer under different inheritance models after Bonferroni correction. Haplotype analysis suggested that the four variants comprised one block, and that the Grs2188972Crs2188971Crs8103163Crs7248488 haplotype was significantly correlated with an increased risk of esophageal cancer. Our data indicate that variants in ZNF208 are contribute to the susceptibility to esophageal cancer in a Chinese Han population. PMID:27907911

  1. Endochondral ossification pathway genes and postmenopausal osteoporosis: Association and specific allele related serum bone sialoprotein levels in Han Chinese.

    PubMed

    Zhang, Yunzhi; Liu, Haiyan; Zhang, Chen; Zhang, Tianxiao; Zhang, Bo; Li, Lu; Chen, Gang; Fu, Dongke; Wang, KunZheng

    2015-11-16

    Osteoporosis is a systemic skeletal disorder characterized by reduced bone mineral density (BMD) and disrupted bone architecture, predisposing the patient to increased fracture risk. Evidence from early genetic epidemiological studies has indicated a major role for genetics in the development of osteoporosis and the variation in BMD. In this study, we focused on two key genes in the endochondral ossification pathway, IBSP and PTHLH. Over 9,000 postmenopausal Han Chinese women were recruited, and 54 SNPs were genotyped. Two significant SNPs within IBSP, rs1054627 and rs17013181, were associated with BMD and postmenopausal osteoporosis by the two-stage strategy, and rs17013181 was also significantly associated with serum IBSP levels. Moreover, one haplotype (rs12425376-rs10843047-rs42294) covering the 5' end of PTHLH was associated with postmenopausal osteoporosis. Our results provide evidence for the association of these two key endochondral ossification pathway genes with BMD and osteoporosis in postmenopausal Han Chinese women. Combined with previous findings, we provide evidence that a particular SNP in IBSP has an allele-specific effect on mRNA levels, which would, in turn, reflect serum IBSP levels.

  2. Non-SMC condensin I complex, subunit D2 gene polymorphisms are associated with Parkinson's disease: a Han Chinese study.

    PubMed

    Zhang, Ping; Liu, Ling; Huang, Jinsha; Shao, Liang; Wang, Hongcai; Xiong, Nian; Wang, Tao

    2014-05-01

    Previous studies have indicated that non-SMC condensin I complex, subunit D2 (NCAPD2), an important protein in chromosome condensation, gene polymorphisms are associated with Alzheimer's disease. But no study has shown the relationship between NCAPD2 polymorphisms and Parkinson's disease. Here, we conducted a case-control study to investigate the relationship between NCAPD2 polymorphisms and the risk of Parkinson's disease in a Han Chinese population. Two single nuclear polymorphisms (SNPs) of NCAPD2 (rs7311174 and rs2072374) showed significant p values (p = 0.046 and p = 0.043, respectively) in 265 patients and 267 controls. Further analysis showed an effect of age and gender on the relationship between the two SNPs and the risk for Parkinson's disease. The A allele of rs7311174 and the T allele of rs2072374 were protective in the male patients (p = 0.016 and p = 0.019, respectively). The frequencies of the T allele of rs7311174 and the C allele of rs2072374 were significantly associated with late-onset Parkinson's disease (p = 0.048 and p = 0.044, respectively). This research demonstrates a positive relationship between the NCAPD2 gene and the risk for Parkinson's disease in a Han Chinese population and provides a potential genetic marker for sporadic Parkinson's disease.

  3. [Frequency and linkage disequilibrium of specific HLA-DR and HLA-DQ genes in Chinese Han population].

    PubMed

    Yang, Su-Xia; Hu, Zhi-Fei; Zu, Qiang; Lu, Jin-Shan; Zhang, Xu; Dong, Jun

    2012-12-01

    This study was aimed to investigate the distribution feature of HLA-DR/DQ gene linkage disequilibrium in Chinese Han population and to improve the accuracy of HLA matching results. Genotyping of HLA-DR and HLA-DQ gene locus was performed using PCR-SSP typing in Chinese Han population receiving kidney transplantation. The results showed that there were 29 new linkage combinations in 1799 patients, in which DR13-DQ5, DR11-DQ8 and DR8-DQ8 were discovered for 11, 8 and 7 times respectively while DR9-DQ8, DR12-DQ6 and DR14-DQ4 were both discovered for 6 times. The linkage disequilibrium parameters of these haplotypes were negative, showing that these linkages were uncommon. It is concluded that this study not only enriches the classical HLA-DR/DQ linkage combinations, but also indicates the national relevance of combination distribution, and it has great importance in improving the accuracy of HLA matching experiments and reducing unnecessary repeated work.

  4. 5-HTTLPR Polymorphism Impacts Task-Evoked and Resting-State Activities of the Amygdala in Han Chinese

    PubMed Central

    Li, Sufang; Zou, Qihong; Li, Jun; Li, Jin; Wang, Deyi; Yan, Chaogan; Dong, Qi; Zang, Yu-Feng

    2012-01-01

    Background Prior research has shown that the amygdala of carriers of the short allele (s) of the serotonin transporter (5-HTT) gene (5-HTTLPR) have a larger response to negative emotional stimuli and higher spontaneous activity during the resting state than non-carriers. However, recent studies have suggested that the effects of 5-HTTLPR may be specific to different ethnic groups. Few studies have been conducted to address this issue. Methodology/Principal Findings Blood oxygenation level dependent (BOLD) functional magnetic resonance imaging (fMRI) was conducted on thirty-eight healthy Han Chinese subjects (l/l group, n = 19; s/s group, n = 19) during the resting state and during an emotional processing task. Compared with the s/s group, the l/l group showed significantly increased regional homogeneity or local synchronization in the right amygdala during the resting state (|t|>2.028, p<0.05, corrected), but no significant difference was found in the bilateral amygdala in response to negative stimuli in the emotional processing task. Conclusions/Significance 5-HTTLPR can alter the spontaneous activity of the amygdala in Han Chinese. However, the effect of 5-HTTLPR on the amygdala both in task state and resting state in Asian population was no similar with Caucasians. They suggest that the effect of 5-HTTLPR on the amygdala may be modulated by ethnic differences. PMID:22574175

  5. The norepinephrine transporter gene is associated with the retardation symptoms of major depressive disorder in the Han Chinese population.

    PubMed

    Li, Xinrong; Sun, Ning; Xu, Yong; Wang, Yanfang; Li, Suping; Du, Qiaorong; Peng, Juyi; Luo, Jinxiu; Zhang, Kerang

    2012-09-05

    The norepinephrine transporter plays an important role in the pathophysiology and pharmacological treatment of major depressive disorder. Consequently, the norepinephrine transporter gene is an attractive candidate in major depressive disorder research. In the present study, we evaluated the depression symptoms of subjects with major depressive disorder, who were all from the North of China and of Han Chinese origin, using the Hamilton Depression Scale. We examined the relationship between two single nucleotide polymorphisms in the norepinephrine transporter, rs2242446 and rs5569, and the retardation symptoms of major depressive disorder using quantitative trait testing with the UNPHASED program. rs5569 was associated with depressed mood, and the GG genotype may be a risk factor for this; rs2242446 was associated with work and interest, and the TT genotype may be a risk factor for loss of interest. Our findings suggest that rs2242446 and rs5569 in the norepinephrine transporter gene are associated with the retardation symptoms of depression in the Han Chinese population.

  6. Association and meta-analysis of HLA and non-obstructive azoospermia in the Han Chinese population.

    PubMed

    Zou, S; Song, P; Meng, H; Chen, T; Chen, J; Wen, Z; Li, Z; Li, Z; Shi, Y; Hu, H

    2017-03-01

    The exact aetiology and pathogenesis of most non-obstructive azoospermia (NOA) are still unknown. The previous two genomewide association studies (GWASs) have identified three different loci within the HLA region for NOA in the Han Chinese population, including rs3129878, rs498422 and rs7194. To further validate the risk of three GWAS-linked loci for NOA, we conducted a case-control study of these three risk loci in an independent Han Chinese male population, with 603 NOA patients and 610 controls. Furthermore, we also performed a meta-analysis of five studies on these three NOA-risk loci. The case-control study strongly suggested a significant association between loci rs3129878, rs498422 and rs7194 and NOA (P = 6.75 × 10(-21) (OR = 2.2586), P = 0.0060 (OR = 1.4013) and P = 0.0128 (OR = 1.2626) respectively). Our meta-analyses also supported the susceptibility of these three risk loci to NOA (P < 0.01). The risk variants within the HLA region potentially have a strong effect on males at risk of NOA, and may serve as diagnostic markers for male infertility. However, considering genetic difference between different populations, future validating studies in larger independent samples and animal experiments are suggested.

  7. Quantitative Analysis of Intestinal Flora of Uygur and Han Ethnic Chinese Patients with Ulcerative Colitis.

    PubMed

    Yao, Ping; Cui, Min; Wang, Haikun; Gao, Hongliang; Wang, Lei; Yang, Tao; Cheng, Yongbo

    2016-01-01

    Aim. To study the correlation between intestinal flora and ulcerative colitis by analyzing the abundance of Bacteroides, Fusobacterium, Clostridium, Bifidobacterium spp., and Faecalibacterium prausnitzii in the intestinal of ulcerative colitis (UC) patients and healthy controls with Uygur and Han ethnic. Methods. Bacterial genomic DNA was extracted from fecal samples and analyzed with real-time fluorescence quantitative polymerase chain reaction (PCR) to identify the abundance of Bacteroides, Fusobacterium, Clostridium, Bifidobacterium spp., and Faecalibacterium prausnitzii. Results. The samples from UC patients, Uygur and Han ethnic combined, had higher abundance of Bacteroides (P = 0.026) but lower Clostridium (P = 0.004), Bifidobacterium spp. (P = 0.009), and Faecalibacterium prausnitzii (P = 0.008) than those from healthy controls. Among UC patients, Bacteroides population was raised in acute UC patients (P ≤ 0.05), while the abundance of Clostridium, Bifidobacterium spp., Fusobacterium, and Faecalibacterium prausnitzii decreased (P ≤ 0.05) compared with the remission. In both UC patients group and control group, no difference was observed in the abundance of these 5 bacteria between the Han and the Uygur group. Conclusions. Variations in the abundance of these five bacterial strains in intestines may be associated with the occurrence of UC in Uygur and Han populations; however, these variations were not associated with ethnic difference.

  8. Quantitative Analysis of Intestinal Flora of Uygur and Han Ethnic Chinese Patients with Ulcerative Colitis

    PubMed Central

    Yao, Ping; Cui, Min; Wang, Haikun; Gao, Hongliang; Wang, Lei; Yang, Tao; Cheng, Yongbo

    2016-01-01

    Aim. To study the correlation between intestinal flora and ulcerative colitis by analyzing the abundance of Bacteroides, Fusobacterium, Clostridium, Bifidobacterium spp., and Faecalibacterium prausnitzii in the intestinal of ulcerative colitis (UC) patients and healthy controls with Uygur and Han ethnic. Methods. Bacterial genomic DNA was extracted from fecal samples and analyzed with real-time fluorescence quantitative polymerase chain reaction (PCR) to identify the abundance of Bacteroides, Fusobacterium, Clostridium, Bifidobacterium spp., and Faecalibacterium prausnitzii. Results. The samples from UC patients, Uygur and Han ethnic combined, had higher abundance of Bacteroides (P = 0.026) but lower Clostridium (P = 0.004), Bifidobacterium spp. (P = 0.009), and Faecalibacterium prausnitzii (P = 0.008) than those from healthy controls. Among UC patients, Bacteroides population was raised in acute UC patients (P ≤ 0.05), while the abundance of Clostridium, Bifidobacterium spp., Fusobacterium, and Faecalibacterium prausnitzii decreased (P ≤ 0.05) compared with the remission. In both UC patients group and control group, no difference was observed in the abundance of these 5 bacteria between the Han and the Uygur group. Conclusions. Variations in the abundance of these five bacterial strains in intestines may be associated with the occurrence of UC in Uygur and Han populations; however, these variations were not associated with ethnic difference. PMID:26839545

  9. Genetic association of ACSM1 variation with schizophrenia and major depressive disorder in the Han Chinese population.

    PubMed

    Li, Wenjin; Ji, Weidong; Li, Zhiqiang; He, Kuanjun; Wang, Qingzhong; Chen, Jianhua; Qiang, Yu; Feng, Guoyin; Li, Xingwang; Shen, Jiawei; Wen, Zujia; Ji, Jue; Shi, Yongyong

    2015-03-01

    Schizophrenia (SCZ) and major depressive disorder (MDD) are two of the most common and severe mental disorders, the etiologies of which are not yet clearly elucidated. The ACSM1 gene has been identified as a susceptibility gene for SCZ in two previous genome-wide association studies (GWAS). ACSM1 catalyzes the activation of fatty acids and plays an important role in the metabolic system. Some evidence has suggested that ACSM1 contributes to a genetic risk for MDD. The present study aimed to evaluate the common genetic risk of the ACSM1 gene in these two disorders in the Han Chinese population. In total, 1235 patients with SCZ, 1045 patients with MDD and 1235 control subjects of Chinese origin were recruited. Six single nuclear polymorphisms (SNPs) in ACSM1 were genotyped to test their associations with SCZ and MDD. SNP rs163234 was found to be significantly associated with both SCZ (permutated Pallele=1.700×10(-3), OR=1.350 [95% CI=1.152-1.581]) and MDD (permutated Pallele=4.800×10(-3), OR=1.329 [95% CI=1.127-1.567]). SNP rs433598 showed a strong association with SCZ (permutated Pallele=4.300×10(-3), OR=1.303 [95% CI=1.117-1.520]). Haplotype analysis of the blocks containing the two positive markers also revealed a significant association. This is the first study to assess the possible association of the ACSM1 gene with a genetic susceptibility for MDD. Our data are the first to suggest a positive association of the ACSM1 gene with a genetic susceptibility for SCZ and MDD in the Han Chinese population.

  10. Angiogenin gene polymorphism: A risk factor for diabetic peripheral neuropathy in the northern Chinese Han population.

    PubMed

    Wang, Hongli; Fan, Dongsheng; Zhang, Yingshuang

    2013-12-25

    Angiogenin is associated with the pathogenesis of diabetic peripheral neuropathy. Here, we quenced the coding region of the angiogenin gene in genomic DNA from 207 patients with type 2 diabetes mellitus (129 diabetic peripheral neuropathy patients and 78 diabetic non-neuropathy patients) and 268 healthy controls. All subjects were from the Han population of northern China. No mutations were found. We then compared the genotype and allele frequencies of the angiogenin synonymous single nucleotide polymorphism rs11701 between the diabetic peripheral neuropathy patients and controls, and between the diabetic neuropathy and non-neuropathy patients, using a case-control design. We detected no statistically significant genetic associations. Angiogenin may not be associated with genetic susceptibility to diabetic peripheral neuropathy in the Han population of northern China.

  11. Significant Association Between CAV1 Variant rs3807989 on 7p31 and Atrial Fibrillation in a Chinese Han Population

    PubMed Central

    Chen, Shanshan; Wang, Chuchu; Wang, Xiaojing; Xu, Chengqi; Wu, Manman; Wang, Pengxia; Tu, Xin; Wang, Qing K

    2015-01-01

    Background Recent genome-wide association studies (GWAS) in European ancestry populations revealed several genomic loci for atrial fibrillation (AF). We previously replicated the 4q25 locus (PITX2) and 16q22 locus (ZFHX3) in the Chinese population, but not the KCNN3 locus on 1q21. With single-nucleotide polymorphism rs3807989 in CAV1 encoding caveolin-1, however, controversial results were reported in 2 Chinese replication studies. Methods and Results Six remaining AF genetic loci from GWAS, including rs3807989/CAV1, rs593479/PRRX1, rs6479562/C9orf3, rs10824026/SYNPO2L, rs1152591/SYNE2, and rs7164883/HCN4, were analyzed in a Chinese Han population with 941 cases and 562 controls. Only rs3807989 showed significant association with AF (Padj=4.77×10−5), and the finding was replicated in 2 other independent populations with 709 cases and 2175 controls, 463 cases and 644 controls, and the combined population with a total of 2113 cases and 3381 controls (Padj=2.20×10−9; odds ratio [OR]=1.34 for major allele G). Meta-analysis, together with data from previous reports in Chinese and Japanese populations, also showed a significant association between rs3807989 and AF (P=3.40×10−4; OR=1.24 for allele G). We also found that rs3807989 showed a significant association with lone AF in 3 independent populations and in the combined population (Padj=3.85×10−8; OR=1.43 for major allele G). Conclusions The data in this study revealed a significant association between rs3807989 and AF in the Chinese Han population. Together with the findings that caveolin-1 interacts with potassium channels Kir2.1, KCNH2, and HCN4 and sodium channels Nav1.5 and Nav1.8, CAV1 becomes a strong candidate susceptibility gene for AF across different ethnic populations. This study is the first to show a significant association between rs3807989 and lone AF. PMID:25953654

  12. Catechol-O-methyltransferase polymorphisms do not play a significant role in pain perception in male Chinese Han population.

    PubMed

    Xiang, Xiaohui; Jiang, Yin; Ni, Yanjun; Fan, Min; Shen, Fang; Wang, Xuewei; Han, Jisheng; Cui, Cailian

    2012-03-01

    Polymorphisms in the human catechol-O-methyltransferase (COMT) gene have been widely studied for their role in pain and analgesia. In this study, sensitivity to potassium iontophoresis, visual analog scale measurements for fixed twofold pain threshold stimulation and pain threshold changes induced by transcutaneous electrical acupoint stimulation (TEAS) were assessed in a population of healthy Chinese males. These results were correlated with the alleles of six single nucleotide polymorphisms (SNP) or diplotypes of common haplotypes designated as low pain sensitive, average pain sensitive, and high pain sensitive in the COMT gene of these subjects. Our results reveal that the alleles of each SNP are not significantly correlated with pain perception except for the rs4633 allele in the 2 Hz TEAS session (P < 0.05). In addition, the six diplotypes of COMT haplotypes, which cover 92.5% of the Chinese population, are also not correlated with pain perception. Moreover, there were no significant differences in pain threshold changes induced by 2 and 100 Hz TEAS among the diplotypes of each SNP or the various haplotypes. These results suggest that COMT activity do not play a significant role in pain perception and TEAS-induced analgesia in the Chinese Han male population.

  13. The genetic contribution of CIDEA polymorphisms, haplotypes and loci interaction to obesity in a Han Chinese population.

    PubMed

    Wu, Jingjing; Zhang, Ling; Zhang, Jie; Dai, Ying; Bian, Lili; Song, Manshu; Russell, Alyce; Wang, Wei

    2013-10-01

    To investigate the association of tag-SNPs and haplotype structures of the CIDEA gene with obesity in a Han Chinese population. Five single nucleotide polymorphisms (SNPs) (rs1154588/V115F, rs4796955/SNP1, rs8092502/SNP2, rs12962340/SNP3 and rs7230480/SNP4) in the CIDEA gene were genotyped in a case-control study. Genotyping was performed using the sequenom matrix-assisted laser desorption/ionization time-of-flight mass spectrometry iPLEX platform. There were significant differences between the obese and control groups in genotype distributions of V115F (P < 0.001), SNP1 (P = 0.006) and SNP2 (P = 0.005). Carriers of V115F-TT, SNP1-GG and SNP2-CC genotypes had a 2.84-fold (95 % CI 1.73-4.66), 2.19-fold (95 % CI 1.09-4.38) and 4.37-fold (95 % CI 1.21-15.08) increased risk for obesity, respectively. Haplotype analysis showed that GTTC (SNP1/SNP2/V115F/SNP4) had 1.41-fold (95 % CI 1.02-1.95) increased risk for obesity; whereas, haplotype TTGC had 0.48-fold (95 % CI 0.24-0.96) decreased risk for obesity. Using the multifactor dimensionality reduction method, the best model including SNP1, SNP2, V115F and SNP4 polymorphisms was identified with a maximum testing accuracy to 59.32 % and a perfect cross-validation consistency of 10/10 (P = 0.011). Logistic analysis indicated that there was a significant interaction between SNP1 and V115F associated with obesity. Subjects having both genotypes of SNP1/GG and V115F/TT were more susceptible to obesity in the Han Chinese population (OR 2.66, 95 %: 1.22-5.80). Genotypes of V115F/TT, SNP1/GG and SNP2/CC and haplotype GTTC of CIDEA gene were identified as risk factors for obesity in the Han Chinese population. The interaction between SNP1 and V115F could play a joint role in the development of obesity.

  14. Genetic Polymorphisms in CYP2E1: Association with Schizophrenia Susceptibility and Risperidone Response in the Chinese Han Population

    PubMed Central

    Wei, Zhiyun; Shen, Lu; Xiong, Yuyu; Wu, Xi; Niu, Jiamin; Han, Xia; Tian, Zhengan; Yang, Lun; Feng, Guoyin; He, Lin; Qin, Shengying

    2012-01-01

    Background CYP2E1 is a member of the cytochrome P450 superfamily, which is involved in the metabolism and activation of both endobiotics and xenobiotics. The genetic polymorphisms of CYP2E1 gene (Chromosome 10q26.3, Accession Number NC_000010.10) are reported to be related to the development of several mental diseases and to be involved in the clinical efficacy of some psychiatric medications. We investigated the possible association of CYP2E1 polymorphisms with susceptibility to schizophrenia in the Chinese Han Population as well as the relationship with response to risperidone in schizophrenia patients. Methods In a case-control study, we identified 11 polymorphisms in the 5' flanking region of CYP2E1 in 228 schizophrenia patients and 384 healthy controls of Chinese Han origin. From among the cases, we chose 130 patients who had undergone 8 weeks of risperidone monotherapy to examine the relationship between their response to risperidone and CYP2E1 polymorphisms. Clinical efficacy was assessed using the Brief Psychiatric Rating Scale (BPRS). Results Statistically significant differences in allele or genotype frequencies were found between cases and controls at rs8192766 (genotype p = 0.0048, permutation p = 0.0483) and rs2070673 (allele: p = 0.0018, permutation p = 0.0199, OR = 1.4528 95%CI = 1.1487–1.8374; genotype: p = 0.0020, permutation p = 0.0225). In addition, a GTCAC haplotype containing 5 SNPs (rs3813867, rs2031920, rs2031921, rs3813870 and rs2031922) was observed to be significantly associated with schizophrenia (p = 7.47E-12, permutation p<0.0001). However, no association was found between CYP2E1 polymorphisms/haplotypes and risperidone response. Conclusions Our results suggest that CYP2E1 may be a potential risk gene for schizophrenia in the Chinese Han population. However, polymorphisms of the CYP2E1 gene may not contribute significantly to individual differences in the therapeutic efficacy of risperidone. Further

  15. Association study of a common variant near IRS1 with type 2 diabetes mellitus in Chinese Han population.

    PubMed

    Tang, Yong; Han, Xueyao; Sun, Xiuqin; Lv, Chao; Zhang, Xiaomei; Guo, Wulan; Ren, Qian; Luo, Yingying; Zhang, Xiuying; Zhou, Xianghai; Ji, Linong

    2013-02-01

    The insulin receptor substrate-1 (IRS1) plays an important role in insulin signaling. A recent genome-wide association study identified rs2943641C>T as a susceptibility locus for type 2 diabetes mellitus (T2DM) in Caucasian patients. Therefore, we determined whether this common variant near IRS1 is also associated with the risk of T2DM and T2DM-related phenotypes in a Chinese Han population. A total of 2,290 unrelated Chinese Han individuals residing in Beijing were recruited in this study, including 1177 T2DM patients and 1113 subjects with normal glucose tolerance (control group). The single nucleotide polymorphism (SNP) was genotyped using a MassARRAY iPLEX system. The frequency of risk allele C was 0.929 in the control group and 0.939 in patients with T2DM. We found no association between the C allele of rs2943641 and T2DM in a recessive model [OR 1.14, 95 % confidence interval (CI) 0.89-1.45, P = 0.298], or after adjusting for sex, age, and body mass index (BMI) (OR 1.10, 95 % CI 0.85-1.43, P = 0.301). Analysis of the clinical features of the control subjects with normal glucose tolerance revealed that the 30-min plasma glucose level during a 75-g oral glucose tolerance test was significantly different between the CC and CT+TT genotypes (P = 0.017). Linear regression analysis showed that the 30-min plasma glucose levels was significantly and positively associated with the CC genotype after adjusting for sex, age, and BMI (β = 0.065, 95 % CI 0.009-0.654, P = 0.044). In addition, a potential association between this SNP and increased waist circumference (β = 1.337, 95 % CI -0.179 to 2.853, P = 0.084) was observed with adjustment for the sex and age. Our study was not able to demonstrate the association between rs2943641 near IRS1 and T2DM in a Chinese Han population. However, this SNP may be associated with postprandial hyperglycemia.

  16. The FOXO1 Gene-Obesity Interaction Increases the Risk of Type 2 Diabetes Mellitus in a Chinese Han Population

    PubMed Central

    2017-01-01

    Here, we aimed to study the effect of the forkhead box O1-insulin receptor substrate 2 (FOXO1-IRS2) gene interaction and the FOXO1 and IRS2 genes-environment interaction for the risk of type 2 diabetes mellitus (T2DM) in a Chinese Han population. We genotyped 7 polymorphism sites of FOXO1 gene and IRS2 gene in 780 unrelated Chinese Han people (474 cases of T2DM, 306 cases of healthy control). The risk of T2DM in individuals with AA genotype for rs7986407 and CC genotype for rs4581585 in FOXO1 gene was 2.092 and 2.57 times higher than that with GG genotype (odds ratio [OR] = 2.092; 95% confidence interval [CI] = 1.178–3.731; P = 0.011) and TT genotype (OR = 2.571; 95% CI = 1.404–4.695; P = 0.002), respectively. The risk of T2DM in individuals with GG genotype for Gly1057Asp in IRS2 gene was 1.42 times higher than that with AA genotype (OR = 1.422; 95% CI = 1.037–1.949; P = 0.029). The other 4 single nucleotide polymorphisms (SNPs) had no significant association with T2DM (P > 0.05). Multifactor dimensionality reduction (MDR) analysis showed that the interaction between SNPs rs7986407 and rs4325426 in FOXO1 gene and waist was the best model confirmed by interaction analysis, closely associating with T2DM. There was an increased risk for T2DM in the case of non-obesity with genotype combined AA/CC, AA/AC or AG/AA for rs7986407 and rs4325426, and obesity with genotype AA for rs7986407 or AA for rs4325426 (OR = 3.976; 95% CI = 1.156–13.675; P value from sign test [Psign] = 0.025; P value from permutation test [Pperm] = 0.000–0.001). Together, this study indicates an association of FOXO1 and IRS2 gene polymorphisms with T2DM in Chinese Han population, supporting FOXO1-obesity interaction as a key factor for the risk of T2DM. PMID:28049237

  17. The FOXO1 Gene-Obesity Interaction Increases the Risk of Type 2 Diabetes Mellitus in a Chinese Han Population.

    PubMed

    Gong, Lilin; Li, Rong; Ren, Wei; Wang, Zengchan; Wang, Zhihong; Yang, Maosheng; Zhang, Suhua

    2017-02-01

    Here, we aimed to study the effect of the forkhead box O1-insulin receptor substrate 2 (FOXO1-IRS2) gene interaction and the FOXO1 and IRS2 genes-environment interaction for the risk of type 2 diabetes mellitus (T2DM) in a Chinese Han population. We genotyped 7 polymorphism sites of FOXO1 gene and IRS2 gene in 780 unrelated Chinese Han people (474 cases of T2DM, 306 cases of healthy control). The risk of T2DM in individuals with AA genotype for rs7986407 and CC genotype for rs4581585 in FOXO1 gene was 2.092 and 2.57 times higher than that with GG genotype (odds ratio [OR] = 2.092; 95% confidence interval [CI] = 1.178-3.731; P = 0.011) and TT genotype (OR = 2.571; 95% CI = 1.404-4.695; P = 0.002), respectively. The risk of T2DM in individuals with GG genotype for Gly1057Asp in IRS2 gene was 1.42 times higher than that with AA genotype (OR = 1.422; 95% CI = 1.037-1.949; P = 0.029). The other 4 single nucleotide polymorphisms (SNPs) had no significant association with T2DM (P > 0.05). Multifactor dimensionality reduction (MDR) analysis showed that the interaction between SNPs rs7986407 and rs4325426 in FOXO1 gene and waist was the best model confirmed by interaction analysis, closely associating with T2DM. There was an increased risk for T2DM in the case of non-obesity with genotype combined AA/CC, AA/AC or AG/AA for rs7986407 and rs4325426, and obesity with genotype AA for rs7986407 or AA for rs4325426 (OR = 3.976; 95% CI = 1.156-13.675; P value from sign test [P(sign)] = 0.025; P value from permutation test [P(perm)] = 0.000-0.001). Together, this study indicates an association of FOXO1 and IRS2 gene polymorphisms with T2DM in Chinese Han population, supporting FOXO1-obesity interaction as a key factor for the risk of T2DM.

  18. Possible interaction between MAOA and DRD2 genes associated with antisocial alcoholism among Han Chinese men in Taiwan.

    PubMed

    Wang, Tso-Jen; Huang, San-Yuan; Lin, Wei-Wen; Lo, Hsin-Yi; Wu, Pei-Lin; Wang, Yu-Shan; Wu, Yi-Syuan; Ko, Huei-Chen; Shih, Jean-Chen; Lu, Ru-Band

    2007-01-30

    Both monoamine oxidase A (MAOA) and dopamine D(2) receptor (DRD2) genes have been considered as candidate genes for antisocial personality disorder with alcoholism (Antisocial ALC) [Parsian, A., 1999. Sequence analysis of exon 8 of MAO-A gene in alcoholics with antisocial personality and normal controls. Genomics. 45, 290-295.; Samochowiec, J., Lesch, K.P., Rottmann, M., Smolka, M., Syagailo, Y.V., Okladnova, O., Rommelspacher, H., Winterer, G., Schmidt, L.G., Sander, T., 1999. Association of a regulatory polymorphism in the promoter region of the monoamine oxidase A gene with antisocial alcoholism. Psychiatry. Res. 86, 67-72.; Schmidt, L.vG., Sander, T., Kuhn, S., Smolka, M., Rommelspacher, H., Samochowiec, J., Lesch, K.P., 2000. Different allele distribution of a regulatory MAO-A gene promotor polymorphism in antisocial and anxious-depressive alcoholics. J. Neural .Transm. 107, 681-689.]. However, the association between alcoholism and MAOA or DRD2 gene has not been universally accepted [Lee, J.F., Lu, R.B., Ko, H.C., Chang, F.M., Yin, S.J., Pakstis, A.J., Kidd, K.K., 1999. No association between DRD(2) locus and alcoholism after controlling the ADH and ALDH genotypes in Chinese Han population. Alcohol. Clin. Exp. Res. 23, 592-599.; Lu, R.B., Lin, W.W., Lee, J.F., Ko, H.C., Shih, J.C., 2003. Neither antisocial personality disorder nor antisocial alcoholism association with MAOA gene among Han Chinese males in Taiwan. Alcohol. Clin. Exp. Res. 27, 889-893.]. Since dopamine is metabolized to 3,4-dihydroxyphenyl-acetaldehyde (DOPAL) via monoamine oxidase (MAO) [Westerink, B.H., de Vries, J.B., 1985. On the origin of dopamine and its metabolite in predominantly noradrenergic innervated brain areas. Brain. Res. 330, 164-166.], the interaction between MAOA and DRD2 genes might be related to Antisocial ALC. The present study aimed to determine whether Antisocial ALC might be associated with the possible interactions of DRD2 gene with MAOA gene. Of the 231 Han Chinese

  19. Genetic data of nine non-CODIS STRs in Chinese Han population from Guangdong Province, Southern China.

    PubMed

    Lu, De-Jian; Liu, Qiu-Ling; Zhao, Hu

    2011-01-01

    Nine non-combined DNA index system tetranucleotide short tandem repeat (STR) loci D2S1772, D6S1043, D7S3048, D8S1132, D11S2368, D12S391, D13S325, D18S1364, and GATA198B05 were amplified in a multiplex polymerase chain reaction system. The distribution of alleles of the nine STRs was reported from a Chinese Han population in Guangdong Province, Southern China. The combined power of exclusion in trios and duos for the nine loci was 0.999981 and 0.999025, respectively. Mutation rates range from 0 to 0.005618. Pairwise analysis of linkage disequilibrium, which included PowerPlex 16 System loci, did show statistically significant deviation from independence even though loci locate on the same chromosomes. The nine STRs are highly informative and suitable to extend the results obtained with other STRs commonly analyzed for difficult paternity and kinship analysis.

  20. Correlation between Serum Level of Monocyte Chemoattractant Protein-1 and Postoperative Recurrence of Spinal Tuberculosis in the Chinese Han Population

    PubMed Central

    He, Dan; Zhang, Xiaolu; Gao, Qile; Huang, Rongfu; Deng, Zhansheng; Guo, Chaofeng; Guo, Qiang; Huang, Jia; Zhang, Hongqi

    2015-01-01

    Objective To correlate serum level of monocyte chemoattractant protein-1 (MCP-1) with postoperative recurrence of spinal tuberculosis in the Chinese Han population. Methods Patients of Han nationality with newly diagnosed spinal tuberculosis were consecutively included in this study. At different time points postoperatively, serum level of MCP-1 was determined using an enzyme linked immunosorbent assay. Recurrence of spinal tuberculosis after surgery and during the follow-up period was recorded. The correlation between serum MCP-1 level and recurrence of spinal tuberculosis was analyzed. Results A total of 169 patients with spinal tuberculosis were included in the study and followed up for an average of2.2±1.3 years (range, 1–5 years). Of these patients, 11 had postoperative recurrence of spinal tuberculosis. The patients’ serum level of MCP-1 increased significantly after postoperative recurrence of spinal tuberculosis. Once the symptoms of recurrence were cured, the serum level of MCP-1 decreased significantly and it did not differ from patients without disease recurrence. Conclusion Postoperative recurrence of spinal tuberculosis is likely to increase the serum level of MCP-1. PMID:25962150

  1. Genetic polymorphism of the Nrf2 promoter region is associated with vitiligo risk in Han Chinese populations.

    PubMed

    Song, Pu; Li, Kai; Liu, Ling; Wang, Xiaowen; Jian, Zhe; Zhang, Weigang; Wang, Gang; Li, Chunying; Gao, Tianwen

    2016-10-01

    The nuclear factor erythroid-derived two-like 2-antioxidant response element (Nrf2-ARE) pathway and its downstream antioxidant enzyme heme oxygenase-1 (HMOX1 or HO-1) play essential roles in H2 O2 -induced oxidative damage in human melanocytes. However, the link between Nrf2 promoter polymorphisms and susceptibility to oxidative stress-related diseases such as vitiligo is unknown. This study evaluated the association of the Nrf2 and HO-1 genes polymorphisms with vitiligo susceptibility. In this case-control study of 1136 Han Chinese vitiligo patients and 1200 controls, Nrf2 (rs35652124 and rs6721961) and HO-1 (rs2071746) genes were genotyped by PCR-restriction fragment length polymorphism analysis. Overall, a significantly decreased risk of vitiligo was found to be associated with Nrf2 rs35652124 CC and combined (CT+CC) genotypes [odds ratio (OR) 0.64, 95% confidence interval (CI) 0.50-0.83 and OR, 0.84, 95% CI 0.71-0.99, respectively], as well as among subgroups: female, onset age ≤20 and never smoker. We subsequently found that Nrf2 rs35652124 C allele had higher transcriptional activity in the luciferase reporter assay compared with Nrf2 rs35652124 T allele. Furthermore, we investigated serum HO-1 activity was associated with the rs35652124 CT+CC genotype and lower in patients than in controls (P = 0.024). Logistic regression analysis showed a dose-response relationship between lower vitiligo risk and increased HO-1 activity in rs35652124 CT+CC genotype carriers (Ptrend < 0.05). These findings indicate that the C allele of rs35652124 located in the promoter region of Nrf2 gene is associated with protective effect on vitiligo in a Han Chinese population.

  2. Association of TNFSF4 Polymorphisms with Vogt-Koyanagi-Harada and Behcet’s Disease in Han Chinese

    PubMed Central

    Lu, Sha; Song, Shengfang; Hou, Shengping; Li, Hua; Yang, Peizeng

    2016-01-01

    To investigate whether single nucleotide polymorphisms (SNPs) of the Tumor Necrosis Factor Superfamily 4 (TNFSF4) gene are associated with Vogt–Koyanagi–Harada (VKH) and Behcet’s disease (BD) in a Chinese Han population. A two-stage case control study was carried out in 1331 VKH, 938 BD and 1752 healthy controls. Ten TNFSF4 SNPs, including rs1234314, rs1234315, rs2205960, rs704840, rs2795288, rs844654, rs12039904, rs10912580, rs844665, and rs844644, were genotyped using the PCR-restriction fragment length polymorphism method. Genotype and allele frequencies were analyzed between cases and healthy controls using the X2 or Fisher’s exact test and p values were corrected for multiple comparisons. We observed a significantly increased frequency of the TT genotype of rs1234315 in BD patients (Pc = 1.44 × 10−5, OR = 1.734, 95% CI = 1.398–2.151). The frequency of the TT genotype of rs12039904 was significantly higher in patients with VKH disease as compared to controls (Pc = 4.62 × 10−5, OR = 1.959, 95% CI = 1.483–2.588). Analysis of clinical manifestations in VKH disease and BD did not show an association with the TNFSF4 gene polymorphisms. The study suggests that the TNFSF4 gene may be involved in the susceptibility to VKH disease and BD in Han Chinese. PMID:27872495

  3. Association study of NRXN3 polymorphisms with schizophrenia and risperidone-induced bodyweight gain in Chinese Han population.

    PubMed

    Hu, Xiaofeng; Zhang, Jishui; Jin, Chao; Mi, Weifeng; Wang, Fang; Ma, Wenbin; Ma, Cuicui; Yang, Yongfeng; Li, Wenqiang; Zhang, Hongxing; Du, Bo; Li, Keqing; Liu, Chenxing; Wang, Lifang; Lu, Tianlan; Zhang, Hongyan; Lv, Luxian; Zhang, Dai; Yue, Weihua

    2013-06-03

    Recent researches have implicated that mutations in the neurexin-3 (NRXN3) gene on chromosome 14q24.3-q31.1 might play a role in addiction, autism, and obesity. In order to explore the association of NRXN3 polymorphisms with schizophrenia, we examined seven single nucleotide polymorphisms (SNPs) in NRXN3 spanning 1.33 Mb of this gene, in a Chinese Han sample of 1214 schizophrenic patients and 1517 healthy control subjects. Our results showed that three SNPs were associated with schizophrenia (rs7157669: A>C, p=0.006; rs724373: C>T, p=0.014; rs7154021: C>T, p=0.018). After being corrected for multiple tests, the association of rs7157669 remained significant but those for two others were modest. According to the linkage disequilibrium pattern, the 7 SNPs may construct 3 haplotype blocks. Several haplotypes were significantly associated with schizophrenia, constructed by rs11624704-rs7157669-rs724373 (AAC, p=0.003; ACT, p=0.007, both remained significant after permutation tests), rs7154021-rs7142344 (TT, p=0.024; CT, p=0.012), respectively. Among the patients, 326 ones at first onset have received 6-week monotherapy of risperidone. Further analyses showed that two SNPs were associated with percentage of bodyweight gain following a 6-week therapy of risperidone (rs11624704: p=0.03; rs7154021: p=0.008) and rs7154021 remained significant after permutation test. Our findings suggested that NRXN3 might represent a major susceptibility gene for schizophrenia and have a role in bodyweight gain related to therapy of risperidone in Chinese Han population.

  4. Relationship between single nucleotide polymorphism of interleukin-18 and susceptibility to pulmonary tuberculosis in the Chinese Han population.

    PubMed

    Han, Min; Yue, Jun; Lian, Yuan-Yuan; Zhao, Yan-Lin; Wang, Hong-Xiu; Liu, Li-Rong

    2011-06-01

    Interleukin-18 (IL-18) is a multi-functional cytokine capable of inducing either Th1 or Th2 polarization depending on the immunologic milieu. IL-18 may influence the host response to Mycobacterium tuberculosis (M.tb) infection. To investigate the relationship between single nucleotide polymorphisms of the IL-18 and susceptibility to pulmonary tuberculosis in the Chinese Han population, the IL-18 gene was sequenced to detect polymorphisms and to examine the genotype frequencies in 300 patients and 702 healthy controls. DNA sequencing revealed three IL-18 variants: rs1946518, rs5744247, and rs549908. It also revealed that allele A of rs1946518 confers a 1.47-fold increased risk of developing tuberculosis (TB) (P = 0.0001, OR [95%CI] = 1.47 [1.21-1.78]), and that the C allele of rs5744247 confers a 0.77-fold decreased risk of disease (P = 0.01, R [95%CI] = 0.77 [0.632-0.937]). The genotypes rs1946518, rs5744247 and rs549908 were found to be significantly associated with TB. Estimation of the frequencies of haplotypes revealed a potential risk haplotype AGA (P = 0.01, OR [95%CI] = 1.41 [1.15-1.72]) and a protective haplotype CCA (P = 0.01, OR [95%CI] = 0.70 [0.57-0.85]) for TB. The present findings suggest that polymorphisms in the IL-18 gene may affect susceptibility to TB and increase the risk of developing the disease in the Chinese Han population.

  5. Association of polymorphisms in the telomere-related gene ACYP2 with lung cancer risk in the Chinese Han population

    PubMed Central

    Guo, Wen; You, Jiangtao; Wu, Qifei; Zhang, Guangjian; Li, Haijun; Geng, Donghong; Jin, Tianbo; Fu, Junke; Zhang, Yong

    2016-01-01

    Single nucleotide polymorphisms (SNPs) in the telomere-associated gene ACYP2 are associated with increased lung cancer risk. We explored the correlation between ACYP2 SNPs and lung cancer susceptibility in the Chinese Han population. A total of 554 lung cancer patients and 603 healthy controls were included in this study. Thirteen SNPs in ACYP2 were selected. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using unconditional logistic regression analysis. Multivariate logistic regression analysis was used assess the correlation between SNPs and lung cancer. We found that rs1682111 was associated with increased lung cancer risk in the recessive model (crude, OR=1.50, 95%CI: 1.04-2.16, p=0.029; adjusted for age, OR=1.55, 95%CI: 1.04-2.30, p=0.029), as was rs11896604 in the codominant model (crude, OR=0.65, 95%CI: 0.33-1.28, p=0.045; adjusted for age, OR=0.74, 95%CI: 0.36-1.53, p=0.049) and over-dominant model (crude, OR=1.30, 95%CI: 1.02-1.66, p=0.032; adjusted for age, OR=1.37, 95%CI: 1.05-1.78, p=0.020). Finally, rs843720 was associated with increased lung cancer risk in the recessive model (crude, OR=1.43, 95%CI: 1.02-2.02, p=0.040; adjusted for age, OR=1.48, 95%CI: 1.02-2.15, p=0.040). Thus three SNPs in ACYP2 (rs1682111, rs11896604 and rs843720) associate with lung cancer in the Chinese Han population. PMID:27974682

  6. Significant association of GRM7 and GRM8 genes with schizophrenia and major depressive disorder in the Han Chinese population.

    PubMed

    Li, Wenjin; Ju, Kang; Li, Zhiqiang; He, Kuanjun; Chen, Jianhua; Wang, Qingzhong; Yang, Beimeng; An, Lin; Feng, Guoyin; Sun, Weiming; Zhou, Juan; Zhang, Shasha; Song, Pingping; Khan, Raja; Ji, Weidong; Shi, Yongyong

    2016-01-01

    Metabotropic glutamate receptor type 7 (GRM7) and type 8 (GRM8) are involved in the neurotransmission of glutamate which is supposed to play an important role in the development of schizophrenia (SCZ) and major depressive disorders (MDD). We designed this study to investigate whether common DNA variants or their genetic interactions within GRM7 and GMR8 genes were associated with these disorders in the Han Chinese population. Fourteen SNPs in GRM7 and GRM8 were selected within a sample set comprising 1235 SCZ patients, 1045 MDD patients and 1235 normal controls. Significant association in SCZ case-control subjects was observed for rs2229902 (permutated Pallele=0.0005, OR=1.492 [95% CI=1.231-1.807]) and rs9870680 (permutated Pallele=0.0023, OR=1.262 [95% CI=1.116-1.426]) in GRM7 and rs2237781 (permutated Pallele=0.0027, OR=1.346 [95% CI=1.149-1.575]) in GRM8. Association analysis for MDD case-control subjects revealed positive results in rs779706 (permutated Pallele=0.0099, OR=1.237 [95% CI=1.093-1.399]) of GRM7 and in rs1361995 (permutated Pallele=0.0017, OR=1.488 [95% CI=1.215-1.823]) of GRM8. Moreover, a three-locus model, constituted by polymorphisms in GRM7 and GRM8 significantly correlated with MDD in the gene-gene interaction analysis. Meta-analysis and haplotype analysis further confirmed our significant results. We demonstrated the genetic association of GRM7 and GRM8 with SCZ and MDD in the Han Chinese population. We also found susceptibility interactive effects of these two genes with both psychiatric disorders, which might provide new insights into the etiology of them.

  7. CTLA-4 confers a risk of recurrent schizophrenia, major depressive disorder and bipolar disorder in the Chinese Han population.

    PubMed

    Liu, Jie; Li, Junyan; Li, Tao; Wang, Ti; Li, You; Zeng, Zhen; Li, Zhiqiang; Chen, Peng; Hu, Zhiwei; Zheng, Lingqing; Ji, Jue; Lin, He; Feng, Guoyin; Shi, Yongyong

    2011-03-01

    Previous studies have reported that the cytotoxic T lymphocyte antigen-4 (CTLA-4) gene, which is related to immunological function such as T-cell regulation, is associated with psychiatric disorders. In this study, we studied the relationship between CTLA-4 and three major psychiatric disorders, schizophrenia, major depressive disorder and bipolar disorder in the Chinese Han population. We recruited 1140 schizophrenia patients, 1140 major depressive disorder patients, 1140 bipolar disorder patients, and 1140 normal controls to examine the risk conferred by 6 tag SNPs (rs231777, rs231775, rs231779, rs3087243, rs5742909, rs16840252) in the CTLA-4 gene. We found that rs231779 conferred a risk for schizophrenia (P(allele)=0.0003, P(genotype)=0.0016), major depressive disorder (P(allele)=0.0006, P(genotype)=0.0026) and bipolar disorder (P(allele)=0.0004, P(genotype)=0.0018). In addition, rs231777 and rs16840252 had a significant association with schizophrenia (rs231777: P(allele)=0.0201, rs16840252: P(allele)=0.0081, P(genotype)=0.0117), and rs231777 had significant association with bipolar disorder (rs231777: P(allele)=0.0199). However, after 10,000 permutations, only rs231779 remained significant (schizophrenia: P(allele)=0.0010, P(genotype)=0.0145, major depressive disorder: P(allele)=0.0010, P(genotype)=0.0201, bipolar disorder: P(allele)=0.0008, P(genotype)=0.0125). Our results suggest that shared common risk factors for schizophrenia, major depressive disorder and bipolar disorder exist in the CTLA-4 gene in the Chinese Han population.

  8. CHRNA5 polymorphisms and risk of lung cancer in Chinese Han smokers

    PubMed Central

    Huang, Chong-Ya; Xun, Xiao-Jie; Wang, A-Jing; Gao, Ya; Ma, Jing-Yuan; Chen, Yuan-Tang; Jin, Tian-Bo; Hou, Peng; Gu, Shan-Zhi

    2015-01-01

    Lung cancer is the most frequent cancer among men in many countries. It is the result of interactions between genetic and environmental factors, among which tobacco smoking is a key environmental factor. CHRNA5, Cholinergic Receptor, Neuronal Nicotinic, Alpha Polypeptide-5, was previously reported to be associated with lung cancer risk. To identify the genetic susceptibility and tobacco smoking that influence lung cancer risk in Han population, we performed a case-control study in 228 patients and 301 controls. These data were compared using the χ2-test, genetic model analysis, and haplotype analysis. rs495956, rs680244, rs601079, rs555018, 588765 and rs11637635 showed an increased risk of lung cancer in both allelic model and genetic mode analysis. The genotype G/A-A/A of rs11637635 was most strongly associated with a 2.17-fold increased risk of lung cancer in dominant model (p = 0.018). One SNP, rs684513, was associated with a 0.645-fold decreased risk (p = 0.033) in allelic model analysis. By haplotype association analysis, haplotype sequences CTTATCAAAGA and GA of CHRNA5 were found to be associated with a 2.03-fold and 1.91-fold increased lung cancer risk (p < 0.05). Our results, combined with those from previous studies, suggest that genetic variation in CHRNA5 may influence susceptibility to lung cancer among Han smokers. PMID:26693074

  9. Gene environment interaction of GALNT2 and APOE gene with hypertension in the Chinese Han Population.

    PubMed

    Zhang, Xuejuan; Zhao, Haiping; Zhang, Jietao; Han, Di; Zheng, Yu; Guo, Xiaozi; He, Dian; Guo, Jin; Wang, Yingcui

    2015-01-01

    In some GWAs studies, GALNT2 and APOE polymorphisms have been identified to be related to alterations of plasma or serum HDL-C and TG concentrations. The purpose of our study is to assess the contribution of GALNT2 rs4846914, APOE rs429358, rs7412, rs405509 variants, and several environmental factors to the development of hypertension disease in the China Han population. A hospital-based case-control study was conducted. Cases were hypertension (n=211) and controls were normal participants (n=434). The AA, AG, and GG genotype frequencies of GALNT2 rs4846914 were 22.8%, 43.1%, and 34.1% in hypertension subjects, and 35.3%, 44.2%, and 20.5% in controls (P<0.05), respectively. The OR of the AG genotype adjusted for all risk factors compared to the AA genotype was 1.61 (95%CI: 1.02 to 2.56) and to the GG genotype 2.67 (95%CI: 1.59 to 4.488). There was no significant difference between the APOE rs429358, rs7412, and rs405509 genotype frequencies in hypertension and control subjects. The present work indicates that SNP rs4846914 in GALNT2 gene is related to an increased risk of hypertension in China Han population, but the APOE gene is not.

  10. Identification of rare variants of DSP gene in Sudden Unexplained Nocturnal Death Syndrome in the southern Chinese Han population

    PubMed Central

    Zhao, Qianhao; Chen, Yili; Peng, Longlun; Gao, Rui; Liu, Nian; Jiang, Pingping; Liu, Chao; Tang, Shuangbo

    2016-01-01

    Sudden unexplained nocturnal death syndrome (SUNDS) is a perplexing disorder to both forensic pathologists and clinic physicians. Desmoplakin (DSP) gene was the first desmosomal gene linked to arrhythmogenic right ventricular cardiomyopathy (ARVC) which was associated with sudden death. To identify the genetic variants of the DSP gene in SUNDS in the southern Chinese Han population, we genetically screened the DSP gene in 40 sporadic SUNDS victims, 16 Brugada syndrome (BrS) patients and 2 Early Repolarization syndrome (ERS) patients using Next Generation Sequencing (NSG) and direct Sanger sequencing. A total of 10 genetic variants of the DSP gene were detected in 11 cases, comprised of two novel missense mutations (p.I125F and p.D521A) and eight previously reported rare variants. Of eight reported variants, two were previously considered pathogenic (p.Q90R and p.R2639Q), three were predicted in silico to bepathogenic (p.R315C, p.E1357D and p.D2579H), and the rest three were predicted to be benign (p.N1234S, p.R1308Q and p.T2267S). This is the first report of DSP genetic screening in Chinese SUNDS and Brugada syndrome. Our results implies that DSP mutations contribute to the genetic cause of some SUNDS victims and maybe a new susceptible gene for Brugada syndrome. PMID:26585738

  11. TIMP-2 SNPs rs7342880 and rs4789936 are linked to risk of knee osteoarthritis in the Chinese Han Population.

    PubMed

    Xu, Pengcheng; Guo, Wen; Jin, Tianbo; Wang, Jihong; Fan, Dongsheng; Hao, Zengtao; Jing, Shangfei; Han, ChaoQian; Du, Jieli; Jiang, Dong; Wen, Shuzheng; Wang, Jianzhong

    2017-01-03

    This study aimed to investigate whether functional polymorphisms in the tissue inhibitors of metalloproteinase-2 (TIMP-2) gene are associated with susceptibility to knee osteoarthritis (OA) in the Chinese Han population. Six TIMP-2 single nucleotide polymorphisms (SNPs) were assayed using MassARRAY in 300 patients clinically and radiographically diagnosed with knee OA and in 428 controls. Allelic and genotypic frequencies were compared between groups. Logistic regression adjusting for age and gender was used to estimate risk associations between specific genotypes and knee OA by computing odds ratios (ORs) and 95% confidence intervals (95% CIs). We found that allele "A" in rs7342880 was significantly associated with increased risk of knee OA (OR = 1.44, 95%CI = 1.09-1.91, p = 0.035). In addition, in the over-dominant model, rs4789936 correlated with reduced risk of knee OA, adjusting for age and gender (OR = 0.69, 95%CI = 0.49-0.98, p = 0.036). Finally, rs7342880 correlated with increased risk of knee OA in females. This study provides evidence that TIMP-2 is a knee OA susceptibility gene in the Chinese population and a potential diagnostic and preventive marker for the disease.

  12. TIMP-2 SNPs rs7342880 and rs4789936 are linked to risk of knee osteoarthritis in the Chinese Han Population

    PubMed Central

    Jin, Tianbo; Wang, Jihong; Fan, Dongsheng; Hao, Zengtao; Jing, Shangfei; Han, ChaoQian; Du, Jieli; Jiang, Dong; Wen, Shuzheng; Wang, Jianzhong

    2017-01-01

    This study aimed to investigate whether functional polymorphisms in the tissue inhibitors of metalloproteinase-2 (TIMP-2) gene are associated with susceptibility to knee osteoarthritis (OA) in the Chinese Han population. Six TIMP-2 single nucleotide polymorphisms (SNPs) were assayed using MassARRAY in 300 patients clinically and radiographically diagnosed with knee OA and in 428 controls. Allelic and genotypic frequencies were compared between groups. Logistic regression adjusting for age and gender was used to estimate risk associations between specific genotypes and knee OA by computing odds ratios (ORs) and 95% confidence intervals (95% CIs). We found that allele “A” in rs7342880 was significantly associated with increased risk of knee OA (OR = 1.44, 95%CI = 1.09-1.91, p = 0.035). In addition, in the over-dominant model, rs4789936 correlated with reduced risk of knee OA, adjusting for age and gender (OR = 0.69, 95%CI = 0.49-0.98, p = 0.036). Finally, rs7342880 correlated with increased risk of knee OA in females. This study provides evidence that TIMP-2 is a knee OA susceptibility gene in the Chinese population and a potential diagnostic and preventive marker for the disease. PMID:27901480

  13. Identification of rare variants of DSP gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.

    PubMed

    Zhao, Qianhao; Chen, Yili; Peng, Longlun; Gao, Rui; Liu, Nian; Jiang, Pingping; Liu, Chao; Tang, Shuangbo; Quan, Li; Makielski, Jonathan C; Cheng, Jianding

    2016-03-01

    Sudden unexplained nocturnal death syndrome (SUNDS) is a perplexing disorder to both forensic pathologists and clinic physicians. Desmoplakin (DSP) gene was the first desmosomal gene linked to arrhythmogenic right ventricular cardiomyopathy (ARVC) which was associated with sudden death. To identify the genetic variants of the DSP gene in SUNDS in the southern Chinese Han population, we genetically screened the DSP gene in 40 sporadic SUNDS victims, 16 Brugada syndrome (BrS) patients, and 2 early repolarization syndrome (ERS) patients using next generation sequencing (NSG) and direct Sanger sequencing. A total of 10 genetic variants of the DSP gene were detected in 11 cases, comprised of two novel missense mutations (p.I125F and p.D521A) and eight previously reported rare variants. Of eight reported variants, two were previously considered pathogenic (p.Q90R and p.R2639Q), three were predicted in silico to be pathogenic (p.R315C, p.E1357D and p.D2579H), and the rest three were predicted to be benign (p.N1234S, p.R1308Q, and p.T2267S). This is the first report of DSP genetic screening in Chinese SUNDS and Brugada syndrome. Our results imply that DSP mutations contribute to the genetic cause of some SUNDS victims and maybe a new susceptible gene for Brugada syndrome.

  14. SNP-SNP interactions between WNT4 and WNT5A were associated with obesity related traits in Han Chinese Population

    PubMed Central

    Dong, Shan-Shan; Hu, Wei-Xin; Yang, Tie-Lin; Chen, Xiao-Feng; Yan, Han; Chen, Xiang-Ding; Tan, Li-Jun; Tian, Qing; Deng, Hong-Wen; Guo, Yan

    2017-01-01

    Considering the biological roles of WNT4 and WNT5A involved in adipogenesis, we aimed to investigate whether SNPs in WNT4 and WNT5A contribute to obesity related traits in Han Chinese population. Targeted genomic sequence for WNT4 and WNT5A was determined in 100 Han Chinese subjects and tag SNPs were selected. Both single SNP and SNP × SNP interaction association analyses with body mass index (BMI) were evaluated in the 100 subjects and another independent sample of 1,627 Han Chinese subjects. Meta-analyses were performed and multiple testing corrections were carried out using the Bonferroni method. Consistent with the Genetic Investigation of ANthropometric Traits (GIANT) dataset results, we didn’t detect significant association signals in single SNP association analyses. However, the interaction between rs2072920 and rs11918967, was associated with BMI after multiple testing corrections (combined P = 2.20 × 10−4). The signal was also significant in each contributing data set. SNP rs2072920 is located in the 3′-UTR of WNT4 and SNP rs11918967 is located in the intron of WNT5A. Functional annotation results revealed that both SNPs might be involved in transcriptional regulation of gene expression. Our results suggest that a combined effect of SNPs via WNT4-WNT5A interaction may affect the variation of BMI in Han Chinese population. PMID:28272483

  15. The effect of MTHFR C677T polymorphism on type 2 diabetes mellitus with vascular complications in Chinese Han population: a meta-analysis.

    PubMed

    Zhang, Dan; Zhou, Yijun; Han, Lingling; Ji, Hongmei; Li, Jia

    2014-01-01

    Methylenetetrahydrofolate reductase plays an important role in folate metabolism. Individuals who are type 2 diabetes mellitus have greatest risk for the development of vascular complications. The results of studies which assessed the association between MTHFR C677T polymorphism and T2DM with vascular complications were inconsistent in the Chinese Han population. The purpose of this meta-analysis was to assess the associations between MTHFR C677T polymorphism and T2DM with vascular complications in the Chinese Han population. We collected all relevant articles on MTHFR C677T polymorphisms and T2DM with vascular complications in the Chinese Han population in multiple electronic databases which were searched to December 2013. Fixed-effects and random-effects meta-analyses were performed to assess the odds ratios (ORs). Stratified Analysis, sensitivity Analysis and publication bias were examined. A total of 1984 diabetic patients with vascular complications and 1703 single diabetic patients were found in meta-analysis. There was a significant association between MTHFR C677T polymorphisms and T2DM with vascular complications under recessive genetic model, dominant genetic model, homozygous genetic model, heterozygous genetic model and allele comparison. Sensitivity analysis indicated that the overall result was dependable. Our meta-analysis suggests the MTHFR C677T polymorphisms is associated with T2DM with vascular complications in the Chinese Han population.

  16. Multiplex assay development and mutation rate analysis for 13 RM Y-STRs in Chinese Han population.

    PubMed

    Zhang, Wenqiong; Xiao, Chao; Yu, Jin; Wei, Tian; Liao, Fei; Wei, Wei; Huang, Daixin

    2017-03-01

    In this study, a novel multiplex polymerase chain reaction (PCR) assay was developed for amplifying the newly introduced 13 rapidly mutating Y-STR markers (RM Y-STRs) including DYF387S1, DYF399S1, DYF403S1a/b, DYF404S1, DYS449, DYS518, DYS526b, DYS547, DYS570, DYS576, DYS612, DYS626, and DYS627. In addition, a survey for mutation rates of the 13 RM Y-STRs in Chinese Han population was performed to make sure of the mutation characteristic and application in Chinese group. With 14,476 allele transfers in 1034 father-son pairs, 221 mutation events occurred, of which 215 were one-step mutations and 6 were two-step mutations. Nineteen father-son pairs were found to have mutations at two loci and one pair at three loci. Based upon our research data, 18.96 % of all 1034 father-son pairs were successfully differentiated, and the estimated locus-specific mutation rates varied from 4.84 × 10(-3) to 6.29 × 10(-2), with an average estimated mutation rate 1.53 × 10(-2) (95 % CI 1.33 × 10(-2) to 1.74 × 10(-2)). Among the 13 Y-STR markers, eight loci (DYF399S1, DYF403S1a, DYF404S1, DYS449, DYS518, DYS547, DYS576, and DYS612) had mutation rates higher than 1.00 × 10(-2), and the rest loci lower than 1.00 × 10(-2) in Chinese samples.

  17. Association between TGFBR2 gene polymorphisms and congenital heart defects in Han Chinese population.

    PubMed

    Huang, Fuhua; Li, Li; Shen, Chong; Wang, Hairu; Chen, Jinfeng; Chen, Wen; Chen, Xin

    2014-10-31

    Antecedentes: Factor de crecimiento transformante receptor II (TGFBR2) es un componente clave de la via de señalización de TGF - .TGFBR2 puede ser detectado en la generación de corazón. Los embriones de ratón de TGFBR2 gene knockout mostraron defectos congénitos del corazon. Métodos: Hemos realizado un estudio de casos y controles para investigar la asociación entre polimorfismos del gen TGFBR2 y defectos congénitos del corazón en la población china han. 125 pacientes con defectos congénitos del corazón y 615 unrelated controles fueron reclutados. Marcado de dos polimorfismos de nucleótido único (tagsnps) en 5 ‘aguas arriba del gen TGFBR2 (rs6785358, - 3779a / g; rs764522, - 1444c / g) fueron seleccionados y genotipados por reacción en cadena de la polimerasa (PCR) - polimorfismos de longitud de fragmentos de restricción (RFLP) de ensayo. Resultados: Se observó una diferencia significativa en la distribución de genotipos entre pacientes con defectos congénitos del corazón y controles para SNP rs6785358 (P = 0043). La SNP rs6785358 el porteador del alelo G (AG / GG genotipo) mostraron un importante crecimiento y mayor riesgo de defectos congénitos del corazón en comparación con AA homocigotos (OR = 1.545, IC del 95%: 1.013–2.356). Más análisis por sexo estratificación indicó que los individuos con alelo G (AG / GG genotipo) para SNP rs6785358 tienen una mayor susceptibilidad a defectos congénitos del corazón (OR = 2.088, IC del 95%: 1.123-3.883, p = 0.019) en machos, pero no en las mujeres (OR = 1.195, IC del 95%: 0.666-2.146, p = 0.55). No hay significación estadística fue detectado en la distribución de los genotipos y frecuencias de alelos de SNP rs764522 entre pacientes y controles. Conclusión: Nuestros resultados sugieren que el SNP rs6785358 de gen TGFBR2 se asoció con un mayor riesgo de defectos congénitos del corazón en los chinos han hombres y más investigación estaría justificada.

  18. Genetic variants in interferon-λ 4 influences HCV clearance in Chinese Han population

    PubMed Central

    Huang, Peng; Yao, Yinan; Yue, Ming; Tian, Ting; Chen, Hongbo; Chen, Mingzhu; Wang, Jie; Zhang, Yun; Yu, Rongbin

    2017-01-01

    Recent many studies indicated a novel dinucleotide variant in ss469415590 (TT vs. ΔG) of interferon-λ 4 (IFNL4) gene strongly associated with hepatitis C virus clearance. To evaluate the impact and clinical usefulness of IFNL4 ss469415590 genotype on predicting both spontaneous HCV clearance and response to therapy in Chinese population, we genotyped 795 chronic HCV carriers, 460 subjects with HCV natural clearance and 362 patients with pegylated interferon-α and ribavirin (PEG IFN-α/RBV) treatment. IFNL4 ss469415590 variant genotypes significantly decreased host HCV clearance, both spontaneous (dominant model: OR = 0.50, 95% CI = 0.36–0.71) and IFN-α induced (dominant model: OR = 0.32, 95% CI = 0.18–0.56). Multivariate stepwise analysis indicated that ss469415590, rs12979860, the level of baseline HCV RNA and platelet were as independent predictors for sustained virological response (SVR). But the area under the ROC curve (AUC) was only 0.58 for ss469415590, and it was elevated to 0.71 by adding rs12979860, baseline HCV RNA and platelet in the prediction model of SVR. Therefore, these findings underscore that although genetic factors of host and pathogen were commonly important during HCV clearance, ss469415590 may be also a strongly predictive marker in the Chinese population. PMID:28186161

  19. Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy.

    PubMed

    Fei, Ping; Zhu, Xiong; Jiang, Zhilin; Ma, Shi; Li, Jing; Zhang, Qi; Zhou, Yu; Xu, Yu; Tai, Zhengfu; Zhang, Lin; Huang, Lulin; Yang, Zhenglin; Zhao, Peiquan; Zhu, Xianjun

    2015-11-04

    Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disease characterized by defects in the development of retinal vessels. However, known genetic mutations can only explain approximately 50% of FEVR patients. To assess the mutation frequency of Frizzled 4 (FZD4) in Chinese patients, we analysed patients with FEVR from 61 families from China to identify mutations in FZD4 and to study the effects of identified mutations on FZD4 function. All coding exons and adjacent intronic regions of FZD4 were amplified by polymerase chain reaction and subjected to Sanger sequencing analysis. Three mutations in the FZD4 gene were identified in these families. Of these, two were novel mutations: p.E134* and p.T503fs. Both mutations involve highly conserved residues and were not present in 800 normal individuals. Each of these two novel FZD4 mutations was introduced into wild-type FZD4 cDNA by site-directed mutagenesis. Wild-type and mutant FZD4 DNAs were introduced into HEK293 cells to analyse the function of FZD4 in Norrin-dependent activation of the Norrin/β-catenin pathway using luciferase reporter assays. Both the p.E134* and p.T503fs mutants failed to induce luciferase reporter activity in response to Norrin. Our study identified two novel FZD4 mutations in Chinese patients with FEVR.

  20. The effect of geographical indices on left ventricular structure in healthy Han Chinese population

    NASA Astrophysics Data System (ADS)

    Cen, Minyi; Ge, Miao; Liu, Yonglin; Wang, Congxia; Yang, Shaofang

    2016-07-01

    The left ventricular posterior wall thickness (LVPWT) and interventricular septum thickness (IVST) are generally regarded as the functional parts of the left ventricular (LV) structure. This paper aims to examine the effects of geographical indices on healthy Han adults' LV structural indices and to offer a scientific basis for developing a unified standard for the reference values of adults' LV structural indices in China. Fifteen terrain, climate, and soil indices were examined as geographical explanatory variables. Statistical analysis was performed using correlation analysis. Moreover, a back propagation neural network (BPNN) and a support vector regression (SVR) were applied to developing models to predict the values of two indices. After the prediction models were built, distribution maps were produced. The results show that LV structural indices are characteristically associated with latitude, longitude, altitude, average temperature, average wind velocity, topsoil sand fraction, topsoil silt fraction, topsoil organic carbon, and topsoil sodicity. The model test analyses show the BPNN model possesses better simulative and predictive ability in comparison with the SVR model. The distribution maps of the LV structural indices show that, in China, the values are higher in the west and lower in the east. These results demonstrate that the reference values of the adults' LV structural indices will be different affected by different geographical environment. The reference values of LV structural indices in one region can be calculated by setting up a BPNN, which showed better applicability in this study. The distribution of the reference values of the LV structural indices can be seen clearly on the geographical distribution map.

  1. Serum apolipoprotein E concentration and polymorphism influence serum lipid levels in Chinese Shandong Han population.

    PubMed

    Han, ShuYi; Xu, YiHui; Gao, MeiHua; Wang, YunShan; Wang, Jun; Liu, YanYan; Wang, Min; Zhang, XiaoQian

    2016-12-01

    Apolipoprotein E (ApoE), which has been shown to influence serum lipid parameters, can bind to multiple types of lipids and plays an important role in the metabolism and homeostasis of lipids and lipoproteins. A previous study showed that ApoE concentration significantly affects serum lipid levels independently of ApoE polymorphism. The serum lipid levels were also closely correlated with dietary habits, and Shandong cuisine is famous for its high salt and oil contents, which widely differ among the different areas in China. Therefore, studying the effect of ApoE polymorphism on ApoE concentration and serum lipid levels in Shandong province is very important.A total of 815 subjects including 285 men and 530 women were randomly selected and studied from Jinan, Shandong province. In order to evaluate the association of ApoE polymorphism and serum level on lipid profiles, the ApoE genotypes, as well as levels of fasting serum ApoE and other lipid parameters, were detected in all subjects.The frequency of the ApoE E3 allele was highest (83.1%), while those of E2 and E4 were 9.4% and 7.5%, respectively, which are similar to those in other Asian populations. ApoE2 allele carriers showed significantly increased ApoE levels but lower levels of serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and Apolipoprotein B (ApoB).We found that ApoE level is influenced by ApoE polymorphism in a gene-dependent manner. The ApoE polymorphism showed different influences on serum lipid parameters with increasing age and body mass index (BMI) in our Shandong Han population.

  2. Serum apolipoprotein E concentration and polymorphism influence serum lipid levels in Chinese Shandong Han population

    PubMed Central

    Han, ShuYi; Xu, YiHui; Gao, MeiHua; Wang, YunShan; Wang, Jun; Liu, YanYan; Wang, Min; Zhang, XiaoQian

    2016-01-01

    Abstract Apolipoprotein E (ApoE), which has been shown to influence serum lipid parameters, can bind to multiple types of lipids and plays an important role in the metabolism and homeostasis of lipids and lipoproteins. A previous study showed that ApoE concentration significantly affects serum lipid levels independently of ApoE polymorphism. The serum lipid levels were also closely correlated with dietary habits, and Shandong cuisine is famous for its high salt and oil contents, which widely differ among the different areas in China. Therefore, studying the effect of ApoE polymorphism on ApoE concentration and serum lipid levels in Shandong province is very important. A total of 815 subjects including 285 men and 530 women were randomly selected and studied from Jinan, Shandong province. In order to evaluate the association of ApoE polymorphism and serum level on lipid profiles, the ApoE genotypes, as well as levels of fasting serum ApoE and other lipid parameters, were detected in all subjects. The frequency of the ApoE E3 allele was highest (83.1%), while those of E2 and E4 were 9.4% and 7.5%, respectively, which are similar to those in other Asian populations. ApoE2 allele carriers showed significantly increased ApoE levels but lower levels of serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and Apolipoprotein B (ApoB). We found that ApoE level is influenced by ApoE polymorphism in a gene-dependent manner. The ApoE polymorphism showed different influences on serum lipid parameters with increasing age and body mass index (BMI) in our Shandong Han population. PMID:27977609

  3. The effect of geographical indices on left ventricular structure in healthy Han Chinese population

    NASA Astrophysics Data System (ADS)

    Cen, Minyi; Ge, Miao; Liu, Yonglin; Wang, Congxia; Yang, Shaofang

    2017-02-01

    The left ventricular posterior wall thickness (LVPWT) and interventricular septum thickness (IVST) are generally regarded as the functional parts of the left ventricular (LV) structure. This paper aims to examine the effects of geographical indices on healthy Han adults' LV structural indices and to offer a scientific basis for developing a unified standard for the reference values of adults' LV structural indices in China. Fifteen terrain, climate, and soil indices were examined as geographical explanatory variables. Statistical analysis was performed using correlation analysis. Moreover, a back propagation neural network (BPNN) and a support vector regression (SVR) were applied to developing models to predict the values of two indices. After the prediction models were built, distribution maps were produced. The results show that LV structural indices are characteristically associated with latitude, longitude, altitude, average temperature, average wind velocity, topsoil sand fraction, topsoil silt fraction, topsoil organic carbon, and topsoil sodicity. The model test analyses show the BPNN model possesses better simulative and predictive ability in comparison with the SVR model. The distribution maps of the LV structural indices show that, in China, the values are higher in the west and lower in the east. These results demonstrate that the reference values of the adults' LV structural indices will be different affected by different geographical environment. The reference values of LV structural indices in one region can be calculated by setting up a BPNN, which showed better applicability in this study. The distribution of the reference values of the LV structural indices can be seen clearly on the geographical distribution map.

  4. The effect of geographical indices on left ventricular structure in healthy Han Chinese population.

    PubMed

    Cen, Minyi; Ge, Miao; Liu, Yonglin; Wang, Congxia; Yang, Shaofang

    2017-02-01

    The left ventricular posterior wall thickness (LVPWT) and interventricular septum thickness (IVST) are generally regarded as the functional parts of the left ventricular (LV) structure. This paper aims to examine the effects of geographical indices on healthy Han adults' LV structural indices and to offer a scientific basis for developing a unified standard for the reference values of adults' LV structural indices in China. Fifteen terrain, climate, and soil indices were examined as geographical explanatory variables. Statistical analysis was performed using correlation analysis. Moreover, a back propagation neural network (BPNN) and a support vector regression (SVR) were applied to developing models to predict the values of two indices. After the prediction models were built, distribution maps were produced. The results show that LV structural indices are characteristically associated with latitude, longitude, altitude, average temperature, average wind velocity, topsoil sand fraction, topsoil silt fraction, topsoil organic carbon, and topsoil sodicity. The model test analyses show the BPNN model possesses better simulative and predictive ability in comparison with the SVR model. The distribution maps of the LV structural indices show that, in China, the values are higher in the west and lower in the east. These results demonstrate that the reference values of the adults' LV structural indices will be different affected by different geographical environment. The reference values of LV structural indices in one region can be calculated by setting up a BPNN, which showed better applicability in this study. The distribution of the reference values of the LV structural indices can be seen clearly on the geographical distribution map.

  5. Relationship between clopidogrel-related polymorphisms and variable platelet reactivity at 1 year: A cohort study from Han Chinese

    PubMed Central

    Wang, Xiaodong; Lai, Yan; Luo, Yu; Zhang, Xumin; Zhou, Hua; Ye, Zi; Tang, Jiani; Liu, Xuebo

    2016-01-01

    Background: This study was designed to investigate the effect of clopidogrel-related gene polymorphisms on platelet reactivity and clinical outcome in Chinese Han patients. Materials and Methods: Three hundred and thirty-six percutaneous coronary intervention - treated patients were recruited and followed for 1 year. Blood samples were collected from all patients for DNA genotyping. The platelet reactivity unit was measured by the VerifyNow technique. The CYP2C19*2, CYP2C19*3, CYP2C19*17, ATP-binding cassette subfamily B member 1, ITGB3, CYP2C9*3, CYP2B6*9, and P2Y12 alleles were assessed. Results: The clinical endpoints were related to previous heart disease history (11.90% vs. 28.57%, P = 0.017), stroke (12.24% vs. 16.67%, P = 0.039), and diabetes (27.55% vs. 52.38%, P = 0.047). High on-treatment platelet reactivity (HTPR) was frequent in advanced age (P = 0.019), male gender (P = 0.016), hypertension (P = 0.033), and chronic renal failure (P = 0.040). There were more endpoints in the CYP2C19*2 and P2Y12 mutant carriers (76.19% vs. 43.20%, P < 0.001; 50.00% vs. 35.71%, P = 0.001, respectively), whereas fewer in the CYP2C19*17 mutant carriers (11.90% vs. 56.46%, P = 0.001). CYP2C19*2 and P2Y12 polymorphism manifested HTPR (194.25 ± 45.91 vs. 151.38 ± 58.14, P < 0.001; 180.33 ± 67.25 vs. 161.89 ± 56.49, P = 0.008, respectively), whereas CYP2C19*17 mutant improved platelet reactivity (97.17 ± 45.38 vs. 169.08 ± 57.15, P = 0.003). However, there were no further cardiovascular deaths in endpoint patients. Conclusion: In Han Chinese people of mainland China, clopidogrel-related gene polymorphisms are related to variable platelet reactivity after clopidogrel maintenance dosing, which influences major adverse cardiovascular events, without an effect on cardiac death. PMID:28255319

  6. GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.

    PubMed

    Zheng, Jing; Ying, Zhengbiao; Cai, Zhaoyang; Sun, Dongmei; He, Zheyun; Gao, Yinglong; Zhang, Ting; Zhu, Yi; Chen, Ye; Guan, Min-Xin

    2015-01-01

    Mutations in Gap Junction Beta 2 (GJB2) have been reported to be a major cause of non-syndromic hearing loss in many populations worldwide. The spectrums and frequencies of GJB2 variants vary substantially among different ethnic groups, and the genotypes among these populations remain poorly understood. In the present study, we carried out a systematic and extended mutational screening of GJB2 gene in 1067 Han Chinese subjects with non-syndromic hearing loss, and the resultant GJB2 variants were evaluated by phylogenetic, structural and bioinformatic analysis. A total of 25 (23 known and 2 novel) GJB2 variants were identified, including 6 frameshift mutations, 1 nonsense mutation, 16 missense mutations and 2 silent mutations. In this cohort, c.235delC is the most frequently observed pathogenic mutation. The phylogenetic, structural and bioinformatic analysis showed that 2 novel variants c.127G>T (p.V43L), c.293G>C (p.R98P) and 2 known variants c. 107T>C (p.L36P) and c.187G>T (p.V63L) are localized at highly conserved amino acids. In addition, these 4 mutations are absent in 203 healthy individuals, therefore, they are probably the most likely candidate pathogenic mutations. In addition, 66 (24 novel and 42 known) genotypes were identified, including 6 homozygotes, 20 compound heterozygotes, 18 single heterozygotes, 21 genotypes harboring only polymorphism(s) and the wild type genotype. Among these, 153 (14.34%) subjects were homozygous for pathogenic mutations, 63 (5.91%) were compound heterozygotes, and 157 (14.71%) carried single heterozygous mutation. Furthermore, 65.28% (141/216) of these cases with two pathogenic mutations exhibited profound hearing loss. These data suggested that mutations in GJB2 gene are responsible for approximately 34.96% of non-syndromic hearing loss in Han Chinese population from Zhejiang Province in eastern China. In addition, our results also strongly supported the idea that other factors such as alterations in regulatory regions

  7. Influence of polymorphisms in the Wnt/β-catenin pathway genes on hepatocellular carcinoma risk in a Chinese Han population

    PubMed Central

    Li, Qing-Min; Zhang, Feng-Qin; Li, Ya-Feng; Xian, Qing-Jie; Zhang, Yan-Qiang; Li, Peng

    2017-01-01

    Abstract The Wnt/β-catenin pathway plays a vital role in initiating and sustaining hepatocellular carcinoma (HCC). However, few studies have investigated polymorphisms in the Wnt/β-catenin signaling pathway genes in the Chinese Han population. The aim of the present retrospective study was to investigate the correlations between polymorphisms of the Wnt/β-catenin signaling pathway genes (CTNNB1 and WNT2) and HCC susceptibility, development, and progression. Twenty tagging single nucleotide polymorphisms were chosen from HapMap data and genotyped in 320 patients with HCC, 320 chronic hepatitis B virus (HBV)-infected patients without HCC (N-HCC, including 95 liver cirrhosis, 164 chronic hepatitis B, and 61 asymptomatic HBV carriers), and 320 healthy controls. Associations between polymorphisms in the 2 Wnt/β-catenin signaling pathway genes (CTNNB1 and WNT2) and HCC susceptibility, development, and progression were investigated. Genotype AA (P = 0.002, odds ratio [OR] = 2.524) and allele A (P = 0.0003, OR = 1.613) of the WNT2 rs4730775 polymorphism were associated with HCC susceptibility compared with healthy controls. Genotype GA (P = 0.001, OR = 0.567) and allele A (P = 0.002, OR = 0.652) of rs3864004, and genotype AG (P = 0.0004, OR = 0.495) and allele G (P = 0.001, OR = 0.596) of rs11564475 in the CTNNB1 gene were correlated with HCC compared with N-HCC patients. These findings were consistent in dominant and recessive models. Multidimensionality reduction analysis revealed that interactions among rs3864004, rs11564475, and rs4730775 were significantly associated with HCC compared with N-HCC patients. The polymorphism rs4135385 of CTNNB1 genotype GA was associated with a higher risk for Stage III + IV HCC (modified Union for International Cancer Control) (P = 0.001, OR = 2.238). Genetic polymorphisms in the WNT2 and CTNNB1 genes were closely associated with HCC risk and progression in a Chinese Han

  8. Association of Metabolic Factors with Symptomatic Hand Osteoarthritis in the Chinese Han Population Aged 40 Years and above

    PubMed Central

    Wang, Fei; Shi, Lei; Xue, Qing-Yun

    2016-01-01

    Background: The relationship between hand osteoarthritis (HOA) and systemic metabolic factors is unclear. The aim of this study was to investigate the prevalence of systemic metabolic factors including obesity, hypertension, diabetes mellitus, and atherosclerosis in symptomatic patients with HOA and the association between these systemic metabolic factors and symptomatic HOA in the Chinese Han population aged 40 years and above. Methods: A cross-sectional survey was conducted on Chinese Han population aged 40 years and above in six centers in China. The sociodemographic features, lifestyle of the participants, and medical history of hypertension, diabetes mellitus, and atherosclerosis were collected. The cases with hand symptoms underwent anteroposterior radiographic examination of both hands to obtain a diagnosis. The correlations between systemic metabolic factors and symptomatic HOA were analyzed using Logistic regression analysis. Results: Overweight (39.3% vs. 30.5%, P < 0.001), hypertension (34.7% vs. 18.6%, P < 0.001), diabetes mellitus (11.2% vs. 3.3%, P < 0.001), and atherosclerosis (19.8% vs. 8.3%, P < 0.001) were more prevalent in symptomatic patients with HOA than those in the population without HOA. Overweight (odds ratio [OR] = 1.35, 95% confidence interval [CI]: 1.10–1.65, P = 0.005), hypertension (OR = 1.47, 95% CI: 1.18–1.83, P < 0.001), and diabetes mellitus (OR = 2.45, 95% CI: 1.74–3.45, P < 0.001) were associated with a higher prevalence of symptomatic HOA and the OR of symptomatic HOA significantly increased with the accumulated number of the three metabolic factors. Symptomatic HOA was associated with a higher prevalence of atherosclerosis (OR = 1.39, 95% CI: 1.05–1.85, P = 0.023). Conclusions: Overweight, hypertension, and diabetes mellitus were associated with a higher prevalence of HOA, showing cumulative effects. Atherosclerosis risk should be assessed in patients with HOA. PMID:27647188

  9. Genetic polymorphism in hOGG1 is associated with triple-negative breast cancer risk in Chinese Han women.

    PubMed

    Xie, Hui; Xia, Kai; Rong, Hui; Chen, Xiaoxiang

    2013-10-01

    8-hydroxy-2'-deoxyguanine (8-OHdG), a typical product of oxidative stress-induced DNA damage, can cause a G-T transversion during DNA replication if it is not removed. Human 8-oxoguanine glycosylase 1 (hOGG1), a key DNA repair gene, recognizes and excises 8-OHdG from damaged DNA accurately; however, a c.977C>G (Ser326Cys) polymorphism in hOGG1 can inhibit the gene's ability to remove 8-OHdG. The aim of present study was to investigate the association between the c.977C>G polymorphism in hOGG1 and the risk of breast cancer in Chinese Han women. We used high-resolution melting and sequencing to analyze the genotypes of 630 patients with sporadic breast cancer patients and 777 healthy controls. We also performed risk-stratified subgroup analyses to determine the association between the c.977C>G polymorphism and other characteristics of breast cancer subgroups. Breast cancer patients and healthy controls did not have significantly different of c.977C/G genotypes (odds ratio [OR] = 1.10, 95% confidence interval [CI] = 0.82-1.49, p = 0.57) and c.977G/G genotypes (OR = 1.34, 95% CI = 0.97-1.84, p = 0.09). However, the c.977G/G genotype was especially prevalent in breast cancer patients who were younger than 55 years (OR = 1.58, 95% CI = 1.05-2.39, p = 0.04), were premenopausal status (OR = 1.87, 95% CI = 1.14-3.06, p = 0.02), had triple-negative disease (OR = 2.14, 95% CI = 1.06-4.29, p = 0.04), or p53-positive disease (OR = 1.56, 95% CI = 1.14-2.12, p = 0.005). These findings suggest that the c.977C>G polymorphism in hOGG1 is associated with an increased risk of breast cancer in Chinese Han women who are younger than 55 years, premenopausal, triple-negative, or p53-positive subgroups.

  10. Validation of Type 2 Diabetes Risk Variants Identified by Genome-Wide Association Studies in Northern Han Chinese

    PubMed Central

    Rao, Ping; Zhou, Yong; Ge, Si-Qi; Wang, An-Xin; Yu, Xin-Wei; Alzain, Mohamed Ali; Veronica, Andrea Katherine; Qiu, Jing; Song, Man-Shu; Zhang, Jie; Wang, Hao; Fang, Hong-Hong; Gao, Qing; Wang, You-Xin; Wang, Wei

    2016-01-01

    Background: More than 60 genetic susceptibility loci associated with type 2 diabetes mellitus (T2DM) have been established in populations of Asian and European ancestry. Given ethnic differences and environmental factors, validation of the effects of genetic risk variants with reported associations identified by Genome-Wide Association Studies (GWASs) is essential. The study aims at evaluating the associations of T2DM with 29 single nucleotide polymorphisms (SNPs) from 19 candidate genes derived from GWASs in a northern Han Chinese population. Method: In this case-control study, 461 T2DM-diagnosed patients and 434 controls were recruited at the Jidong oil field hospital (Hebei, China) from January 2009 to October 2013. A cumulative genetic risk score (cGRS) was calculated by summation of the number of risk alleles, and a weight GRS (wGRS) was calculated as the sum of risk alleles at each locus multiplied by their effect sizes for T2DM, using the independent variants selected. Result: The allelic frequency of the “A” allele at rs17106184 (Fas-associated factor 1, FAF1) was significantly higher in the T2DM patients than that of the healthy controls (11.7% vs. 6.4%, p < 0.001). Individuals in the highestquartile of wGRS had an over three-fold increased risk for developing T2DM compared with those in the lowest quartile (odds ratio = 3.06, 95% CI = 1.92–4.88, p < 0.001) adjusted for age, sex, BMI, total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), systolic blood pressure (SBP) and diastolic blood pressure (DBP). The results were similar when analyzed with the cGRS. Conclusions: We confirmed the association between rs17106184 (FAF1) and T2DM in a northern Han Chinese population. The GRS calculated based on T2DM susceptibility variants may be a useful tool for predicting the T2DM susceptibility. PMID:27589775

  11. The NVL gene confers risk for both major depressive disorder and schizophrenia in the Han Chinese population.

    PubMed

    Wang, Meng; Chen, Jianhua; He, Kuanjun; Wang, Qingzhong; Li, Zhiqiang; Shen, Jiawei; Wen, Zujia; Song, Zhijian; Xu, Yifeng; Shi, Yongyong

    2015-10-01

    NVL (nuclear VCP (valosin containing protein)/p97-Like), a member of the AAA-ATPase (ATPases associated with various cellular activities) family, encodes a novel hTERT (human telomerase reverse transcriptase)-interacting protein NVL2 which is a telomerase component essential for holoenzyme assembly. Previous researches have reported the impacts of telomerase activity on mental illness and the potential association between NVL and major depressive disorder. To validate the susceptibility of NVL to major depressive disorder, and to investigate the overlapping risk conferred by NVL for both major depressive disorder and schizophrenia, we analyzed 9 tag single nucleotide polymorphisms (tag SNPs) using TaqMan® technology, in 1045 major depressive disorder patients, 1235 schizophrenia patients and 1235 normal controls of Han Chinese origin. We found that rs10916583 (P(allele) = 0.020, P(genotype) = 0.028, OR = 1.156) and rs16846649 (adjusted P(allele) = 0.014, P(genotype) = 0.007, OR = 0.718) were associated with major depressive disorder, while rs10916583 (adjusted P(allele) = 1.08E-02, OR = 1.213), rs16846649 (adjusted P(allele) = 7.40E-06, adjusted P(genotype) = 8.07E-05, OR = 0.598) and rs10799541 (adjusted P(allele) = 8.10E-03, adjusted P(genotype) = 0.049, OR= 0.826) showed statistically significant association with schizophrenia after Bonferroni correction. Furthermore, rs10916583 (adjusted P(allele) = 9.00E-03, adjusted P(genotype) = 3.15E-02, OR = 1.187) and rs16846649 (adjusted P(allele) = 8.92E-06, adjusted P(genotype) = 8.84E-05, OR = 0.653) remained strongly associated with the analysis of combined cases of major depressive disorder and schizophrenia after Bonferroni correction. Our results indicated that the NVL gene may contain overlapping common genetic risk factors for major depressive disorder and schizophrenia in the Han Chinese population. The roles of NVL in telomerase biogenesis were also highlighted in psychiatric pathogenesis. The study on

  12. Advanced paternal age increases the risk of schizophrenia and obsessive-compulsive disorder in a Chinese Han population.

    PubMed

    Wu, Yuejing; Liu, Xiang; Luo, Hongrong; Deng, Wei; Zhao, Gaofeng; Wang, Qiang; Zhang, Lan; Ma, Xiaohong; Liu, Xiehe; Murray, Robin A; Collier, David A; Li, Tao

    2012-08-15

    Using the Structured Clinical Interview for DSM-IV, patient and non-patient version (SCID-P/NP), this study investigated 351 patients with schizophrenia, 122 with obsessive-compulsive disorder (OCD), and 238 unrelated healthy volunteers in a Chinese Han population. The relative risks posed by advanced paternal age for schizophrenia and OCD in offspring were computed under logistic regression analyses and adjusted for the participant's sex, age and co-parent age at birth. Compared to the offspring with paternal age of 25-29 years old, the relative risks rose from 2.660 to 10.183 in the paternal age range of 30-34 and ≥35. The relative risks for OCD increased from 2.225 to 5.413 in 30-34 and ≥35. For offspring with paternal age of <25, the odds ratios of developing schizophrenia and OCD were 0.628 and 0.289 respectively, whereas an association between increased maternal age and risk for schizophrenia/OCD was not seen. Interaction analysis showed an interaction effect between paternal age and maternal age at birth. Such a tendency of risk affected by parental age for schizophrenia and OCD existed after splitting out the data of early onset patients. Sex-specific analyses found that the relative risks for schizophrenia with paternal age of 30-34 and ≥35 in male offspring were 2.407 and 10.893, and in female offspring were 3.080 and 9.659. The relative risks for OCD with paternal age of 30-34 and ≥35 in male offspring were 3.493 and 7.373, and in female offspring 2.005 and 4.404. The mean paternal age of schizophrenia/OCD patients born before the early 1980s was much greater than that of patients who were born after then. The findings illustrated that advanced paternal age is associated with increased risk for both schizophrenia and OCD in a Chinese Han population, prominently when paternal age is over 35. Biological and non-biological mechanisms may both be involved in the effects of advanced paternal age on schizophrenia and OCD.

  13. Establishing a reference interval for serum anti-dsDNA antibody: A large Chinese Han population-based multi-center study

    PubMed Central

    Deng, Chuiwen; Zhang, Shulan; Hu, Chaojun; Li, Ping; Wu, Ziyan; Chen, Si; Li, Jing; Li, Liubing; Zhang, Fengchun; Li, Yongzhe

    2017-01-01

    Background A reference interval (RI) for the circulating concentration of anti-dsDNA antibody is essential for clinicians to interpret laboratory results and make clinical decisions. Therefore, we aimed to establish the RI for anti-dsDNA antibody in the Chinese Han population. Methods This study was designed and carried out in accordance with guideline C28-A3, which is proposed by the International Federation of Clinical Chemistry and the Clinical and Laboratory Standards Institute. A total of 2,880 apparently healthy individuals were enrolled using a posteriori sampling. These individuals were recruited from four hospitals, representing the Han populations of north, south, east, and west China. Serum anti-dsDNA antibody levels were measured using the three analytical systems AESKU, EUROIMMUNE, and INOVA, which are the most commonly used systems in China. Individuals were stratified by gender, age, and region, and the RIs were obtained by nonparametric methods. Results Gender-specific RIs for serum anti-dsDNA antibody in the Chinese Han population were established. Conclusion This is the first exploration of the RI for anti-dsDNA antibody in the Chinese Han population. We have established gender-specific RIs for each assay method commonly used in China. PMID:28151970

  14. Differential effect of specific gr/gr deletion subtypes on spermatogenesis in the Chinese Han population.

    PubMed

    Yang, Y; Ma, M; Li, L; Su, D; Chen, P; Ma, Y; Liu, Y; Tao, D; Lin, L; Zhang, S

    2010-10-01

    As a common variation in the azoospermia factor c (AZFc) region of Y chromosome, the gr/gr deletion is regarded as a significant risk factor for spermatogenic impairment, whereas the association of the deletion's phenotypic expression with Y-chromosomal background is still a subject of debate. To further investigate the contribution of the deletion to spermatogenic impairment in different Y-chromosomal haplogroups, the partial AZFc deletion was detected with AZFc-specific sequence tagged sites, gene dosage and gene copy analyses of deleted in azoospermia (DAZ), chromodomain Y1 (CDY1) and basic protein Y2 (BPY2) in 1426 azoo/oligozoospermic and 672 normozoospermic men from a Chinese population. The haplogrouping was performed in 231 deletion carriers with 12 polymorphic loci of Y chromosome. As a result, five gr/gr rearrangement types in eight Y haplogroups were observed, in which the simple gr/gr deletion was the most common type, and its frequency was significantly higher in men with azoo/oligozoospermia relative to normozoospermia. Also the distribution of gr/gr-rearranged Y haplogroups was significantly different between the two groups, in which gr/gr-deleted haplogroups C and DE were more common in men with azoo/oligozoospermia. In the 6 gr/gr copy deletion haplotypes, the frequencies of DAZ1/DAZ2+CDY1a or CDY1b deletion were significantly higher in men with azoo/oligozoospermia, while all DAZ3/DAZ4+CDY1b+BPY2.2 or 2.3 deletions were found only in haplogroup Q1 without any distribution difference between the azoo/oligozoospermic and normozoospermic groups. This study provided further evidence for the existence of multiple subtypes of gr/gr deletion and indicates that gr/gr-DAZ1/DAZ2 deletion is a significant risk factor. However, the association of the phenotypic variation of gr/gr deletion with Y-chromosomal haplogroups is not definite yet, because of the limited amounts of the deletions observed in each of the haplogroups and the lack of the quantitative

  15. ABO blood types associated with the risk of venous thromboembolism in Han Chinese people: A hospital-based study of 200,000 patients.

    PubMed

    Sun, Xuefeng; Feng, Jun; Wu, Wei; Peng, Min; Shi, Juhong

    2017-03-06

    ABO blood types are putatively associated with the risk of venous thromboembolism (VTE), but it is not proved in Chinese people. A large population of Han Chinese patients discharged from Peking Union Medical College Hospital between January 2010 and June 2016 were retrospectively analyzed in a case-control study. A total of 1412 VTE patients were identified from 200,660 discharged Han Chinese patients, including 600 patients with deep vein thrombosis (DVT), 441 patients with pulmonary embolism, and 371 patients with both DVT and pulmonary embolism. The prevalence of non-O blood type was weakly but statistically higher in VTE patients compared with 199,248 non-VTE patients, with an odds ratio (OR) of 1.362 (95% confidence interval [CI], 1.205-1.540). Subgroup analysis showed that the OR for non-O blood type was still increased. It was greater in pre-hospital VTE (OR = 1.464) than that in hospital-acquired VTE (OR = 1.224), and greater in unprovoked VTE (OR = 1.859) than that in provoked VTE (OR = 1.227). The OR for non-O blood type decreased with age in subgroup analysis. These results suggest a weak but statistically significant correlation between non-O blood type and risk of VTE in Han Chinese people.

  16. ABO blood types associated with the risk of venous thromboembolism in Han Chinese people: A hospital-based study of 200,000 patients

    PubMed Central

    Sun, Xuefeng; Feng, Jun; Wu, Wei; Peng, Min; Shi, Juhong

    2017-01-01

    ABO blood types are putatively associated with the risk of venous thromboembolism (VTE), but it is not proved in Chinese people. A large population of Han Chinese patients discharged from Peking Union Medical College Hospital between January 2010 and June 2016 were retrospectively analyzed in a case-control study. A total of 1412 VTE patients were identified from 200,660 discharged Han Chinese patients, including 600 patients with deep vein thrombosis (DVT), 441 patients with pulmonary embolism, and 371 patients with both DVT and pulmonary embolism. The prevalence of non-O blood type was weakly but statistically higher in VTE patients compared with 199,248 non-VTE patients, with an odds ratio (OR) of 1.362 (95% confidence interval [CI], 1.205–1.540). Subgroup analysis showed that the OR for non-O blood type was still increased. It was greater in pre-hospital VTE (OR = 1.464) than that in hospital-acquired VTE (OR = 1.224), and greater in unprovoked VTE (OR = 1.859) than that in provoked VTE (OR = 1.227). The OR for non-O blood type decreased with age in subgroup analysis. These results suggest a weak but statistically significant correlation between non-O blood type and risk of VTE in Han Chinese people. PMID:28262729

  17. Intracranial aneurysm risk factor genes: relationship with intracranial aneurysm risk in a Chinese Han population.

    PubMed

    Zhang, L T; Wei, F J; Zhao, Y; Zhang, Z; Dong, W T; Jin, Z N; Gao, F; Gao, N N; Cai, X W; Li, N X; Wei, W; Xiao, F S; Yue, S Y; Zhang, J N; Yang, S Y; Li, W D; Yang, X Y

    2015-06-18

    Few studies have examined the genes related to risk fac-tors that may contribute to intracranial aneurysms (IAs). This study in Chinese patients aimed to explore the relationship between IA and 28 gene loci, proven to be associated with risk factors for IA. We recruited 119 patients with aneurysms and 257 controls. Single factor and logistic regression models were used to analyze the association of IA and IA rup-ture with risk factors. Twenty-eight single nucleotide polymorphisms (SNPs) in 22 genes were genotyped for the patient and control groups. SNP genotypes and allele frequencies were analyzed by the chi-square test. Logistic regression analysis identified hypertension as a factor that increased IA risk (P = 1.0 x 10(-4); OR, 2.500; 95%CI, 1.573-3.972); IA was associated with two SNPs in the TSLC2A9 gene: rs7660895 (P = 0.007; OR, 1.541; 95%CI, 1.126-2.110); and in the TOX gene: rs11777927 (P = 0.013; OR, 1.511; 95%CI, 1.088-2.098). Subsequent removal of the influence of family relationship identified between 12 of 119 patients enhanced the significant association of these SNPs with IA (P = 0.001; OR, 1.691; 95%CI, 1.226-2.332; and P = 0.006; OR, 1.587; 95%CI, 1.137-2.213 for rs7660895 and rs11777927, respectively). Fur-thermore, the minor allele of rs7660895 (A) was also associated with IA rupture (P = 0.007; OR, 2.196; 95%CI, 1.230-3.921). Therefore, hypertension is an independent risk factor for IA. Importantly, the TSL-C2A9 (rs7660895) and TOX (rs11777927) gene polymorphisms may be associated with formation of IAs, and rs7660895 may be associated with IA rupture.

  18. A pilot of an intervention delivered to Chinese- and Spanish-speaking carers of people with dementia in Australia.

    PubMed

    Leone, Desiree; Carragher, Natacha; Santalucia, Yvonne; Draper, Brian; Thompson, Larry W; Shanley, Christopher; Mollina, Angelica; Chen, Langduo; Kyriazopoulos, Helena; Thompson, Dolores Gallagher

    2014-02-01

    There are limited language- and culture-specific support programs for carers of people with dementia living in Australia. A group intervention for use with Chinese and Spanish speakers in the United States was adapted to the Australian context, and a pilot study was undertaken with these 2 communities. The intervention is based on a cognitive behavioral therapy approach and was delivered by bilingual health professionals. The adapted material comprised 7 sessions, spanning 2 hours in duration. All 22 participants completed the Depression Anxiety and Stress Scale-Short form (DASS-21) pre- and postintervention. A significant decrease in depression, anxiety, and stress was observed among Spanish speakers; a significant decrease in depression and anxiety was present among the Chinese speakers. The implications are considered in the context of Australia's changing aged care service system.

  19. Study on a quantitative electroencephalography power spectrum typical of Chinese Han Alzheimer's disease patients by using wavelet transforms

    NASA Astrophysics Data System (ADS)

    Wan, Baikun; Ming, Dong; Fu, Xiaomeng; Yang, Chunmei; Qi, Hongzhi; Chen, Binjin

    2006-03-01

    Our objective was to investigate the quantitative electroencephalogram (EEG) power spectrum typical of Chinese Han ethnic Alzheimer's disease (AD) patients. A study on the resting EEG was carried out on 103 local AD (NINCDS-ADRDA criteria) patients, and 124 age-matched normal elderly subjects served as controls. A novel multi-resolution decomposition algorithm based on Daubechies wavelet transform was employed for EEG spectral analysis. This algorithm decomposed recorded EEG signals into components with five frequency subbands, which especially provided more electroneural activity details in comparison with the conventional four subbands. A significant prevalence of an EEG spectrum characterized by increased slow activity with decreased fast activity was found in these patients. Moreover, the spectral power increase/decrease was mainly centralized in the below-2 Hz/over-8 Hz band, whereas the 2-8 Hz band did not show any widespread change. In conclusion, this study may provide some evidence of specific spectral changes of EEG affected by AD in China.

  20. Genome-wide screening for risk loci of idiopathic recurrent miscarriage in a Han Chinese population: a pilot study.

    PubMed

    Li Wang; Zeng Chan Wang; Cui Xie; Xiao Feng Liu; Mao Sheng Yang

    2010-06-01

    The etiology of recurrent miscarriage (RM) is extremely heterogeneous, including genetic, immunologic, anatomic, endocrinological, and infectious anomalies. About 50% of RM is unexplained or poorly understood, which is called idiopathic recurrent miscarriage (IRM). The primary aim of this study was to identify the genetic loci that might be susceptible to IRM. Forty-four Han Chinese patients with IRM during the first trimester of their pregnancies and 44 healthy sex- and ethnic-matched controls were enrolled in this study. A case-control and genome-wide study was performed and 430 polymorphic microsatellite markers were analyzed. Three loci, 6q27 (D6S446, P = .028), 9q33.1 (D9S1776, P = .037), and Xp22.11 (DXS1226, P = .008), significantly associated with IRM were found. This work identified 3 genetic regions that might harbor genes predisposed to IRM and provided new insights for future genetic and etiological study of IRM. Further study is required to confirm it.

  1. Angiotensin-converting enzyme I/D polymorphism and the risk of thoracic aortic dissection in Chinese Han population.

    PubMed

    Jing, Quanmin; Wang, Xiaozeng; Ma, Yingyan; Yang, Ming; Huang, Guiqi; Zhao, Xin; Han, Yaling

    2013-02-01

    Thoracic aortic dissection (TAD) is a catastrophic cardiovascular disease and is thought to have a genetic basis. Various studies have indicated that renin-angiotensin system plays an important role in the pathogenesis of aortic disease. To determine the association of the I/D polymorphism of ACE gene with the risk of TAD in a Chinese Han population, a hospital-based case-control study was designed consisting of 161 subjects with TAD and 256 control subjects. The genotype frequency of the ACE I/D polymorphism was determined by using a polymerase chain reaction assay. The overall distribution of ACE I/D genotypes was significantly different between the two groups. Compared with the controls, the frequency of DD genotypes and the D allele of ACE gene were significantly increased in TAD patients. Multivariate logistic regression adjusting for conventional vascular risk factors confirmed the association between the ACE I/D polymorphism and the susceptibility to TAD (OR 2.14, 95 % CI 1.38-3.32, P = 0.001). Our data demonstrated that the ACE I/D polymorphism appeared to be an important risk factor in the development of TAD. However, further validation in large population-based studies is needed to confirm the finding.

  2. Dopamine transporter dysfunction in Han Chinese people with chronic methamphetamine dependence after a short-term abstinence.

    PubMed

    Yuan, Jie; Lv, Rongbin; Robert Brašić, James; Han, Mei; Liu, Xingdang; Wang, Yuankai; Zhang, Guangming; Liu, Congjin; Li, Yu; Deng, Yanping

    2014-01-30

    Single-photon emission-computed tomography (SPECT) after the administration of (99m)Tc-TRODAT-1 was performed on healthy subjects and subjects with methamphetamine (METH)dependence at time 1 (T1) after 24-48 h of abstinence, time 2 (T2) after 2 weeks of abstinence, and time 3 (T3) after 4 weeks of abstinence. In contrast to values in controls, the values of the striatal DAT specific uptake ratios (SURs) in subjects with METH dependence were significantly lower at T1 (n=25), T2 (n=9), and T3 (n=8); a mild increase in SURs was observed at T2 and T3, but values were still significantly lower than those in controls. In subjects with METH dependence, there was a trend for a negative correlation of striatal DAT SURs and craving for METH at T1. METH craving, anxiety and depression scores significantly decreased from T1 to T2 to T3. We conclude that Han Chinese people with METH dependence experience significant striatal DAT dysfunction, and that these changes may be mildly reversible after 4 weeks of abstinence, but that DAT levels still remain significantly lower than those in healthy subjects. The mild recovery of striatal DAT may parallel improvements in craving, anxiety and depression.

  3. Genome-wide analysis of runs of homozygosity identifies new susceptibility regions of lung cancer in Han Chinese

    PubMed Central

    Wang, Cheng; Xu, Zhengfeng; Jin, Guangfu; Hu, Zhibin; Dai, Juncheng; Ma, Hongxia; Jiang, Yue; Hu, Lingmin; Chu, Minjie; Cao, Songyu; Shen, Hongbing

    2013-01-01

    Runs of homozygosity (ROHs) are a class of important but poorly studied genomic variations and may be involved in individual susceptibility to diseases. To better understand ROH and its relationship with lung cancer, we performed a genome-wide ROH analysis of a subset of a previous genome-wide case-control study (1,473 cases and 1,962 controls) in a Han Chinese population. ROHs were classified into two classes, based on lengths, intermediate and long ROHs, to evaluate their association with lung cancer risk using existing genome-wide single nucleotide polymorphism (SNP) data. We found that the overall level of intermediate ROHs was significantly associated with a decreased risk of lung cancer (odds ratio = 0.63; 95% confidence interval: 0.51-0.77; P = 4.78×10−6 ), while the long ROHs seemed to be a risk factor of lung cancer. We also identified one ROH region at 14q23.1 that was consistently associated with lung cancer risk in the study. These results indicated that ROHs may be a new class of variation which may be associated with lung cancer risk, and genetic variants at 14q23.1 may be involved in the development of lung cancer. PMID:23720676

  4. Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family

    PubMed Central

    2014-01-01

    Background Mutations in proline-rich transmembrane protein 2 (PRRT2) are a cause of paroxysmal kinesigenic dyskinesia (PKD). In this study, we investigated the PRRT2 gene mutation in a Chinese Han family with PKD and study the pathogenesis of the mutation with PRRT2 gene. Methods Peripheral venous blood was taken from the family members. Sanger sequencing was used for novel mutation sequencing. For the pathogenesis with the novel mutation was analyzed by bioinformatics, real-time PCR, subcellular localization and Western blot. Results The Sanger sequencing showed a novel mutation, c.186-187delGC, a deletion mutation, in exon 2 of the PRRT2 gene, the frameshift mutation generated a truncated protein that was stably expressed in transfected Human embryonic kidney (HEK) 293 cells. A subcellular localization assay in COS-7 cells with GFP-tagged protein showed nuclear localization for the mutant protein while the wild-type protein was localized in membranes. Co-transfection of HEK293 cells with wild-type and mutant expression plasmids cells did not influence mRNA or protein expression from the wild-type plasmid. Conclusions Our findings demonstrated that the c.186-187delGC mutation resulted in a truncated protein from the PRRT2 gene to involve in PKD pathogenesis with haploinsufficiency. The results extend the mutation spectrum of the PRRT2 gene and provide a new example for studying the pathogenesis of the mutated PRRT2 gene. PMID:25027704

  5. Association analysis between 12 genetic variants of ten genes and personality traits in a young chinese Han population.

    PubMed

    Gong, Pingyuan; Zheng, Anyun; Zhang, Kejin; Lei, Xu; Li, Fengchao; Chen, Dongmei; Chi, Wanyu; Tong, Xueli; Zheng, Zijian; Gao, Xiaocai; Zhang, Fuchang

    2010-09-01

    Some genes involved in neurotransmission synthesis and transmission have been hypothesized to affect personality traits. To investigate the possible roles of these genes in personality traits of 16 Personality Factor Questionnaire, we performed a population-based study in a young Chinese Han cohort. In the study, we selected some functional variations in ten candidate genes (COMT, DBH, DRD(2), DRD(3), DAT, MAOA, GRM(1), GRIN2B, 5-TH(2A), and 5-TH(6)) encoding components in dopamine, glutamate, and 5-hydroxytryptamine pathways. The results showed the T102C in 5-TH(2A) was associated with X3 (emotional and quiet alertness) and B (reasoning) (F = 4.71 and 6.23; p = 0.009 and 0.002), Val158Met in COMT with E (dominance) (F = 7.01; p = 0.0009), while the variations in DBH, DRD(2), DRD(3), MAOA, GRM(1), GRIN2B, and 5-TH(6) were not associated with any of the personality traits. This finding suggests that T102C in 5-TH(2A) and Val158Met in COMT play roles in some human personality traits.

  6. Association of Polymorphisms of the Receptor for Advanced Glycation Endproducts Gene with Schizophrenia in a Han Chinese Population

    PubMed Central

    Fu, Jiawu; Zuo, Xiang; Yin, Jingwen; Luo, Xudong; Li, Zheng; Lin, Juda

    2017-01-01

    Receptor for Advanced Glycation Endproducts (RAGE) is a member of the immunoglobulin superfamily that binds diverse ligands involved in the development of inflammatory damage and diverse chronic diseases including schizophrenia. Here, three single-nucleotide polymorphisms (SNPs) (G82S, -374T/A, and -429T/C) in the RAGE gene were genotyped in 923 patients with schizophrenia and 874 healthy-matched controls in a Han Chinese population using the SNaPshot technique. Additionally, we investigated the association among aforementioned SNPs with the clinical psychotic symptoms of the patients and neurocognitive function. Our study demonstrated that the frequencies of the TC + CC genotypes and the C allele in the -429T/C polymorphism were significantly lower in the patients compared with the controls (p = 0.031 and p = 0.034, resp.). However, the significant effect disappeared when using Bonferroni correction (p = 0.093 and p = 0.102, resp.). And there were no significant differences in the genotype and allele frequencies between the patients and the controls for G82S and -374T/A polymorphisms. Additionally, the -429T/C C allele carriers had marginally higher Symbol coding scores than the subjects with the TT genotypes [p = 0.031 and p (corr) = 0.093]. Our data indicate that the RAGE -429T/C polymorphism may be associated with the susceptibility of schizophrenia. PMID:28373983

  7. Genetic polymorphisms (rs10636 and rs28366003) in metallothionein 2A increase breast cancer risk in Chinese Han population

    PubMed Central

    Wang, Xi-Jing; Kang, Hua-Feng; Jin, Tian-Bo; Zhang, Shu-Qun; Guan, Hai-Tao; Yang, Peng-Tao; Liu, Kang; Liu, Xing-Han; Xu, Peng; Zheng, Yi; Dai, Zhi-Jun

    2017-01-01

    Genetic polymorphisms of MT2A are frequently observed in many different cancers. We performed this case-control study, including 459 breast cancer (BC) patients and 549 healthy controls from Northwest China, to evaluate the associations between two common MT2A polymorphisms (rs10636 and rs28366003) and BC risk. The MT2A polymorphisms were genotyped via Sequenom MassARRAY. The individuals with the rs28366003 A/G, A/G-G/G genotypes underwent a higher risk of BC (P<0.0001). And, the minor allele G of rs28366003 was related to an increased BC risk (P<0.0001). We also found a significantly increased BC risk with rs10636 polymorphism among homozygote and recessive models (P<0.05). Further subgroup analysis by clinical characteristics of BC patients showed that Scarff, Bloom and Richardson tumor grade (SBR) 1-2 have a higher expression of the minor allele of these two MT2A loci than SBR 3. Our results indicated that the rs10636 and rs28366003 polymorphisms in MT2A increased BC risk in Northwest Chinese Han population.   PMID:28228606

  8. Estimation of stature by using the dimensions of the right hand and right foot in Han Chinese adults.

    PubMed

    Zhang, Xinghua; Wei, Yu; Zheng, Lianbin; Yu, Keli; Zhao, Dapeng; Bao, Jinping; Li, Yonglan; Lu, Shunhua; Xi, Huanjiu; Xu, Guochang; Wen, Youfeng

    2017-01-01

    The Han Chinese people are the main ethnic group in China and the largest ethnic group in the world. The dimensions of the hands and feet have been successfully used for the estimation of stature. A total of 26,927 healthy adult subjects, comprising 13,221 men and 13,706 women, were recruited. The survey samples were chosen through random cluster sampling. The mean values were significantly higher in men than those in women for all measurements (P<0.001). All the measurements showed a statistically significant correlation with stature (P<0.01). The combination of the right hand length and the right foot length was the best predictor of stature because it had the lowest standard error of estimate. The use of multiple regression equations yielded better results than did the use of linear regression equations. The accuracy of stature prediction ranged from ±4.81 to ±6.39 cm. The present study was of great importance with regards to improving the physical anthropology database of ethnic groups in China.

  9. Common variants of the PINK1 and PARL genes do not confer genetic susceptibility to schizophrenia in Han Chinese.

    PubMed

    Li, Xiao; Zhang, Wen; Zhang, Chen; Yi, Zhenghui; Zhang, Deng-Feng; Gong, Wei; Tang, Jinsong; Wang, Dong; Lu, Weihong; Chen, Xiaogang; Fang, Yiru; Yao, Yong-Gang

    2015-04-01

    Schizophrenia is a prevalent psychiatric disorder with a complex etiology. Mitochondrial dysfunction has been frequently reported in schizophrenia. Phosphatase and tension homologue-induced kinase 1 (PINK1) and presenilin-associated rhomboid-like protease (PARL) are mitochondrial proteins, and genetic variants of these two genes may confer genetic susceptibility to schizophrenia by influencing mitochondrial function. In this study, we conducted a two-stage genetic association study to test this hypothesis. We genotyped 4 PINK1 and 5 PARL genetic variants and evaluated the potential association of the 9 SNPs with schizophrenia in two independent case-control cohorts of 2510 Han Chinese individuals. No positive association of common genetic variants of the PINK1 and PARL genes with schizophrenia was identified in our samples after Bonferroni correction. Re-analysis of the newly updated Psychiatric Genetics Consortium (PGC) data sets confirmed our negative result. Intriguingly, one PINK1 SNP (rs10916832), which showed a marginally significant association in only Hunan samples (P = 0.032), is associated with the expression of a schizophrenia susceptible gene KIF17 according to the expression quantitative trait locus (eQTL) analysis. Our study indicated that common genetic variants of the PINK1 and PARL genes are unlikely to be involved in schizophrenia. Further studies are essential to characterize the role of the PINK1 and PARL genes in schizophrenia.

  10. Identification and characterization of the highly polymorphic locus D14S739 in the Han Chinese population

    PubMed Central

    Shao, Chengchen; Zhang, Yaqi; Zhou, Yueqin; Zhu, Wei; Xu, Hongmei; Liu, Zhiping; Tang, Qiqun; Shen, Yiwen; Xie, Jianhui

    2015-01-01

    Aim To systemically select and evaluate short tandem repeats (STRs) on the chromosome 14 and obtain new STR loci as expanded genotyping markers for forensic application. Methods STRs on the chromosome 14 were filtered from Tandem Repeats Database and further selected based on their positions on the chromosome, repeat patterns of the core sequences, sequence homology of the flanking regions, and suitability of flanking regions in primer design. The STR locus with the highest heterozygosity and polymorphism information content (PIC) was selected for further analysis of genetic polymorphism, forensic parameters, and the core sequence. Results Among 26 STR loci selected as candidates, D14S739 had the highest heterozygosity (0.8691) and PIC (0.8432), and showed no deviation from the Hardy-Weinberg equilibrium. 14 alleles were observed, ranging in size from 21 to 34 tetranucleotide units in the core region of (GATA)9-18 (GACA)7-12 GACG (GACA)2 GATA. Paternity testing showed no mutations. Conclusion D14S739 is a highly informative STR locus and could be a suitable genetic marker for forensic applications in the Han Chinese population. PMID:26526885

  11. Polymorphisms in the DLG3 gene is not associated with non-syndromic mental retardation in the Chinese Han population of Qin-Ba mountain.

    PubMed

    Han, Ning; Shi, Zhangyan; Zhang, Kejin; Gao, Xiaocai; Zheng, Zijian; Gong, Pingyuan; Guo, Yale; Huang, Shaoping; Zhang, Fuchang

    2011-07-01

    Discs-large-related 3 (DLG3), a member of the membrane-associated guanylate kinases (MAGUKs) protein family, playing an important role in regulating NMDA signal pathway and contributing to synaptic plasticity, may have an influence on the susceptibility of non-syndromic mental retardation (NSMR). To investigate the possible genetic contribution of DLG3 gene to the NSMR of Chinese Han population, we performed an association study of 556 subjects (118 NSMR, 116 borderline NSMR, and 322 controls in 275 males and 281 females) from Qin-Ba mountain region of Shaanxi province in the northwest of China by five common SNPs in the gene. The results showed that there was no positive association between the genetic variations of DLG3 and NSMR. In conclusion, the results of this study indicated that DLG3 did not associate with NSMR in Chinese Han population; however, further studies are needed.

  12. Smoking and Alzheimer's disease among Mongolian and Han Chinese aged 55 years and over living in the Inner Mongolia farming area of China.

    PubMed

    Zhang, Chunyu; Da, Lin; Zhao, Shigang; Wang, Desheng; Niu, Guangming; Huriletemuer

    2012-07-15

    Residents aged 55 years or older from 27 communities and two settlements in Xilingol League of Inner Mongolia were selected for participation in an Alzheimer's disease epidemiological investigation from June 2008 to June 2009, including 3 259 Mongolians and 5 887 Han Chinese. The Mongolian subjects in the Alzheimer's disease group were at age of 55 years or older (on average), and more of them were male, illiterate and/or had a history of coronary artery disease and/or diabetes compared with the Mongolian subjects in the non-Alzheimer's disease group. The Han Chinese subjects in the Alzheimer's disease group were at age of 55 years or older (on average) and more of them were women, illiterate and/or had a history of coronary artery disease, and less of them had a history of alcohol consumption compared with the non-Alzheimer's disease group. Non-conditional multivariate stepwise logistic regression identified that male gender, increasing age and having a history of diabetes and/or coronary heart disease were associated with higher odds of Alzheimer's disease among Mongolians while having an educational background was associated with lower odds (OR = 0.259, 95%CI 0.174-0.386). Among the Han Chinese subjects, male gender, increasing age and having a history of coronary heart disease and/or hypertension was associated with higher odds of Alzheimer's disease, while having an educational background was associated lower odds (OR = 0.271, 95%CI 0.192-0.381). The results also indicated that extremely heavy smoking may be a risk factor for Alzheimer's disease in Mongolian males aged over 55 years. There was no significant difference in smoking habits between the Mongolian and Han Chinese subjects with Alzheimer's disease.

  13. Association of single-nucleotide polymorphisms of CDH1 with nonsyndromic cleft lip with or without cleft palate in a northern Chinese Han population

    PubMed Central

    Song, Hongquan; Wang, Xiaotong; Yan, Jiaqun; Mi, Na; Jiao, Xiaohui; Hao, Yanru; Zhang, Wei; Gao, Yuwei

    2017-01-01

    Abstract Background: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common congenital malformation among live births, and depends on race and ethnic background. The CDH1 gene plays a vital role in orofacial development. Our research was conducted to examine the association between 3 single-nucleotide polymorphisms in the CDH1 gene and NSCL/P. Methods: Three single-nucleotide polymorphisms (rs16260, rs9929218, and rs1801552) of the CDH1 gene were genotyped using the Snapshot mini-sequencing technique in 331 patients with NSCL/P and 271 controls from the northern Chinese Han population. Results: The investigation indicated that presence of the CDH1 rs1801552 TT genotype under the assumption of a recessive model is related to the decreased risk for NSCL/P (odds ratio 0.53, 95% confidence interval 0.34–0.81, P = 0.003). The results were still significant after the Bonferroni correction for multiple comparisons. However, nonsignificant differences in rs16260 and rs9929218 were found between cases and controls. Conclusion: Our study demonstrates that the CDH1 polymorphisms were significantly associated with the risk of NSCL/P in the northern Chinese Han population. We provide further evidence regarding the role of CDH1 variations in the development of NSCL/P in a northern Chinese Han population. PMID:28151848

  14. No association of SLC6A3 and SLC6A4 gene polymorphisms with schizophrenia in the Han Chinese population.

    PubMed

    Yang, Beimeng; Huang, Xiaoye; Ruan, Liemin; Yu, Tao; Li, Xin; Jesse, Forrest Fabian; Cao, Yanfei; Li, Xingwang; Liu, Baocheng; Yang, Fengping; Lee, Yong-Seok; He, Lin; Li, Weidong; He, Guang

    2014-09-05

    The SLC6A3 and SLC6A4 genes are members of a class of neurotransmitter transporters for the release, re-uptake and recycling of neurotransmitters in synapses. SLC6A3 and SLC6A4 encode a dopamine transporter and serotonin transporter, respectively. Abnormal expression and genetic polymorphism of SLC6A3 and SLC6A4 genes may increase the risk of developing mental illness, such as schizophrenia, bipolar disorder, ADHD, and aggressive behavior in Alzheimer disease, etc. Nevertheless, association between SLC6A3, SLC6A4 genes polymorphism and schizophrenia patients have not been well studied in Han Chinese people. In this study, we examined whether single nucleotide polymorphisms (SNPs) in SLC6A3, SLC6A4 were associated with schizophrenia in Han Chinese people (893 schizophrenia patients and 611 healthy controls). No significant difference in allelic or genotypic frequency was found between schizophrenia patients and healthy controls. No positive linkage disequilibrium (LD) was detected either. No haplotypic distributions were positive. Accordingly, our study suggests that the 10 SNPs within both genes we examined do not play a major role in schizophrenia in the Han Chinese population.

  15. Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans

    PubMed Central

    He, Longxia; Pang, Xiuhong; Chen, Penghui

    2016-01-01

    Autosomal dominant nonsyndromic hearing loss (ADNSHL) is extremely heterogeneous. So far the genetic etiological contribution of the gene POU4F3 associated with ADNSHL has been rarely reported. In our previous study, a c.603_604delGG mutation in the hair cell specific gene POU4F3 has been identified as the pathogenic cause in one of the seven Chinese Han ADNSHL families. In the present study, we performed targeted next-generation sequencing of 144 known deafness genes in another nine Chinese Han ADNSHL families and identified two more novel mutations in POU4F3, p.Leu311Pro and c.120+1G>C, as the pathogenic cause. Clinical characterization of the affected individuals in these three families showed that the three POU4F3 mutations may lead to progressive hearing loss with variable ages of onset and degrees of severity. Our results suggested that mutations in POU4F3 are a relatively common cause (3/16) for ADNSHL in Chinese Hans, which should be routinely screened in such cases during genetic testing. PMID:28053790

  16. Associations between INSR and MTOR polymorphisms in type 2 diabetes mellitus and diabetic nephropathy in a Northeast Chinese Han population.

    PubMed

    Zhu, A N; Yang, X X; Sun, M Y; Zhang, Z X; Li, M

    2015-03-13

    We explored the associations of INSR and mTOR, 2 key genes in the insulin signaling pathway, and the susceptibility to type 2 diabetes mellitus and diabetic nephropathy. Three single-nucleotide polymorphisms (SNPs) (rs1799817, rs1051690, and rs2059806) in INSR and 3 SNPs (rs7211818, rs7212142, and rs9674559) in mTOR were genotyped using the Sequenom MassARRAY iPLEX platform in 89 type 2 diabetes patients without diabetic nephropathy, 134 type 2 diabetes patients with diabetic nephropathy, and 120 healthy control subjects. Statistical analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95%CI) for each SNP. Combination analyses between rs2059806 and rs7212142 were also performed using the X(2) test and logistic regression. Among these 6 SNPs, 4 (rs1799817, rs1051690, rs7211818, and rs9674559) showed no association with type 2 diabetes mellitus or diabetic nephropathy. However, rs2059806 in INSR was associated with both type 2 diabetes mellitus (P = 0.033) and type 2 diabetic nephropathy (P = 0.018). The rs7212142 polymorphism in mTOR was associated with type 2 diabetic nephropathy (P = 0.010, OR = 0.501, 95%CI = 0.288- 0.871), but showed no relationship with type 2 diabetes mellitus. Combination analysis revealed that rs2059806 and rs7212142 had a combined effect on susceptibility to type 2 diabetes mellitus and diabetic nephropathy. Our results suggest that both INSR and mTOR play a role in the predisposition of the Han Chinese population to type 2 diabetic nephropathy, but the genetic predisposition may show some differences.

  17. Association of SCN10A Polymorphisms with the Recurrence of Atrial Fibrillation after Catheter Ablation in a Chinese Han Population

    PubMed Central

    Wu, Haiqing; Xu, Juan; Chen, Songwen; Zhou, Genqing; Qi, Baozhen; Wei, Yong; Hu, En; Tang, Dongdong; Chen, Gang; Li, Hongli; Zhao, Liqun; Shi, Yongyong; Liu, Shaowen

    2017-01-01

    The nonsynonymous SCN10A single nucleotide polymorphism (SNP) rs6795970 has been reported to associate with PR interval and atrial fibrillation (AF) and in strong linkage disequilibrium (LD) with the AF-associated SNP rs6800541. In this study, we investigated whether rs6795970 polymorphisms are associated with AF recurrence after catheter ablation. A total of 502 consecutive patients with AF who underwent catheter ablation were included. AF recurrence was defined as a documented episode of any atrial arrhythmias lasting ≥30 s after a blanking period of 3 months. AF recurrence was observed between 3 and 12 months after catheter ablation in 24.5% of the patients. There was a significant difference in the allele distribution (p = 7.86 × 10−5) and genotype distribution (p = 1.42 × 10−5) of rs6795970 between the AF recurrence and no recurrence groups. In a multivariate analysis, we identified the following independent predictors of AF recurrence: the rs6795970 genotypes in an additive model (OR 0.36, 95%CI 0.22~0.60, p = 7.04 × 10−5), a history of AF ≥36 months (OR 3.57, 95%CI 2.26~5.63, p = 4.33 × 10−8) and left atrial diameter (LAD) ≥40 mm (OR 1.85, 95%CI 1.08~3.19, p = 0.026). These data suggest that genetic variation in SCN10A may play an important role in predicting AF recurrence after catheter ablation in the Chinese Han population. PMID:28281580

  18. Evidence for Association of Cell Adhesion Molecules Pathway and NLGN1 Polymorphisms with Schizophrenia in Chinese Han Population

    PubMed Central

    Jiang, Sisi; Liao, Jinmin; Lu, Tianlan; Wang, Lifang; Zhang, Dai; Yue, Weihua

    2015-01-01

    Multiple risk variants of schizophrenia have been identified by Genome-wide association studies (GWAS). As a complement for GWAS, previous pathway-based analysis has indicated that cell adhesion molecules (CAMs) pathway might be involved in the pathogenesis of schizophrenia. However, less replication studies have been reported. Our objective was to investigate the association between CAMs pathway and schizophrenia in the Chinese Han population. We first performed a pathway analysis utilizing our previous GWAS data. The CAMs pathway (hsa04514) was significantly associated with schizophrenia using hybrid gene set-based test (P = 1.03×10−10) and hypergeometric test (P = 5.04×10−6). Moreover, 12 genes (HLA-A, HLA-C, HLA-DOB, HLA-DPB1, HLA-DQA2, HLA-DRB1, MPZ, CD276, NLGN1, NRCAM, CLDN1 and ICAM3) were modestly significantly associated with schizophrenia (P<0.01). Then, we selected one promising gene neuroligin 1 (NLGN1) to further investigate the association between eight significant SNPs and schizophrenia in an independent sample (1814 schizophrenia cases and 1487 healthy controls). Our study showed that seven SNPs of NLGN1 and two haplotype blocks were significantly associated with schizophrenia. This association was confirmed by the results of combined analysis. Among them, SNP rs9835385 had the most significant association with schizophrenia (P = 2.83×10−7). Furthermore, in silico analysis we demonstrated that NLGN1 is preferentially expressed in human brain and SNP rs1488547 was related to the expression level. We validated the association of CAMs pathway with schizophrenia in pathway-level and identified one susceptibility gene NLGN1. Further investigation of the roles of CAMs pathway in the pathogenesis of schizophrenia is warranted. PMID:26674772

  19. FAS Gene Copy Numbers are Associated with Susceptibility to Behçet Disease and VKH Syndrome in Han Chinese.

    PubMed

    Yu, Hongsong; Luo, Le; Wu, Lili; Zheng, Minming; Zhang, Lijun; Liu, Yunjia; Li, Hua; Cao, Qingfeng; Kijlstra, Aize; Yang, Peizeng

    2015-11-01

    Previous studies have identified that disturbed apoptosis was involved in the pathogenesis of Behçet disease (BD) and Vogt-Koyanagi-Harada (VKH) syndrome. This study aims to investigate whether copy number variations of apoptosis-related genes, including FAS, CASPASE8, CASPASE3, and BCL2, are associated with BD and VKH syndrome in Han Chinese. A two-stage association study was performed in 1,014 BD patients, 1,051 VKH syndrome patients, and 2,076 healthy controls. TaqMan(®) Copy Number Assays and real-time PCR were performed. The first-stage study showed that increased frequency of high FAS copy number (>2) was found in BD (P = 1.05 × 10(-3) ) and VKH syndrome (P = 2.56 × 10(-3) ). Replication and combined study confirmed the association of high copy number (>2) of FAS with BD (P = 3.35 × 10(-8) ) and VKH syndrome (P = 9.77 × 10(-8) ). A significant upregulated mRNA expression of FAS was observed in anti-CD3/CD28 antibodies-stimulated CD4(+) T cells from individuals carrying a high gene copy number (>2) as compared to normal diploid 2 copy number carriers (P = 0.004). Moreover, the mRNA expression of FAS both in active patients with BD and VKH syndrome was significantly higher than that in controls (P = 0.001 and P = 0.007, respectively). Our findings suggest that a high copy number of FAS gene confers risk for BD and VKH syndrome.

  20. Correlation of IL-27 genetic polymorphisms with the risk and survival of cervical cancer in a Chinese Han population.

    PubMed

    Shi, Jian; Yuan, Meng; Liu, Shuang; Duan, Xiaoyang; Chen, Juan

    2016-05-01

    Interleukin-27 (IL-27) has been recognized as a pleiotropic cytokine with both pro- and anti-inflammatory properties. However, there are no data about the role of IL-27 polymorphism in the development of cervical cancer. A hospital-based case-control study was conducted in 380 patients with cervical cancer and 380 healthy controls to investigate the possible associations of IL-27 gene polymorphisms (-964A/G, 2905T/G, and 4730T/C), with susceptibility to cervical cancer and clinical outcome. Our results suggested that the IL-27 2905T/G was significantly associated with a decreased risk of cervical cancer (TG vs. TT, odds ratio (OR) = 0.77; 95 % confidence interval (CI) = 0.60-0.86; GG vs. TT, OR = 0.95; 95 % CI = 0.72-0.96; TG+GG vs. TT, OR = 0.87; 95 % CI = 0.65-0.94). However, the genotype and allele frequencies of IL-27 (-964A/G and 4730T/C) polymorphisms in cervical cancer patients were not significantly different from controls. Further analysis showed IL-27 2905T/G genotypes were associated with advanced tumor stages of cervical cancer patients. More interestingly, the IL-27 2905T/G genotypes were statistically significantly associated with the survival in cervical cancer patients. Our results showed that the IL-27 2905T/G genotypes were associated with decreased susceptibility and development of cervical cancer in Chinese Han population.

  1. A pharmacogenetic study of risperidone on histamine H3 receptor gene (HRH3) in Chinese Han schizophrenia patients.

    PubMed

    Wei, Zhiyun; Wang, Lei; Zhang, Mengmeng; Xuan, Jiekun; Wang, Yang; Liu, Baocheng; Shao, Liyan; Li, Jun; Zeng, Zhen; Li, Tao; Liu, Jie; Wang, Ti; Zhang, Ming; Qin, Shengying; Xu, Yifeng; Feng, Guoyin; He, Lin; Xing, Qinghe

    2012-06-01

    Evidence suggests that the human histamine H3 receptor (HRH3) may be involved in the pharmacodynamics of risperidone and influence clinical efficacy. More information on the pharmacogenetics of this receptor may therefore be useful in developing individualized therapy. However, to our knowledge, no study has been reported in this area. The aim of this investigation was to clarify whether H3 receptor polymorphism could affect risperidone efficacy. We genotyped tag single nucleotide polymorphisms (SNPs) of the HRH3 gene (rs3787429 and rs3787430) and analyzed their association with the reduction of Brief Psychiatric Rating Scale (BPRS) score in Chinese Han schizophrenia patients (N = 129), following an eight-week period of risperidone monotherapy. The confounding effects of non-genetic factors were estimated, and then the significant one was included as the covariate for adjustment in statistical analysis. Baseline symptom score was the only significant confounding effect and thus the covariate. After adjustment, significant association of HRH3 with antipsychotic efficacy was detected (for rs3787429, p = 0.013, 0.087 after 4 weeks and 8 weeks of treatment, respectively; for rs3787430, p = 0.024, 0.010 after 4 weeks and 8 weeks of treatment, respectively) and stood up to conservative Bonferroni correction. Our results demonstrate that polymorphism of the HRH3 gene may be a potential genetic marker for predicting the therapeutic effect of risperidone, and suggest novel pharmacological links between HRH3 and risperidone. Further studies with larger samples and different ethnic populations are warranted to confirm our results.

  2. Polymorphisms in TCF7L2 gene are associated with gestational diabetes mellitus in Chinese Han population.

    PubMed

    Ye, Dan; Fei, Yang; Ling, Qi; Xu, Weiwei; Zhang, Zhe; Shu, Jing; Li, Chengjiang; Dong, Fengqin

    2016-07-28

    This study aimed to investigate the possible association between diabetes susceptibility gene transcription factor 7-like 2 (TCF7L2) and gestational diabetes mellitus (GDM) in a Chinese Han population. A total of 556 GDM patients and 500 Non-GDM were included. Eighteen single nucleotide polymorphisms (SNPs) were evaluated. Fifteen tag SNPs were selected from HapMap CHB database with a minor allele frequency of >0.2 and r(2) of >0.8. Three additional SNPs were also chosen because these SNPs are associated with type 2 diabetes in East Asians. TCF7L2 rs290487, rs6585194, and rs7094463 polymorphisms were found to be significantly associated with GDM. In multivariate analysis, rs290487 genetic variation (OR = 2.686 per each C allele, P = 0.002), pre-BMI > 24 kg/m(2) (OR = 1.592, P = 0.018), age > 25 years (OR = 1.780, P = 0.012) and LDL-C > 3.6 mmol/L (OR = 2.034, P = 0.009) were identified as independent risk factors of GDM, rs7094463 genetic variation (OR = 0.429 per each G allele, P = 0.005) was identified as independent protect factor of GDM. This finding suggests that TCF7L2 rs290487, and rs7094463 were a potential clinical value for the prediction of GDM.

  3. Association analysis revealed one susceptibility locus for vitiligo with immune-related diseases in the Chinese Han population.

    PubMed

    Li, Shu; Yao, Weiyi; Pan, Qian; Tang, Xianfa; Zhao, Suli; Wang, Wenjun; Zhu, Zhengwei; Gao, Jinping; Sheng, Yujun; Zhou, Fusheng; Zheng, Xiaodong; Zuo, Xianbo; Sun, Liangdan; Zhang, Anping

    2015-07-01

    Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other immune-related diseases. However, there is no reported study on the associations between immune susceptibility polymorphisms and the risk of vitiligo with immune-related diseases. The aim of this study was to evaluate the potential influence of 10 single-nucleotide polymorphisms (SNPs) at 18q21.31 (rs10503019), 4p16.1 (rs11940117), 3q28 (rs1464510), 14q12 (rs2273844), 12q13.2 (rs2456973), 16q12.2 (rs3213758), 10q25.3 (rs4353229), 3q13.33 (rs59374417), and 10p15.1 (rs706779 and rs7090530) on vitiligo with immune-related diseases in the Chinese Han population. All SNPs were genotyped in 552 patients with vitiligo-associated immune-related diseases and 1656 controls using the Sequenom MassArray system. Data were analyzed with PLINK 1.07 software. The C allele of rs2456973 at 12q13.2 was observed to be significantly associated with vitiligo-associated immune-related diseases (autoimmune diseases and allergic diseases) (P = 0.0028, odds ratio (OR) = 1.27). In subphenotype analysis, the rs2456973 C allele was also significantly associated with early-onset vitiligo by comparing with controls (P = 0.0001) and in the case-only analysis (P = 0.0114). We confirmed that 12q13.2 was an important candidate locus for vitiligo with immune-related diseases (autoimmune diseases and allergic diseases) and affected disease phenotypes with early onset.

  4. Association of SCN10A Polymorphisms with the Recurrence of Atrial Fibrillation after Catheter Ablation in a Chinese Han Population.

    PubMed

    Wu, Haiqing; Xu, Juan; Chen, Songwen; Zhou, Genqing; Qi, Baozhen; Wei, Yong; Hu, En; Tang, Dongdong; Chen, Gang; Li, Hongli; Zhao, Liqun; Shi, Yongyong; Liu, Shaowen

    2017-03-10

    The nonsynonymous SCN10A single nucleotide polymorphism (SNP) rs6795970 has been reported to associate with PR interval and atrial fibrillation (AF) and in strong linkage disequilibrium (LD) with the AF-associated SNP rs6800541. In this study, we investigated whether rs6795970 polymorphisms are associated with AF recurrence after catheter ablation. A total of 502 consecutive patients with AF who underwent catheter ablation were included. AF recurrence was defined as a documented episode of any atrial arrhythmias lasting ≥30 s after a blanking period of 3 months. AF recurrence was observed between 3 and 12 months after catheter ablation in 24.5% of the patients. There was a significant difference in the allele distribution (p = 7.86 × 10(-5)) and genotype distribution (p = 1.42 × 10(-5)) of rs6795970 between the AF recurrence and no recurrence groups. In a multivariate analysis, we identified the following independent predictors of AF recurrence: the rs6795970 genotypes in an additive model (OR 0.36, 95%CI 0.22~0.60, p = 7.04 × 10(-5)), a history of AF ≥36 months (OR 3.57, 95%CI 2.26~5.63, p = 4.33 × 10(-8)) and left atrial diameter (LAD) ≥40 mm (OR 1.85, 95%CI 1.08~3.19, p = 0.026). These data suggest that genetic variation in SCN10A may play an important role in predicting AF recurrence after catheter ablation in the Chinese Han population.

  5. Associations between serum hepcidin, ferritin and Hb concentrations and type 2 diabetes risks in a Han Chinese population.

    PubMed

    Guo, Xin; Zhou, Daizhan; An, Peng; Wu, Qian; Wang, Hao; Wu, Aimin; Mu, Mingdao; Zhang, Di; Zhang, Zhou; Wang, Hui; He, Lin; Liu, Yun; Wang, Fudi

    2013-12-01

    Systemic Fe overload can contribute to abnormal glucose metabolism and the onset of type 2 diabetes (T2D). Although hepcidin is the master regulator of systemic Fe homeostasis, few studies have systematically evaluated the associations of serum hepcidin concentrations with Fe metabolism parameters and risks for the development of T2D. In this regard, whether hepcidin concentrations are associated with T2D remains controversial. We measured serum hepcidin and ferritin concentrations in a case-control study of 1259 Han Chinese participants to evaluate the possible associations of serum hepcidin concentrations with Fe metabolism parameters and risks of T2D. Individuals with diabetes (n 555) and control participants (n 704) were recruited and serum hepcidin and ferritin concentrations were quantified. Additionally, selected biochemical and anthropometric variables were determined. A logistic regression analysis was performed to evaluate the association of serum hepcidin and ferritin concentrations with T2D. A linear regression analysis was used to test for associations between serum hepcidin and ferritin concentrations and a number of clinical, demographic and diabetes-associated variables. We found that serum hepcidin concentrations correlated with Hb and serum ferritin concentrations. No differences in hepcidin concentrations were found between the group with diabetes and the control group. Hepcidin concentrations were not significantly correlated with T2D risk factors. We also found that serum ferritin concentrations were elevated in individuals with diabetes and were positively correlated with both Hb concentrations and T2D risk factors. The present findings suggest that serum ferritin concentrations correlate with T2D risk factors, while serum hepcidin concentrations are positively associated with Hb and serum ferritin concentrations, but do not correlate with T2D.

  6. Developed and evaluated a multiplex mRNA profiling system for body fluid identification in Chinese Han population.

    PubMed

    Song, Feng; Luo, Haibo; Hou, Yiping

    2015-10-01

    In forensic casework, identification the cellular origin from a biological sample is crucial to the case investigation and reconstruction in crime scene. DNA/RNA co-extraction for STR typing and human body fluids identification has been proposed as an efficient and comprehensive assay for forensic analysis. Several cell-specific messenger RNA (mRNA) markers for identification of the body fluids have been proposed by previous studies. In this study, a novel multiplex mRNA profiling system included 19 markers was developed and performed by reverse transcription endpoint polymerase chain reaction (RT-PCR). The multiplex combined 3 housekeeping gene markers and 16 cell-specific markers that have been used to identify five types of human body fluids: peripheral blood, semen, saliva, vaginal secretions and menstrual blood. The specificity, sensitivity, stability and detectability of the mixture were explored in our study. Majority of the cell-specific mRNA markers showed high specificity, although cross-reactivity was observed sporadically. Specific profiling for per body fluid was obtained. Moreover, the interpretation guidelines for inference of body fluid types were performed according to the A. Lindenbergh et al. The scoring guidelines can be applied to any RNA multiplex, which was based on six different scoring categories (observed, observed and fits, sporadically observed and fits, not observed, sporadically observed, not reliable, and non-specific due to high input). The simultaneous extraction of DNA showed positive full or partial profiling results of all samples. It demonstrated that the approach of combined STR-profiling and RNA profiling was suitable and reliable to detect the donor and origin of human body fluids in Chinese Han population.

  7. Lack of association between HLA-G 14-bp polymorphism and systemic lupus erythematosus in a Han Chinese population.

    PubMed

    Wu, F-X; Wu, L-J; Luo, X-Y; Tang, Z; Yang, M-H; Xie, C-M; Liu, N-T; Zhou, J-G; Guan, J-L; Yuan, G-H

    2009-12-01

    HLA-G is a non-classical HLA-class Ib molecule with multiple immunoregulatory properties. A 14-bp insertion/deletion polymorphism in the HLA-G gene has been suggested to influence the expression of HLA-G and to associate with certain pathological conditions, including autoimmune diseases. We investigated the influence of the 14-bp insertion/deletion polymorphism in the HLA-G gene on disease susceptibility in systemic lupus erythematosus by genotyping this polymorphism in 231 patients with systemic lupus erythematosus and 367 healthy controls and analyzing the levels of soluble HLA-G in a subset of patients with systemic lupus erythematosus and healthy subjects from a Han Chinese population. No statistically significant differences were observed in the frequencies of the 14-bp insertion/deletion HLA-G alleles or genotypes between controls and patients with systemic lupus erythematosus. However, a significant increased expression of soluble HLA-G was noted in patients with systemic lupus erythematosus (mean value = 230.2 U/ml vs 118.3 U/ml in controls, p = 0.0001). Moreover, patients with high levels of soluble HLA-G presented with higher disease activity and had more neurological involvement. Our results do not support the HLA-G 14-bp insertion/deletion polymorphism as a genetic factor influencing systemic lupus erythematosus susceptibility. It is possible that the expression of soluble HLA-G in systemic lupus erythematosus is enhanced as part of a mechanism to try to restore the tolerance process towards auto-antigens and to counteract inflammation. However, the participation of this molecule in the pathological process of the disease also could not be excluded.

  8. A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.

    PubMed

    Li, Huaixing; Gan, Wei; Lu, Ling; Dong, Xiao; Han, Xueyao; Hu, Cheng; Yang, Zhen; Sun, Liang; Bao, Wei; Li, Pengtao; He, Meian; Sun, Liangdan; Wang, Yiqin; Zhu, Jingwen; Ning, Qianqian; Tang, Yong; Zhang, Rong; Wen, Jie; Wang, Di; Zhu, Xilin; Guo, Kunquan; Zuo, Xianbo; Guo, Xiaohui; Yang, Handong; Zhou, Xianghai; Zhang, Xuejun; Qi, Lu; Loos, Ruth J F; Hu, Frank B; Wu, Tangchun; Liu, Ying; Liu, Liegang; Yang, Ze; Hu, Renming; Jia, Weiping; Ji, Linong; Li, Yixue; Lin, Xu

    2013-01-01

    Substantial progress has been made in identification of type 2 diabetes (T2D) risk loci in the past few years, but our understanding of the genetic basis of T2D in ethnically diverse populations remains limited. We performed a genome-wide association study and a replication study in Chinese Hans comprising 8,569 T2D case subjects and 8,923 control subjects in total, from which 10 single nucleotide polymorphisms were selected for further follow-up in a de novo replication sample of 3,410 T2D case and 3,412 control subjects and an in silico replication sample of 6,952 T2D case and 11,865 control subjects. Besides confirming seven established T2D loci (CDKAL1, CDKN2A/B, KCNQ1, CDC123, GLIS3, HNF1B, and DUSP9) at genome-wide significance, we identified two novel T2D loci, including G-protein-coupled receptor kinase 5 (GRK5) (rs10886471: P = 7.1 × 10(-9)) and RASGRP1 (rs7403531: P = 3.9 × 10(-9)), of which the association signal at GRK5 seems to be specific to East Asians. In nondiabetic individuals, the T2D risk-increasing allele of RASGRP1-rs7403531 was also associated with higher HbA(1c) and lower homeostasis model assessment of β-cell function (P = 0.03 and 0.0209, respectively), whereas the T2D risk-increasing allele of GRK5-rs10886471 was also associated with higher fasting insulin (P = 0.0169) but not with fasting glucose. Our findings not only provide new insights into the pathophysiology of T2D, but may also shed light on the ethnic differences in T2D susceptibility.

  9. Very high penetrance and occurrence of Leber’s hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation

    PubMed Central

    Zhou, Xiangtian; Zhang, Hongxing; Zhao, Fuxin; Ji, Yanchun; Tong, Yi; Zhang, Juanjuan; Zhang, Yu; Yang, Li; Qian, Yaping; Lu, Fan; Qu, Jia; Guan, Min-Xin

    2010-01-01

    We report here the clinical, genetics and molecular characterization of a five-generation Han Chinese family with Leber’s hereditary optic neuropathy (LHON). Strikingly, this family exhibits very high penetrance and occurrence of optic neuropathy. In particular, twenty-five (10 males/15 females) of 30 matrilineal relatives exhibited the variable severity, ranging from profound to mild of visual impairment. This penetrance of optic neuropathy in this Chinese family is much higher than those in many families with LHON worldwide. The age-at-onset for visual impairment in matrilineal relatives in this Chinese family varied from 7 to 24 years old, with the average of 15 years old. Furthermore, the ratio between affected male and female matrilineal relatives is 1:1.5 in the Chinese family. This observation is in contrast with the typical features in LHON pedigrees that there was predominance of affected males in LHON in many families from different ethnic origins. Molecular analysis of mitochondrial genome identified the known ND4 G11778A mutation and 51 variants, belonging to Asian haplogroup C4a1. The absence of other known secondary LHON-associated and functionally significant mtDNA mutations in this Chinese family suggested that mitochondrial variants may not play an important role in the phenotypic manifestation of the G11778A mutation in this Chinese family. Therefore, nuclear modifier gene(s) may be responsible for very high penetrance and occurrence of optic neuropathy in this Chinese pedigree. PMID:20627642

  10. Homocysteine and the C677T Gene Polymorphism of Its Key Metabolic Enzyme MTHFR Are Risk Factors of Early Renal Damage in Hypertension in a Chinese Han Population

    PubMed Central

    Yun, Lin; Xu, Rui; Li, Guohua; Yao, Yucai; Li, Jiamin; Cong, Dehong; Xu, Xingshun; Zhang, Lihua

    2015-01-01

    Abstract The combined hyperhomocysteinemia condition is a feature of the Chinese hypertensive population. This study used the case-control method to investigate the association between plasma homocysteine and the C677T gene polymorphism of its key metabolic enzyme, 5, 10-methylenetetrahydrofolate reductase (MTHFR), and early renal damage in a hypertensive Chinese Han population. A total of 379 adult essential hypertensive patients were selected as the study subjects. The personal information, clinical indicators, and the C677T gene polymorphism of MTHFR were texted. This study used the urine microalbumin/urine creatinine ratio (UACR) as a grouping basis: the hypertension without renal damage group (NRD group) and the hypertension combined with early renal damage group (ERD group). Early renal damage in the Chinese hypertensive population was associated with body weight, systolic pressure, diastolic pressure, urea nitrogen, serum creatinine, cystatin C, uric acid, aldosterone, and glomerular filtration rate. The homocysteine level and the UACR in the TT genotype group were higher than those in the CC genotype group. The binary logistic regression analysis results showed that after sex and age were adjusted, the MTHFR C677T gene polymorphism was correlated with early renal damage in hypertension in both the recessive model and in the additive model. Plasma homocysteine and the C677T gene polymorphism of its key metabolic enzyme MTHFR might be independent risk factors of early renal damage in the hypertensive Chinese Han population. PMID:26717388

  11. A Case-Control Study of the Relationship Between SLC22A3-LPAL2-LPA Gene Cluster Polymorphism and Coronary Artery Disease in the Han Chinese Population

    PubMed Central

    Song, Zi-Kai; Cao, Hong-Yan; Wu, Hai-Di; Zhou, Li-Ting; Qin, Ling

    2016-01-01

    Background Mutations in the solute carrier family 22 member 3 (SLC22A3), lipoprotein (a)-like 2 (LPAL2), and the lipoprotein (a) (LPA) gene cluster, which encodes apolipoprotein (a) [apo (a)] of the lipoprotein (a) [Lp (a)] lipoprotein particle, have been suggested to contribute to the risk of coronary artery disease (CAD), but the precise variants of this gene cluster have not yet been identified in Chinese populations. Objectives We sought to investigate the association between SLC22A3-LPAL2-LPA gene cluster polymorphisms and the risk of CAD in the Han Chinese population. Patients and Methods We recruited 551 CAD patients and 544 healthy controls for this case-control study. Four SNPs (rs9346816, rs2221750, rs3127596, and rs9364559) were genotyped in real time using the MassARRAY system (Sequenom; USA) in the SLC22A3-LPAL2-LPA gene cluster. All subjects were Chinese and of Han descent, and were recruited from the First Hospital of Jilin University based on convenience sampling from June 2009 to September 2012. Results The frequency of the minor allele G (34.8%) in rs9364559 was significantly higher in the CAD patients than in the healthy controls (29.4%) (P = 0.006). There was genotypic association between rs9364559 and CAD (P = 0.022), and these results still remained significant after adjustment for the conventional CAD risk factors through forward logistic regression analysis (P = 0.020, P = 0.019). Haplotype analyses from different blocks indicated that 11 haplotypes were associated with the risk of CAD. Seven haplotypes were associated with a reduced risk of CAD, whereas four haplotypes were associated with an increased risk of CAD. Conclusions Rs9364559 in the LPA gene may contribute to the risk of CAD in the Han Chinese population; haplotypes which contain rs9346816-G were all associated with an increased risk of CAD in this study. PMID:27621937

  12. Association Between Dentin Matrix Protein 1 (rs10019009) Polymorphism and Ankylosing Spondylitis in a Chinese Han Population from Shandong Province

    PubMed Central

    Liu, Jian-Min; Cui, Ya-Zhou; Zhang, Geng-Lin; Zhou, Xiao-Yan; Pang, Jing-Xiang; Wang, Xue-Zheng; Han, Jin-Xiang

    2016-01-01

    Background: Ankylosing spondylitis (AS) is the most common rheumatic condition that is slowly progressive and predominantly affects adolescents. Pathological bone formation associated with AS is an important cause of disability. The aim of the study was to investigate the possible involvement of the genes related to endochondral ossification and ectopia ossification in genetic susceptibility to AS in a Chinese Han population. Methods: Sixty-eight single nucleotide polymorphisms (SNPs) from 13 genes were genotyped in discovery cohorts including 300 AS patients and 180 healthy controls. The rs10019009 in dentin matrix protein 1 (DMP1) gene shown as association with AS after multiple testing corrections in discovery cohorts was replicated in a validation independent cohort of 620 AS patients and 683 healthy controls. The rs10019009 was assessed with bioinformatics including phylogenetic context, F-SNP and FastSNP functional predictions, secondary structure prediction, and molecular modeling. We performed a functional analysis of rs10019009 via reverse transcription-polymerase chain reaction, alkaline phosphatase (ALP) activity in human osteosarcoma U2OS cells. Results: Interestingly, the SNP rs10019009 was associated with AS in both the discovery cohort (P = 0.0012) and validation cohort (P = 0.0349), as well as overall (P = 0.0004) in genetic case–control association analysis. After a multivariate logistic regression analysis, the effect of this genetic variant was observed to be independent of linkage disequilibrium. Via bioinformatics analysis, it was found that the amino acid change of the rs10019009 led to changes of SNP function, secondary structure, tertiary conformation, and splice mode. Finally, functional analysis of rs10019009 in U2OS cells demonstrated that the risk T allele of the rs10019009 increased enzymatic activity of ALP, compared to that of the nonrisk allele (P = 0.0080). Conclusions: These results suggested that the DMP1 gene seems to be

  13. Genetic susceptibility of eight nonsynonymous polymorphisms in HLA-DRB1 gene to hepatocellular carcinoma in Han Chinese

    PubMed Central

    Shi, Yanhui; Zhai, Weiyu; Wang, Bin; Zhao, Dongmei; Jin, He; Wang, Yuefei; Zhang, Jidong; An, Hongjun; Fu, Zhongze; Zhao, Kun; Lu, Changzhu

    2016-01-01

    Backgrounds and Objective Mounting evidence suggests that human leukocyte antigen (HLA) plays a central role in anti-virus and tumor defense. To test whether genetic variation in HLA-DRB1 gene, a key component of HLA system, can predict its predisposition to hepatocellular carcinoma (HCC), we thereby conducted an association study by genotyping 8 nonsynonymous polymorphisms in HLA-DRB1 gene among 257 HCC patients and 264 controls. Results All polymorphisms respected the Hardy-Weinberg equilibrium. The genotypes and alleles of rs17879599 differed significantly between patients and controls after Bonferroni correction (both P < 0.001), and the power to detect this significance was 94.4%. After adjusting for age, gender, smoking, drinking and hepatitis infection, the mutant allele of rs17879702 was significantly associated with an increased risk for HCC under additive (odds ratio [OR] = 2.12, 95% confidence interval [CI]: 1.20-4.02, P = 0.004) and dominant (OR = 2.51, 95% CI: 1.39–2.96, P = 0.004) models. Haplotype analysis indicated that haplotype A-T-C-T-G-C-T-A (alleles ordered by rs199514452, rs201540428, rs201614260, rs17879702, rs17880292, rs17879599, rs17424145 and rs35445101) was overrepresented in patients and enhanced predisposition to HCC (adjusted OR = 2.72, 95% CI: 1.24–5.78, P = 0.004). In cumulative analysis, carriers of 7–9 unfavorable alleles had a 2.41-fold (95% CI: 1.18–4.92, P = 0.016) increased risk for HCC after adjusting for confounding factors relative to those possessing 4 or less unfavorable alleles. Materials and Methods Genotypes were determined by ligase detection reaction. HCC patients were newly diagnosed, histopathologically confirmed or previously untreated and controls were cancer-free. Conclusions Our findings suggest an independent leading contribution of rs17879599 in the 2nd exon of HLA-DRB1 gene to HCC risk in Han Chinese. PMID:27821814

  14. A case-control study of sudden unexplained nocturnal death syndrome in the southern Chinese Han population.

    PubMed

    Zheng, Jinxiang; Huang, Erwen; Tang, Shuangbo; Wu, Qiuping; Huang, Lei; Zhang, Dongchuan; Quan, Li; Liu, Chao; Cheng, Jianding

    2015-03-01

    To study the epidemiological characteristics of sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population during 2007 to 2013, we gathered 879 SUNDS victims from Dongguan City and in the Longgang District in Shenzhen City as the case group then selected 879 all-cause death cases, adopting a 1:1 pair method, as the control group I and collected 8142 all-cause death cases from the Bao'an District in Shenzhen City as the control group II, simultaneously. Case information collected was statistically analyzed. The annual incidence of SUNDS is 1.02 and 2.23 per 100,000 person-years for Dongguan City and in the Longgang District, respectively. The number of male and female victims is drastically different, with a ratio of 13.92:1, whereas the incidence between the 2 sexes is significantly different (χ2 = 78.734, P < 0.01), with an odds ratio value of 11.32 (95% confidence interval, 5.75-22.28). The age of death of SUNDS cases ranges from 17 to 55 years with a median age of 35 years; furthermore, the difference of distribution of age of death between the SUNDS victims and the all-cause death population is significant (χ2 = 767.12, P < 0.001). The birthplace of SUNDS victims is distributed throughout 27 provinces of China, but the difference between the SUNDS victims and the all-cause death population is not significant (χ2 = 27.273, P > 0.05). The monthly incidence of SUNDS is relatively higher from March to June, whereas the difference of monthly distribution between SUNDS victims and all-cause death population is significant (χ2 = 9.869, P < 0.05), with an odds ratio value of 1.42 (95% confidence interval, 1.14-1.76). Although the majority of SUNDS occurred during midnight sleep, they were mostly discovered from 7 to 9 am once the inmates or spouses woke in the morning. A total of 97.74% of the SUNDS victims were blue-collar factory workers with a high-intensity labor and poor education background. This investigation confirmed the

  15. Association Between Promoter Polymorphisms of the GRP78 Gene and Risk of Type 2 Diabetes in a Chinese Han Population

    PubMed Central

    Liu, Shengyuan; Li, Tao; Xiong, Xingdong; Yao, Songpo; Chen, Zhongwei; Wang, Changyi

    2013-01-01

    There are large amounts of unfolding or misfolding protein accumulation in the endoplasmic reticulum in patients with type 2 diabetes (T2D), which in turn induces the expression of the glucose-regulated protein 78 (GRP78) that plays a key role in influencing insulin secretion and maintaining glucose homeostasis in pancreatic beta cells. The aim in the study is to analyze the potential association between single-nucleotide polymorphisms (SNPs) of GRP78 and the risk of T2D. To assess the association between GRP78 polymorphisms and T2D, a case–control study was conducted among 1058 consecutive unrelated subjects. Of the 1058 subjects, 523 of them were diagnosed with T2D and 535 of them were healthy controls. Four SNPs with R2>0.8 and the minor allele frequency>0.05 (rs391957, rs17840761, rs17840762, and rs11355458) in the GRP78 gene promoter were analyzed. Overall, no associations of GRP78 polymorphisms with T2D were observed in genotypic analyses. In addition, haplotypes combining those SNPs in the promoter in high linkage disequilibrium were also not associated with a T2D risk. However, the levels of fasting plasma glucose and HbA1c in patients with the −415AA/−180GG genotype were significantly lower than those of the patients with −415GG/−180deldel and −415AG/−180Gdel genotypes, and the level of fasting insulin in patients with the −415AA/−180GG genotype was significantly lower than that of the patients with −415GG/−180deldel. The study does not support a role for promoter polymorphisms of GRP78 in T2D in a Chinese Han population, but it does provide a clue for association between low levels of fasting plasma glucose, HbA1c and fasting insulin, and the −415AA/−180GG model. PMID:23402331

  16. Association of genetic variations in the Wnt signaling pathway genes with myocardial infarction susceptibility in Chinese Han population

    PubMed Central

    Abudoukelimu, Mayila; Yang, Yi-ning; Li, Xiao-mei; Xie, Xiang; Chen, Bang-dang; Liu, Fen; He, Chun-hui; Li, Hua-yin; Ma, Yi-tong

    2016-01-01

    Numerous studies have implicated the Wnt pathway in the development and progression of myocardial infarction (MI); however, there are very few investigations addressing the effects of polymorphisms in the Wnt pathway genes on MI susceptibility. We investigated the possible correlation between genetic variations in Wnt pathway genes and MI risk. Three polymorphisms (rs7832767 C > T in SFRP1 gene, rs2293303 C > T in CTNNB1 gene, rs16893344 C > T in WISP1 gene) were finally selected and genotyped in 465 MI patients and 485 healthy controls, using the PCR-RFLP method. We found that the SFRP1 rs7832767 variant allele (T) was associated with a significantly increased risk of MI [TT vs. CC: adjusted odds ratio (AOR) = 3.13, 95% CI = 1.78-5.51; CT/TT vs. CC: AOR = 1.53, 95% CI = 1.12-2.08; TT vs. CC/CT: AOR = 2.87, 95% CI = 1.66-4.97)]. The significant association with MI risk was also found for the CTNNB1 rs2293303 (CT vs. CC: AOR = 3.48, 95% CI = 2.28-5.33; TT vs. CC: AOR = 7.37, 95% CI = 2.08-26.16; CT/TT vs. CC: AOR = 3.72, 95% CI = 2.46-5.62; TT vs. CC/CT: AOR = 5.52, 95% CI = 1.58-19.28), and WISP1 rs16893344 polymorphisms (CT vs. CC: AOR = 2.43, 95% CI = 1.70-3.47; TT vs. CC: AOR = 5.17, 95% CI = 1.85-14.41; CT/TT vs. CC: AOR = 2.58, 95% CI = 1.83-3.66; TT vs. CC/CT: AOR = 3.88, 95% CI = 1.41-10.64). The associations remain significant in stratified analysis by demographic and clinical characteristics of participants, with few exceptions. Our study provided the first evidence of the association between polymorphisms in the Wnt pathway genes and MI susceptibility in Chinese Han population. Epidemiological studies with larger samples and functional analyses are warranted to further verify our results. PMID:27391264

  17. Single Nucleotide Polymorphisms of the Sirtuin 1 (SIRT1) Gene are Associated With age-Related Macular Degeneration in Chinese Han Individuals

    PubMed Central

    Chen, Zhiqing; Zhai, Yi; Zhang, Wei; Teng, Yan; Yao, Ke

    2015-01-01

    Abstract To investigate whether 3 variants in sirtuin 1 (SIRT1) gene contributed differently in patients with age-related macular degeneration (AMD) in a Chinese Han population. We conducted a case–control study in a group of Chinese patients with AMD (n = 253) and contrasted the results against a control group (n = 292). Three single nucleotide polymorphisms (SNPs) of SIRT1 gene including rs12778366, rs3740051, and rs4746720 were genotyped using improved multiplex ligase detection reaction. The association between targeted SNPs and AMD was then analyzed by codominant, dominant, recessive, and allelic models. The genotyping data of rs12778366, rs3740051, and rs4746720 revealed significant deviations from Hardy–Weinberg equilibrium tests in the AMD group but not in the control group. We detected significantly differences of rs12778366 allele distribution between 2 groups in recessive and codominant model (P < 0.05). Homozygous carriers of the risk allele C displayed a higher chance of developing AMD (P = 0.036, odds ratio = 3.227; 95% confidence interval: 1.015–10.265). Our study, for the first time, raises the possibility that genetic variations of SIRT1 could be implicated in the pathophysiology of AMD in the Chinese Han population. PMID:26656366

  18. Platelet to lymphocyte ratio is associated with the severity of coronary artery disease and clinical outcomes of percutaneous coronary intervention in the Chinese Han population

    PubMed Central

    Zhou, Dong; Wang, Guangyao; Fan, Yan; Wan, Zhaofei; Liu, Xiaojun

    2017-01-01

    The aim of the present study was to evaluate whether the ratio of the absolute number of platelets to the number of lymphocytes (PLR) correlates with the severity of coronary artery disease (CAD) and major adverse cardiovascular disease (CVD) events in Chinese patients with CAD. PLR was calculated as follows: PLR=platelet count/lymphocyte count, using the complete blood counts of 854 Chinese Han subjects. CAD severity was determined using angiographic evidence by cardiologists unaware of the study aims. The association between PLR and CAD severity was analyzed by logistic regression. Clinical endpoints were evaluated during a median follow-up period of 42 months. The association between PLR and CVD events was assessed using Cox regression models. Patients with PLR>171 exhibited more severe coronary artery stenosis [odds ratio, 2.393; 95% confidence intervals (CI), 1.394–4.108; P=0.002] and worse prognoses, with a higher rate of major adverse CVD events during five years of follow-up (hazard ratio, 1.982; 95% CI, 1.329–2.957; P=0.001). A Kaplan-Meier curve demonstrated that the CVD event rate of 34.27% in patients with PLR>171 was significantly higher than that in patients with PLR<100 (P<0.001). These findings suggest that PLR is independently associated with CAD severity and long-term major adverse CVD events; therefore, high PLR may predict poor prognosis of CAD in the Chinese Han population.

  19. Evaluation of the genetic parameters and mutation analysis of 22 STR loci in the central Chinese Han population.

    PubMed

    Hongdan, Wang; Bing, Kang; Ning, Su; Miao, He; Bo, Zhang; Yuxin, Guo; Bofeng, Zhu; Shixiu, Liao; Zhaoshu, Zeng

    2017-01-01

    At present, the Han nationality is China's main ethnic group and also the most populous nation in the world. This is a great resource to study microsatellite mutations and for the study of ethnogeny. The aim of this study is to investigate the genetic polymorphisms and mutations of 22 autosomal STR loci in 2475 individuals from Henan province, China. DNA is amplified and genotyped using PowerPlex™24 system. The gene frequencies, forensic parameters, and the mutation rate of the 22 STR loci are analyzed. A total of 295 alleles are observed in this Henan Han population, and the allelic frequencies ranged from 0.0003 to 0.5036. In order to investigate the genetic relationships between the Henan Han and the other 14 different populations, our present data were compared with previously published data for the same 15 STR loci. The results indicated that the Henan Han had closer genetic relationships the groups including Minnan Han, Maonan, Yi and Guangdong Han groups while the South morocco population, the Moroccan population, the Malay group, and the Uigur stand away from Henan Han. Except of D2S441, D13S317, PentaE, D2S1338, D5S818, TPOX and D19S433, the mutation events are found in the other 15 STR loci. A total of 40 mutation events are observed in the 15 STR loci. The mutation rates are ranged from 0 to 4.85 × 10(-3). In this study, 39 mutations are single-step mutations, and only one at FGA comprised two steps. STR mutation is commonly existed in paternity testing, while there are no STR mutation studies of the 22 STR loci in the Henan Han population. It is of great importance in forensic individual discrimination and paternal testing.

  20. Interaction of CARD14, SENP1 and VEGFA polymorphisms on susceptibility to high altitude polycythemia in the Han Chinese population at the Qinghai-Tibetan Plateau.

    PubMed

    Chen, Yu; Jiang, Chunhua; Luo, Yongjun; Liu, Fuyu; Gao, Yuqi

    2016-03-01

    High altitude polycythemia (HAPC) is a serious public health problem among Han Chinese immigrants to the Qinghai-Tibetan Plateau. This study aims to explore the genetic basis of HAPC in the Han Chinese population. 484 male subjects (234 patients and 250 controls) were enrolled in this study. Genotyping was performed for polymorphisms of I/D in ACE, C1772T and G1790A in exon 12 of HIF-1α, rs2567206 in CYP1B1, rs726354 in SENP1, rs3025033 in VEGFA, rs7251432 in HAMP, rs2075800 in HSPA1L and rs8065364 in CARD14. Gene-gene interaction was assessed by multifactor dimensionality reduction. A significant association was seen between CARD14 polymorphism rs8065364 and risk of HAPC development in male Han Chinese, and the C allele of rs8065364 was a risk factor (odds ratio (OR)=1.59, 95% confidence interval (95% CI)=1.21-2.08). Gene-gene interaction analysis indicated that a synergistic relationship existed between rs3025033 and rs8065364 (1.00%), rs3025033 and rs726354 (0.18%), and rs726354 and rs8065364 (0.17%). The combination of rs8065364 in CARD14, rs3025033 in VEGFA and rs726354 in SENP1 was the best model to predict HAPC development in this study (testing accuracy=0.6183, p=0.0010, cross-validated consistency=10/10). Genetic interactions of SNPs in CARD14, SENP1 and VEGFA might represent a functional mechanism in the pathogenesis of HAPC.

  1. Association between Carotid Intima-media Thickness and Aldehyde Dehydrogenase 2 Glu504Lys Polymorphism in Chinese Han with Essential Hypertension

    PubMed Central

    Ma, Xiao-Xiang; Zheng, Shu-Zhan; Shu, Yan; Wang, Yong; Chen, Xiao-Ping

    2016-01-01

    Background: Aldehyde dehydrogenase 2 (ALDH2) is involved in the pathophysiological processes of cardiovascular diseases. Recent studies showed that mutant ALDH2 could increase oxidative stress and is a susceptible factor for hypertension. In addition, wild-type ALDH2 could improve the endothelial functions, therefore reducing the risk of developing atherosclerosis. The aim of the present study was to explore the frequency of the Glu504Lys polymorphism of the ALDH2 gene and its relation to carotid intima-media thickness (CIMT) in a group of patients with essential hypertension (EH) and to investigate the association between the Glu504Lys polymorphism and CIMT in Chinese Han patients with EH. Methods: In this study, 410 Chinese Han patients with EH who received physical examinations at the People's Hospital of Sichuan Province (China) were selected. DNA microarray chip was used for the genotyping of the Glu504Lys polymorphism of the ALDH2 gene. The differences in CIMT among patients with different Glu504Lys ALDH2 genotypes were analyzed. Results: The mean CIMT of the patients carrying AA/AG and GG genotypes was 1.02 ± 0.31 mm and 0.78 ± 0.28 mm, respectively. One-way ANOVA showed that the CIMT of the patients carrying the AA/AG genotype was significantly higher than in the ones carrying the GG genotype (P < 0.001). Multivariate logistic regression showed that the Glu504Lys AA/AG genotype of the ALDH2 gene was one of the major factors influencing the CIMT in patients with EH (odds ratio = 3.731, 95% confidence interval = 1.589–8.124, P = 0.001). Conclusions: The Glu504Lys polymorphism of the ALDH2 gene is associated with the CIMT of Chinese Han patients with EH in Sichuan, China. PMID:27270535

  2. Rs4074134 near BDNF gene is associated with type 2 diabetes mellitus in Chinese Han population independently of body mass index.

    PubMed

    Han, Xueyao; Luo, Yingying; Zhang, Xiuying; Lv, Chao; Sun, Xiuqin; Zhang, Xiaomei; Zhou, Xianghai; Cai, Xiaoling; Ren, Qian; Ji, Linong

    2013-01-01

    Obesity and family history are the most important predictors for type 2 diabetes mellitus(T2DM) in the Chinese Han population. However, it is not known whether the genetic loci related to obesity are associated with the risk of developing T2DM in this population. The present case-control study evaluated the associations between five genetic loci for obesity and the pathogenesis of T2DM. The study included 1117 Chinese Han patients with T2DM, 1629 patients with pre-diabetes (impaired fasting glucose and impaired glucose tolerance, IFG/IGT) and 1113 control subjects residing in Beijing. Five genetic loci including rs2815752 near NEGR1, rs10938397 near GNPDA2, rs4074134 near BDNF, rs17782313 near MC4R and rs1084753 near KCTD15 were genotyped. The results showed an association between rs4074134-BDNF minor allele and T2DM irrespective of age, gender and body mass index (BMI) (OR = 0.87; 95%CI: 0.77-0.99, P = 0.04). This SNP was also associated with pre-diabetes (OR = 0.87; 95%CI: 0.77-0.97, P = 0.01) independently of age, gender and BMI. No associations were found between diabetes or pre-diabetes and any of the other SNP loci studied. Genotype-phenotype association analysis (adjusting for age and gender) showed rs4074134-BDNF to be associated with BMI, waist circumference, fasting and postprandial plasma glucose, fasting serum insulin, and HOMA-IR in subjects without T2DM. However, fasting and postprandial plasma glucose were the only significant factors after adjusting for BMI. These results suggest that the common variation of BDNF (rs4074134) is associated with T2DM independently of obesity in Chinese Han population. This variant also has an effect on plasma glucose concentration, BMI and insulin sensitivity.

  3. Association of GRM7 Variants with Different Phenotype Patterns of Age-Related Hearing Impairment in an Elderly Male Han Chinese Population

    PubMed Central

    Jin, Xiaojie; Pang, Xiuhong; Li, Jiping; Chai, Yongchuan; Li, Lei; Zhang, Yi; Zhang, Luping; Zhang, Zhihua; Wu, Wenjing; Zhang, Qin; Hu, Xianting; Sun, Jingwen; Jiang, Xuemei; Fan, Zhuping; Huang, Zhiwu; Wu, Hao

    2013-01-01

    Several single nucleotide polymorphisms (SNPs) of the Glutamate metabotrophic receptor 7 gene (GRM7) have recently been identified by the genome-wide association study (GWAS) as potentially playing a role in susceptibility to age-related hearing impairment (ARHI), however this has not been validated in the Han Chinese population. The aim of this study was to determine if these SNPs are also associated with ARHI in an elderly male Han Chinese population. In this case-control candidate genes association study, a total of 982 men with ARHI and 324 normal-hearing controls subjects were studied. Using K-means cluster analysis, four audiogram shape subtypes of ARHI were identified in the case group: ‘‘flat shape (FL)’’, ‘‘sloping shape (SL)’’, ‘‘2-4 kHz abrupt loss (AL) shape’’ and ‘‘8 kHz dip (8D) shape’’. Results suggested that the SNP rs11928865 (A>T) of GRM7 was significantly associated with ARHI after adjusting for non-genetic factors (p= 0.000472, OR= 1.599, 95%CI= 1.229~2.081). Furthermore, frequency of TT genotype (rs11928865) were significant higher in the SL subgroup and AL subgroup with compared to controls group (p= 9.41E-05, OR= 1.945, 95%CI= 1.393~2.715; p= 0.000109, OR= 1.915, 95%CI= 1.378~2.661 adjusted, respectively) after Bonferroni correction. However, there wasn’t significant difference in the frequency of the TT genotype between cases in the FL subgroup or the 8D subgroup with when compared with controls. Results of the current study suggest that, in an elderly male Han Chinese population, GRM7 SNP rs11928865 (TT) occurs more frequently in ARHI patients with SL and AL phenotype patterns. PMID:24146964

  4. Significant interaction of APOE rs4420638 polymorphism with HDL-C and APOA-I levels in coronary heart disease in Han Chinese men.

    PubMed

    Huang, Y; Ye, H D; Gao, X; Nie, S; Hong, Q X; Ji, H H; Sun, J; Zhou, S J; Fei, B; Li, K Q; Zhao, J K; Wang, Z P; Xu, M Q; Duan, S W

    2015-10-28

    Apolipoprotein E (APOE) is recognized for its importance in lipoprotein metabolism and cardiovascular disease. We evaluated the association between APOE rs4420638 genotypes and circulating lipid concentrations along with the risk of coronary heart disease (CHD). We conducted a case-control study involving 1508 individuals to investigate the contribution of rs4420638 to the risk of CHD in Han Chinese. In addition, we performed a meta-analysis to evaluate the association between rs4420638 and CHD in Europeans and Asians. The results show that rs4420638 is significantly correlated with increased CHD risk in male Han Chinese [P = 0.040, odds ratio (OR) = 1.34, 95% confidential interval (95%CI) = 1.01-1.78] and is likely to increase the risk of CHD under the dominant model in males (P = 0.036, OR = 1.38, 95%CI = 1.02-1.88). A further subgroup analysis by rs4420638 genotype found a significant association of rs4420638 AA with high-density lipoprotein cholesterol (HDL-C) (P = 0.012) and APOA-I levels (P = 0.0001) in males. The meta-analysis suggests that rs4420638 significantly increases the risk of CHD (OR = 1.18, 95%CI = 1.14-1.22, P < 0.0001, fixed-effect method). Our case-control study shows that rs4420638 genotype AA has a significant association with the concentrations of circulating HDL-C and APOA-I in CHD in Han Chinese males. The meta-analysis suggests that rs4420638 is associated with CHD risk in Europeans and Asians.

  5. Five known tagging DLL3 SNPs are not associated with congenital scoliosis: A case-control association study in a Chinese Han population.

    PubMed

    Yang, Yong; Wang, Bing-Qiang; Wu, Zhi-Hong; Zhang, Hai-Yan; Qiu, Gui-Xing; Shen, Jian-Xiong; Zhang, Jian-Guo; Zhao, Yu; Wang, Yi-Peng; Fei, Qi

    2016-07-01

    Genetic etiology hypothesis is widely accepted in the development of congenital scoliosis (CS). The delta-like 3 (DLL3) gene, a member of the Notch signaling pathway, was implicated to contribute to human CS. In this study, a case-control association study was conducted to determine the association of single nucleotide polymorphism (SNP) in the DLL3 gene with CS in a Chinese Han Population. Five known tagging SNPs of the DLL3 gene were genotyped among 270 Chinese Han subjects (128 nonsyndromic CS patients and 142 matched controls). CS patients were divided into 3 types: type I-failure of formation (29 cases), type II-failure of segmentation (50 cases), and type III-mixed defects (49 cases). The 5 SNPs were analyzed by the allelic and genotypic association analysis, genotype-phenotype association analysis, and haplotype analysis. Allele frequencies of 5 tagging SNPs (SNP1: rs1110627, SNP2: rs3212276, SNP3: rs2304223, SNP4: rs2304222, and SNP5: rs2304214) in CS cases and controls were comparable and there were no available inheritance models. The SNPs were not associated with clinical phenotypes. Moreover, the 5 makers in the DLL3 gene were found to be in strong linkage disequilibrium (LD). Both global haplotype and individual haplotype analyses showed that the haplotypes of SNP1/SNP2/SNP3/SNP4/SNP5 did not correlate with the disease (P >0.05). Together, these data suggest that genetic variants of the DLL3 gene are not associated with CS in the Chinese Han population.

  6. Cumulative Effect and Predictive Value of Genetic Variants Associated with Type 2 Diabetes in Han Chinese: A Case-Control Study

    PubMed Central

    Qian, Yun; Lu, Feng; Dong, Meihua; Lin, Yudi; Li, Huizhang; Dai, Juncheng; Jin, Guangfu; Hu, Zhibin; Shen, Hongbing

    2015-01-01

    Background Genome-wide association studies (GWAS) have identified dozens of single nucleotide polymorphisms (SNPs) associated with type 2 diabetes risk. We have previously confirmed the associations of genetic variants in HHEX, CDKAL1, VEGFA and FTO with type 2 diabetes in Han Chinese. However, the cumulative effect and predictive value of these GWAS identified SNPs on the risk of type 2 diabetes in Han Chinese are largely unknown. Methodology/Principal Findings We conducted a two-stage case-control study consisting of 2,925 cases and 3,281controls to examine the association of 30 SNPs identified by GWAS with type 2 diabetes in Han Chinese. Significant associations were found for proxy SNPs at KCNQ1 [odds ratio (OR) = 1.41, P = 9.91 × 10–16 for rs2237897], CDKN2A/CDKN2B (OR = 1.30, P = 1.34 × 10–10 for rs10811661), CENTD2 (OR = 1.28, P = 9.88 × 10-4 for rs1552224) and SLC30A8 (OR = 1.19, P = 1.43 × 10-5 for rs13266634). We further evaluated the cumulative effect on type 2 diabetes of these 4 SNPs, in combination with 5 SNPs at HHEX, CDKAL1, VEGFA and FTO reported previously. Individuals carrying 12 or more risk alleles had a nearly 4-fold increased risk for developing type 2 diabetes compared with those carrying less than 6 risk alleles [adjusted OR = 3.68, 95% confidence interval (CI): 2.76–4.91]. Adding the genetic factors to clinical factors slightly improved the prediction of type 2 diabetes, with the area under the receiver operating characteristic curve increasing from 0.76 to 0.78. However, the difference was statistically significant (P < 0.0001). Conclusions/Significance We confirmed associations of SNPs in KCNQ1, CDKN2A/CDKN2B, CENTD2 and SLC30A8 with type 2 diabetes in Han Chinese. The utilization of genetic information may improve the accuracy of risk prediction in combination with clinical characteristics for type 2 diabetes. PMID:25587982

  7. Identification of a novel neuregulin 1 at-risk haplotype in Han schizophrenia Chinese patients, but no association with the Icelandic/Scottish risk haplotype.

    PubMed

    Li, T; Stefansson, H; Gudfinnsson, E; Cai, G; Liu, X; Murray, R M; Steinthorsdottir, V; Januel, D; Gudnadottir, V G; Petursson, H; Ingason, A; Gulcher, J R; Stefansson, K; Collier, D A

    2004-07-01

    To determine if neuregulin 1 (NRG1) is associated with schizophrenia in Asian populations, we investigated a Han Chinese population using both a family trio design and a case-control design. A total of 25 microsatellite markers and single nucleotide polymorphisms (SNPs) were genotyped spanning the 1.1 Mb NRG1 gene including markers of a seven-marker haplotype at the 5' end of the gene found to be in excess in Icelandic and Scottish schizophrenia patients. The alleles of the individual markers forming the seven marker at-risk haplotype are not likely to be causative as they are not in excess in patients in the Chinese population studied here. However using unrelated patients, we find a novel haplotype (HAP(China 1)), immediately upstream of the Icelandic haplotype, in excess in patients (11.9% in patients vs 4.2% in controls; P=0.0000065, risk ratio (rr) 3.1), which was not significant when parental controls were used. Another haplotype (HAP(China 2)) overlapping the Icelandic risk haplotype was found in excess in the Chinese (8.5% of patients vs 4.0% of unrelated controls; P=0.003, rr 2.2) and was also significant using parental controls only (P=0.0047, rr 2.1). A four-marker haplotype at the 3' end of the NRG1 gene, HAP(China 3), was found at a frequency of 23.8% in patients and 13.7% in nontransmitted parental haplotypes (P=0.000042, rr=2.0) but was not significant in the case-control comparison. We conclude that different haplotypes within the boundaries of the NRG1 gene may be associated with schizophrenia in the Han Chinese.

  8. Expression of the difference between the Cold (Han) and Hot (Re) natures of traditional Chinese medicines (Strobal and Rhubarb) based on the cold/hot plate differentiating assay.

    PubMed

    Zhao, HaiPing; Zhao, YanLing; Wang, JiaBo; Li, HanBing; Ren, YongShen; Zhou, CanPing; Yan, Dan; Xiao, XiaoHe

    2009-12-01

    In this study, objective differences between the Cold (Han) and Hot (Re) nature of traditional Chinese medicines, e.g. Strobal and Rhubarb, are determined by using a cold/hot plate differentiation technology. A novel, self-designed cold/hot plate differentiating instrument, with methodological study, was used to investigate the intervention of Strobal and Rhubarb on the temperature tropism of mice. Compared with the ICR and BALB/c mice, it was found that KM mice on the cold/hot plate were more sensitive to the change of temperature, within the tolerant temperature range of 15-40 degrees C. The temperature tropism behavior of mice is influenced by treatment with Rhubarb and Strobal, as is the activity of ATPase in liver tissue. These trends are consistent with the definition of the Cold/Hot nature of Chinese medicines based on traditional Chinese medicinal theory. This study showed that the differences of the Cold/Hot nature of traditional Chinese medicines. might be objectively represented by the temperature tropism of animal by means of cold/hot differentiating assay.

  9. Association of IL-12B gene rs6887695 polymorphism with hereditary susceptibility and clinical characterization of psoriasis vulgaris in the Chinese Han population.

    PubMed

    Wu, Yumei; Lu, Zhiyong; Chen, Yingwei; Xue, Feng; Chen, Xiaoying; Pan, Meng; Zheng, Jie

    2013-08-01

    We aimed to investigate the role of IL-12B gene polymorphism (rs6887695) in the disease susceptibility and clinical phenotypes of psoriasis vulgaris patients in the Chinese Han population. The genotype data of the IL-12B gene polymorphism (rs6887695) in 575 psoriasis patients and 1,403 normal controls were investigated using TaqMan technology. The Chi-square test was used to compare the genotype and allele frequency distribution among the groups. The genotypic and allelic frequencies of rs6887695 in the IL-12B gene between the cases and controls, as well as between the guttate and plaque psoriasis cases, were statistically significant (P genotype <0.01, P allele <0.01). However, the differences between the pediatric and adult onset psoriasis patients, between familial and sporadic cases, and between female and male cases were not statistically significant (P > 0.05). The genetic polymorphism of the IL-12B gene (rs6887695) may be associated with the psoriasis susceptibility in the Chinese Han population, especially for the plaque cases, but not associated with the age at onset, family history, or sex.

  10. NPR-C gene polymorphism is associated with increased susceptibility to coronary artery disease in Chinese Han population: a multicenter study

    PubMed Central

    Hu, Qin; Liu, Qiji; Wang, Shasha; Zhen, Xi; Zhang, Zhimian; Lv, Ruijuan; Jiang, Guihua; Ma, Zhiyong; He, Hong; Li, Daqing; Liu, Xiaoling; Gao, Fei; Li, Jifu; Li, Li; Zhang, Mei; Ji, Xiaoping; Chen, Yuguo; Wang, Daowen; Huang, Dejia; Ma, Aiqun; Huang, Wei; Zhao, Yuxia; Gong, Yaoqin; Zhang, Cheng; Zhang, Yun

    2016-01-01

    To find a new locus that confers significant susceptibility to CAD in Chinese Han population, a genome-wide association study in 200 “extreme individuals” from a Shandong cohort and a pathway-based candidate gene study from a Shanghai cohort (293 CAD/293 controls) were simultaneously performed. Amongst them, 13 SNPs associated with CAD were selected to conduct validation and replication studies in additional 3363 CAD patients and 3148 controls. A novel locus rs700926 in natriuretic peptide receptor C (NPR-C) was identified in Shandong and Hubei cohorts. Then rs700926 and other nine tag SNPs were genotyped in four geographically different populations (Shandong, Shaanxi, Hubei and Sichuan cohorts), and 6 SNPs (rs700926, rs1833529, rs2270915, rs17541471, rs3792758 and rs696831) showed stronger association with CAD, regardless of single or combined analysis. We further genotyped rs2270915 and 10 additional tag SNPs in a central China cohort and identified rs12697273 and rs10066436 as the loci associated with CAD. All these positive associations remained significant after adjustment for traditional risk factors of CAD. NPR-C gene SNPs significantly contribute to CAD susceptibility in the Chinese Han population. PMID:27191271

  11. The association between the polymorphisms in a sodium channel gene SCN7A and essential hypertension: a case-control study in the Northern Han Chinese.

    PubMed

    Zhang, Bei; Li, Mei; Wang, Lijuan; Li, Chuang; Lou, Yuqing; Liu, Jielin; Liu, Ya; Wang, Zuoguang; Wen, Shaojun

    2015-01-01

    Nax , an α-subunit of the sodium channel encoded by the SCN7A gene, has been deemed to be a sensor of the concentration of sodium in the brain and may be involved in salt intake behavior. We inferred that Nax /SCN7A may participate in the regulation of blood pressure and the pathogenesis of essential hypertension (EH). The present case-control study involving 615 hypertensives and 617 normotensives was performed to investigate the association between SCN7A polymorphisms and EH in the Northern Han Chinese population. The three common single nucleotide polymorphisms (SNPs) (rs3791251, rs6738031, rs7565062) in the exons of SCN7A were genotyped with the TaqMan assay. Significant association between SNP rs7565062 and EH was found under the addictive and dominant genetic models (P = 0.024, OR = 1.283, 95%CI [1.033-1.592]; P = 0.013, OR = 1.203, 95%CI [1.040-1.392]; respectively). The three SNPs were in close pair-wise linkage disequilibrium with each other and the haplotype analyses indicated that haplotype G-A-T was significantly associated with increased risk of EH (P = 0.023, OR = 1.290). In conclusion, our data showed that SNP rs7565062 of SCN7A was significantly associated with EH and the allele T of rs7565062 or the related haplotype G-A-T will be a genetic risk factor for EH in the Northern Han Chinese population.

  12. Genetic Analysis of FBXO2, FBXO6, FBXO12, and FBXO41 Variants in Han Chinese Patients with Sporadic Parkinson's Disease.

    PubMed

    Yuan, Lamei; Song, Zhi; Deng, Xiong; Yang, Zhijian; Yang, Yan; Guo, Yi; Lu, Hongwei; Deng, Hao

    2017-03-24

    Parkinson's disease (PD) is the second most common neurodegenerative disorder and has an elusive etiology. It is likely multifactorial, and genetic defects contribute to its pathogenesis. At least 25 genetic loci and 20 monogenic genes have been identified in monogenic PD. Recessive F-box protein 7 gene (FBXO7) mutations reportedly cause hereditary parkinsonism. To explore the roles of four paralogs (FBXO2, FBXO6, FBXO12, and FBXO41) in PD development, their variants (rs9614, rs28924120, rs6442117, and rs61733550, respectively) were analyzed in 502 Han Chinese patients with PD and 556 age, gender, and ethnicity-matched normal participants in mainland China. Statistically significant differences in genotypic and allelic frequencies were detected only in the FBXO2 variant rs9614 (P = 0.001 and 0.023, respectively; odds ratio 0.819, 95% confidence interval 0.690-0.973) between patients and controls. These results suggest that the FBXO2 variant rs9614 C allele may decrease the PD risk in mainland Han Chinese and may be a biomarker for PD.

  13. Association study of polymorphisms in FOXO3, AKT1 and IGF-2R genes with human longevity in a Han Chinese population

    PubMed Central

    Liu, Xiaoqi; Ma, Shi; Lin, He; Chen, Rong; Hao, Fang; Zhang, Dingding

    2016-01-01

    FOXO3, AKT1 and IGF-2R are critical members of the insulin/IGF-1 signaling pathway. Previous studies showed that polymorphisms (SNPs) in FOXO3, AKT1 and IGF-2R were associated with human longevity in Caucasian population. However, the association of these SNPs in different ethnic groups is often inconsistent. Here, we investigated the association of genetic variants in three genes with human longevity in Han Chinese population. Twelve SNPs from FOXO3, AKT1 and IGF-2R were selected and genotyped in 1202 long-lived individuals (nonagenarians and centenarians) and younger individuals. Rs9486902 of FOXO3 was found to be associated with human longevity in both genders combined in this study (allelic P = 0.002, corrected P = 0.024). The other eleven SNPs were not significantly associated with human longevity in Han Chinese population. The haplotypes TTCTT, CCTTC and CTCCT of FOXO3 as well as GGTCGG and GGTCAG of AKT1 were shown to have a significant difference between case and control (P =0.006, 2.78×10−5, 4.68×10−6, 0.003,0.005, respectively). The estimated prevalence of diabetes and prediabetes in long-lived individuals was significantly lower than in common adult populations (P = 0.001, 2.3×10−26). Therefore, the search for longevity-associated genes provides the identification of new potential targets beneficial for the treatment of diabetes. PMID:26683100

  14. Cognitive impairments in first-episode drug-naive and chronic medicated schizophrenia: MATRICS consensus cognitive battery in a Chinese Han population.

    PubMed

    Wu, Jing Qin; Chen, Da Chun; Tan, Yun Long; Xiu, Mei Hong; Yang, Fu De; Soares, Jair C; Zhang, Xiang Yang

    2016-04-30

    Cognitive deficits are a core feature of schizophrenia and we examined the cognitive profile of first-episode and chronic schizophrenia in a Chinese Han population using the MATRICS Consensus Cognitive Battery (MCCB). We recruited 79 first-episode drug-naïve (FEDN) schizophrenia, 132 chronic medicated schizophrenia inpatients and 124 healthy controls. We assessed patient psychopathology using the Positive and Negative Syndrome Scale (PANSS). MCCB total score (p<0.01) and index scores of category fluency, trail making A, digital sequence, Hopkins Verbal Learning Test (HVLT), mazes, and Mayer-Salovey-Caruso Emotional Intelligence Test (MSCEIT) were significantly higher in FEDN than in chronic patients (all p<0.05). FEDN exhibited relative weakness in continuous performance, whereas chronic patients exhibited relative weakness in mazes. Multiple regression analysis confirmed that in FEDN and chronic patients, total score and negative symptom of PANSS were independent contributors to MCCB total score, respectively. Our results not only demonstrate the applicability of the MCCB as a sensitive measure of cognitive impairment for schizophrenia patients in a Chinese Han population, but also suggest that the compromised cognition is present in the early stage of schizophrenia, some of which could be more severe in the chronic stage of illness.

  15. Association of histamine N-methyltransferase Thr105Ile polymorphism with Parkinson's disease and schizophrenia in Han Chinese: a case-control study.

    PubMed

    Yang, Xinglong; Liu, Chuanxin; Zhang, Jinxiang; Han, Hongying; Wang, Xiuyan; Liu, Zhoulin; Xu, Yanming

    2015-01-01

    Parkinson's disease (PD) and schizophrenia (SCZ) are frequent central nervous disorders that have unclear etiologies but that show similarities in their pathogenesis. Since elevated histamine levels in the brain have been associated with PD and SCZ, we wanted to explore whether the Thr105Ile substitution in the histamine N-methyltransferase gene (HNMT-Thr105Ile), which impairs histamine degradation, is associated with either disease. We used the ligase detection reaction to genotype a case-control cohort of Han Chinese patients with PD or SCZ and healthy controls at the HNMT-Thr105Ile locus. The Ile allele was associated with reduced risk of PD (OR 0.516, 95% CI 0.318 to 0.838, p = 0.007) and of SCZ (OR 0.499, 95% CI 0.288 to 0.865, p = 0.011). Genotype frequencies and minor allele frequencies were similar between patients and controls when we compared males with females or early-onset patients with late-onset ones. Genotype and allele frequencies were not significantly different between PD patients with dyskinesia and PD patients without dyskinesia. Our results suggest that the heterozygous Thr/Ile genotype at the HNMT-Thr105Ile locus and the minor Ile105 allele protect against PD and SCZ in Han Chinese.

  16. [Association of single nucleotide polymorphisms of susceptibility genes of type 2 diabetes mellitus with liability to gout among ethnic Han Chinese males from coastal region of Shandong].

    PubMed

    Han, Lin; Xin, Ruosai; Sun, Jian; Hou, Feng; Li, Changgui; Hu, Xinlin; Liu, Zhen; Wang, Yao; Li, Xinde; Ren, Wei; Wang, Xuefeng; Jia, Zhaotong

    2015-10-01

    OBJECTIVE To assess the association of single nucleotide polymorphisms (SNPs) of susceptibility genes of type 2 diabetes mellitus (T2DM) with liability to gout among ethnic Han Chinese males from coastal region of Shandong province. METHODS Seven SNPs within the susceptibility genes of T2DM, including rs10773971(G/C) and rs4766398(G/C) of WNT5B gene, rs10225163(G/C) of JAZF1 gene, rs2069590(T/A) of BDKRB2 gene, rs5745709(G/A) of HGF gene, rs1991914(C/A) of OTOP1 gene and rs2236479(G/A) of COL18A1 gene, were typed with a custom-made Illumina GoldenGate Genotyping assay in 480 male patients with gout and 480 male controls. Potential association was assessed with the chi-square test. RESULTS No significant difference was detected for the 7 selected SNPs in terms of genotypic and allelic frequencies (P > 0.05). When age and body mass index (BMI) were adjusted, the 7 genetic variants still showed no significant association with gout. CONCLUSION The genotypes of the 7 selected SNPs are not associated with gout in ethnic Han Chinese male patients from the coastal region of Shandong province. However, the results need to be replicated in larger sets of patients collected from other regions and populations.

  17. MTHFR c.677C>T Inhibits Cell Proliferation and Decreases Prostate Cancer Susceptibility in the Han Chinese Population in Shanghai

    PubMed Central

    Wu, Jun-Long; Zhou, Shu-Xian; Zhao, Rui; Zhang, Xuan; Chang, Kun; Gu, Cheng-Yuan; Gan, Hua-Lei; Dai, Bo; Zhu, Yao; Zhang, Hai-Liang; Shi, Guo-Hai; Qu, Yuan-Yuan; Zhao, Jian-Yuan; Ye, Ding-Wei

    2016-01-01

    Methylenetetrahydrofolate reductase (MTHFR) c.677C>T and c.1298A>C variants were known to be associated with prostate cancer (PCa) risk with conflicting results, because of MTHFR and nutrient status interaction in the prostate development. In this large-scale, hospital-based, case-control study of 1817 PCa cases and 2026 cancer-free controls, we aimed to clarify the association between these two MTHFR variants and PCa risk in Shanghai and to explore the underlying molecular mechanisms. We found that both the heterozygous CT (adjusted OR = 0.78, 95% CI: 0.67–0.92) and the homozygous TT genotypes (adjusted OR = 0.68, 95% CI: 0.55–0.83) of c.677C>T were associated with a significantly decreased risk of PCa compared with homozygous wild-type CC genotype, respectively, using multivariate logistic regression. Furthermore, we confirmed that MTHFR c.677T allele was related to an increased serum homocysteine level in the Han Chinese population in Shanghai. In the cultured PCa cell lines, we observed that MTHFR c.677T could elevate the cellular homocysteine level and cause DNA damage, thus increasing cell apoptosis and finally inhibiting cell proliferation. In conclusion, MTHFR c.677T was a protective factor of PCa risk in ethnic Han Chinese males by inducing DNA damage and cell apoptosis. PMID:27819322

  18. [Discovery of a novel A2 allel in ABO blood group system and investigation of its distribution in Han population of Chinese Fujian province].

    PubMed

    Zhang, Ai; Chi, Quan; Ren, Ben-Chun

    2012-10-01

    This study was aimed to investigate the distribution of A2 subgroup in Han Population of Chinese Fujian province and its molecular mechanisms. One individual with serologic ABO blood grouping discrepancy was identified with commercially available monoclonal and polyclonal antibodies and lectin: anti-A, anti-B, anti-AB, anti-A1, and anti-H reagents according to the routine laboratory methods. DNA sequences of exon 6, 7 and intron 6 of ABO gene were analyzed by polymerase chain reaction using genomic DNA and direct DNA sequencing or sequencing after gene cloning. Red cells of 3 176 A or AB unrelated individuals were tested with anti-A1. The results showed that this individual was identified as A2 subgroup by serological technology, sequencing analysis indicated the A2 subgroup with novel A variant allele, the novel A allele being different from the allele A101 by 467C > T and 607G > A missense mutation in exon 7, no A2 subgroup was identified from the 3 176 individuals by using standard serological technology. It is concluded that a novel A allele responsible for A2 subgroup composing of 467C > T and 607G > A has been firstly confirmed, and the A2 subgroup is very rare in Chinese Fujian Han population.

  19. Association study of polymorphisms in FOXO3, AKT1 and IGF-2R genes with human longevity in a Han Chinese population.

    PubMed

    Li, Ning; Luo, Huaichao; Liu, Xiaoqi; Ma, Shi; Lin, He; Chen, Rong; Hao, Fang; Zhang, Dingding

    2016-01-05

    FOXO3, AKT1 and IGF-2R are critical members of the insulin/IGF-1 signaling pathway. Previous studies showed that polymorphisms (SNPs) in FOXO3, AKT1 and IGF-2R were associated with human longevity in Caucasian population. However, the association of these SNPs in different ethnic groups is often inconsistent. Here, we investigated the association of genetic variants in three genes with human longevity in Han Chinese population. Twelve SNPs from FOXO3, AKT1 and IGF-2R were selected and genotyped in 1202 long-lived individuals (nonagenarians and centenarians) and younger individuals. Rs9486902 of FOXO3 was found to be associated with human longevity in both genders combined in this study (allelic P = 0.002, corrected P = 0.024). The other eleven SNPs were not significantly associated with human longevity in Han Chinese population. The haplotypes TTCTT, CCTTC and CTCCT of FOXO3 as well as GGTCGG and GGTCAG of AKT1 were shown to have a significant difference between case and control (P =0.006, 2.78×10-5, 4.68×10-6, 0.003,0.005, respectively). The estimated prevalence of diabetes and prediabetes in long-lived individuals was significantly lower than in common adult populations (P = 0.001, 2.3×10-26) .Therefore, the search for longevity-associated genes provides the identification of new potential targets beneficial for the treatment of diabetes.

  20. Mild decrease in TBX20 promoter activity is a potentially protective factor against congenital heart defects in the Han Chinese population

    PubMed Central

    Yu, Li-Wei; Wang, Feng; Yang, Xue-Yan; Sun, Shu-Na; Zheng, Yu-Fang; Li, Bin-Bin; Gui, Yong-Hao; Wang, Hong-Yan

    2016-01-01

    Congenital heart defects (CHDs) are one of the most common human birth defects worldwide. TBX20 is a crucial transcription factor for the development of embryonic cardiovascular system. Previous studies have demonstrated that mutations in the TBX20 coding region contribute to familial and sporadic CHD occurrence. However, it remains largely unknown whether variants in the TBX20 regulatory region are also related to CHDs. In this study, we sequenced the 2 kb region upstream of the TBX20 transcription start site in 228 CHD patients and 292 controls in a Han Chinese population. Among the 8 single nucleotide polymorphisms (SNPs) identified, six SNPs are in strong linkage disequilibrium and the minor alleles are associated with lower CHD risk (for rs10235849 chosen as tag SNP, p = 0.0069, OR (95% CI) = 0.68 (0.51–0.90)). Functional analysis showed that the minor alleles have lower transcriptional activity than major alleles in both human heart tissues and three cell lines. The electrophoretic mobility shift assay suggested that TBX20 minor alleles may exhibit higher binding affinity with certain transcription repressors. Our results indicate that a moderately lower TBX20 activity potentially reduces CHD risk in the Han Chinese population, providing new insight in the study of CHD etiology. PMID:27034249

  1. Lack of association between SREBF-1c gene polymorphisms and risk of non-alcoholic fatty liver disease in a Chinese Han population

    PubMed Central

    Peng, Xian-E.; Chen, Feng-Lin; Liu, Wenjuan; Hu, ZhiJian; Lin, Xu

    2016-01-01

    The transcription factor sterol regulatory element-binding protein-1c (SREBP-1c) is a key regulator of lipogenesis and insulin sensitivity, and is associated with non-alcoholic fatty liver disease (NAFLD). Here, we assessed the impact of common single nucleotide polymorphisms (SNPs) in SREBF-1c on NAFLD susceptibility and associated metabolic phenotypes in a Han Chinese population. Four common SNPs (rs62064119, rs2297508, rs11868035 and rs13306741) in the SREBP-1c gene were selected and genotyped in 593 patients with NAFLD and 593 healthy controls. Unconditional logistic regression was performed to assess the risk of NAFLD by determining odds ratios and 95% confidence intervals (CIs). No significant differences in genotype and allele frequencies of these four SNPs were found between the NAFLD population and the controls (all P > 0.05). In addition, we did not find any association between the SREBF-1c SNPs and the clinical and biochemical parameters, such as body mass index, total cholesterol, high density lipoprotein-and low density lipoprotein-cholesterol or systolic and diastolic blood pressure, except that the rs2297508 C-allele or rs11868035 G-allele showed significant associations with lower triglyceride levels in control subjects (P < 0.01). Our findings suggested that the four polymorphisms in SREBF-1c gene are not associated with risk of NAFLD in the Chinese Han population. PMID:27572914

  2. Polymorphisms in MicroRNA Genes And Genes Involving in NMDAR Signaling and Schizophrenia: A Case-Control Study in Chinese Han Population.

    PubMed

    Zhang, Yanxia; Fan, Mei; Wang, Qingzhong; He, Guang; Fu, Yingmei; Li, Huafang; Yu, Shunying

    2015-08-10

    Disturbances in glutamate signaling caused by disruption of N-methyl-D-aspartate-type glutamate receptor (NMDAR) have been implicated in schizophrenia. Findings suggested that miR-219, miR-132 and miR-107 could involve in NMDAR signaling by influencing the expression of pathway genes or the signaling transmission and single nucleotide polymorphisms (SNPs) within miRNA genes or miRNA target sites could result in their functional changes. Therefore, we hypothesized that SNPs in miRNAs and/or their target sites were associated with schizophrenia. 3 SNPs in hsa-pri-miR-219/132/107 and 6 SNPs in 3'UTRs of GRIN2A/2B/3A and CAMK2G were selected and genotyped in a case-control study of 1041 schizophrenia cases and 953 healthy controls in Chinese Han population. In the present study, GRIN2B rs890 showed significant associations with schizophrenia. Further functional analyses showed that the rs890 variant C allele led to significantly lower luciferase activity, compared with the A allele. MDR analysis showed that a 4-locus model including rs107822, rs2306327, rs890 and rs12342026 was the best model. These findings suggest that GRIN2B may be associated with schizophrenia and interaction effects of the polymorphisms in hsa-miR-219, CAKM2G, GRIN2B and GRIN3A may confer susceptibility to schizophrenia in the Chinese Han population.

  3. Cultivating Self-Worth among Dislocated Tibetan Undergraduate Students in a Chinese Han-Dominated National Key University

    ERIC Educational Resources Information Center

    Yi, Lin; Wang, Lili

    2012-01-01

    Drawing upon fieldwork conducted with a group of dislocated Tibetan undergraduate students of the "neidi ban" program in a Han-predominated university, this paper examines the ways in which these students make sense of their worlds. To achieve this, they have actively and engagingly organized a series of symbolically meaningful…

  4. Association of interleukin-18 gene polymorphisms with the outcomes of hepatitis C virus infection in high-risk Chinese Han population.

    PubMed

    Yue, Ming; Wang, Jia-jia; Tang, Shai-di; Feng, Le; Zhang, Yun; Liu, Yan; Wang, Jie; Deng, Xiao-zhao; Xu, Ke; Zhang, Jun

    2013-01-01

    Interleukin 18 (IL-18) gene polymorphisms have been reported to be associated with the outcomes of hepatitis C virus (HCV) infection in Americans, Indians and Europeans. We aimed to investigate whether the association can be replicated in Chinese Han population. Three IL-18 variants, -656G>T, -137G>C and +105A>C, were genotyped in three independent Han cohorts consisting of 552 cases and 784 controls. By using logistic regression analysis and multiple testing, haplotype GCC were associated with a protection from susceptibility to HCV. After stratified analysis, both the carriage of -137C allele in the older or hemodialysis subgroup and the carriage of +105C allele in the younger subgroup were found to be significantly associated with a decreased risk of HCV susceptibility. By using logistic regression analysis and multiple testing for the resolution of HCV infection, our study showed that +105C allele and haplotype GGC displayed a negative effect on HCV persistence. After stratified analysis, a significantly decreased risk for HCV persistence was found in +105C allele in the subgroups of young, male or female, drug user or hemodialysis and HCV-1 or HCV mixed genotype. No significant association was observed between -656G>T and the outcomes of HCV infection. Our results demonstrated that the carriage of -137C allele, +105C allele, haplotype -656G/-137C/+105C and haplotype -656G/-137G/+105C of IL-18 gene may contribute to better outcomes of HCV infection in high-risk Chinese Han population.

  5. Beyond "somatization" and "psychologization": symptom-level variation in depressed Han Chinese and Euro-Canadian outpatients.

    PubMed

    Dere, Jessica; Sun, Jiahong; Zhao, Yue; Persson, Tonje J; Zhu, Xiongzhao; Yao, Shuqiao; Bagby, R Michael; Ryder, Andrew G

    2013-01-01

    The finding that people of Chinese heritage tend to emphasize somatic rather than psychological symptoms of depression has frequently been discussed in the culture and mental health literature since the 1970s. Recent studies have confirmed that Chinese samples report more somatic and fewer psychological depression symptoms compared to "Western" samples. The question remains, however, as to whether or not these effects are attributable to variation in all the constituent symptoms or to a subset. If the latter, there is the additional possibility that some symptoms might show a divergent pattern. Such findings would have implications for how cultural variations in symptom presentation are interpreted, and would also inform the cultural study of affective experiences more broadly. The current study addressed these issues in Chinese (n = 175) and Euro-Canadian (n = 107) psychiatric outpatients originally described by Ryder et al. (2008). Differential item functioning (DIF) was used to examine whether specific somatic and psychological symptoms diverged from the overall patterns of cultural variation. Chi-square analyses were used to examine atypical somatic symptoms (e.g., hypersomnia), previously neglected in this literature. No DIF was observed for the typical somatic symptoms, but Euro-Canadians reported greater levels of atypical somatic symptoms, and showed higher rates of atypical depression. DIF was observed for psychological symptoms-the Chinese reported high levels of "suppressed emotions" and "depressed mood," relative to their overall psychological symptom reporting. Chinese outpatients also spontaneously reported "depressed mood" at similar levels as the Euro-Canadians, contrary to prevailing ideas about Chinese unwillingness to discuss depression. Overall, the findings provide a more nuanced picture of how culture shapes symptom presentation and point toward future studies designed to unpack cultural variation in narrower subsets of depressive symptoms.

  6. Relationship between human LTA4H polymorphisms and extra-pulmonary tuberculosis in an ethnic Han Chinese population in Eastern China.

    PubMed

    Yang, Jinghui; Chen, Jin; Yue, Jun; Liu, Lirong; Han, Min; Wang, Hongxiu

    2014-12-01

    Two single nucleotide polymorphisms in Leukotriene A4 hydrolase (LTA4H) gene were reported to be associated with protection from pulmonary tuberculosis in Vietnamese population. But these associations were not found in the Russians. To investigate the association of LTA4H polymorphisms with tuberculosis in a Han Chinese population in Eastern China, we genotyped 5 SNPs of LTA4H gene in 743 of pulmonary tuberculosis patients, 372 of extra-pulmonary tuberculosis patients and 888 of healthy controls individuals. The CC and TT homozygotes of rs1978331 and rs2540474 were identified to have higher rates (P < 0.01) and be risk factors in the patients with extra-pulmonary tuberculosis (OR = 1.412; 95% CI = 1.104-1.804 and(OR = 1.380; 95% CI = 1.080-1.764). However, no significant association was found between any of the SNPs and pulmonary tuberculosis. In the extra-pulmonary tuberculosis subgroups. LTA4H gene were significantly associated with tuberculous meningitis, lymph node tuberculosis, bone tuberculosis and other extra-pulmonary tuberculosis except for pleural tuberculosis. The present findings suggest that polymorphisms in the LTA4H gene may affect susceptibility to extra-pulmonary tuberculosis and change the risk of developing the disease in the Han nationality in the East China.

  7. Polymorphism rs2200733 at chromosome 4q25 is associated with atrial fibrillation recurrence after radiofrequency catheter ablation in the Chinese Han population

    PubMed Central

    Chen, Feifei; Yang, Yanzong; Zhang, Rongfeng; Zhang, Shulong; Dong, Yingxue; Yin, Xiaomeng; Chang, Dong; Yang, Zhiqiang; Wang, Kejing; Gao, Lianjun; Xia, Yunlong

    2016-01-01

    To test polymorphisms rs2200733 (chromosome 4q25) and rs2106261 (ZFHX3) were associated with AF recurrence after catheter ablation in a Chinese Han cohort. A total of 235 AF patients who underwent catheter ablation were recruited consecutively. Two polymorphisms were amplified by polymerase chain reaction and genotyped using high resolution melting analysis. Primary endpoints for AF recurrence were defined as the time to the first recurrence of atrial tachycardia/flutter/fibrillation (AT/AF). AT/AF recurrence was observed in 76 patients (35%). Allelic analysis demonstrated that rs2200733 was strongly associated with AF recurrence after ablation (P = 0.011) and the minor allele T increased the risk for recurrence (OR = 1.715). Diameters of the right atrium as well as the left and right superior pulmonary veins (PVs) were associated with rs2200733 in different genetic models (P = 0.040, 0.047 and 0.028, respectively). No significant association was detected between rs2106261 and AT/AF recurrence after ablation or atrial/PV diameters in any models. On multivariate Cox regression analysis, only rs2200733 was an independent factor of AF recurrence after ablation (HR = 0.532, P = 0.022). In Chinese Han population, rs2200733 but not rs2106261 is associated with AT/AF recurrence after ablation. The patients with genotype TT have larger size of right atrium and superior PVs than those of CC genotype. The findings suggest that rs2200733 may play a key role in regulating proper development and differentiation of atria/PVs. PMID:27158361

  8. MMP-9 gene polymorphisms (rs3918242, rs3918254 and rs4810482) and the risk of psoriasis vulgaris: No evidence for associations in a Chinese Han population.

    PubMed

    Liang, Jingyao; Zhao, Tian; Yang, Juan; Li, Wei; Zhang, Fang; Zhang, Sanquan; Huang, Zhenming; Lin, Rihua; Zhang, Xibao

    2015-12-01

    Several previous studies including one of them co-authored by our group have revealed that serum and psoriatic plaque expression of matrix metalloproteinase-9 (MMP-9) was significantly upregulated in psoriasis. The aim of this study was to investigate the association of three single nucleotide polymorphisms (SNPs) and haplotypes of MMP-9 (rs3918242, rs3918254 and rs4810482) with psoriasis vulgaris in a Chinese Han population. The serum levels of MMP-9 in 245 psoriasis vulgaris cases and 256 healthy controls were assessed using ELSA kits, and the three SNPs were genotyped using polymerase chain reaction-ligation detection reaction (PCR-LDR) method. Four haplotypes based on the three SNPs were also analyzed. Our study showed that the serum MMP-9 levels in patients with psoriasis vulgaris were significantly higher than that in controls (P<0.05). However, the three SNPs were not significantly associated with psoriasis vulgaris susceptibility (all P>0.05). Similar results were found in further subgroup analysis based on gender, age of onset, family history, and serum MMP-9 levels, except that a protective effect of psoriasis vulgaris was detected among female subjects with the CT genotype of rs3918254 (OR=0.47, 95% CI=0.23-0.96, P=0.038), but this association did not survive after Bonferroni correction (P(adj)=0.076). The haplotype analysis also failed to show any association with psoriasis vulgaris. We found no evidence for the association between the MMP-9 polymorphisms and psoriasis vulgaris susceptibility in a Chinese Han population.

  9. No association of a casein kinase 1ε (CK1ε) gene polymorphism with personality traits in healthy Chinese-Han subjects.

    PubMed

    Li, Jingying; Ma, Huan; Huang, Yinglin; Wu, Lijuan; Li, Jun; Zhao, Xiaofeng; Jin, Qiu; Zhu, Gang

    2012-07-01

    The human casein kinase 1 (CK1) family is comprised of seven monomeric serine/threonine kinases (α, β, γ1-γ3, δ, and ε) encoded by seven highly conserved genes. Casein kinases modulate numerous biological and pathological processes by regulating the phosphorylation of the 32 kDa dopamine- and cAMP-regulated phosphoprotein DARPP-32, a major downstream regulator of dopamine signaling. Individual variation in the dopamine signaling system is thought to determine certain dimensions of personality, but there have been no published studies investigating the involvement of CK1 in the biological determination of temperament. We examined the association between the rs135745C/G polymorphism of the CK1ε gene CSNK1E and personality traits as measured by the tridimensional personality questionnaire in healthy Chinese-Han subjects. There were no differences in the total scores for novelty seeking (NS, χ (2) = 4.151, P = 0.125), harm avoidance (χ (2) = 3.299, P = 0.192), or reward dependence (χ (2) = 0.816, P = 0.665) between the rs135745C/G genotypes. In the sub-item analyses, the NS1 scores were significantly different (χ (2) = 7.024, P = 0.030) between rs135745C/G genotypes. However, this difference did not remain statistically significant after Bonferroni correction. Thus, our results did not provide evidence for the association between CK1ε gene and personality traits in healthy Chinese-Han subjects.

  10. Association between genetic polymorphism of telomere-associated gene ACYP2 and the risk of HAPE among the Chinese Han population

    PubMed Central

    Zhu, Linhao; Liu, Lijun; He, Xue; Yan, Mengdan; Du, Jieli; Yang, Hua; Zhang, Yuan; Yuan, Dongya; Jin, Tianbo

    2017-01-01

    Abstract High-altitude pulmonary edema (HAPE) is a hypoxia-induced, life-threatening, pulmonary edema, which is characterized by exaggerated pulmonary hypertension caused by stress failure. ACYP2 was found to associated with telomere length, the aim of this study was to identify whether ACYP2 polymorphisms increase or decrease HAPE risk in the Chinese Han individuals. In present study, we have genotyped 7 single-nucleotide polymorphisms (SNPs) in ACYP2 to determine the haplotypes in a case–control study with 265 HAPE patients and 303 healthy individuals. Genotypes were determined using the Sequenom MassARRAY method. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression with adjustment for gender and age. We found 3 SNPs yielded significant evidence for association with HAPE risk which had not been investigated before. Rs6713088 was found to have a 1.85- and 1.30-fold increased risk of HAPE in the recessive and additive model. The GT of rs843752 also conferred an increased risk of HAPE (GT/TT: OR = 1.51, 95% CI: 1.05–2.16, P = 0.026) and the genotype frequency distributions of rs843752 had significant difference between cases and controls. The CC genotype of rs17045754 had a protect effect on HAPE patients, and it was found to have a 0.29-fold reduced risk of HAPE in the recessive model. Although additional, larger population-based studies are needed to confirm these findings, our study shed light on the association between ACYP2 variant and HAPE risk in Han Chinese population for the first time. PMID:28353602

  11. Loss of coxsackie and adenovirus receptor expression in human colorectal cancer: A potential impact on the efficacy of adenovirus-mediated gene therapy in Chinese Han population.

    PubMed

    Ma, Ying-Yu; Wang, Xiao-Jun; Han, Yong; Li, Gang; Wang, Hui-Ju; Wang, Shi-Bing; Chen, Xiao-Yi; Liu, Fan-Long; He, Xiang-Lei; Tong, Xiang-Min; Mou, Xiao-Zhou

    2016-09-01

    The coxsackie and adenovirus receptor (CAR) is considered a tumor suppressor and critical factor for the efficacy of therapeutic strategies that employ the adenovirus. However, data on CAR expression levels in colorectal cancer are conflicting and its clinical relevance remains to be elucidated. Immunohistochemistry was performed on tissue microarrays containing 251 pairs of colon cancer and adjacent normal tissue samples from Chinese Han patients to assess the expression levels of CAR. Compared with healthy mucosa, decreased CAR expression (40.6% vs. 95.6%; P<0.001) was observed in colorectal cancer samples. The CAR immunopositivity in tumor tissues was not significantly associated with gender, age, tumor size, differentiation, TNM stage, lymph node metastasis or distant metastasis in patients with colon cancer. However, expression of CAR is present in 83.3% of the tumor tissues from patient with colorectal liver metastasis, which was significantly higher than those without liver metastasis (39.6%; P=0.042). At the plasma membrane, CAR was observed in 29.5% normal mucosa samples, which was significantly higher than in colorectal cancer samples (4.0%; P<0.001). In addition, the survival analysis demonstrated that the expression level of CAR has no association with the prognosis of colorectal cancer. CAR expression was observed to be downregulated in colorectal cancer, and it exerts complex effects during colorectal carcinogenesis, potentially depending on the stage of the cancer development and progression. High CAR expression may promote liver metastasis. With regard to oncolytic therapy, CAR expression analysis should be performed prior to adenoviral oncolytic treatment to stratify Chinese Han patients for treatment.

  12. Lack of association between lipoprotein(a) genetic variants and subsequent cardiovascular events in Chinese Han patients with coronary artery disease after percutaneous coronary intervention

    PubMed Central

    2013-01-01

    Background Elevated lipoprotein(a) [Lp(a)] levels predict cardiovascular events incidence in patients with coronary artery disease (CAD). Genetic variants in the rs3798220, rs10455872 and rs6415084 single-nucleotide polymorphisms (SNPs) in the Lp(a) gene (LPA) correlate with elevated Lp(a) levels, but whether these SNPs have prognostic value for CAD patients is unknown. The present study evaluated the association of LPA SNPs with incidence of subsequent cardiovascular events in CAD patients after percutaneous coronary intervention (PCI). Methods TaqMan SNP genotyping assays were performed to detect the rs6415084, rs3798220 and rs10455872 genotypes in 517 Chinese Han patients with CAD after PCI. We later assessed whether there was an association of these SNPs with incidence of major adverse cardiovascular events (MACE: cardiac death, nonfatal myocardial infarction, ischemic stroke and coronary revascularization). Serum lipid profiles were also determined using biochemical methods. Results Only the rs6415084 variant allele was associated with higher Lp(a) levels [41.3 (20.8, 74.6) vs. 18.6 (10.3, 40.9) mg/dl, p < 0.001]. During a 2-year follow-up period, 102 patients suffered MACE, and Cox regression analysis demonstrated that elevated Lp(a) (≥30 mg/dl) levels correlated with increased MACE (adjusted HR, 1.69; 95% CI 1.13-2.53), but there was no association between LPA genetic variants (rs6415084 and rs3798220) and MACE incidence (p > 0.05). Conclusions Our data did not support a relationship between genetic LPA variants (rs6415084 and rs3798220) and subsequent cardiovascular events after PCI in Chinese Han CAD patients. PMID:23978127

  13. -173G/C polymorphism in the promoter of MIF is associated with hepatitis B virus infection in a Chinese Han population.

    PubMed

    Wang, Z S; Yin, C C; Han, S; Jiang, F L; Guo, W G; Wu, L Q; Liu, S H

    2015-07-28

    In addition to the host immune response, genetic and environmental factors play crucial roles in the manifestation of hepatitis B virus (HBV) infection. The macrophage migration inhibitory factor (MIF) -173G/C polymorphism (rs755622), located in the promoter region of MIF, may play integral roles in diverse processes, including the immune response. Thus, the MIF -173G/C polymorphism may influence the immune response to HBV during natural infection. We investigated whether the MIF -173G/C polymorphism was associated with susceptibility to HBV infection in a Chinese Han population. A total of 596 HBV infection cases and 612 age-matched controls were recruited for the study. Genotyping of the MIF -173G/C polymorphism was performed using the allele-specific polymerase chain reaction method. The frequencies of the alleles and genotypes in patients and controls were compared using the χ(2) test. Carriers of the variant C allele in MIF -173 G/C were at significantly higher risk of HBV infection than carriers of the wild-type allele (P = 0.032, odds ratio = 0.799, 95% confidence interval = 0.651-0.981). However, there was no significant difference in the distribution of MIF -173G/C genotypes between case and control groups in either population (P = 0.096, degrees of freedom = 2). Our findings indicate that the G to C base change in MIF -173 G/C confers an increased risk of development of HBV infection by altering the expression of MIF in our Chinese Han population.

  14. Investigation of a Possible Role for the Histidine Decarboxylase Gene in Tourette Syndrome in the Chinese Han Population: A Family-Based Study

    PubMed Central

    Liu, Meixin; Xu, Longqiang; Li, Qiang; Zhang, Ru; Zhang, Xin; Liu, Shiguo

    2016-01-01

    Tourette syndrome (TS) is a polygenic neuropsychiatric disease. Previous studies have indicated that dysregulation in the histaminergic system may play a crucial role in disease onset. In this study, we investigated the role of the histidine decarboxylase gene (HDC) in TS susceptibility in the Chinese Han population. After genotyping 241 TS nuclear families trios, we analyzed three tag HDC single nucleotide polymorphisms (rs854150, rs854151, and rs854157) in a family-based study using the transmission disequilibrium test (TDT) and haplotype relative risk (HRR). TDT showed no over-transmission in these SNPs across the HDC region (for rs854150: χ2 = 0.472, P = 0.537, OR = 1.097, 95%CI = 0.738–1.630; for rs854151: χ2 = 0.043, P = 0.889, OR = 1.145, 95%CI = 0.767–1.709; for rs854157:χ2 = 0.984, P = 0.367, OR = 1.020, 95%CI = 0.508–2.049). HRR also showed the same tendency (for rs854150: χ2 = 0.211, P = 0.646, OR = 1.088, 95%CI = 0.759–1.559; for rs854151: χ2 = 0.134, P = 0.714, OR = 0.935, 95%CI = 0.653–1.339; for rs854157:χ2 = 0.841, P = 0.359, OR = 1.206, 95%CI = 0.808–1.799). Additionally, the haplotype-based haplotype relative risk showed a negative association. Although these findings indicate an unlikely association between HDC and TS in the Chinese Han population, a potential role for HDC cannot be ruled out in TS etiology. Future research should investigate this more thoroughly using different populations and larger samples. PMID:27529419

  15. Joint effect of CENTD2 and KCNQ1 polymorphisms on the risk of type 2 diabetes mellitus among Chinese Han population.

    PubMed

    Qian, Yun; Dong, Meihua; Lu, Feng; Li, Huizhang; Jin, Guangfu; Hu, Zhibin; Shen, Chong; Shen, Hongbing

    2015-05-15

    Genome-wide association studies (GWAS) in populations of European ancestry have identified nine single nuclear polymorphisms (SNP) on chromosome 11 related to type 2 diabetes (T2D) susceptibility. Herein, we further evaluate the association of these SNPs and T2D in a Chinese Han population. We performed a case-control study of 2925 T2D cases and 3281 controls to evaluate the association of five SNPs of KCNJ11, MTNR1B, CENTD2 and LOC387761 and T2D in addition to the previously reported four SNPs of KCNQ1. Multiple logistic regression was used to evaluate SNP's effect by adjustment for confounding factor age, sex and BMI. In the first stage, SNPs rs1552224 at CENTD2 were significantly associated with T2D and the association was statistically significant in the whole study population (P = 0.001) although it was not replicated in the second stage. rs1552224 and rs2237897 of KCNQ1 showed significant joint effect on T2D and there was a significant decreased risk of T2D with the number increase of risk alleles (P for trend = 3.81 × 10(-17)). Compared to those without carrying any risk allele, individuals carrying one, two, and three or four risk alleles had a 30.7%, 44.8% and 62.0% decreased risk for developing T2D, respectively. Our finding suggests that genetic variant rs1552224 of CENTD2 on chromosome 11 contributes to an independent effect as well as joint cumulative effect with rs2237897 of KCNQ1 on the risk of T2D in Chinese Han population, and further functional research would be warranted.

  16. A genome-wide gene–gene interaction analysis identifies an epistatic gene pair for lung cancer susceptibility in Han Chinese

    PubMed Central

    Chu, Minjie; Zhang, Ruyang; Zhao, Yang; Shen, Hongbing; Chen, Feng

    2014-01-01

    Lung cancer is the leading cause of cancer-related deaths worldwide. By now, genome-wide association studies (GWAS) have identified numerous loci associated with the risk of developing lung cancer. However, these loci account for only a small fraction of the familial lung cancer risk. We hypothesized that epistasis may contribute to the missing heritability. To test this hypothesis, we systematically evaluated the association of epistasis of genetic variants with risk of lung cancer in Han Chinese cohorts. We conducted a pairwise genetic interaction analysis of 591370 variants, using BOolean Operation-based Screening and Testing (BOOST), in an ongoing GWAS of lung cancer that includes 2331 cases and 3077 controls. Pairs of epistatic loci with P BOOST ≤ 1.00×10−6 were further evaluated by a logistic regression model (LRM) with covariate adjustment. Four promising epistatic pairs identified at the screening stage (P LRM ≤ 2.86×10− 13) were validated in two replication cohorts: the first from Beijing (1534 cases and 1489 controls) and the second from Shenyang and Guangzhou (2512 cases and 2449 controls). Using this combined analysis, we identified an interaction between rs2562796 and rs16832404 at 2p32.2 that was significantly associated with the risk of developing lung cancer (P LRM = 1.03×10−13 in total 13 392 subjects). This study is the first investigation of epistasis for lung cancer on a genome-wide scale in Han Chinese. It addresses part of the missing heritability in lung cancer risk and provides novel insight into the multifactorial etiology of lung cancer. PMID:24325914

  17. Toll-like receptor 1(TLR1) Gene SNP rs5743618 is associated with increased risk for tuberculosis in Han Chinese children.

    PubMed

    Qi, Hui; Sun, Lin; Wu, Xirong; Jin, Yaqiong; Xiao, Jing; Wang, Shengfeng; Shen, Chen; Chu, Ping; Qi, Zhan; Xu, Fang; Guo, Yajie; Jiao, Weiwei; Tian, Jianling; Shen, Adong

    2015-03-01

    Toll-like receptor 1 (TLR1) recognizes lipopeptides with TLR2, and affects immune response to Mycobacterium tuberculosis infection. Here, we report results of the first case-control pediatric study of the TLR1 single-nucleotide polymorphisms and susceptibility to tuberculosis (TB). A pediatric case-control study enrolled 340 TB patients and 366 healthy controls, all Han Chinese from North China. Significant differences of the allelic and genotypic distributions of rs5743618 in TLR1 gene were observed between TB group and control group and, G allele of rs5743618 was associated with increased risk for TB (OR: 2.40, 95%CI: 1.41-4.07, P = 0.0009). TLR1 rs5743618 -GT genotype was related to reduction in surface expression of TLR1 in monocytes and granulocytes regardless of stimulation with inactivated H37Rv. In addition, after stimulated with inactivated lysate of M. tuberculosis strain H37Rv, samples of peripheral blood mononuclear cells (PBMCs) from children with the rs5743618 GT genotypes showed a decreased level of Tumor Necrosis Factor-a (TNF-a) and CXC chemokine ligand 10 (CXCL10) production, invariable production of interleukin-6 (IL-6) and IL-8 and increased production of IL-10 ex vivo. To conclude, TLR1 rs5743618 G allele was found associated to susceptibility to TB in Han Chinese pediatric population. TLR1 rs5743618-GT genotype carriers may have reduced immune response to MTB infection although further study is warranted to test this conclusion.

  18. Influence of HLA-DRB alleles on haemorrhagic fever with renal syndrome in a Chinese Han population in Hubei Province, China.

    PubMed

    Zhu, N; Luo, F; Chen, Q; Li, N; Xiong, H; Feng, Y; Yang, Z; Hou, W

    2015-01-01

    Specific human leucocyte antigen (HLA) alleles are considered a genetic risk factor for the progression of haemorrhagic fever with renal syndrome (HFRS) caused by hantaviruses. The aim of this study was to establish whether HLA-DRB alleles are associated with the severity of HFRS caused by different types of hantaviruses in a Chinese Han population from Hubei Province of central China. Twenty-two specific HLA-DRB alleles were analysed by sequence-specific primer-polymerase chain reaction (SSP-PCR) in 100 HFRS patients and 213 healthy volunteers. Associations of HLA-DRB alleles with the severity and clinical parameters of HFRS caused by Hantaan virus (HTNV) or Seoul virus (SEOV) infection were evaluated. Six alleles (HLA-DRB1*0401-0411, HLA-DRB1*1001, HLA-DRB1*1101-1105, HLA-DRB1*1201-1202, HLA-DRB1*1305 and DRB5*0101-0201) demonstrated strong associations with HFRS caused by HTNV and SEOV infections. Further comparison of these HLA-DRB1 allele frequencies between HFRS patients with differing severities and healthy controls demonstrated that the HLA-DRB1*0401-0411, HLA-DRB1*1001 and DRB1*1305 alleles were more frequent in the moderate course of HTNV-infected HFRS. Meanwhile, the DRB1*1101-1105 allele was more frequently observed in the severe course of HTNV-infected HFRS. We also found that the HLA-DRB1*1201-1202 allele frequency was higher in the moderate course of SEOV-infected HFRS, whereas the DRB5*0101-0201 allele may play a protective role in moderate HFRS caused by both HTNV and SEOV infections. These results provide evidence of the influence of HLA-DRB on the severity of HFRS and confirm the effect of HLA-DRB on HFRS during different types of hantavirus infection in a Chinese Han population in Hubei Province, China.

  19. Association of patatin-like phospholipase domain-containing protein 3 gene polymorphisms with susceptibility of nonalcoholic fatty liver disease in a Han Chinese population

    PubMed Central

    Song, Guohe; Xiao, Chao; Wang, Kai; Wang, Yupeng; Chen, Jian; Yu, Yang; Wang, Zhaowen; Deng, Guilong; Sun, Xing; Zhong, Lin; Zhou, Chongzhi; Qi, Xiaosheng; Wang, Shuyun; Peng, Zhihai; Wang, Xiaoliang

    2016-01-01

    Abstract Gene polymorphisms had been found to be associated with increased risk of nonalcoholic fatty liver disease (NAFLD). The aim of the present study was to assess the association between rs2896019 and rs3810622 in PNPLA3 with the susceptibility to NAFLD in Han Chinese population. A total of 384 NAFLD patients and 384 controls were enrolled in the study. Blood samples collected from each subject were used for biochemical index analysis and DNA extraction. Genotyping analyses of PNPLA3 rs2896019 and rs3810622 were performed by real-time PCR methods. Results showed that patients with genotype GG of rs2896019 had a higher incidence of NAFLD than patients with genotypes GT and TT (62.4% vs 52.0% and 43.3%, respectively, P = 0.002), and a higher risk of moderate to severe NAFLD than patients with genotypes GT and TT (60.3% vs 46.2% and 40.2%, respectively, P = 0.03). Furthermore, patients with genotype GG of rs2896019 had higher levels of low-density lipoprotein (LDL, P < 0.001), ALT (P = 0.003), and AST (P = 0.002). Patients with genotype TT of rs3810622 had a higher incidence of NAFLD than patients with genotypes CT and CC (56.7% vs 48.4% and 41.5%, respectively, P = 0.013). Likewise, patients with genotype TT of rs3810622 had higher levels of ALT (P = 0.021) and blood glucose (GLU) (P = 0.034). Haplotype association analysis showed that GT haplotype conferred a statistically significant increased risk for NAFLD (OR = 1.49; 95% CI = 1.20–1.84, P < 0.01). These results suggest that PNPLA3 rs2896019 and rs3810622 polymorphisms significantly contribute to increased NAFLD risk in Han Chinese population. PMID:27537584

  20. BsmI polymorphisms in vitamin D receptor gene are associated with diabetic nephropathy in type 2 diabetes in the Han Chinese population.

    PubMed

    Zhang, Hao; Wang, Jianwen; Yi, Bin; Zhao, Yan; Liu, Yan; Zhang, Ke; Cai, Xu; Sun, Jian; Huang, Lihua; Liao, Qin

    2012-03-10

    We investigated the relationship between BsmI/ApaI polymorphisms in vitamin D receptor gene and diabetic nephropathy in a Han Chinese population. PCR-restriction fragment length polymorphism was used to test the genotype and allele frequency of BsmI and ApaI polymorphisms in 304 patients with type 2 diabetes mellitus (DM group) and 100 control individuals (ND group). The DM group was further divided into DN0 (no diabetic nephropathy), DN1 (diabetes with small amount of albuminuria), DN2 (diabetes with large amount of albuminuria), L/NDN (late-onset DN after 5 years/no DN over the whole follow-up period of 5 years) and EDN (early-onset diabetic nephropathy occurring within first year) subgroup. We found that (1) genotype and allele frequency of BsmI polymorphism had significant difference between DM and ND group; BB+Bb genotype and B allele frequency were significantly higher in DN2 group than in ND and DN0 group; the ApaI polymorphism and allele frequency did not show any difference between DM and ND group; (2) BsmI BB+Bb genotype and B allele frequency were significantly higher in EDN group than in L/NDN group; (3) among patients with nephropathy, albumin excretion rate (AER) in 24-hour urine was significantly higher in those with BB+Bb phenotype than in those with bb phenotype (P<0.01), (4) unconditional logistic regression analysis showed that BsmI BB+Bb genotype was not only correlated with type 2 diabetic nephropathy, but also correlated with early-onset type 2 diabetic nephropathy. We conclude that the allele B (BB or Bb genotype) in vitamin D receptor gene is correlated with large amount albuminuria in the Han Chinese population with type 2 diabetes, and is probably a risk factor for early-onset diabetic nephropathy.

  1. Genetic variation in WDR1 is associated with gout risk and gout-related metabolic indices in the Han Chinese population.

    PubMed

    Liu, L J; Zhang, X Y; He, N; Liu, K; Shi, X G; Feng, T; Geng, T T; Yuan, D Y; Kang, L L; Jin, T B

    2016-04-28

    Gout is the most common form of inflammatory arthritis affecting men, and current evidence suggests that genetic factors contribute to its progression. As a previous study identified that WD40 repeat protein 1 (WDR1) is associated with gout in populations of European descent, we sought to investigate its relationship with this disease in the Han Chinese population. We genotyped six WDR1 single nucleotide polymorphisms in 143 gout cases and 310 controls using Sequenom MassARRAY technology. The SPSS 16.0 software was used to perform statistical analyses. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression, with adjustments for age and gender. In an analysis using an allelic model, we identified that the minor alleles of rs3756230 (OR = 0.64, 95%CI = 0.450-0.911, P = 0.013) and rs12498927 (OR = 1.377, 95%CI = 1.037-1.831, P = 0.027) were associated with gout risk. In addition, we found that the "A/A" genotype of rs12498927 was associated with increased risk of gout under codominant (OR = 2.22, 95%CI = 1.12- 4.40, P = 0.042) and recessive models (OR = 2.24, 95%CI = 1.20-4.17, P = 0.012). We also determined the "A/G" genotype of rs12498927 to be significantly associated with higher urea levels in gout patients (P = 0.017). Our data shed new light on the association between genetic variations in the WDR1 gene and gout susceptibility in the Han Chinese population.

  2. Loss of coxsackie and adenovirus receptor expression in human colorectal cancer: A potential impact on the efficacy of adenovirus-mediated gene therapy in Chinese Han population

    PubMed Central

    Ma, Ying-Yu; Wang, Xiao-Jun; Han, Yong; Li, Gang; Wang, Hui-Ju; Wang, Shi-Bing; Chen, Xiao-Yi; Liu, Fan-Long; He, Xiang-Lei; Tong, Xiang-Min; Mou, Xiao-Zhou

    2016-01-01

    The coxsackie and adenovirus receptor (CAR) is considered a tumor suppressor and critical factor for the efficacy of therapeutic strategies that employ the adenovirus. However, data on CAR expression levels in colorectal cancer are conflicting and its clinical relevance remains to be elucidated. Immunohistochemistry was performed on tissue microarrays containing 251 pairs of colon cancer and adjacent normal tissue samples from Chinese Han patients to assess the expression levels of CAR. Compared with healthy mucosa, decreased CAR expression (40.6% vs. 95.6%; P<0.001) was observed in colorectal cancer samples. The CAR immunopositivity in tumor tissues was not significantly associated with gender, age, tumor size, differentiation, TNM stage, lymph node metastasis or distant metastasis in patients with colon cancer. However, expression of CAR is present in 83.3% of the tumor tissues from patient with colorectal liver metastasis, which was significantly higher than those without liver metastasis (39.6%; P=0.042). At the plasma membrane, CAR was observed in 29.5% normal mucosa samples, which was significantly higher than in colorectal cancer samples (4.0%; P<0.001). In addition, the survival analysis demonstrated that the expression level of CAR has no association with the prognosis of colorectal cancer. CAR expression was observed to be downregulated in colorectal cancer, and it exerts complex effects during colorectal carcinogenesis, potentially depending on the stage of the cancer development and progression. High CAR expression may promote liver metastasis. With regard to oncolytic therapy, CAR expression analysis should be performed prior to adenoviral oncolytic treatment to stratify Chinese Han patients for treatment. PMID:27485384

  3. Association of common variants in MTAP with susceptibility and overall survival of osteosarcoma: a two-stage population-based study in Han Chinese

    PubMed Central

    Zhi, Liqiang; Liu, Dan; Wu, Stephen G.; Li, Tianqing; Zhao, Guanghui; Zhao, Bo; Li, Meng

    2016-01-01

    Osteosarcoma (OS) is a common malignant tumor, which exists widely in the bone of children and adolescents, and genetic factors may influence its susceptibility. Recently, the gene MTAP has been reported to be associated with OS in a Caucasian population. To investigate the association of common variants in MTAP with OS risk in Han Chinese individuals, we designed a two-stage case-control study with 392 OS patients and 1,578 unrelated healthy controls of Han Chinese individuals. A total of 17 tagging single nucleotide polymorphisms (SNPs) were firstly genotyped in the discovery stage, and single-SNP association and haplotypic association analyses have been performed. The SNP rs7023329 was found to be strongly associated with the OS risk (adjusted P = 0.002908), and the results of odds ratios (ORs) and 95% confidence intervals (CI) revealed increased risks from A allele of the SNP on OS (OR=1.33, 95% CI=1.13-1.62). The results were confirmed with a similar pattern in the validation stage (adjusted P = 0.006737, OR=1.49, 95% CI=1.11-2.00). Moreover, haplotypic analyses indicated that one haplotype block containing rs7023329 was significantly associated with OS risk in both stages (both global P<0.0001). The statistically significant association between the rs7023329 genotype and poor survival in OS patients was also observed. To sum up, our results prove that MTAP plays an important role in the etiology of OS, suggesting this gene as a potential genetic modifier for OS development. PMID:27994653

  4. Polymorphisms in FZD3 and FZD6 genes and risk of neural tube defects in a northern Han Chinese population.

    PubMed

    Shi, Ou-Yan; Yang, Hui-Yun; Shen, Yong-Ming; Sun, Wei; Cai, Chun-You; Cai, Chun-Quan

    2014-11-01

    Neural tube defects (NTDs) are the most common and severe malformations of the central nervous system. The association of single nucleotide polymorphisms (SNPs) of the Frizzled 3 (FZD3) and Frizzled 6 (FZD6) genes and NTDs in the Han population of northern China was principally studied. One synonymous SNP (rs2241802) in FZD3 gene and three nonsynonymous SNPs (rs827528, rs3808553 and rs12549394) in FZD6 gene were analyzed by polymerase chain reaction (PCR) and sequencing methods in 135 NTD patients and 135 normal controls. The allele, genotype and haplotype frequencies were calculated and analyzed to examine the relationship between FZD3/FZD6 SNPs and NTDs. Both T allele and TT genotype frequencies of the FZD6 rs3808553 loci in the NTDs group were significantly higher than those in the controls, and children with T allele and TT genotype were associated with increased NTDs risk (OR = 1.575, 95 % CI 1.112-2.230, P = 0.010 and OR = 2.811, 95 % CI 1.325-5.967, P = 0.023, respectively). There were no differences among different genotypes or alleles in other three SNPs. Haplotypes A-G-C and A-T-C in FZD6 were found associated with NTDs in the case-control study (OR = 0.560, 95 % CI 0.378-0.830, P = 0.004 and OR = 1.670, 95 % CI 1.126-2.475, P = 0.011, respectively). The rs3808553 of FZD6 is obviously associated with NTDs in Han population of northern China. The TT genotype may increase risk for NTDs.

  5. Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese.

    PubMed

    Zhou, Dai-zhan; Liu, Yun; Zhang, Di; Liu, Si-min; Yu, Lan; Yang, Yi-feng; Zhao, Teng; Chen, Zhuo; Kan, Meng-yuan; Zhang, Zuo-feng; Feng, Guo-yin; Xu, He; He, Lin

    2010-12-01

    Several genetic loci (JAZF1, CDC123/CAMK1D, TSPAN8/LGR5, ADAMTS9, VEGFA and HHEX-IDE) were identified to be significantly related to the risk of type 2 diabetes and quantitative metabolic traits in European populations. Here, we aimed to evaluate the impacts of these novel loci on type 2 diabetes risk in a population-based case-control study of Han Chinese (1912 cases and 2041 controls). We genotyped 13 single-nucleotide polymorphisms (SNPs) in/near these genes and examined the differences in allele/genotype frequency between cases and controls. We found that both IDE rs11187007 and HHEX rs1111875 were associated with type 2 diabetes risk (for both variants: odds ratio (OR)=1.15, 95% confidence interval (CI) 1.04-1.28, P=0.009). In a meta-analysis where we pooled our data with the three previous studies conducted in East Asians, we found that the variants of JAZF1 rs864745 (1.09 (1.03-1.16); P=3.49 × 10(-3)) and TSPAN8/LGR5 rs7961581 (1.11(1.05-1.17); P=1.89 × 10(-4)) were significantly associated with type 2 diabetes risk. In addition, the meta-analysis (7207 cases and 8260 controls) also showed that HHEX rs1111875 did have effects on type 2 diabetes in Chinese population (OR=1.15(1.10-1.21); P=1.93 × 10(-8)). This large population-based study and meta-analysis further confirmed the modest effects of the JAZF1, TSPAN8/LGR5 and HHEX-IDE loci on type 2 diabetes in Chinese and other East Asians.

  6. Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families.

    PubMed

    Zhang, Juanjuan; Jiang, Pingping; Jin, Xiaofen; Liu, Xiaoling; Zhang, Minglian; Xie, Shipeng; Gao, Min; Zhang, Sai; Sun, Yan-Hong; Zhu, Jinping; Ji, Yanchun; Wei, Qi-Ping; Tong, Yi; Guan, Min-Xin

    2014-09-01

    In this report, we investigated the molecular mechanism underlying Leber's hereditary optic neuropathy (LHON)-associated mitochondrial m.3635G>A (p.S110N, ND1) mutation. A mutational screening of ND1 gene in a cohort of 1070 Han Chinese subjects LHON identified the m.3635G>A mutation in nine Chinese families with suggestively maternally transmitted LHON. Thirty-eight (22 males/16 females) of 162 matrilineal relatives in these families exhibited the variable severity and age-at-onset of optic neuropathy. Molecular analysis of their mitochondrial genomes identified the homoplasmic m.3635G>A mutation and distinct sets of polymorphisms belonging to the Asian haplogroups G2a1, R11a, D4, R11a, M7b2, G1a, F1a1, B4, and N9a3, respectively. Using cybrids constructed by transferring mitochondria from lymphoblastoid cell lines derived from one Chinese family into mtDNA-less (ρ(0)) cells, we showed ~27% decrease in the activity of NADH:ubiquinone oxidoreductase (complex I) in mutant cybrids carrying the m.3635G>A mutation, compared with control cybrids. The respiratory deficiency caused by the m.3635G>A mutation results in decreased efficiency of mitochondrial ATP synthesis. These mitochondrial dysfunctions caused an increase in the production of reactive oxygen species in the mutant cybrids. The data provide the direct evidence for the m.3635G>A mutation leading to LHON. Our findings may provide new insights into the understanding of pathophysiology of LHON.

  7. Effect of CTLA-4 gene polymorphisms on long-term kidney allograft function in Han Chinese recipients

    PubMed Central

    Guo, Fang

    2016-01-01

    Single nucleotide polymorphisms (SNPs) of cytotoxic T lymphocyte associated antigen-4 gene (CTLA-4) have been associated with graft rejection and long-term clinical outcome after organ transplantation. Our aim was to examine the association between CTLA-4 SNPs (rs733618, rs4553808, rs5742909, rs231775, rs3087243) and long-term allograft function in Chinese renal transplant recipients. Genotyping of CTLA-4 SNPs was performed in 292 renal transplantation recipients. To assess long-term allograft function, the estimated glomerular filtration rate (eGFR) was determined 1, 3, 6, 12, 24, 36, 48 and 60 months after renal transplantation. CTLA-4 rs733618 and rs3087243 alleles and genotypes as well as the rs5742909 and rs231775 genotypes were significantly associated with long-term allograft function after transplantation (P<0.05). Patients with favorable genotypes had higher allograft function during the 60 months after transplantation. The TACGG, CACAG and CGTAA haplotypes were also associated with long-term kidney function after renal transplantation (P<0.05 or P<0.01). In sum, the favorable CTLA-4 rs5742909TT genotype, CTLA-4 rs733618C and rs3087243A alleles, and CACAG and CGTAA haplotypes, as well as the unfavorable rs733618TT, rs3087243GG and rs231775GG genotypes and TACGG haplotype could potentially serve as effective indicators of long-term allograft function in Chinese renal transplantation recipients. PMID:27081086

  8. Potentially Functional Polymorphisms in POU5F1 Gene Are Associated with the Risk of Lung Cancer in Han Chinese.

    PubMed

    Niu, Rui; Wang, Yuzhuo; Zhu, Meng; Wen, Yifan; Sun, Jie; Shen, Wei; Cheng, Yang; Zhang, Jiahui; Jin, Guangfu; Ma, Hongxia; Hu, Zhibin; Shen, Hongbing; Dai, Juncheng

    2015-01-01

    POU5F1 is a key regulator of self-renewal and differentiation in embryonic stem cells and may be associated with initiation, promotion, and progression in cancer. We hypothesized that functional polymorphisms in POU5F1 may play an important role in modifying the lung cancer risk. To test this hypothesis, we conducted a case-control study to explore the association between 17 potentially functional SNPs in POU5F1 gene and the lung cancer risk in 1,341 incident lung cancer cases and 1,982 healthy controls in a Chinese population. We found that variant alleles of rs887468 and rs3130457 were significantly associated with increased risk of lung cancer after multiple comparison (OR = 1.29, 95% CI: 1.11-1.51, P fdr = 0.017 for rs887468; OR = 1.29, 95% CI: 1.10-1.51, P fdr = 0.034 for rs3130457, resp.). In addition, we detected a significant interaction between rs887468 genotypes and smoking status on lung cancer risk (P = 0.017). Combined analysis of these 2 SNPs showed a significant allele-dosage association between the number of risk alleles and increased risk of lung cancer (P trend < 0.001). These findings indicate that potentially functional polymorphisms in POU5F1 gene may contribute to lung cancer susceptibility in a Chinese population.

  9. Potentially Functional Polymorphisms in POU5F1 Gene Are Associated with the Risk of Lung Cancer in Han Chinese

    PubMed Central

    Niu, Rui; Wang, Yuzhuo; Zhu, Meng; Wen, Yifan; Sun, Jie; Shen, Wei; Cheng, Yang; Zhang, Jiahui; Jin, Guangfu; Ma, Hongxia; Hu, Zhibin; Shen, Hongbing; Dai, Juncheng

    2015-01-01

    POU5F1 is a key regulator of self-renewal and differentiation in embryonic stem cells and may be associated with initiation, promotion, and progression in cancer. We hypothesized that functional polymorphisms in POU5F1 may play an important role in modifying the lung cancer risk. To test this hypothesis, we conducted a case-control study to explore the association between 17 potentially functional SNPs in POU5F1 gene and the lung cancer risk in 1,341 incident lung cancer cases and 1,982 healthy controls in a Chinese population. We found that variant alleles of rs887468 and rs3130457 were significantly associated with increased risk of lung cancer after multiple comparison (OR = 1.29, 95% CI: 1.11–1.51, Pfdr = 0.017 for rs887468; OR = 1.29, 95% CI: 1.10–1.51, Pfdr = 0.034 for rs3130457, resp.). In addition, we detected a significant interaction between rs887468 genotypes and smoking status on lung cancer risk (P = 0.017). Combined analysis of these 2 SNPs showed a significant allele-dosage association between the number of risk alleles and increased risk of lung cancer (Ptrend < 0.001). These findings indicate that potentially functional polymorphisms in POU5F1 gene may contribute to lung cancer susceptibility in a Chinese population. PMID:26824036

  10. The mutation profile of JAK2 and CALR in Chinese Han patients with Philadelphia chromosome-negative myeloproliferative neoplasms

    PubMed Central

    2014-01-01

    Mutations in JAK2, MPL and CALR are highly relevant to the Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPNs). We performed high resolution melting analysis and Sanger sequencing together with T-A cloning to elucidate the unique mutation profile of these genes, in Chinese patients with MPNs. Peripheral blood DNA samples were obtained from 80 patients with polycythemia vera (PV), 80 patients with essential thrombocytosis (ET) and 50 patients with primary myelofibrosis (PMF). Ten PV patients were identified with diverse JAK2 exon 12 mutations. Five novel JAK2 Exon 12 mutation patterns (M532V/E543G, N533D, M535I/H538Y/K549I, E543G and D544N) were described. JAK2 V617F was detected in 140 samples (66 PV, 45 ET and 29 PMF). JAK2 Exon 12 mutations were prevalent (13%) and variable in the Chinese patients. Compared with PV patients with JAK2 V617F mutations, PV patients with JAK2 exon 12 mutations had an earlier median onset of disease (P = 0.0013). MPL W515L/K mutations were discerned in 4 ET and 3 PMF patients. Two kinds of CALR mutation, c. 1179_1230del and c. 1234_1235insTTGTC were detected in 20 ET and 16 PMF patients. A novel CALR mutation pattern (c. 1173_1223del/c. 1179_1230del) was identified in 2 PMF samples. In addition, 17 scattered point mutations in CALR c.1153 to c.1255 were also detected in 13 cases with CALR frame-shifting variations and 2 cases without CALR frame-shifting variations. Female patients showed a predisposition to CALR mutations (P = 0.0035). Chinese Ph-negative MPN patients have a unique mutation landscape in the common molecular markers of MPN diagnosis. Validation of the molecular diagnostic pipeline should be emphasized since there is a considerable ethnical diversity in the molecular profiles of Ph-negative MPNs. PMID:25023898

  11. The mutation profile of JAK2 and CALR in Chinese Han patients with Philadelphia chromosome-negative myeloproliferative neoplasms.

    PubMed

    Wu, Zhiyuan; Zhang, Xinju; Xu, Xiao; Chen, Yuming; Hu, Tingting; Kang, Zhihua; Li, Shibao; Wang, Hua; Liu, Weiwei; Ma, Xiaochao; Guan, Ming

    2014-07-15

    Mutations in JAK2, MPL and CALR are highly relevant to the Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPNs). We performed high resolution melting analysis and Sanger sequencing together with T-A cloning to elucidate the unique mutation profile of these genes, in Chinese patients with MPNs. Peripheral blood DNA samples were obtained from 80 patients with polycythemia vera (PV), 80 patients with essential thrombocytosis (ET) and 50 patients with primary myelofibrosis (PMF). Ten PV patients were identified with diverse JAK2 exon 12 mutations. Five novel JAK2 Exon 12 mutation patterns (M532V/E543G, N533D, M535I/H538Y/K549I, E543G and D544N) were described. JAK2 V617F was detected in 140 samples (66 PV, 45 ET and 29 PMF). JAK2 Exon 12 mutations were prevalent (13%) and variable in the Chinese patients. Compared with PV patients with JAK2 V617F mutations, PV patients with JAK2 exon 12 mutations had an earlier median onset of disease (P = 0.0013). MPL W515L/K mutations were discerned in 4 ET and 3 PMF patients. Two kinds of CALR mutation, c. 1179_1230del and c. 1234_1235insTTGTC were detected in 20 ET and 16 PMF patients. A novel CALR mutation pattern (c. 1173_1223del/c. 1179_1230del) was identified in 2 PMF samples. In addition, 17 scattered point mutations in CALR c.1153 to c.1255 were also detected in 13 cases with CALR frame-shifting variations and 2 cases without CALR frame-shifting variations. Female patients showed a predisposition to CALR mutations (P = 0.0035). Chinese Ph-negative MPN patients have a unique mutation landscape in the common molecular markers of MPN diagnosis. Validation of the molecular diagnostic pipeline should be emphasized since there is a considerable ethnical diversity in the molecular profiles of Ph-negative MPNs.

  12. Association study between growth differentiation factor 5 polymorphism and non-contact anterior cruciate ligament rupture in Chinese Han population

    PubMed Central

    Chen, Biao; Li, Bin; Qi, Yong-Jian; Tie, Kai; Chen, Liao-Bin

    2015-01-01

    Background: Anterior cruciate ligament (ACL) rupture is the most common ligamentous injury for active adolescents and young adults each year. However, the precise etiologies of ACL injury are not fully understood. The present study was to investigate +104T/C polymorphism of growth differentiation factor 5 (GDF5) gene in patients with ACL rupture, and evaluate the effects of polymorphism on GDF5 mRNA levels in ligament of patients with ACL rupture in central China. Methods: A total of 286 Chinese patients with ACL rupture and 500healthy controls were enrolled in this study. The +104T/C polymorphism in GDF5 gene were genotyped by DNA sequencing. GDF5 mRNA expressions levels in ligament were determined by quantitative PCR. Results: The frequency of the TT genotype tended to be higher in ACL rupture group than in control group (62.6% vs. 48.0%, P< 0.001, OR = 1.81, 95% CI: 1.35-2.44). T allele of the GDF5 +104T/C polymorphism was more common in ACL rupture group than in control group (P< 0.001). Patients carrying TT genotype expressed lower levels of GDF5 mRNA than C carriers (P = 0.005) among ACL rupture. Conclusion: Our study indicated that GDF5 +104T/C polymorphism was associated with ACL rupture patients in central China. This is likely from decreased expressions of GDF5 mRNA. Further studies are necessary to explore the functional implication of the GDF5 +104T/C polymorphism in Chinese ACL rupture patients. PMID:26885231

  13. CYP1B1 C4326G polymorphism and susceptibility to cervical cancer in Chinese Han women.

    PubMed

    Li, Ya; Tan, Shi-Qiao; Ma, Qian-Hong; Li, Lei; Huang, Zhong-Ying; Wang, Yan; Li, Shang-Wei

    2013-12-01

    Cytochrome P450 1B1 (CYP1B1) is a key P450 enzyme, which could catalyze the formation of 4-hydroxy estrogen metabolites and play a role in estrogen-dependent cancers. We hypothesized that genetic variant in CYP1B1 may modify individual susceptibility to cervical cancer. The aim of this study was to evaluate the association between CYP1B1 C4326G polymorphism and cervical cancer risk in Chinese women. We extracted the peripheral blood samples in 250 patients with cervical cancer and 250 female controls. The matrix-assisted laser desorption ionization time-of-flight mass spectrometry method and direct DNA sequencing were performed to detect the polymorphism. The frequencies of CC, CG, and GG genotypes of CYP1B1 C4326G in cases and controls were 66.0, 26.8, 7.2% and 75.2, 21.6, and 3.2%, respectively, and there was a significant difference between the two groups (P = 0.034). Compared with the wild-type CC genotype, the variant GG genotype was associated with a significantly increased risk of cervical cancer (adjusted OR = 2.30; 95% CI = 1.02, 5.50). Moreover, stratification analysis by age, smoking, drinking, human papillomaviruses (HPV) 16 or 18 carrier status, and family history of cervical cancer, we found that the variant genotypes containing the G allele were associated with a significantly increased risk of cervical cancer among HPV 16 or 18-positive individuals (adjusted OR = 2.85; 95% CI = 1.45, 5.62) and among women younger than 45 years old (adjusted OR = 1.87; 95% CI = 1.03, 3.37). These results suggest that CYP1B1 C4326G polymorphism may increase risk of cervical cancer in Chinese women, especially among young individuals with high-risk HPV infection.

  14. Association between ALDH1L1 gene polymorphism and neural tube defects in the Chinese Han population.

    PubMed

    Wu, Lihua; Lu, Xiaolin; Guo, Jin; Zhang, Ting; Wang, Fang; Bao, Yihua

    2016-07-01

    We investigated single-nucleotide polymorphisms (SNPs) in the aldehyde dehydrogenase family1 L1 gene (ALDH1L1) and their association with neural tube defects (NTDs) in the Chinese population. A total of 271 NTDs cases and 192 healthy controls were used in this study. A total of 112 selected SNPs in the ALDH1L1 gene were analyzed using the next-generation sequencing method. Statistical analysis was carried out to investigate the correlation between SNPs and patient susceptibility to NTDs. Statistical analysis revealed a significant correlation between the SNP sites rs4646733, rs2305225, and rs2276731 in the ALDH1L1 gene and NTDs. The TT genotype and T allele of rs4646733 in ALDH1L1 were associated with a significantly increased incidence of NTDs [odds ratio (OR) = 2.16, 95 % confidence interval (CI) 1.199-3.896 for genotype; and OR = 1.46, 95 % CI 1.092-1.971 for allele]. The AA genotype and A allele of rs2305225 in ALDH1L1 were associated with a significantly increased incidence of NTDs (OR = 2.03, 95 % CI 1.202-3.646 for genotype, and OR = 1.44, 95 % CI 1.096-1.905 for allele). The CT genotype and C allele of rs2276731 in ALDH1L1 significantly were associated with an increased incidence of NTDs (OR = 1.67, 95 % CI 1.129-2.491 with genotype, and OR = 1.32, 95 % CI 0.956-1.816 with allele).The polymorphic loci rs4646733, rs2305225, and rs2276731 in the ALDH1L1 gene maybe potential risk factors for NTDs in the Chinese population.

  15. Correlation between the NPPB gene promoter c.-1298 G/T polymorphism site and pulse pressure in the Chinese Han population.

    PubMed

    Zeng, K; Wu, X D; Cai, H D; Gao, Y G; Li, G; Liu, Q C; Gao, F; Chen, J H; Lin, C Z

    2014-04-29

    The aim of this study was to investigate the correlation between the natriuretic peptide precursor B (NPPB) gene single nucleotide polymorphism (SNP) c.-1298 G/T and pulse pressure (PP) of the Chinese Han population and the association between genotype and clinical indicators of hypertension. Peripheral blood was collected from 180 unrelated patients with hypertension and 540 healthy volunteers (control group), and DNA was extracted to amplify the 5'-flanking region and 2 exons of the NPPB gene by polymerase chain reaction; the fragment was sequenced after purification. The clinical data of all subjects were recorded, the distribution of the NPPB gene c.-1298 G/T polymorphism was determined, and differences in clinical indicators between the two groups were evaluated. The mean arterial pressure PP, and creatinine levels were significantly higher in the hypertension group than in the control group (P<0.05), but no other clinical indicators differed between the groups. There were no significant differences in genotype frequency and distribution of the NPPB gene c.-1298 G/T polymorphism between the hypertension group and the control group (P>0.05); in the control group, the mean PP of individuals with the SNP c.-1298 GG genotype was greater than that of individuals with the GT+TT genotype (P<0.05). In conclusion, there was no significant correlation between the NPPB gene c.-1298 G/T polymorphism and the incidence of essential hypertension in the Han population; however, the PP of the SNP c.-1298 GG genotype was greater than that of the GT+TT genotype in the control group.

  16. [HLA-B*15 gene polymorphism of registered bone marrow from donors in north Chinese Han population typed by PCR-SBT].

    PubMed

    Qi, Jun; Liu, Meng-Li; Zhang, Yan; Liu, Sheng; Shen, Chun-Mei

    2008-04-01

    To investigate the characteristics of the allele distribution of HLA-B*15 gene family in Chinese Han population and to study its influence on the selection of clinical transplantation donor, population of a 815 Han in north China from Shaanxi sub-registry of Chinese National Marrow Donor Project was randomly selected and out of them 206 HLA-B*15 positive samples according to the previous known low-resolution typing results were acquired. HLA-B*15 gene polymorphisms of above-mentioned samples and other 17 individuals were analyzed for the first time by polymerase chain reaction sequence-based typing (PCR-SBT) at high-resolution level. The structure differentiation of all HLA-B*15 alleles were analyzed by HLA three-dimensional structure modeling and software Swiss-PdbViewer. The results showed that the distribution of HLA-A, -B, -DRB1 gene of randomly selected 815 samples accorded with Hardy-Weinberg equilibrium and the gene frequency of HLA-B*15 was 0.1379. There were a total of 16 kinds of alleles of HLA-B*15 gene family to be obtained, which belonged to 7 kinds of serologic specificities. HLA-B*1501, B*1511, B*1502 and B*1518 were the major alleles with a frequency of 0.0485, 0.0215, 0.0178 and 0.0160 respectively, and the constituent ratio of their accumulated frequencies was 75.11%. The each frequency of the other 12 kinds of B*15 alleles was lower than 0.0100. Among the homozygote of 10 samples at low/medial-resolution level, there were only 4 samples to be pur sang homozygote of HLA-B*15xx, --at high-resolution level, and all the homozygote were constituted by respective dominating alleles. HLA three-dimensional structure modeling demonstrated that within the same specificity, gentle structure differentiation not only existed, such as B*1501, 1505, 1507, 1525, 1527, 1532 (each RMSD

  17. Genetic variation in the ABCG2 gene is associated with gout risk in the Chinese Han population.

    PubMed

    Jiri, Mutu; Zhang, Le; Lan, Bing; He, Na; Feng, Tian; Liu, Kai; Jin, Tianbo; Kang, Longli

    2016-01-01

    Gout is a common type of arthritis that is characterized by hyperuricemia, tophi, and joint inflammation. Current evidence suggests that heredity contributes to the progression of gout. Previous studies have shown that regulation of the ATP-binding cassette subfamily G member 2 (ABCG2) pathways plays a role in gout occurrence. To investigate and validate potential genetic associations with the risk of gout, we conducted a case-control study. We conducted 143 cases and 310 controls and genotyped seven single-nucleotide polymorphisms (SNPs) in ABCG2 gene. ABCG2 SNP association analyses were performed using SPSS 17.0 Statistical Package, PLINK Software, HaploView software package, and SHEsis software platform. We identified that four susceptibility SNPs were potentially associated with occurrence of gout. Rs2622621 and rs3114018 in ABCG2 can actually increase the risk of gout in log-additive model (rs2622621, odds ratio (OR) = 1.90, 95% confidence interval (CI) 1.39-2.61, p < 0.001; rs3114018, OR = 1.55, 95% CI 1.13-2.13, p = 0.006). We found that rs17731799G/T-G/G and rs3114020 T/C-T/T in ABCG2 can actually increase the risk of gout in dominant model (rs17731799, OR = 1.67, 95% CI 1.05-2.66, p = 0.028; rs3114020, OR = 1.58, 95% CI 1.00-2.51, p = 0.048). The ABCG2 haplotype "GGCTCTC" (OR = 0.46, 95% CI 0.28-0.75, p = 0.0019) decreased the gout risk. Our results, combined with those from previous studies, suggest that genetic variation in ABCG2 may influence gout susceptibility in the Han population.

  18. Association Study of Germline Variants in CCNB1 and CDK1 with Breast Cancer Susceptibility, Progression, and Survival among Chinese Han Women

    PubMed Central

    Li, Yan; Chen, Yi-Lin; Xie, Yun-Tao; Zheng, Li-Yuan; Han, Ji-Yuan; Wang, Hui; Tian, Xin-Xia; Fang, Wei-Gang

    2013-01-01

    The CCNB1 and CDK1 genes encode the proteins of CyclinB1 and CDK1 respectively, which interact with each other and are involved in cell cycle regulation, centrosome duplication and chromosome segregation. This study aimed to investigate whether the genetic variants in these two genes may affect breast cancer (BC) susceptibility, progression, and survival in Chinese Han population using haplotype-based analysis. A total of ten tSNPs spanning from 2kb upstream to 2kb downstream of these genes were genotyped in 1204 cases and 1204 age-matched cancer-free controls. The haplotype blocks were determined according to our genotyping data and linkage disequilibrium (LD) status of these SNPs. For CCNB1, rs2069429 was significantly associated with increased BC susceptibility under recessive model (OR=2.352, 95%CI=1.480-3.737), so was the diplotype TAGT/TAGT (OR=1.947 95%CI=1.154-3.284, P=0.013). In addition, rs164390 was associated with Her2-negative BC. For CDK1, rs2448343 and rs1871446 were significantly associated with decreased BC risk under dominant models, so was the haplotype ATATT. These two SNPs also showed a dose-dependent effect on BC susceptibility. Using stratified association analysis, we found that women with the heterozygotes or minor allele homozygotes of rs2448343 had much less BC susceptibility among women with BMI<23. In CDK1, three closely located SNPs, rs2448343, rs3213048 and rs3213067, were significantly associated with tumor’s PR status: the heterozygotes of rs2448343 were associated with PR-positive tumors, while the minor allele homozygotes of rs3213048 and heterozygotes of rs3213067 were associated with PR-negative BC tumors. In survival analysis, rs1871446 was associated with unfavorable event-free survival under recessive model, so was the CDK1 diplotype ATATG/ATATG, which carried the minor allele homozygote of rs1871446. Our study indicates that genetic polymorphisms of CCNB1 and CDK1 are related to BC susceptibility, progression, and survival

  19. Association of HLA-B*51:01 with Papillary Thyroid Carcinoma in the Chinese Han Population of the Shandong Coastal Areas

    PubMed Central

    Xiaoyun, Chi; Zhihui, Feng; Xiaohua, Liu; Zhanhui, Du; Bin, Hu; Lin, Zhao

    2014-01-01

    Background: A lot of work has been done to study the association between human leukocyte antigen (HLA) and papillary thyroid carcinoma (PTC) in various populations. But the results of the currently available studies are not consistent. The aim of this study was to evaluate the association of HLA-A, -B, -C, -DRB1, and -DQB1 with PTC in the Chinese Han population of the coastal areas of Shandong Province with respect to age and sex. Methods: A total of 154 patients diagnosed with PTC were analyzed for HLA-A, -B, -C, -DRB1, and -DQB1 alleles by using a polymerase chain reaction sequence-based typing (PCR-SBT) method. Two hundred unrelated healthy individuals were typed as controls. Results: Compared with the controls, the HLA-B*51:01 (8.8% vs. 4.5%, p=0.029, OR 2.039 [CI 1.101–3.775]) and HLA-C*07:06 (2.6% vs. 0.5%, p=0.024, OR 5.307 [CI 1.119–25.171]) allele frequencies were higher in the PTC patients, while the HLA-C*07:01 (1.3% vs. 6.0%, p=0.001, OR 0.206 [CI 0.071–0.601]) allele frequency was lower in the PTC patients that did not persist after Bonferroni correction for multiple tests. This showed no statistically significant correlation of the HLA-A, -DRB1, and -DQB1 alleles and PTC. The incidence of PTC was more frequent in females between 30 and 60 years old. There were no significant differences in the age and sex distributions between the total and the HLA-B*51:01 positive PTC patients. Conclusions: The HLA associations in this Chinese Han population differ markedly from studies done in Europeans and Caucasians. The results reveal that HLA-B*51:01 is more likely to be a susceptible allele for PTC in addition to age and sex in the coastal areas of Shandong Province. PMID:24308748

  20. Investigation into the association between P2RX7 gene polymorphisms and susceptibility to primary gout and hyperuricemia in a Chinese Han male population.

    PubMed

    Ying, Ying; Chen, Yong; Li, Zhen; Huang, Haiyan; Gong, Qiongyao

    2017-02-27

    The purpose of this study was to investigate the relationship between P2RX7 gene single nucleotide polymorphisms and primary gout and hyperuricemia in a Chinese Han male population. The genetic distributions of the single nucleotide polymorphisms (SNPs) rs2230911, rs208294, rs435309, rs28360447, rs1718119, rs28360457, and rs3751143 in P2RX7 were detected in 293 primary gout patients, 187 hyperuricemia patients and 269 controls using SNaPshot technology. Statistical analyses were implemented using SPSS version 20.0. The genetic distributions of each group were tested for Hardy-Weinberg equilibrium (HWE). T test, analysis of variance, rank sum test and Chi-square test were measured to assess differences in clinical data and polymorphisms among groups. Logistic regression was used to assess susceptibility to disease with odds ratios (ORs) and 95% confidence intervals (95% CIs). SHEsis software was used to calculate linkage disequilibrium blocks and haplotype association risk. P < .05 was regarded as statistically significant. Three SNPs (rs2230911, rs208294 and rs435309) did not deviate significantly from HWE (P > .05). In the comparison between primary gout and control, the frequencies of rs2230911 genotypes were significantly different (P = .002), and allele G was associated with a higher risk of primary gout than allele C [OR (95% CI) = 1.755 (1.278, 2.410), P < .001]. There was also a higher risk of primary gout in genotype (CG + GG) compared with genotype CC [OR (95% CI) = 1.876 (1.303, 2.701), P = .001]. However, no significant difference in allelic or genotypic frequency was observed between primary gout patients and hyperuricemia patients (P > .0167). Similarly, there were no obvious differences in the other two polymorphisms among the three groups (P > .05). Our results reveal that P2RX7 rs2230911 may be associated with primary gout risk in a Chinese Han male population and allele G may be a susceptibility factor for

  1. Over time, do anthropometric measures still predict diabetes incidence in chinese han nationality population from chengdu community?

    PubMed

    Liu, Kai; He, Sen; Hong, Biying; Yang, Rui; Zhou, Xiaoyan; Feng, Jiayue; Wang, Si; Chen, Xiaoping

    2013-01-01

    Objective. To examine whether anthropometric measures could predict diabetes incidence in a Chinese population during a 15-year follow-up. Design and Methods. The data were collected in 1992 and then again in 2007 from the same group of 687 individuals. Waist circumference, body mass index, waist to hip ratio, and waist to height ratio were collected based on a standard protocol. To assess the effects of baseline anthropometric measures on the new onset of diabetes, Cox's proportional hazards regression models were used to estimate the hazard ratios of them, and the discriminatory power of anthropometric measures for diabetes was assessed by the area under the receiver operating curve (AROC). Results. Seventy-four individuals were diagnosed with diabetes during a 15-year follow-up period (incidence: 10.8%). These anthropometric measures also predicted future diabetes during a long follow-up (P < 0.001). At 7-8 years, the AROC of central obesity measures (WC, WHpR, WHtR) were higher than that of general obesity measures (BMI) (P < 0.05). But, there were no significant differences among the four anthropometric measurements at 15 years. Conclusions. These anthropometric measures could still predict diabetes with a long time follow-up. However, the validity of anthropometric measures to predict incident diabetes may change with time.

  2. Evaluation of regulatory genetic variants in POU5F1 and risk of congenital heart disease in Han Chinese

    NASA Astrophysics Data System (ADS)

    Lin, Yuan; Ding, Chenyue; Zhang, Kai; Ni, Bixian; da, Min; Hu, Liang; Hu, Yuanli; Xu, Jing; Wang, Xiaowei; Chen, Yijiang; Mo, Xuming; Cui, Yugui; Shen, Hongbing; Sha, Jiahao; Liu, Jiayin; Hu, Zhibin

    2015-10-01

    OCT4 is a transcription factor of the POU family, which plays a key role in embryonic development and stem cell pluripotency. Previous studies have shown that Oct4 is required for cardiomyocyte differentiation in mice and its depletion could result in cardiac morphogenesis in embryo. However, whether the genetic variations in OCT4 coding gene, POU5F1, confer the predisposition to congenital heart disease (CHD) is unclear. This study sought to investigate the associations between low-frequency (defined here as having minor allele frequency (MAF) between 0.1%-5%) and rare (MAF below 0.1%) variants with potential function in POU5F1 and risk of CHD. We conducted association analysis in a two-stage case-control study with a total of 2,720 CHD cases and 3,331 controls in Chinese. The low-frequency variant rs3130933 was observed to be associated with a significantly increased risk of CHD [additive model: adjusted odds ratio (OR) = 2.15, adjusted P = 3.37 × 10-6]. Furthermore, luciferase activity assay showed that the variant A allele led to significantly lower expression levels as compared to the G allele. These findings indicate for the first time that low-frequency functional variant in POU5F1 may contribute to the risk of congenital heart malformations.

  3. Genetic polymorphisms of drug-metabolizing phase I enzymes CYP3A4, CYP2C9, CYP2C19 and CYP2D6 in Han, Uighur, Hui and Mongolian Chinese populations.

    PubMed

    Zuo, Jinliang; Xia, Dongya; Jia, Lihui; Guo, Tao

    2012-07-01

    We randomly evaluated 672 unrelated, healthy Chinese volunteers (136 Han, 214 Uighur, 164 Hui and 158 Mongolian) to compare CYP3A4, CYP2C9, CYP2C19 and CYP2D6 allele frequencies. Genomic DNA was extracted from peripheral leukocytes and genotyped for CYP3A4*5, CYP3A4*18, CYP2C9*2, CYP2C9*13, CYP2C19*2, CYP2C19*3 and CYP2D6*10 by PCR-restriction fragment length polymorphism analysis (PCR-RFLP). Our results showed that there is no significant difference in the distribution of CYP2C19*3 and CYP3A4*18 genotypes in the Han, Uighur, Hui and Mongolian Chinese populations. The CYP2C9*13/*13 and CYP3A4*5 genotypes were not observed in any of the four Chinese populations. We found a higher incidence of the CYP2C9*2 allele in Uighur populations, compared to the Han, Hui and Mongolian populations. The incidence of the CYP2C19*2 allele in the Han population was not significantly different from that in the Uighur, Hui or Mongolian populations; however, the Uighur population showed significantly lower rates of this allele than the Hui and Mongolian populations, and the Mongolian population had a significantly lower incidence of this allele than the Hui population. There was no significant difference in the presence of the CYP2D6*10 allele in the Mongolian, Han or Hui populations. However, the Uighur population showed significantly lower rates of this allele than the other three populations. These findings provide basic genetic information for further pharmacogenomic investigations in the Chinese population.

  4. Association of an Exon SNP of SLC2A9 Gene with Hyperuricemia Complicated with Type 2 Diabetes Mellitus in the Chinese Male Han Population.

    PubMed

    Xing, Shi-Chao; Wang, Xu-Fu; Miao, Zhi-Min; Zhang, Xue-Zhi; Zheng, Jun; Yuan, Ying

    2015-04-01

    Several recent genome-wide association studies and following studies have identified that genetic variants of SLC2A9 are associated with hyperuricemia (HUA) and diabetes mellitus (DM). Here, we set to investigate whether the exon 9 of SLC2A9 gene variations is associated with HUA complicated with Type 2 DM (T2DM) in the Chinese male Han population. The present study was designed to study rs2280205 polymorphism in exon 9 of SLC2A9 in 232 Chinese male subjects. Rs2280205 locus was genotyped in 52 T2DM subjects, 65 HUA subjects, 55 subjects with HUA complicated with T2DM, as well as 60 control subjects in this study. DNA from peripheral blood was purified and amplified by polymerase chain reaction (PCR). The PCR products were then digested by restriction enzyme MSPI, and part of PCR products was sequenced and analyzed. There was no significant difference in the levels of cholesterol, creatinine, and urea nitrogen between the Control Group and the HUA group. There was also no significant difference in levels of cholesterol between the DM group and Control Group. No significant difference in cholesterol and uric acid was observed between the HUA group and the HUA accompanied with DM group (P > 0.05). However, there was no statistical significance in the genotype frequency in these groups (P > 0.01). Results of the present study suggest that the exon 9 of SLC2A9 gene 109C/T polymorphism is not associated with HUA and diabetes in population living in the coastal area of Shandong province, China.

  5. Low-frequency germline variants across 6p22.2–6p21.33 are associated with non-obstructive azoospermia in Han Chinese men

    PubMed Central

    Ni, Bixian; Lin, Yuan; Sun, Liangdan; Zhu, Meng; Li, Zheng; Wang, Hui; Yu, Jun; Guo, Xuejiang; Zuo, Xianbo; Dong, Jing; Xia, Yankai; Wen, Yang; Wu, Hao; Li, Honggang; Zhu, Yong; Ping, Ping; Chen, Xiangfeng; Dai, Juncheng; Jiang, Yue; Xu, Peng; Du, Qiang; Yao, Bing; Weng, Ning; Lu, Hui; Wang, Zhuqing; Zhu, Xiaobin; Yang, Xiaoyu; Xiong, Chenliang; Ma, Hongxia; Jin, Guangfu; Xu, Jianfeng; Wang, Xinru; Zhou, Zuomin; Liu, Jiayin; Zhang, Xuejun; Conrad, Donald F.; Hu, Zhibin; Sha, Jiahao

    2015-01-01

    Genome-wide association studies (GWAS) have identified several common loci contributing to non-obstructive azoospermia (NOA). However, a substantial fraction of NOA heritability remains undefined, especially those low-frequency [defined here as having a minor allele frequency (MAF) between 0.5 and 5%] and rare (MAF below 0.5%) variants. Here, we performed a 3-stage exome-wide association study in Han Chinese men to evaluate the role of low-frequency or rare germline variants in NOA development. The discovery stage included 962 NOA cases and 1348 healthy male controls genotyped by exome chips and was followed by a 2-stage replication with an additional 2168 cases and 5248 controls. We identified three low-frequency variants located at 6p22.2 (rs2298090 in HIST1H1E encoding p.Lys152Arg: OR = 0.30, P = 2.40 × 10−16) and 6p21.33 (rs200847762 in FKBPL encoding p.Pro137Leu: OR = 0.11, P = 3.77 × 10−16; rs11754464 in MSH5: OR = 1.78, P = 3.71 × 10−7) associated with NOA risk after Bonferroni correction. In summary, we report an instance of newly identified signals for NOA risk in genes previously undetected through GWAS on 6p22.2–6p21.33 in a Chinese population and highlight the role of low-frequency variants with a large effect in the process of spermatogenesis. PMID:26199320

  6. CYP3A4 and CYP2C19 genetic polymorphisms and zolpidem metabolism in the Chinese Han population: a pilot study.

    PubMed

    Shen, Min; Shi, Yan; Xiang, Ping

    2013-04-10

    Zolpidem (ZPD) is an imidazopyridine hypnotic and little is known about the pharmacogenetics of ZPD. Our objective was to evaluate inter-individual genetic variation in conjunction with metabolic ratios of ZPD found in a toxicological analysis. Healthy individuals (n=300) were genotyped for CYP2D6, CYP2C19, CYP2C9, CYP3A4 and CYP1A2 by allele-specific primer extension followed by matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry (MALDI-TOF MS). Twenty-four Chinese volunteers were chosen and divided into the following four groups (n=6/group): group 1: CYP3A4*18 (wild-type, W), CYP2C19*2 (W); group 2: CYP3A4*18 (mutant, M), CYP2C19*2 (W); group 3: CYP3A4*18 (W), CYP2C19*2 (M); and group 4: CYP3A4*18 (M), CYP2C19*2 (M). ZPD and its major metabolites zolpidem 6-carboxylic acid (ZCA) and zolpidem phenyl-4-carboxylic acid (ZPCA) were determined after oral administration of ZPD (10mg), using an UPLC-MS/MS method. Positive correlations between CYP3A4 and CYP2C19 alleles and ZPD metabolism were found. The results of this study show that CYP3A4*18 increases CYP3A4 activity while CYP2C19*2 reduces CYP2C19 activity; the latter mutation is associated with the poor metabolism of ZPD in the Chinese Han population. The results also suggest that genetic factors play a major role in the metabolism of individual drugs with implications for both forensic science and clinical pharmacogenetics.

  7. Population pharmacokinetics of modafinil in Chinese Han, Mongolian, Korean, Uygur, and Hui healthy subjects determined by nonlinear mixed-effects modeling.

    PubMed

    Tao, Guo; Longshan, Zhao; Kehua, Wu; Dongya, Xia; Wei, Lu; Zheng, Guan; Chenhui, Deng

    2010-04-01

    Modafinil is being used as a novel wake-promoting psychostimulant. To develop rational dosing schemes, given that China has 56 ethnicities that may have various response to modafinil, it is essential to characterize the population pharmacokinetics of modafinil in some selected ethnicities. One- and two-compartment models were used to fit the plasma concentration time data of 49 Chinese healthy volunteers, including the ethnicities of Han, Mongolian, Korean, Uygur, and Hui, using the nonlinear mixed-effects modeling approach. The data were best described using a two-compartment model with linear elimination. The influences of ethnicity, sex, height, body weight, and body mass index on modafinil pharmacokinetic parameters were investigated. The estimated population parameters of modafinil were as follows: clearance of central compartment was 3.51 L/h and clearance of intercompartment was 7.41 L/h; the volume of the central compartment was 3.85 L and the volume of the peripheral compartment was 45.8 L. The interindividual variability in clearance of central compartment and clearance of intercompartment were 23.2% and 22.1%, and in volume of the central compartment and volume of the peripheral compartment were 90.9% and 16.6%, respectively. A population pharmacokinetic model was established and validated, which adequately described the population pharmacokinetics of modafinil in Chinese healthy volunteers. The results indicated that sex has a significant effect on the metabolism of modafinil, whereas ethnicity has a significant effect on the volume of the central compartment. A good fit was achieved from the population pharmacokinetic analysis that could assist in establishing appropriate modafinil dose regimens.

  8. Eastern Han's Cunning Depiction

    NASA Astrophysics Data System (ADS)

    Chiu, B. C.

    1998-09-01

    It is still only speculation, but an earlier visit to a Han dynasty (202 BC - 220 AD) tomb has started the idea, and a recently found study of another Han tomb has convinced me it is worth pursuing. What it is is that the ancient Chinese Sky Animal which represents North was not the turtle or tortoise until about the time of Han. My own visit was to an Eastern (later period) Han tomb which had been moved to a museum near the ancient capital of Luoyang. The ceiling of the inner chamber was rounded, made of brick. Drawings of a tiger and a red bird were clear to the west and south. A rounded object was at the north. Outside the tomb was a sign which said it was 'cun,' which means village. Chinese characters often have homonyms, but 'cun' has few. I have also visited the neolithic village of Banpo, near the Yellow River in the north. It has noticeably large and deep trenches to keep out wild animals, and one separates the residential area from the business area. This village is dated earlier than 4000 BC. The trenches definitely remind me of later depictions of the turtle with a snake wound about it. The recent findings of a tomb at Puyang with shapes of tiger and dragon have dated it to 3000 BC. Nothing was placed at the south side. Something was at the north, but one might argue about that. Finally, I found this article in Chinese Studies in Archaeology (1979), translated by S. Cahill of UC, Berkeley, called "Analysis of the Western Han Murals in the Luouyang Tomb of Bo Qianqiu" by Sun Zuoyun. Although Western Han is earlier than Eastern, the pictures in the tomb were well preserved. There were tiger, dragon, vermilion bird, and other animals, but no tortoise. Instead, there was a sun with a bird inside, and the moon with a frog. Several hundred miles north of the Yellow River, there is the Amur River. The natives there had robes decorated with snakes, lizards, and frogs, and other animals, but no turtle. Later reasons for having the turtle or tortoise is a separate

  9. Associations of MMP1, MMP2 and MMP3 Genes Polymorphism with Coal Workers’ Pneumoconiosis in Chinese Han Population

    PubMed Central

    Ji, Xiaoming; Wang, Lijuan; Wu, Baiqun; Han, Ruhui; Han, Lei; Wang, Ting; Yang, Jingjin; Ni, Chunhui

    2015-01-01

    Coal workers’ pneumoconiosis (CWP) has been associated with abnormalities in the extracellular matrix remodeling, as well as aberrant matrix metalloproteinases (MMPs) in lung tissues. We investigated the association of three functional polymorphisms in MMP gene promoters (MMP1 rs1799750, MMP2 rs2285053 and MMP3 rs522616) with the risk of CWP. A total of 693 CWP cases and 690 controls were included in a case-control study. Genotype analysis was performed by the TaqMan method. Statistically significant differences were found in distributions of MMP3 rs522616 under a recessive model (p = 0.047) between CWP cases and controls. In the stratification analysis, individuals with MMP3 rs522616 GG genotype decreased the risk of CWP (adjusted OR = 0.72, 95% CI = 0.52–0.99) compared to those with AA/AG genotype obviously, particularly among subgroups of no smokers (adjusted OR = 0.64, 95% CI = 0.41–1.00). Furthermore, serum MMP3 protein levels measured with enzyme-linked immune-sorbent assay in the control group was significantly lower than that in the CWP groups (p = 0.02). Extremely lower MMP3 among subjects with the rs522616 GG or AG genotype compared with the AA genotype carriers (p < 0.05, p < 0.01 respectively) in the normal serum. These findings indicate that the MMP3 rs522616 polymorphism may contribute to the etiology of CWP in the Chinese population and MMP3 might be a potential diagnostic biomarker for CWP, additional independent studies are warranted to validate our findings in different populations as well as in a larger series. PMID:26528997

  10. Association between single nucleotide polymorphisms in ADRB2, GNB3 and GSTP1 genes and high-altitude pulmonary edema (HAPE) in the Chinese Han population.

    PubMed

    He, Yongjun; Liu, Lijun; Xu, Pengcheng; He, Na; Yuan, Dongya; Kang, Longli; Jin, Tianbo

    2017-02-14

    High altitude pulmonary edema (HAPE) occurs mainly under conditions such as high altitude, rapid ascent, or hypoxia. Previous studies suggest that ADRB2, GNB3, TH, and GSTP1 polymorphisms are associated with various lung diseases. We evaluated whether those polymorphisms are associated with the risk of HAPE in a Chinese Han population. ADRB2, GNB3, TH and GSTP1 polymorphisms were genotyped using a Sequenom MassARRAY. Logistic regression, adjusted for age and gender, was used to evaluate the association between the genotypes and the risk of HAPE by computing odds ratios (ORs) and 95% confidence intervals (95% CIs). The results revealed that GNB3 rs4963516 allele ''G'' (G vs T: OR = 0.70, 95% CI = 0.55-0.90, p = 0.006) was associated with HAPE risk. The ADRB2 rs1042718 alleles had a 1.29-fold (95%CI = 1.00-1.66; p = 0.045) increased risk of HAPE, and the GSTP1 rs749174 alleles had a 0.71-fold (95%CI = 0.52-0.99; p = 0.042) decreased risk of HAPE. Co-dominant and dominant models of GNB3 rs4963516 decreased the risk of HAPE (p = 0.023 and p = 0.008, respectively). Our results indicate GNB3 and GSTP1 polymorphisms may protect against HAPE progression, while ADRB2 polymorphisms are associated with an increased risk of HAPE.

  11. A splicing-regulatory polymorphism in DRD2 disrupts ZRANB2 binding, impairs cognitive functioning and increases risk for schizophrenia in six Han Chinese samples.

    PubMed

    Cohen, O S; Weickert, T W; Hess, J L; Paish, L M; McCoy, S Y; Rothmond, D A; Galletly, C; Liu, D; Weinberg, D D; Huang, X-F; Xu, Q; Shen, Y; Zhang, D; Yue, W; Yan, J; Wang, L; Lu, T; He, L; Shi, Y; Xu, M; Che, R; Tang, W; Chen, C-H; Chang, W-H; Hwu, H-G; Liu, C-M; Liu, Y-L; Wen, C-C; Fann, C S-J; Chang, C-C; Kanazawa, T; Middleton, F A; Duncan, T M; Faraone, S V; Weickert, C S; Tsuang, M T; Glatt, S J

    2016-07-01

    The rs1076560 polymorphism of DRD2 (encoding dopamine receptor D2) is associated with alternative splicing and cognitive functioning; however, a mechanistic relationship to schizophrenia has not been shown. Here, we demonstrate that rs1076560(T) imparts a small but reliable risk for schizophrenia in a sample of 616 affected families and five independent replication samples totaling 4017 affected and 4704 unaffected individuals (odds ratio=1.1; P=0.004). rs1076560(T) was associated with impaired verbal fluency and comprehension in schizophrenia but improved performance among healthy comparison subjects. rs1076560(T) also associated with lower D2 short isoform expression in postmortem brain. rs1076560(T) disrupted a binding site for the splicing factor ZRANB2, diminished binding affinity between DRD2 pre-mRNA and ZRANB2 and abolished the ability of ZRANB2 to modulate short:long isoform-expression ratios of DRD2 minigenes in cell culture. Collectively, this work implicates rs1076560(T) as one possible risk factor for schizophrenia in the Han Chinese population, and suggests molecular mechanisms by which it may exert such influence.

  12. A weighted polygenic risk score using 14 known susceptibility variants to estimate risk and age onset of psoriasis in Han Chinese.

    PubMed

    Yin, Xianyong; Cheng, Hui; Lin, Yan; Wineinger, Nathan E; Zhou, Fusheng; Sheng, Yujun; Yang, Chao; Li, Pan; Li, Feng; Shen, Changbing; Yang, Sen; Schork, Nicholas J; Zhang, Xuejun

    2015-01-01

    With numbers of common variants identified mainly through genome-wide association studies (GWASs), there is great interest in incorporating the findings into screening individuals at high risk of psoriasis. The purpose of this study is to establish genetic prediction models and evaluate its discriminatory ability in psoriasis in Han Chinese population. We built the genetic prediction models through weighted polygenic risk score (PRS) using 14 susceptibility variants in 8,819 samples. We found the risk of psoriasis among individuals in the top quartile of PRS was significantly larger than those in the lowest quartile of PRS (OR = 28.20, P < 2.0×10(-16)). We also observed statistically significant associations between the PRS, family history and early age onset of psoriasis. We also built a predictive model with all 14 known susceptibility variants and alcohol consumption, which achieved an area under the curve statistic of ~ 0.88. Our study suggests that 14 psoriasis known susceptibility loci have the discriminating potential, as is also associated with family history and age of onset. This is the genetic predictive model in psoriasis with the largest accuracy to date.

  13. A multicenter case-control study on screening of single nucleotide polymorphisms in estrogen-metabolizing enzymes and susceptibility to uterine leiomyoma in han chinese.

    PubMed

    Shen, Yang; Ren, Mu-Lan; Xu, Jie; Xu, Qian; Ding, Yi-Qian; Wu, Zhi-Cong; Zhang, Hai-Bao; Huang, Xian-Xia; Cai, Yun-Lang

    2014-01-01

    Uterine leiomyoma (UL) is an estrogen-responsive benign tumor in the female reproductive system and the main risk of hysterectomy for women. However, gene polymorphism of estrogen-metabolizing enzymes may lead to the different susceptibility to UL. We detected 10 single mucleotide polymorphisms in three key estrogen metabolite enzymes (COMT, CYP1A1, CYP1B1) in a Chinese Han population consisting of 800 patients and 800 healthy women from five different medical centers. The genetic polymorphism of rs3087869 (IVS1+2329C>T) (OR 3.200, 95% CI 1.614-6.345) and rs4680 (Val158Met) (OR 5.675, 95% CI 2.696-11.942) loci on COMT, rs1048943 (Ile462Val) (OR 4.629, 95% CI 2.216-9.672) and rs4646422 (Gly45Asp) (OR 3.240, 95% CI 1.624-6.461) loci on CYP1A1 and rs1065827 (Ala119Ser) (OR 5.635, 95% CI 2.990-10.619) locus on CYP1B1 were the risk factors to UL development and rs1056836 (Leu432Val) (OR 0.188, 95% CI 0.061-0.575) locus on CYB1B1 may be the protective factor to UL. The results provide a theoretical basis for genetic screening and early intervention to UL-susceptible populations.

  14. ORMDL3 contributes to the risk of atherosclerosis in Chinese Han population and mediates oxidized low-density lipoprotein-induced autophagy in endothelial cells.

    PubMed

    Ma, Xiaochun; Qiu, Rongfang; Dang, Jie; Li, Jiangxia; Hu, Qin; Shan, Shan; Xin, Qian; Pan, Wenying; Bian, Xianli; Yuan, Qianqian; Long, Feng; Liu, Na; Li, Yan; Gao, Fei; Zou, Chengwei; Gong, Yaoqin; Liu, Qiji

    2015-11-25

    ORMDL sphingolipid biosynthesis regulator 3 (ORMDL3) is a universally confirmed susceptibility gene for asthma and has recently emerged as a crucial modulator in lipid metabolism, inflammation and endoplasmic reticulum (ER) stress-the mechanisms also closely involved in atherosclerosis (AS). Here we first presented the evidence of two single nucleotide polymorphisms regulating ORMDL3 expression (rs7216389 and rs9303277) significantly associated with AS risk and the evidence of increased ORMDL3 expression in AS cases compared to controls, in Chinese Han population. Following the detection of its statistical correlation with AS, we further explored the functional relevance of ORMDL3 and hypothesized a potential role mediating autophagy as autophagy is activated upon modified lipid, inflammation and ER stress. Our results demonstrated that in endothelial cells oxidized low-density lipoprotein (ox-LDL) up-regulated ORMDL3 expression and knockdown of ORMDL3 alleviated not only ox-LDL-induced but also basal autophagy. BECN1 is essential for autophagy initiation and silencing of ORMDL3 suppressed ox-LDL-induced as well as basal BECN1 expression. In addition, deletion of ORMDL3 resulted in greater sensitivity to ox-LDL-induced cell death. Taken together, ORMDL3 might represent a causal gene mediating autophagy in endothelial cells in the pathogenesis of AS.

  15. Association between the dopamine D4 receptor gene exon III variable number of tandem repeats and political attitudes in female Han Chinese

    PubMed Central

    Ebstein, Richard P.; Monakhov, Mikhail V.; Lu, Yunfeng; Jiang, Yushi; Lai, Poh San; Chew, Soo Hong

    2015-01-01

    Twin and family studies suggest that political attitudes are partially determined by an individual's genotype. The dopamine D4 receptor gene (DRD4) exon III repeat region that has been extensively studied in connection with human behaviour, is a plausible candidate to contribute to individual differences in political attitudes. A first United States study provisionally identified this gene with political attitude along a liberal–conservative axis albeit contingent upon number of friends. In a large sample of 1771 Han Chinese university students in Singapore, we observed a significant main effect of association between the DRD4 exon III variable number of tandem repeats and political attitude. Subjects with two copies of the 4-repeat allele (4R/4R) were significantly more conservative. Our results provided evidence for a role of the DRD4 gene variants in contributing to individual differences in political attitude particularly in females and more generally suggested that associations between individual genes, and neurochemical pathways, contributing to traits relevant to the social sciences can be provisionally identified. PMID:26246555

  16. Physiological responses and evaluation of effects of BMI, smoking and drinking in high altitude acclimatization: a cohort study in Chinese Han young males.

    PubMed

    Peng, Qian-Qian; Basang, Zhuoma; Cui, Chao-Ying; Li, Lei; Qian, Ji; Gesang, Quzhen; Yang, La; La, Zong; De, Yang; Dawa, Puchi; Qu, Ni; Suo, Qu; Dan, Zhen; Xiao, Duoji; Wang, Xiao-Feng; Jin, Li

    2013-01-01

    High altitude acclimatization is a series of physiological responses taking places when subjects go to altitude. Many factors could influence these processes, such as altitude, ascending speed and individual characteristics. In this study, based on a repeated measurement design of three sequential measurements at baseline, acute phase and chronic phase, we evaluated the effect of BMI, smoking and drinking on a number of physiological responses in high altitude acclimatization by using mixed model and partial least square path model on a sample of 755 Han Chinese young males. We found that subjects with higher BMI responses were reluctant to hypoxia. The effect of smoking was not significant at acute phase. But at chronic phase, red blood cell volume increased less while respiratory function increased more for smoking subjects compared with nonsmokers. For drinking subjects, red blood cell volume increased less than nondrinkers at both acute and chronic phases, while blood pressures increased more than nondrinkers at acute phase and respiratory function, red blood cell volume and oxygen saturation increased more than nondrinkers at chronic phase. The heavy and long-term effect of smoking, drinking and other factors in high altitude acclimatization needed to be further studied.

  17. Association of human leukocyte antigen-DRB1 alleles with chronic hepatitis B virus infection in the Han Chinese of Northeast China.

    PubMed

    Han, Yu; Jiang, Zhen-Yu; Jiao, Li-Xin; Yao, Cheng; Lin, Qian-Fei; Ma, Ning; Ju, Rui-Qing; Yang, Fan; Yu, Jiang-Hong; Chen, Lin

    2012-05-01

    Human leukocyte antigen (HLA) class II molecule is an integral component of the immune response on which the majority of host genetic studies have concentrated. Many different HLA-II alleles have been demonstrated to play roles in HBV infection. PCR-SSOP methods were applied to determine the HLA-DRB1 genotypes of 769 unrelated healthy individuals from Han Chinese of Northeast China. The frequencies of HLA-DRB1*09 in hepatitis B virus (HBV)-infected subjects were higher compared to those in the control group. Frequencies of HLA-DRB1*04 and *13 in the HBV-infected group were significantly lower compared to those in the healthy control group. Frequencies of HLA-DRB1*12 in the cirrhosis and liver cancer groups were significantly higher than those in the chronic hepatitis B (CHB) patients. The frequency of LA-DRB1*03 in the CHB patient group was significantly higher compared to that in the asymptomatic hepatitis B carrier patients. The above results suggest that the host HLA-II gene is an important factor in the determination of the outcome of HBV infection.

  18. Genetic Variants of Retinoic Acid Receptor-Related Orphan Receptor Alpha Determine Susceptibility to Type 2 Diabetes Mellitus in Han Chinese

    PubMed Central

    Zhang, Yuwei; Liu, Yulan; Liu, Yin; Zhang, Yanjie; Su, Zhiguang

    2016-01-01

    Retinoic acid receptor-related orphan receptor alpha (RORA) plays a key role in the regulation of lipid and glucose metabolism and insulin expression that are implicated in the development of type 2 diabetes mellitus (T2DM). However, the effects of genetic variants in the RORA gene on the susceptibility to T2DM remain unknown. Nine tagging single-nucleotide polymorphisms (SNPs) were screened by using the SNaPshot method in 427 patients with T2DM and 408 normal controls. Association between genotypes and haplotypes derived from these SNPs with T2DM was analyzed using different genetic models. Allele and genotype frequencies at rs10851685 were significantly different between T2DM patients and control subjects (allele: p = 0.009, Odds ratios (OR) = 1.36 [95% Confidence intervals (CI) = 1.08–1.72]; genotype: p = 0.029). The minor allele T, at rs10851685, was potentially associated with an increased risk of T2DM in the dominant model, displaying OR of 1.38 (95% CI: 1.04–1.82, p = 0.025) in subjects with genotypes TA+TT vs. AA. In haplotype analysis, we observed that haplotypes GGTGTAACT, GGTGTAACC, and GATATAACT were significantly associated with increased risk of T2DM, while haplotypes GATGAAGTT, AGTGAAGTT, and AATGAAATT were protective against T2DM. These data suggest that the genetic variation in RORA might determine a Chinese Han individual’s susceptibility to T2DM. PMID:27556492

  19. Risk of eighteen genome-wide association study-identified genetic variants for colorectal cancer and colorectal adenoma in Han Chinese

    PubMed Central

    Huang, Yanqin; Zhou, Jiaojiao; Zheng, Shu

    2016-01-01

    Background Recent genome-wide association studies (GWAS) identified eighteen single-nucleotide polymorphisms (SNPs) to be significantly associated with the risk of colorectal cancer (CRC). However, overall results of the following replications are inconsistent and little is known about whether these associations also exit in colorectal adenomas (CRA). Methods The SNP genotyping was performed using a Sequenom MassARRAY to investigate the association of these eighteen SNPs with colorectal neoplasm in a case-control study consisted of 1049 colorectal cancers, 283 adenomas, and 1030 controls. Results Two of these SNPs, rs10505477 and rs719725, showed evidence of an association in both CRC and CRA in our study population. Besides, seven SNPs (rs10808555, rs7014346, rs7837328, rs704017, rs11196172, rs4779584, and rs7229639) were significantly associated with CRC, and another one SNP rs11903757 was over-represented in CRA compared with controls. The strongest association was provided by rs11196172 (OR = 2.02, 95% CI = 1.66 - 2.46, P < 0.0001) and rs11903757 (OR = 1.96, 95% CI = 1.28 - 3.00, P = 0.0026). Conclusion These results suggest that some previously reported SNP associations also have impact on CRC and CRA predispositions in the Han Chinese population. A part of genetic risk to CRC is possibly mediated by susceptibility to adenomas. PMID:27769063

  20. Copy number variation of the Lipoprotein(a) (LPA) gene is associated with coronary artery disease in a southern Han Chinese population

    PubMed Central

    Wu, Zhijun; Sheng, Haihui; Chen, Yanjia; Tang, Jing; Liu, Yan; Chen, Qiujing; Lu, Lin; Jin, Wei

    2014-01-01

    Copy number variations (CNVs), genomic duplication or deletion events occurring at larger than 1 kb scale, contribute to the complex diseases substantially. Lipoprotein(a) [Lp(a)] is a major inherited risk factor for atherosclerosis and coronary artery disease (CAD). We investigated the association between a CNV of the Lp(a) (LPA) gene and CAD. The case-control study included 271 CAD patients and 207 controls diagnosed by coronary angiography. A taqman real-time fluorescence PCR based technique was developed according to the 2 × 2-ΔΔCt±SD calculation method. We detected LPA CNVs with a range of 1, 2 and 3. The 1 copy number carriers had a significantly reduced risk of CAD compared with those with 2 copy number after adjusting for the confounding factors (P < 0.001, OR = 0.38, 95% CI 0.23-0.64). Further stratified analyses suggested a significant protective effect of the 1 copy number in the elderly population (P = 0.008), females (P = 0.007) as well as in populations with non-hyperlipidemia (P = 0.003), hypertension (P = 0.001), non-smoking (P < 0.001) and high Lp(a) (≥ 0.3 g/L) levels (P = 0.001). The 1 copy number of the LPA gene may be an independent protective factor of CAD in a southern Han Chinese population, particularly in females and the elderly. PMID:25419416

  1. Selection of 29 highly informative InDel markers for human identification and paternity analysis in Chinese Han population by the SNPlex genotyping system.

    PubMed

    Li, Chengtao; Zhang, Suhua; Li, Li; Chen, Jingzhong; Liu, Yan; Zhao, Shumin

    2012-03-01

    The interest of forensic researchers in single nucleotide polymorphism (SNP) has been attracted because of its potential advantages, such as low mutation rates, amenable to high-throughput automated platform and the improved application in the analysis of degraded samples. In this paper, 29 highly informative insertion/deletion (InDel, a special kind of SNP) markers were selected from the dbSNP ( http://www.ncbi.nlm.nih.gov/SNP/ ) according to the given criteria. 109 unrelated Chinese Han subjects were genotyped for the 29 InDels with SNPlex genotyping system. The allele frequency data revealed that the combined power of discrimination for the 29 InDel markers was 0.999999999990867 and the combined probability of paternity exclusion (PE) was 0.9930. Sensitivity studies were performed to evaluate the flexibility of the SNPlex genotyping system on the set of 29 InDels. Highly reproducible results could be obtained with 40-100 ng genomic DNA and the proportion of total allele drop-in was significantly increased when the amount of DNA added to PCR was lower than 35 ng. These results suggested that the set of 29 InDels was useful in paternity analysis or human identification in the future.

  2. Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population.

    PubMed

    Zhao, Gui-Xian; Liu, Ying; Li, Zhen-Xin; Lv, Chuan-Zhen; Traboulsee, Anthony; Sadovnick, A Dessa; Wu, Zhi-Ying

    2013-10-01

    Multiple sclerosis (MS) and neuromyelitis optica (NMO) are common autoimmune demyelinating disorders of the central nervous system. The exact etiology of each remains unclear. CYP7A1 was reported to be associated with NMO in Korean patients, but this is yet to be confirmed in other populations. In this study, we used Sanger sequencing to detect SNPs in the promoter region of CYP7A1 in a population consisting of unrelated patients and controls from the Han Chinese population (129 MS; 89 NMO; 325 controls). Two known SNPs, -204A>C (rs3808607) and -469T>C (rs3824260), and a novel SNP (-208G>C) were identified in the 5'-UTR of CYP7A1. The -204A>C was in complete linkage with -469T>C and both were associated with NMO but not with MS. Results suggest that the CYP7A1 allele was associated with NMO. NMO and MS have different genetic risk factors. This further supports the emerging evidence that MS and NMO are distinct disorders.

  3. The Functional Haplotypes of CHRM3 Modulate mRNA Expression and Associate with Bladder Cancer among a Chinese Han Population in Kaohsiung City

    PubMed Central

    Wang, Chiang-Ting; Chen, Tsung-Ming; Mei, Chien-Tai; Chang, Chun-Feng; Liu, Li-Lian; Chiu, Kuo-Hsun; Wu, Tsung-Meng; Lan, Yu-Ching; Liu, Wen-Sheng

    2016-01-01

    Bladder cancer is one of the major cancer types and both environmental factors and genetic background play important roles in its pathology. Kaohsiung is a high industrialized city in Taiwan, and here we focused on this region to evaluate the genetic effects on bladder cancer. Muscarinic acetylcholine receptor M3 (CHRM3) was reported as a key receptor in different cancer types. CHRM3 is located at 1q42-43 which was reported to associate with bladder cancer. Our study attempted to delineate whether genetic variants of CHRM3 contribute to bladder cancer in Chinese Han population in south Taiwan. Five selected SNPs (rs2165870, rs10802789, rs685550, rs7520974, and rs3738435) were genotyped for 30 bladder cancer patients and 60 control individuals and genetic association studies were performed. Five haplotypes (GTTAT, ATTGT, GCTAC, ACTAC, and ACCAC) were found significantly associated with low CHRM3 mRNA level and contributed to increased susceptibility of bladder cancer in Kaohsiung city after rigid 10000 consecutive permutation tests. To our knowledge, this is the first genetic association study that reveals the genetic contribution of CHRM3 gene in bladder cancer etiology. PMID:28053981

  4. Associations of Toll-like receptor 7 and 8 Polymorphisms with Asthma and Asthma-related Phenotypes in a Chinese Han Population.

    PubMed

    Zhang, Qian; Qian, Fen-Hong; Yin, Xiao-Wei; Cao, Qi; Bai, Jian-Ling; Du, Qiang; Shi, Yi

    2015-12-01

    Toll-like receptor (TLR) 7 and 8 mediate anti-virus immunity and are of particular relevance to asthma. However, very little information about genetic association on TLR7/8 and asthma are available. This study aimed to evaluate the effects of polymorphisms in TLR7 and 8 on asthma risk and asthma-related phenotypes in a Chinese Han population. We enrolled 462 unrelated adult asthmatic patients and 398 healthy volunteers. The genotypes of tagging single nucleotide polymorphisms (SNPs) in TLR7 and 8 genes were determined using multiplex SNaPshot SNP genotyping assay. We used case-control and case-only studies to assess any links with asthma and asthma-related phenotypes. There was no association between the variants in TLR7 and 8 and asthma susceptibility. However, our results revealed that the genetic variants in TLR7 and 8 were associated with asthma-related phenotypes, including eosinophil counts, serum immunoglobulin E levels, lung function, and asthma severity as well. Our study suggests that TLR7 and 8 polymorphisms may play a considerable role in the pathogenesis of asthma. It will help in better understanding the pathogenesis of asthma and development of more effective strategies for asthma prevention, prediction, and therapy.

  5. Toll-like receptor 4 polymorphism is associated with increased susceptibility to chronic obstructive pulmonary disease in Han Chinese patients with chronic periodontitis.

    PubMed

    Yu, Hui; Lin, Mei; Wang, Xuejin; Wang, Songling; Wang, Zuomin

    2016-01-01

    The aim of the present study was to evaluate the association of single nucleotide polymorphisms (SNPs) in toll-like receptor 4 (TLR4) with chronic obstructive pulmonary disease (COPD) in Han Chinese patients with chronic periodontitis (CP). Six candidate SNPs of TLR4-rs10759930, rs10983755, rs11536879, rs1927907, rs11536889 and rs7873784-and 18 haplotype-tagging SNPs (tagSNPs) were genotyped in 339 patients with chronic periodontitis only (CP group), and 373 CP patients with COPD (CP with COPD group). The genotype distribution and allele frequencies of TLR4 rs1927907 among the CP (AA: 26, 8.5%, AG: 109, 35.5%, GG: 172, 56.0%) and CP with COPD (AA: 41, 12.0%, AG: 143, 41.7%, GG: 159, 46.4%) groups were significantly different (P = 0.039). After adjusting for age, sex, smoking status, and oral hygiene habits, CP patients carrying the AG polymorphism in TLR4 rs1927907 were found to be more susceptible to concomitant COPD than those carrying the GG genotype (P = 0.005, OR = 1.94, 95% CI for OR: 1.22-3.03). In conclusion, TLR4 gene polymorphism plays a role in the common pathophysiology of CP and COPD, indicating that CP patients with TLR4 gene rs1927907 polymorphism may be more susceptible to COPD.(J Oral Sci 58, 555-560, 2016).

  6. Functional variant in the promoter region of IL-27 alters gene transcription and confers a risk for ulcerative colitis in northern Chinese Han.

    PubMed

    Yu, Wei; Zhang, Kun; Wang, Zhongyi; Zhang, Jiayu; Chen, Tong; Jin, Lifang

    2017-03-01

    Ulcerative colitis (UC) is a chronic inflammatory disorder of unknown etiology and a polygenic disease. IL-27 encodes p28, a subunit of IL-12 family cytokines, and has been implicated in the pathogenesis of UC. The aims of the present study were to evaluate the genetic association of a variant of the IL-27 gene with UC and to further characterize the functional variant in the IL-27 gene that influences the risk for UC. Our data demonstrated that the genetic variant rs153109 in the 5' upstream region of IL-27 is significantly associated with UC in Chinese Han individuals. Analysis of IL-27 transcripts demonstrated that individuals carrying the risk allele of rs153109 display reduced transcription of IL-27 in PBMCs. Luciferase activity assays demonstrated that the risk allele rs153109 results in decreased promoter activity compared to a non-risk allele in a tissue specific manner. Mechanistic characterization of histone modifications in the promoter region revealed that the risk haplotype tagged by the risk allele of rs153109 reduces the levels of H3K3me3 and H3K27ac.

  7. Association between the dopamine D4 receptor gene exon III variable number of tandem repeats and political attitudes in female Han Chinese.

    PubMed

    Ebstein, Richard P; Monakhov, Mikhail V; Lu, Yunfeng; Jiang, Yushi; Lai, Poh San; Chew, Soo Hong

    2015-08-22

    Twin and family studies suggest that political attitudes are partially determined by an individual's genotype. The dopamine D4 receptor gene (DRD4) exon III repeat region that has been extensively studied in connection with human behaviour, is a plausible candidate to contribute to individual differences in political attitudes. A first United States study provisionally identified this gene with political attitude along a liberal-conservative axis albeit contingent upon number of friends. In a large sample of 1771 Han Chinese university students in Singapore, we observed a significant main effect of association between the DRD4 exon III variable number of tandem repeats and political attitude. Subjects with two copies of the 4-repeat allele (4R/4R) were significantly more conservative. Our results provided evidence for a role of the DRD4 gene variants in contributing to individual differences in political attitude particularly in females and more generally suggested that associations between individual genes, and neurochemical pathways, contributing to traits relevant to the social sciences can be provisionally identified.

  8. Association of CASP9, CASP10 gene polymorphisms and tea drinking with colorectal cancer risk in the Han Chinese population*

    PubMed Central

    Liu, He; Jiang, Xia; Zhang, Ming-wu; Pan, Yi-feng; Yu, Yun-xian; Zhang, Shan-chun; Ma, Xin-yuan; Li, Qi-long; Chen, Kun

    2013-01-01

    The initiators caspase-9 (CASP9) and caspase-10 (CASP10) are two key controllers of apoptosis and play important roles in carcinogenesis. This study aims to explore the association between CASPs gene polymorphisms and colorectal cancer (CRC) susceptibility in a population-based study. A two-stage designed population-based case-control study was carried out, including a testing set with 300 cases and 296 controls and a validation set with 206 cases and 845 controls. A total of eight tag selected single nucleotide polymorphisms (SNPs) in CASP9 and CASP10 were chosen based on HapMap and the National Center of Biotechnology Information (NCBI) datasets and genotyped by restriction fragment length polymorphism (RFLP) assay. Multivariate logistic regression models were applied to evaluate the association of SNPs with CRC risk. In the first stage, from eight tag SNPs, three polymorphisms rs4646077 (odds ratio (OR)AA+AG: 0.654, 95% confidence interval (CI): 0.406–1.055; P=0.082), rs4233532 (ORCC: 1.667, 95% CI: 0.967–2.876; ORCT: 1.435, 95% CI: 0.998–2.063; P=0.077), and rs2881930 (ORCC: 0.263, 95% CI: 0.095–0.728, P=0.036) showed possible association with CRC risk. However, none of the three SNPs, rs4646077 (ORAA+AG: 1.233, 95% CI: 0.903–1.683), rs4233532 (ORCC: 0.892, 95% CI: 0.640–1.243; ORCT: 1.134, 95% CI: 0.897–1.433), and rs2881930 (ORCC: 1.096, 95% CI: 0.620–1.938; ORCT: 1.009, 95% CI: 0.801–1.271), remained significant with CRC risk in the validation set, even after stratification for different tumor locations (colon or rectum). In addition, never tea drinking was associated with a significantly increased risk of CRC in testing set together with validation set (OR: 1.755, 95% CI: 1.319–2.334). Our results found that polymorphisms of CASP9 and CASP10 genes may not contribute to CRC risk in Chinese population and thereby the large-scale case-control studies might be in consideration. In addition, tea drinking was a protective factor for CRC. PMID

  9. Reaching out to the West: An Assessment of Chinese Students' Views regarding Foreign-Delivered University Programs in China

    ERIC Educational Resources Information Center

    Willis, Mike

    2010-01-01

    This article identifies the views and expectations of Chinese students located in nine cities in China and Hong Kong in regard to the delivery of foreign degree programs within China. This delivery mode is becoming a common form of educational delivery and augments other modes of international activity such as study abroad and distance education.…

  10. Genetic variants at 6p21.1 and 7p15.3 Identified by GWASs of multiple cancers and ovarian cancer risk: a case-control study in Han Chinese women.

    PubMed

    Li, Da-Ke; Han, Jing; Liu, Ji-Bin; Jin, Guang-Fu; Qu, Jun-Wei; Zhu, Meng; Wang, Yan-Ru; Jiang, Jie; Ma, Hong-Xia

    2014-01-01

    A recent study summarized several published genome-wide association studies (GWASs) of cancer and reported two pleiotropic loci at 6p21.1 and 7p15.3 contributing to multiple cancers including lung cancer, noncardia gastric cancer (NCGC), and esophageal squamous-cell carcinoma (ESCC) in Han Chinese. However, it is not known whether such genetic variants have similar effects on the risk of gynecologic cancers, such as ovarian cancer. Hence, we explored associations between genetic variants in 6p21.1 and 7p15.3 and ovarian cancer risk in Han Chinese women. We performed an independent case-control study by genotyping the two loci (rs2494938 A > G at 6p21.1 and rs2285947 A > G at 7p15.3) in a total of 377 ovarian cancer cases and 1,034 cancer-free controls using TaqMan allelic discrimination assay. We found that rs2285947 at 7p15.3 was significantly associated with risk of ovarian cancer with per allele odds ratio (OR) of 1.33 [95% confidence interval (CI): 1.08-1.64, P=0.008]. However, no significant association was observed between rs2494938 and ovarian cancer risk. Our results showed that rs2285947 at 7p15.3 may also contribute to the development of ovarian cancer in Han Chinese women, further suggesting pleiotropy of 7p15.3 in multiple cancers.

  11. Stereoselective metabolism of donepezil and steady-state plasma concentrations of S-donepezil based on CYP2D6 polymorphisms in the therapeutic responses of Han Chinese patients with Alzheimer's disease.

    PubMed

    Lu, Jin; Wan, Lili; Zhong, Yuan; Yu, Qi; Han, Yonglong; Chen, Pengguo; Wang, Beiyun; Li, Wei; Miao, Ya; Guo, Cheng

    2015-11-01

    The therapeutic response rates of patients to donepezil vary from 20% to 60%, one of the reasons is their genetic differences in donepezil-metabolizing enzymes, which directly influence liver metabolism. However, the mechanism of donepezil metabolism and that of its enantiomers is unknown. This study evaluated CYP2D6 polymorphisms to elucidate the stereoselective metabolism of donepezil and to confirm the association between the steady-state plasma concentrations of the pharmaco-effective S-donepezil and the therapeutic responses of Han Chinese patients with Alzheimer's disease. The in vitro study of the stereoselective metabolism demonstrated that CYP2D6 is the predominant P450 enzyme that metabolizes donepezil and that different CYP2D6 alleles differentially affect donepezil enantiomers metabolism. A total of 77 Han Chinese patients with Alzheimer's disease were recruited to confirm these results, by measuring their steady-state plasma concentrations of S-donepezil. The related CYP2D6 genes were genotyped. Plasma concentrations of S-donepezil (based on CYP2D6 polymorphisms) were significantly associated with therapeutic responses. This finding suggests that plasma concentrations of S-donepezil influence therapeutic outcomes following treatment with donepezil in Han Chinese patients with Alzheimer's disease. Therefore, determining a patient's steady-state plasma concentration of S-donepezil in combination with their CYP2D6 genotype might be useful for clinically monitoring the therapeutic efficacy of donepezil.

  12. Variant rs2237892 of KCNQ1 Is Potentially Associated with Hypertension and Macrovascular Complications in Type 2 Diabetes Mellitus in A Chinese Han Population

    PubMed Central

    Zhang, Wanlin; Wang, Hailing; Guan, Xiaomin; Niu, Qing; Li, Wei

    2015-01-01

    KCNQ1 has been identified as a susceptibility gene of type 2 diabetes mellitus (T2DM) in Asian populations through genome-wide association studies. However, studies on the association between gene polymorphism of KCNQ1 and T2DM complications remain unclear. To further analyze the association between different alleles at the single nucleotide polymorphism (SNP) rs2237892 within KCNQ1 and TD2M and its complications, we conducted a case-control study in a Chinese Han population. The C allele of rs2237892 variant contributed to susceptibility to T2DM (odds ratio [OR], 1.45; 95% confidence interval [CI], 1.20–1.75). Genotypes CT (OR, 1.97; 95% CI, 1.24–3.15) and CC (OR, 2.49; 95% CI, 1.57–3.95) were associated with an increased risk of T2DM. Multivariate regression analysis was performed with adjustment of age, gender, and body mass index. We found that systolic blood pressure (P = 0.015), prevalence of hypertension (P = 0.037), and risk of macrovascular disease (OR, 2.10; CI, 1.00–4.45) were significantly higher in subjects with the CC genotype than in the combined population with genotype either CT or TT. Therefore, our data support that KCNQ1 is associated with an increased risk for T2DM and might contribute to the higher incidence of hypertension and macrovascular complications in patients with T2DM carrying the risk allele C though it needs further to be confirmed in a larger population. PMID:26678516

  13. The SLC6A3 gene possibly affects susceptibility to late-onset alcohol dependence but not specific personality traits in a Han Chinese population

    PubMed Central

    Huang, Chang-Chih; Kuo, Shin-Chang; Yeh, Yi-Wei; Chen, Chun-Yen; Yen, Che-Hung; Liang, Chih-Sung; Ho, Pei-Shen; Lu, Ru-Band; Huang, San-Yuan

    2017-01-01

    Dopaminergic dysfunction has an important role in the pathoetiology of alcohol dependence (AD). The purpose of this study was to determine whether the solute carrier family 6 member 3 (SLC6A3) gene (also known as the dopamine transporter DAT gene) was associated with AD, and whether variants in the SLC6A3 locus were associated with specific personality traits in patients with AD. Sixteen polymorphisms in SLC6A3 were analyzed using 637 patients with AD and 523 healthy controls. To reduce clinical heterogeneity, patients were classified into two subgroups: early-onset AD (EOAD) and late-onset AD (LOAD). The Tridimensional Personality Questionnaire was used to assess the personality traits novelty seeking (NS) and harm avoidance (HA) in the patients with AD. Using allele frequency and genotype distribution comparisons and logistic regression analysis, we found evidence of association between rs6350 and AD (P < 0.05). Following subgroup analysis, we confirmed evidence of an association in patients with LOAD (P = 0.003), but not in patients with EOAD. Heterozygous carriers of the A allele have a nearly 3 times greater risk to develop LOAD compared to individuals who do not have an A allele. Although we found that patients with AD had higher NS and HA scores compared to controls (P < 0.001), we did not find evidence of association between SLC6A3 polymorphisms and either NS or HA in patients with AD using linear regression analysis. The findings from our study indicate that the SLC6A3 gene may have a role in susceptibility to late-onset AD in the Han Chinese population. PMID:28182634

  14. Genetic polymorphisms in MMP 2, 3, 7, and 9 genes and the susceptibility and clinical outcome of cervical cancer in a Chinese Han population.

    PubMed

    Xie, Beibei; Zhang, Zhen; Wang, Hui; Chen, Zhaojie; Wang, Yongsheng; Liang, Huazheng; Yang, Gaoyuan; Yang, Xingsheng; Zhang, Haiyan

    2016-04-01

    Matrix metalloproteases (MMPs) are proteolytic enzymes that contribute to all stages of tumor progression, including the invasion and metastasis. However, there are no data about the role of MMP polymorphism in the development of cervical cancer. A hospital-based case-control study was conducted in 230 patients with cervical cancer and 230 healthy controls to investigate the possible association between the MMP2 rs243865, MMP3 rs3025058, MMP7 rs11568818, and MMP9 rs3918242 polymorphisms, respectively, and the risk of cervical cancer. Our results suggested that the MMP2 rs243865-1306 C/T was significantly associated with an increased risk of cervical cancer (CT vs. CC, OR = 1.46; 95 % CI 1.18-3.55; P = 0.032; TT vs. CC, OR = 1.72; 95 % CI 1.28-4.02; P = 0.031; CT + TT vs. CC, OR = 1.43; 95 % CI 1.21-3.44; P = 0.029). Similarly, the MMP7 rs11568818-181A/G genotypes can also elevate the risk of cervical cancer in all genetic models. However, the genotype and allele frequencies of MMP3 rs3025058 and MMP9 rs3918242 polymorphisms in cervical cancer patients were not significantly different from controls. Further analysis showed MMP2 rs243865 and MMP7 rs11568818 genotypes were associated with advanced tumor stages of cervical cancer patients. More interestingly, the MMP2 rs243865 and MMP7 rs11568818 genotype was statistically significantly associated with a poor survival in cervical cancer patients. Our results showed that the MMP2 rs243865 and MMP7 rs11568818 genotypes e were associated with increased susceptibility and development of cervical cancer in Chinese Han population.

  15. Variant rs2237892 of KCNQ1 Is Potentially Associated with Hypertension and Macrovascular Complications in Type 2 Diabetes Mellitus in A Chinese Han Population.

    PubMed

    Zhang, Wanlin; Wang, Hailing; Guan, Xiaomin; Niu, Qing; Li, Wei

    2015-12-01

    KCNQ1 has been identified as a susceptibility gene of type 2 diabetes mellitus (T2DM) in Asian populations through genome-wide association studies. However, studies on the association between gene polymorphism of KCNQ1 and T2DM complications remain unclear. To further analyze the association between different alleles at the single nucleotide polymorphism (SNP) rs2237892 within KCNQ1 and TD2M and its complications, we conducted a case-control study in a Chinese Han population. The C allele of rs2237892 variant contributed to susceptibility to T2DM (odds ratio [OR], 1.45; 95% confidence interval [CI], 1.20-1.75). Genotypes CT (OR, 1.97; 95% CI, 1.24-3.15) and CC (OR, 2.49; 95% CI, 1.57-3.95) were associated with an increased risk of T2DM. Multivariate regression analysis was performed with adjustment of age, gender, and body mass index. We found that systolic blood pressure (P=0.015), prevalence of hypertension (P=0.037), and risk of macrovascular disease (OR, 2.10; CI, 1.00-4.45) were significantly higher in subjects with the CC genotype than in the combined population with genotype either CT or TT. Therefore, our data support that KCNQ1 is associated with an increased risk for T2DM and might contribute to the higher incidence of hypertension and macrovascular complications in patients with T2DM carrying the risk allele C though it needs further to be confirmed in a larger population.

  16. HDAC9 Variant Rs2107595 Modifies Susceptibility to Coronary Artery Disease and the Severity of Coronary Atherosclerosis in a Chinese Han Population.

    PubMed

    Wang, Xue-Bin; Han, Ya-di; Sabina, Shrestha; Cui, Ning-Hua; Zhang, Shuai; Liu, Ze-Jin; Li, Cong; Zheng, Fang

    2016-01-01

    A previous genome-wide association study showed that a single nucleotide polymorphism (SNP) rs2107595 in histone deacetylase 9 (HDAC9) gene was associated with large artery stroke (LAS) in Caucasians. Based on the similar atherosclerotic pathogenesis between LAS and coronary artery disease (CAD), we aimed to evaluate the associations of SNP rs2107595 with CAD risk and the severity of coronary atherosclerosis in a Chinese Han population, and explore the potential gene-environment interactions among SNP rs2107595 and conventional CAD risk factors. In a two-stage case-control study with a total of 2317 CAD patients and 2404 controls, the AG + AA genotypes of SNP rs2107595 were significantly associated with increased CAD risk (Adjusted odds ratio (OR) = 1.23, Padj = 0.001) and higher modified Gensini scores (Adjusted OR = 1.38, Padj < 0.001). These associations remained significant in subtype analyses for unstable angina pectoris (UAP), non-ST-segment elevation myocardial infarction (NSTEMI) and ST-segment elevation myocardial infarction (STEMI). Subgroup and multifactor dimensionality reduction analyses (MDR) further found the gene-environment interactions among SNP rs2107595, body mass index, type 2 diabetes and hyperlipidemia in CAD risk and the severity of coronary atherosclerosis. Moreover, patients with CAD had higher levels of HDAC9 mRNA expression and plasma HDAC9 than controls. Subsequent genotype-phenotype analyses observed the significant correlations of SNP rs2107595 with HDAC9 mRNA expression and plasma HDAC9 levels in controls and patients with NSTEMI and STEMI. Taken together, our data suggest that SNP rs2107595 may contribute to coronary atherosclerosis and CAD risk through a possible mechanism of regulating HDAC9 expression and gene-environment interactions.

  17. Polymorphisms in IRG1 gene associated with immune responses to hepatitis B vaccination in a Chinese Han population and function to restrain the HBV life cycle.

    PubMed

    Liu, Xing; Zhang, Li; Wu, Xiao-Pan; Zhu, Xi-Lin; Pan, Li-Ping; Li, Tao; Yan, Bing-Yu; Xu, Ai-Qiang; Li, Hui; Liu, Ying

    2016-12-22

    Vaccination against the hepatitis B virus (HBV) is extensively used as an effective method to prevent HBV infection. However, nearly 10% of healthy adults fail to produce a protective level of antibodies against the hepatitis B vaccine, and multiple genetic variants are known to affect the immune response to the hepatitis B vaccine. The aim of the present study was to investigate the association between polymorphisms in immunoresponsive gene 1 (IRG1) gene and the immune response to hepatitis B vaccination in a Chinese Han population. Four single nucleotide polymorphisms (SNPs) located in the IRG1 gene were genotyped in 1230 high-responders and 451 non-responders to hepatitis B vaccination. The SNPs rs17470171 and rs17385627 were associated with the immune response to hepatitis B vaccination (P = 0.014 and 0.029, respectively). In addition, the haplotypes G-A-A-A (rs614171-rs17470171-rs9530614-rs17385627, P = 0.0042, OR = 0.68) and A-A (rs17470171-rs17385627, P = 0.0065, OR = 0.72) exerted a protective role in the immune response to hepatitis B vaccination. Allele 'A' of rs17470171 and allele 'A' of rs17385627 show higher levels of expression for the IRG1 gene compared with allele 'C' of rs17470171 and allele 'T' of rs17385627 as demonstrated by luciferase reporter and overexpression assays. In addition, we observed that IRG1 inhibited the HBV life cycle and that IRG1 rs17385627 allele 'A' was more effective than rs17385627 allele 'T' at eliminating HBV in HepG2.2.15 cells. These findings suggest that polymorphisms in the IRG1 gene are associated with the immune response to hepatitis B vaccination. The antiviral effect of IRG1 was confirmed using HBV infection cell models.

  18. Association analysis of DACT1 genetic variants and gastric cancer risk in a Chinese Han population: a case–control study

    PubMed Central

    Huang, Chi; Wang, Younan; Fan, Hao; Ma, Xiang; Tang, Ran; Huan, Xiangkun; Zhu, Yi; Xu, Zekuan; Xu, Hao; Yang, Li

    2016-01-01

    Purpose Disheveled-binding antagonist of beta-catenin 1 (DACT1) is involved in tumorigenesis through influencing cell apoptosis and proliferation. We aimed to investigate the effect of three tag single-nucleotide polymorphisms (SNPs) in DACT1 (rs863091 C>T, rs17832998 C>T, and rs167481 C>T) on the occurrence of gastric cancer (GC), their association with specific clinical characteristics, and consideration of the functional relevance of GC-related SNPs. Subjects and methods In this hospital-based case–control study, the genotypes were acquired using the TaqMan-MGB method consisting of 602 cases and 602 controls. DACT1 messenger RNA level was evaluated in 76 paired tumoral and normal tissues using quantitative reverse transcription–polymerase chain reaction. Logistic regression was used to evaluate the associations among the DACT1 SNPs and GC. Results We found a significant association between the variant genotypes of rs863091 and decreased risk of GC (TT vs CC: P=0.009, adjusted odds ratio =0.34, 95% confidence interval =0.15–0.77; CT + TT vs CC: P=0.030, adjusted odds ratio =0.74, 95% confidence interval =0.57–0.97). In further stratified analyses, rs863091 variant genotypes were associated with a reduced risk of GC in younger individuals (<60 years) and males. No overall significant association with GC risk was observed in SNP rs17832998 or rs167481. Additionally, we assessed DACT1 messenger RNA levels in GC and found that DACT1 expressions of individuals carrying CT and TT genotypes were much higher than those with CC genotype. Conclusion Our findings suggest that the DACT1 rs863091 C>T polymorphism may be associated with a decreased risk of GC in the Chinese Han population and influence DACT1 expression. PMID:27729806

  19. Haplotypes of the MTHFR gene are associated with an increased risk of breast cancer in a Han Chinese population in Gansu province.

    PubMed

    Song, Ailing; Zhao, Lei; Li, Yumin; Wu, Li; Li, Yu; Liu, Xiaokang; Lan, Shen

    2016-07-01

    Elevated homocysteine levels are a risk factor for breast cancer, although the mechanism underlying this effect is unknown. Genome-wide association studies were used to systematically identify genetic variants which were significantly associated with the circulating homocysteine concentration. To examine the role of homocysteine-related variants in the occurrence of breast cancer, we investigated the association between these variants and breast cancer in a Han Chinese population. Five variants of genome-wide significant homocysteine-related genes were selected for the analysis in a case-control study, with a total of 487 patients with breast cancer and 605 controls. We found that none of the studied polymorphisms were related to the altered breast cancer risk. In the haplotypic analysis, the 5,10-methylenetetrahydrofolate reductase (MTHFR) haplotypes rs12085006A/rs1999594G/rs1801133C (OR = 3.44, 95% CI = 1.58-7.50, P = 0.0019) and rs12085006A/rs1999594G/rs1801133T (OR = 16.21, 95% CI = 2.19- 120.32, P = 0.0065) were significantly associated with an increased breast cancer risk when compared with the wild-type haplotype. Both of the risky MTHFR haplotypes were correlated with decreased MTHFR gene expression and elevated homocysteine concentrations, indicating a genetic component for hyperhomocysteinemia. The MTHFR haplotypes reconstructed with homocysteine-related variants were associated with the occurrence of breast cancer. This finding further emphasizes the importance of homocysteine metabolism genes in breast carcinogenesis and highlights the interplay of diet, genetics, and human cancers. © 2016 IUBMB Life, 68(7):526-534, 2016.

  20. Mitochondrial haplogroup D4 confers resistance and haplogroup B is a genetic risk factor for high-altitude pulmonary edema among Han Chinese.

    PubMed

    Luo, Y J; Gao, W X; Li, S Z; Huang, X W; Chen, Y; Liu, F Y; Huang, Q Y; Gao, Y Q

    2012-10-09

    High-altitude pulmonary edema (HAPE) is a life-threatening condition caused by acute exposure to high altitude. Accumulating evidence suggests that genetic factors play an important role in the etiology of HAPE. However, conclusions from association studies have been hindered by limited sample size due to the rareness of this disease. It is known that mitochondria are critical for hypoxic adaptation, and mitochondrial malfunction can be an important factor in HAPE development. Therefore, we tested the hypothesis that mitochondrial DNA haplotypes and polymorphisms affect HAPE susceptibility. We recruited 204 HAPE patients and 174 healthy controls in Tibet (3658 m above sea level), all Han Chinese, constituting the largest sample size of all HAPE vulnerability studies. Among mtDNA haplogroups, we found that haplogroup D4 is associated with resistance to HAPE, while haplogroup B is a genetic risk factor for this condition. Haplogroup D4 (tagged by 3010A) may enhance the stability of 16S rRNA, resulting in reduced oxidative stress and protection against HAPE. Within haplogroup B, subhaplogroup B4c (tagged by 15436A and 1119C) was associated with increased risk for HAPE, while subhaplogroup B4b may protect against HAPE. We indicate that there are differences in HAPE susceptibility among mtDNA haplogroups. We conclude that mitochondria are involved in adverse reactions to acute hypoxic exposure; our finding of differences in susceptibility as a function of mitochondrial DNA haplotype may shed light on the pathogenesis of other disorders associated with hypoxia, such as chronic obstructive pulmonary disease.

  1. PHACTR1 and SLC22A3 gene polymorphisms are associated with reduced coronary artery disease risk in the male Chinese Han population

    PubMed Central

    Zhao, Qingbin; Wei, Huiyi; Liu, Dandan; Shi, Baolan; Li, Lei; Yan, Mengdan; Zhang, Xiyang; Wang, Fengjiao; Ouyang, Yongri

    2017-01-01

    Previous studies showed that PHACTR1 and SLC22A3 are involved in coronary vascular development and are key determinants of cardiovascular disease risk. We conducted a case-control study to examine the effect of SLC22A3 and PHACTR1 single nucleotide polymorphisms (SNPs) on CAD risk among 376 male CAD patients and 388 male healthy controls from China. Eleven SLC22A3 and PHACTR1 SNPs were selected and genotyped using Sequenom Mass-ARRAY technology. Odds ratios (OR) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression adjusting for age. The rs9381439 minor allele “A” (OR = 0.72; 95% CI = 0.54–0.96; p = 0.024) in an allelic model was associated with reduced CAD risk, as were the rs2048327 “C/C” (OR = 0.60; 95% CI: 0.37–0.97; p = 0.036) and rs1810126 “T/T” (OR = 0.58; 95% CI: 0.36–0.93; p = 0.024) genotypes. Likewise, the rs9349379 “A/G” genotype in a dominant model (p = 0.041), the rs1810126 “T/C” genotype in additive (p = 0.041) and recessive (p = 0.012) models, and the rs2048327 “C/T” genotype in a recessive model were associated with decreased CAD risk (p = 0.016). These results suggest several PHACTR1 and SLC22A3 polymorphisms are associated with decreased CAD risk in the male Chinese Han population. PMID:27893421

  2. TLR1 polymorphism rs4833095 as a risk factor for IgA nephropathy in a Chinese Han population: A case-control study

    PubMed Central

    Wei, Jiali; Yao, Ganglian; Wang, Li; Wang, Meng; Liu, Xinghan; Dai, Cong; Jin, Tianbo; Dai, Zhijun; Fu, Rongguo

    2016-01-01

    Toll-like receptors (TLRs) are a family of transmembrane receptors, and play a vital role in recognizing invading pathogens and activating innate immunity. Previous studies indicated that TLR1 single nucleotide polymorphisms (SNPs) might be associated with the risk of IgA nephropathy (IgAN). This study aims to investigate the relationship between TLR1 SNPs (rs4833095 and rs5743557) and IgAN in a Chinese Han population. This case-control study included 351 patients with IgAN and 310 healthy controls. Two SNPs (rs4833095 and rs5743557) of TLR1 were genotyped by Sequenom MassARRAY. Odds ratios (OR) with 95% confidence intervals (CI) were used to assess the relationship with IgAN. We found that both allele and genotype frequencies of rs5743557 were not associated with IgAN risk. Rs4833095 increased IgAN risk compared with controls in the allele, dominant and log-additive models (P = 0.04, 0.04 and 0.03, respectively). Further haplotype analysis revealed that the Trs4833095Trs5743557 haplotype may be a risk factor for IgAN (OR = 1.28; 95% CI = 1.01–1.63; P = 0.046). Furthermore, rs4833095 was associated with Lee's grades (OR = 1.75; 95% CI = 1.03–2.96; P = 0.04). However, there was no significant association between the genotype distributions of rs5743557 and clinical parameters of IgAN such as gender, 24 hour urine protein, blood pressure, and Lee's grades. Taken together, these findings suggest that the TLR1 rs4833095 polymorphism may play a role in the development and progression of IgAN. PMID:27806314

  3. A Genetic Variant in Vitamin B12 Metabolic Genes That Reduces the Risk of Congenital Heart Disease in Han Chinese Populations

    PubMed Central

    Wang, Feng; Peng, Qian-Qian; Hou, Jia; Sun, Shu-Na; Gui, Yong-Hao; Duan, Wen-Yuan; Qiao, Bin; Wang, Hong-Yan

    2014-01-01

    Background Genome-wide association studies on components of the one-carbon metabolic pathway revealed that human vitamin B12 levels could be significantly influenced by variationsinthefucosyltransferase 2 (FUT2), cubilin (CUBN), and transcobalamin-I (TCN1) genes. An altered vitamin B12 level is an important factor that disturbs the homeostasis of the folate metabolism pathway, which in turn can potentially lead to the development of congenital heart disease (CHD). Therefore, we investigated the association between the variants of vitamin B12-related genes and CHD in Han Chinese populations. Methods and Results Six variants of the vitamin B12-related genes were selected for analysis in two independent case-control studies, with a total of 868 CHD patients and 931 controls. The variant rs11254363 of the CUBN gene was associated with a decreased risk of developing CHD in both the separate and combined case-control studies. Combined samples from the two cohorts had a significant decrease in CHD risk for the G allele (OR = 0.48, P = 1.7×10−5) and AG+GG genotypes (OR = 0.49, P = 4×10−5), compared with the wild-type A allele and AA genotype, respectively. Conclusions Considering the G allele of variant rs11254363 of the CUBN gene was associated with an increased level of circulating vitamin B12. This result suggested that the carriers of the G allele would benefit from the protection offered by the high vitamin B12 concentration during critical heart development stages. This finding shed light on the unexpected role of CUBN in CHD development and highlighted the interplay of diet, genetics, and human birth defects. PMID:24533076

  4. The breast cancer susceptibility-related polymorphisms at the TOX3/LOC643714 locus associated with lung cancer risk in a Han Chinese population

    PubMed Central

    Guo, Ruiling; Zhang, Ruijie; Ao, Zhi; Li, Qi; Wu, Guoming; Chen, Yan; Li, Jin; Wang, Changzheng; Yao, Wei; Xu, Jiancheng; Qian, Guisheng; Ji, Fuyun

    2016-01-01

    It has been well established that besides environmental factors, genetic factors are also associated with lung cancer risk. However, to date, the prior identified genetic variants and loci only explain a small fraction of the familial risk of lung cancer. Hence it is vital to investigate the remaining missing heritability to understand the development and process of lung cancer. In the study, to test our hypothesis that the previously identified breast cancer risk-associated genetic polymorphisms at the TOX3/LOC643714 locus might contribute to lung cancer risk, 16 SNPs at the TOX3/LOC643714 locus were evaluated in a Han Chinese population based on a case-control study. Pearson's chi-square test or Fisher's exact test revealed that rs9933638, rs12443621, and rs3104746 were significantly associated with lung cancer risk (P < 0.001, P < 0.001, and P = 0.005, respectively). Logistic regression analyses displayed that lung cancer risk of individuals with rs9933638(GG+GA) were 1.89 times higher than that of rs9933638AA carriers (OR = 1.893, 95% CI = 1.308-2.741, P = 0.001). Similar findings were manifested for rs12443621 (OR = 1.824, 95% CI = 1.272-2.616, P = 0.001, rs12443621(GG+GA) carriers vs. rs12443621AA carriers) and rs3104746 (OR = 1.665, 95% CI = 1.243-2.230, P = 0.001, rs3104746TT carriers vs. rs3104746(TA+AA) carriers). The study discovered for the first time that three SNPs (rs9933638, rs12443621, and rs3104746) at the TOX3/LOC643714 locus contributed to lung cancer risk, providing new evidences that lung cancer and breast cancer are linked at the molecular and genetic level to a certain extent. PMID:27486757

  5. Effect of RAGE polymorphisms on susceptibility to and severity of osteoarthritis in a Han Chinese population: a case-control study.

    PubMed

    Yang, H Y; Chuang, S Y; Fang, W H; Huang, G S; Wang, C C; Huang, Y Y; Chu, M Y; Lin, C; Su, W; Chen, C Y; Yang, Y T; Su, S L

    2015-09-25

    Recent studies have revealed that the inflammatory process plays a role in the pathogenesis of osteoarthritis (OA). The S100 family and receptor for advanced glycation end products (RAGE) participate in regulating inflammation, even in the production of matrix metalloproteinases (MMPs). MMP-1 degrades cartilage, which may result in OA development. Moreover, polymorphisms in RAGE, S100A8, and MMP-1 have a marked effect on ligand binding and transcription regulating. In this study, we investigated the potential genetic contribution of the RAGE, S100A8, and MMP-1 genes to OA. We performed a matched case-control association study and genotyped OA patients and healthy controls, who were analyzed by polymerase chain reaction-restriction fragment length polymorphism assays. A total of 207 patients were diagnosed with knee OA and underwent total knee replacement. The control group included 207 individuals who had standard X-rays of the knee joints to confirm K/L < 2 and were matched by age and gender. Single-nucleotide polymorphisms in RAGE (-429T/C, -374T/A, and 557G/A), S100A8 (rs3795391A/G), and MMP-1 (-1607 1G/2G, -755G/T, and -519A/G) were evaluated. RAGE -374T/A, S100A8 rs3795391A/G, MMP-1 -1607 1G/2G, -755G/T, and -519A/G showed no significant difference between OA patients and healthy controls. RAGE -429T/C and 557G/A showed a significant association between OA patients and healthy controls (P = 0.016 and 0.047, respectively). In haplotype analyses, no RAGE and MMP-1 haplotypes showed associations with OA. Our results suggest that the investigated polymorphism in the RAGE gene play a role in OA in the Han Chinese population.

  6. Association of rs10830963 and rs10830962 SNPs in the melatonin receptor (MTNR1B) gene among Han Chinese women with polycystic ovary syndrome.

    PubMed

    Li, Chao; Shi, Yuhua; You, Li; Wang, Laicheng; Chen, Zi-Jiang

    2011-03-01

    The aim of the present study was to determine whether or not the 'melatonin receptor (MTNR1B)' gene polymorphisms are associated with a predisposition for polycystic ovary syndrome (PCOS). The single-nucleotide polymorphisms (SNPs), rs10830963 and rs10830962, in the MTNR1B gene were detected in 526 patients with PCOS and 547 healthy Chinese Han women. The association between MTNR1B gene variants and plasma glucose and insulin levels during the oral glucose tolerance test (OGTT) and hormone levels was investigated. The frequencies of three genotypes and two allelotypes of the SNP, rs10830963, differed significantly between women with PCOS and healthy controls (P < 0.001 and P < 0.001, respectively). The SNP, rs10830963, was significantly associated with higher fasting plasma glucose concentrations (P < 0.001) and increased the area under the curve of plasma glucose levels during the OGTT (P < 0.001), as well as increased homeostasis model assessment of insulin resistance (HOMA-IR; P = 0.027). No significant differences were observed in the genotypes and allele distributions of rs10830962 polymorphisms between the PCOS and the control groups (P = 0.311 and P = 0.178, respectively). There was no significant difference in the clinical and the metabolic characteristics in women with PCOS with different genotypes in the SNP, rs10830962 (all P > 0.005). The present study suggest that the SNP, rs10830963, in the MTNR1B gene is not only associated with susceptibility to PCOS, but also contributes to the PCOS phenotype.

  7. Association of Genetic Polymorphisms in CDH1 and CTNNB1 with Breast Cancer Susceptibility and Patients' Prognosis among Chinese Han Women.

    PubMed

    Jia, Yu-Mian; Xie, Yun-Tao; Wang, Ya-Jun; Han, Ji-Yuan; Tian, Xin-Xia; Fang, Wei-Gang

    2015-01-01

    This study aims to investigate whether the germline variants in CDH1 and CTNNB1 would affect breast cancer susceptibility and patients' prognosis among Chinese Han women using a haplotype-based association analysis. We genotyped 12 haplotype-tagging single nucleotide polymorphisms (htSNPs) in CDH1 and CTNNB1 among 1,160 BC cases and 1,336 age-matched cancer-free controls using the TaqMan® Genotyping Assay. For association analyses of germline variants with breast cancer susceptibility, the results showed that rs7200690, rs7198799, rs17715799, rs13689 and diplotype CGC/TGC (rs7200690 + rs12185157 + rs7198799) in CDH1 as well as rs2293303 in CTNNB1 were associated with increased breast cancer risk. In addition, the Generalized Multifactor Dimensionality Reduction (GMDR) and logistic regression analysis predicted an interaction on breast cancer risk between rs17715799 and rs13689 as well as rs13689 and menarche-FFTP (First Full-Term Pregnancy) interval. For survival analyses, the results demonstrated that the minor allele homozygotes of rs13689 and haplotype TGC in CDH1 were linked with unfavorable event-free survival of breast cancer, whereas, rs4783689 of CDH1 showed the opposite effect under dominant model. Notably, the stratified analysis revealed that rs7186053 was associated with favorable event-free survival among patients with estrogen receptor (ER)-positive, progesterone receptor (PR)-positive or lymph node metastasis negative patients. Moreover, rs7200690 and rs7198799 in CDH1 as well as rs4533622 in CTNNB1 were associated with worse event-free survival among patients with clinical stage 0-I tumors. This study indicated that the genetic polymorphisms of CDH1 and CTNNB1 were associated with breast cancer susceptibility and patients' prognosis.

  8. Association Between P2RX7 Gene and Hepatocellular Carcinoma Susceptibility: A Case-Control Study in a Chinese Han Population.

    PubMed

    Duan, Shaobo; Yu, Jie; Han, Zhiyu; Cheng, Zhigang; Liang, Ping

    2016-06-06

    BACKGROUND Hepatocellular carcinoma (HCC) is one of the most common types of liver cancer. It is hypothesized that P2RX7 genetic polymorphisms have strong association with HCC susceptibility. Therefore, a case-control study was designed and performed to verify the association between P2RX7 gene polymorphisms and HCC susceptibility. MATERIAL AND METHODS A total of 646 subjects were recruited in our study, including 323 HCC patients and 323 healthy controls. Five gene polymorphisms, -762C>T (rs2393799), 946G>A (rs28360457), 1513A>C (rs3751143), 1068G>A (rs1718119), and 1096C>G (rs2230911), were selected. Odds ratio (ORs) and 95% confidence interval (CI) were used to quantify the association between P2RX7 gene polymorphisms and the susceptibility to HCC. All tests were performed using SPSS 20 and a 2-sided P value of less than 0.05 was considered to be statistically significant. RESULTS Our results suggest that allelic frequencies of these 5 SNPs all conformed to Hardy-Weinberg equilibrium (HWE). There was no significant difference in genotype and allele distributions of -762C>T and 1096C>G between the case group and the control group. However, an increased risk of HCC was associated with 946G>A (A vs. G: OR=1.48, 95%CI=1.09-2.01, P=0.013; GA+AA vs. GG: OR=1.46, 95%CI=1.03-2.07, P=0.033). A similar increased risk was associated with 1513A>C polymorphism (C vs. A: OR=1.37, 95%CI=1.05-1.79, P=0.021; AC+CC vs. AA: OR=1.40, 95%CI=1.01-1.93, P=0.041). On the other hand, a decreased risk of HCC was associated with gene polymorphism of 1068G>A (A vs. G: OR=0.68, 95%CI=0.51-0.91, P=0.010; GA+AA vs. GG: OR=0.68, 95%CI=0.49-0.96, P=0.027; AA vs. GG: OR=0.42, 95%CI=0.18-0.99, P=0.048). CONCLUSIONS Our results suggest that 3 of the 5 polymorphisms of P2RX7 described above (1513A>C, 946G>A, and 1068G>A) are significantly associated with HCC susceptibility in a Chinese Han population. Studies with larger sample sizes are recommended to confirm whether our results will be applicable

  9. Association of NOS2 and NOS3 gene polymorphisms with susceptibility to type 2 diabetes mellitus and diabetic nephropathy in the Chinese Han population.

    PubMed

    Chen, Feng; Li, Yu-Mei; Yang, Lin-Qing; Zhong, Cai-Gao; Zhuang, Zhi-Xiong

    2016-07-01

    Inducible nitric oxide synthase (NOS2) and endothelial nitric oxide synthase (NOS3) gene play important roles in the susceptibility to type 2 diabetes mellitus (T2DM). The present study aims to detect the potential association of NOS2 and NOS3 gene polymorphisms with the susceptibility toT2DM and diabetic nephropathy (DN) in the Chinese Han population. Four hundred and ninety T2DM patients and 485 healthy controls were enrolled in this case-control study. The genotypes of NOS2 and NOS3 gene polymorphisms were analyzed by the polymerase chain reaction (PCR)-ligase detection reaction (LDR) method. Our data demonstrated that the NOS2 rs2779248 and NOS2 rs1137933 genetic polymorphisms were significantly associated with the increased susceptibility to T2DM in the heterozygote comparison, dominant model, and allele contrast; and NOS3 rs3918188 genetic polymorphism was significantly associated with the increased susceptibility to T2DM in the homozygote comparison and recessive model. The allele-C and genotype-TC of NOS2 rs2779248, allele-A and genotype-GA of NOS2 rs1137933 and genotype-AA of NOS3 rs3918188 genetic polymorphisms might be the risk factors for increasing the susceptibility to T2DM. And a significant haplotype effect of NOS2 rs10459953/C- rs1137933/G- rs2779248/T was found between T2DM cases and controls. Moreover, NOS3 rs1800783 polymorphism was significantly associated with the increased susceptibility to DN in the heterozygote comparison, recessive model and allele contrast. At last, a positive correlation of family history of diabetes with NOS3 rs11771443 polymorphism was found in DN. These preliminary findings indicate that the NOS2 rs2779248, NOS2 rs1137933, and NOS3 rs3918188 genetic polymorphisms are potentially related to the susceptibility to T2DM, and the rs1800783 polymorphism might be considered as genetic risk factors for diabetic nephropathy, and family history of diabetes was closely associated with rs11771443 polymorphism in DN, and the

  10. Two-stage association study in Chinese Han identifies two independent associations in CCR1/CCR3 locus as candidate for Behçet's disease susceptibility.

    PubMed

    Hou, Shengping; Xiao, Xiang; Li, Fuzhen; Jiang, Zhengxuan; Kijlstra, Aize; Yang, Peizeng

    2012-12-01

    Previous GWAS studies from Turkey suggested a potential risk locus at CCR1/CCR3 for Behçet's disease. However, this locus did not reach the GWAS significance threshold and has not yet been examined in other ethnic populations. The current study aimed to explore whether this locus was associated with Behçet's disease in Chinese Han and the functional role of the identified variants. A two-stage association study was performed in 653 patients and 1,685 controls using the iPLEX system. Real-time PCR was performed to examine the expression level of CCR1 and CCR3 genes. Haplotype analysis was used to construct the haplotype block. Logistic regression analysis was applied to calculate the independence of multiple associations. Bonferroni correction was applied to account for multiple testing. First stage analysis showed that ten SNPs, located in 3'UTR, 5'UTR in CCR1 or 5'UTR in CCR3, were significantly associated with Behçet's disease (P(c) = 0.018 to 1.3 × 10(-3)). The associations of six SNPs within this locus are independent after control for the genetic effect of rs17282391 using logistic regression analysis. Haplotype analysis identified three associated haplotypes: H3 (GTGAC), H6 (CCATTA) and H9 (CGA) (P(c) = 0.04 to 7.79 × 10(-4)). Three SNPs rs13084057, rs13092160 and rs13075270 showed consistent association in replication and combining studies (replication P(c) = 5.31 × 10(-5) to 1.44 × 10(-5); combining P(c) = 2.76 × 10(-7) to 6.50 × 10(-8)). Interestingly, eQTLs database reveals that SNP rs13092160 is eQTLs SNP, suggesting that this SNP is likely to be functional SNP that directly affects gene expression. The expression of CCR1 and CCR3 was increased in individuals with the CT genotype of rs13092160 (P < 0.05). No significant difference was found for the mRNA level of CCR1 and CCR3 between Behçet's patients and controls. These findings strongly indicate CCR1/CCR3 as a novel locus underlying Behçet's disease.

  11. Association study between genome-wide significant variants of vitamin B12 metabolism and gastric cancer in a han Chinese population.

    PubMed

    Zhao, Lei; Wei, Yucai; Song, Ailing; Li, Yumin

    2016-04-01

    Gastric cancer is one of the leading causes of cancer mortality worldwide. Accumulating evidence suggests that vitamin B12 plays an important role in the development of gastric cancer. Genome-wide association studies on metabolites in the one-carbon metabolism pathway identified several vitamin B12-related polymorphisms. Therefore, we investigated the association between variants within vitamin B12-related genes and gastric cancer in a Han Chinese population. Eight variants within the genome were significant vitamin B12-related genes, and they were selected for analysis in this case-control study. This study used a total of 492 gastric cancer patients and 550 noncancer controls. The variant rs526934 from the TCN1 gene was associated with an increased risk of developing gastric cancer. Increased risks of gastric cancer occurrence were observed in the minor G allele (OR = 1.25, 95% CI = 1.03-1.52, P = 0.031) and GG genotype (OR = 2.06, 95% CI = 1.24-3.42, P = 0.0043) compared with the wild-type A allele and AA-GA genotype, respectively. In the haplotypic analysis, we found that the CUBN haplotypes were associated with an altered gastric cancer risk. The rs1801222T/rs11254363A (OR = 1.40, 95% CI = 1.05-1.86, P = 0.021) and rs1801222C/rs11254363G (OR = 4.39, 95% CI = 2.32-8.30, P < 0.0001) haplotypes exhibited an increased gastric cancer risk, while rs1801222T/rs11254363G showed protective effects against gastric cancer (OR = 0.43, 95% CI = 0.25-0.73, P = 0.002) compared with the wild-type rs1801222C/rs11254363A haplotype. The circulating vitamin B12 concentration-related variants were associated with the occurrence of gastric cancer. This finding shed light on the unexpected role of vitamin B12 metabolism genes in gastric carcinogenesis and highlighted the interplay of diet, genetics, and human cancers.

  12. Association study between the TP53 Rs1042522G/C polymorphism and susceptibility to systemic lupus erythematosus in a Chinese Han population.

    PubMed

    Yang, Jie; Zhu, Ji-Min; Wu, Song; Li, Jing; Wang, Ming-Rui; Wang, Ting-Ting; Lu, Yu-Wei

    2017-04-01

    Tumour suppressor protein 53 (p53) plays a central role in apoptosis, cell proliferation and death. Previously studies found contribution of functional p53 Arg72Pro polymorphism (TP53 rs1042522G/C polymorphism) in the development of systemic lupus erythematosus (SLE) remains controversial. In this study, for the first time, we evaluated its association with SLE in a Chinese Han population. This case-control study enrolled 1470 SLE patients and 2283 healthy controls. The genotyping of TP53 rs1042522 polymorphism was determined by Sequenom Mass ARRAY technology. Statistical analysis was conducted by Chi-square test (χ (2) test). Odds ratio (OR) with 95% confidence interval (CI) was calculated using unconditional logistic regression with adjusting age and sex. Allele and genotype frequencies of TP53 rs1042522G/C polymorphism showed statistically significant difference between the SLE patients and the normal controls (C vs. G: OR = 0.89, 95% CI 0.89-0.97, p = 0.01; (GC + CC) vs. GG using recessive model: OR = 0.84, 95% CI 0.73-0.96, p = 0.01; GC vs. GG using co-dominant model: OR = 0.86, 95% CI 0.74-0.99, p = 0.04; CC vs. GG using co-dominant model: OR = 0.80, 95% CI 0.66-0.96, p = 0.02; GC vs. GG using co-dominant model: OR = 0.86, 95% CI 0.74-0.99, p = 0.02). In addition, there was weak association between discoid rash and distribution of TP53 rs1042522G/C polymorphism in SLE patients (C vs. G: OR = 1.25, 95% CI 1.00-1.55, p = 0.04; CC vs. GG using co-dominant model: OR = 1.54, 95% CI 1.10-2.36, p = 0.04). Our finding suggests a significant relationship between the TP53 rs1042522G/C polymorphism and SLE. TP53 rs1042522G/C polymorphism would be promising as an indicator of SLE as well as the therapeutic target if its functions and mechanisms could be further investigated.

  13. Association Study of a Proliferation-inducing Ligand, Spermatogenesis Associated 8, Platelet-derived Growth Factor Receptor-alpha, and POLB Polymorphisms with Systemic Lupus Erythematosus in Chinese Han Population

    PubMed Central

    Li, Ping; Li, Yuan; Zhou, Ai-Hong; Chen, Si; Li, Jing; Wen, Xiao-Ting; Wu, Zi-Yan; Li, Liu-Bing; Zhang, Feng-Chun; Li, Yong-Zhe

    2016-01-01

    Background: Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. This study was conducted to examine whether the association of a proliferation-inducing ligand (APRIL), spermatogenesis associated 8 (SPATA8), platelet-derived growth factor receptor-alpha (PDGFRA), and DNA polymerase beta (POLB) with SLE can be replicated in a Chinese Han population. Methods: Chinese SLE patients (n = 1247) and ethnically and geographically matched healthy controls (n = 1440) were genotyped for the APRIL, SPATA8, PDGFRA, and POLB single-nucleotide polymorphisms (SNPs), rs3803800, rs8023715, rs1364989, and rs12678588 using the Sequenom MassARRAY System. Results: The Chinese Han SLE patients and controls had statistically similar frequencies of alleles and genotypes of four gene polymorphisms. Moreover, no association signal was detected on different genetic models (additive, dominant, and recessive, all, P > 0.05) or in SLE subgroups stratified by various clinical manifestations (all, P > 0.05). Conclusions: Different genetic backgrounds from different ancestries and various populations may result in different genetic risk factors for SLE. We did not detect any significant association with SNPs of APRIL, SPATA8, PDGFRA, and POLB. PMID:27569236

  14. Association Study of Reported Significant Loci at 5q35.3, 7p14.3, 13q14.1 and 16p12.3 with Urolithiasis in Chinese Han Ethnicity

    PubMed Central

    Wang, Lujia; Feng, Chenchen; Ding, Guanxiong; Lin, Xiaoling; Gao, Peng; Jiang, Haowen; Xu, Jianfeng; Ding, Qiang; Wu, Zhong

    2017-01-01

    In this study, we aimed to validate the association of 8 reported significant loci at 5q35.3, 7p14.3, 13q14.1 and 16p12.3 with urolithiasis in Chinese Han population. We performed case-control association analysis using 624 patients with nephrolithiasis and 1008 control subjects. We selected single-nucleotide polymorphism (SNPs) including rs12654812 and rs11746443 from 5q32.3; rs12669187 and rs1000597 from 7q14.3; rs7981733, rs4142110 and rs17646069 from 13q14.1 and rs4293393 from 16p12.3 which were previously reported to be associated with nephrolithiasis. We found none of these eight reported SNPs were significant associated with urolithiasis risk in Chinese Han population, which suggested that differences could exist in the mechanisms of calcium urolithiasis between Chinese and Japanese Ethnics. The A allele of rs12669187 was significantly correlated with increased level of serum magnesium. The C allele of rs1000597 was associated with higher levels of serum creatinine, uric acid, calcium and lower urine pH level. The T allele of rs4142110 was correlated with higher levels of serum magnesium, phosphorus, and lower AKP level. The G alleles of rs4293393 was associated with higher serum CO2 level. The risk alleles of these SNPs were proved to be associated with the electrolytes metabolism that may result in the formation of urolithiasis. PMID:28361944

  15. Caries prevention in Chinese children with sodium fluoride dentifrice delivered through a kindergarten-based oral health program in China.

    PubMed

    You, Bian J; Jian, Wang W; Sheng, Rong W; Jun, Qian; Wa, Wang C; Bartizek, Robert D; Biesbrock, Aaron R

    2002-01-01

    group had an 22.1% reduction in dmfs compared to the placebo treatment group that was statistically significant (p = 0.014). In contrast to the primary examiner, there was a county-by-treatment interaction for the secondary examiner's results necessitating that the counties be examined independently. In Miyun county, the sodium fluoride/school program group had a 39.9% reduction in caries compared to the placebo/no program group that was statistically significant (p = 0.001). In Huairou county, the sodium fluoride/school program group had a 6.8% reduction in caries compared to the placebo/no program group that was not statistically significant (p > 0.05). These results demonstrate that fluoride in conjunction with increased dental awareness can deliver important reductions in caries in preschool children.

  16. MICA genetic polymorphism and HLA-A,C,B,MICA and DRB1 haplotypic variation in a southern Chinese Han population: identification of two new MICA alleles, MICA*060 and MICA*062.

    PubMed

    Tian, Wei; Cai, JinHong; Liu, XueXiang

    2011-06-01

    In this study, 201 healthy, unrelated Han subjects in Hunan province, southern China, were investigated by sequence-based typing (SBT) for the allelic variation of the human major histocompatibility complex (MHC) class I chain-related gene A (MICA). Nineteen MICA alleles were observed, among which MICA*008:01 predominated with gene frequency of 30.35%. There was significant linkage disequilibrium (LD) of MICA*012:01 with HLA-B*54 and HLA-B*55, which was not observed in a northern Chinese Han population. Haplotype HLA-A*11-C*07-B60-MICA*008:01 (9.16%) was highly specific to this southern Chinese Han population. The most common five-locus haplotype in this population was HLA-A*02-C*01-B*46-MICA*010-DRB1*09 (8.73%). A new MICA allele, MICA*060, was identified on an HLA-A*02-C*01-B*55:02-DRB1*14 haplotype through extended family analysis. MICA*060 has probably arisen from MICA*012:01. Another new MICA allele, MICA*062, was identified by screening 1432 subjects using polymerase chain reaction-sequence-specific priming technology. MICA*062 has probably derived from MICA*010. Of particular interest is that MICA*062 was carried on an HLA-C*08-B*48:01-DRB1*14 haplotypic segment, as HLA-B*48 has been consistently shown to be primarily linked to MICA gene deletion in east Asian populations. Our results provide new insight into MICA genetic polymorphism in human populations. The findings reported here are of importance for future studies on the potential role of MICA in allogeneic organ transplantation and disease association in populations of Chinese ancestry.

  17. Anthropometric Measures of 9- to 10-Year-Old Native Tibetan Children Living at 3700 and 4300 m Above Sea Level and Han Chinese Living at 3700 m

    PubMed Central

    Bianba, Bianba; Yangzong, Yangzong; Gonggalanzi, Gonggalanzi; Berntsen, Sveinung; Andersen, Lars Bo; Stigum, Hein; Nafstad, Per; Bjertness, Espen

    2015-01-01

    Abstract A high residential altitude impacts on the growth of children, and it has been suggested that linear growth (height) is more affected than body mass. The aim of the present study was to estimate the prevalence of obesity, overweight, underweight, and stunting in groups of native Tibetan children living at different residential altitudes (3700 vs 4300 m above sea level) and across ancestry (native Tibetan vs Han Chinese children living at the same altitude of 3700 m), as well as to examine the total effect of residential altitude and ancestry with stunting. Two cross-sectional studies of 1207 school children aged 9 to 10 years were conducted in Lhasa in 2005 and Tingri in 2007. Conventional age- and sex-specific cutoff values were used for defining underweight, normal weight, overweight, or obesity, whereas stunting was defined from sex-specific height-for-age z-scores (≤−2.0). The prevalence of underweight was high at 36.7% among Tingri Tibetan girls and 31.1% in Tingri Tibetan boys. The prevalence was statistically significant lower in Lhasa Tibetan girls (20.2%) than in both Tingri Tibetan girls and Han Chinese girls (33.7%), with a similar trend seen among boys. Severe and moderate stunting were found in 14.6% and 35.7%, respectively, of Tingri children, and near null among Han Chinese and native Tibetans in Lhasa. In logistic regression analyses, socioeconomic status and diet did not substantially change the observed crude association (total effect) (odds ratio [OR] = 3.3; 95% confidence interval [CI] 1.1–10.3) between ancestry and stunting. Similarly, adjustment for diet did not alter the crude association (direct effect) (OR = 101.3; 95% CI 37.1–276.4) between residential altitude and stunting. The prevalence estimates of stunting and underweight were high, and clearly higher among native Tibetan children living at a higher residential altitude (Tingri) than the lower residential altitude (Lhasa), in addition to being higher among

  18. -141C insertion/deletion polymorphism of the dopamine D2 receptor gene is associated with schizophrenia in Chinese Han population: Evidence from an ethnic group-specific meta-analysis.

    PubMed

    Zhao, Xiaofeng; Huang, Yinglin; Chen, Kaiyuan; Li, Duolu; Han, Chao; Kan, Quancheng

    2016-09-01

    Accumulate evidence has implicated dopamine D2 receptor gene polymorphisms in the etiology of schizophrenia. A single nucleotide polymorphism, -141C insertion/deletion (Ins/Del) (rs1799732), in the promoter region of the dopamine D2 receptor gene has been linked to schizophrenia; however, the data are inconclusive. This study investigated whether the -141C polymorphism is associated with the risk of schizophrenia in different ethnic groups by performing a meta-analysis. A total of 24 case-control studies examining the association between -141C Ins/Del polymorphism and schizophrenia were identified according to established inclusion criteria. Significant association was revealed between -141C Ins/Del polymorphism and schizophrenia risk in dominant genetic model (Ins/Ins + Ins/Del versus Del/Del) (odds ratio = 0.33, 95% confidence interval = 0.14-0.81, z = 2.41, P = 0.02) in Chinese Han but not in Caucasian, Japanese or India populations. Our results indicate that -141C Ins/Del polymorphism might be a susceptibility factor for schizophrenia in Chinese Han population.

  19. Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA{sup Ser(UCN)} G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss

    SciTech Connect

    Yuan Huijun; Chen Jing; Liu Xin; Cheng Jing; Wang Xinjian; Yang Li; Yang Shuzhi; Cao Juyang; Kang Dongyang; Dai Pu; Zha, Suoqiang; Han Dongyi Young Wieyen Guan Minxin

    2007-10-12

    Mutations in mitochondrial DNA are one of the important causes of hearing loss. We report here the clinical, genetic, and molecular characterization of two Han Chinese pedigrees with maternally transmitted aminoglycoside-induced and nonsyndromic bilateral hearing loss. Clinical evaluation revealed the wide range of severity, age-at-onset, and audiometric configuration of hearing impairment in matrilineal relatives in these families. The penetrances of hearing loss in these pedigrees were 20% and 18%, when aminoglycoside-induced deafness was included. When the effect of aminoglycosides was excluded, the penetrances of hearing loss in these seven pedigrees were 10% and 15%. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the presence of the deafness-associated 12S rRNA C1494T and CO1/tRNA{sup Ser(UCN)} G7444A mutations. Their distinct sets of mtDNA polymorphism belonged to Eastern Asian haplogroup C4a1, while other previously identified six Chinese mitochondrial genomes harboring the C1494T mutation belong to haplogroups D5a2, D, R, and F1, respectively. This suggested that the C1494T or G7444A mutation occurred sporadically and multiplied through evolution of the mitochondrial DNA (mtDNA). The absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in their mtDNA suggest that these mtDNA haplogroup-specific variants may not play an important role in the phenotypic expression of the 12S rRNA C1494T and CO1/tRNA{sup Ser(UCN)} G7444A mutations in those Chinese families. However, aminoglycosides and other nuclear modifier genes play a modifying role in the phenotypic manifestation of the C1494T mutation in these Chinese families.

  20. The association between the rs11196218A/G polymorphism of the TCF7L2 gene and type 2 diabetes in the Chinese Han population: a meta-analysis

    PubMed Central

    Ma, Enting; Wang, Huili; Guo, Jing; Tian, Ruirui; Wei, Li

    2015-01-01

    Transcription factor 7-like 2 has been shown to be associated with type 2 diabetes mellitus in multiple ethnic groups in recent years. In the Chinese Han population in particular, numerous studies have evaluated the association between the rs11196218A/G polymorphism of the transcription factor 7-like 2 gene and type 2 diabetes mellitus. However, the results have been inconsistent, so we performed a meta-analysis to assess the association. Odds ratio and 95% confidence interval values were calculated using a random-effects model or a fixed-effects model based on heterogeneity analysis. The quality of the included studies was evaluated using the Newcastle-Ottawa Scale. Subgroup analyses were conducted based on conformity with Hardy-Weinberg equilibrium in the control group as well as on other variables, such as age, sex and body mass index. Sensitivity analysis was also performed to detect heterogeneity and to assess the stability of the results. In total, 10 case-control studies comprising 7,491 cases and 12,968 controls were included in this meta-analysis. The combined analysis indicated that the rs11196218A/G polymorphism was not associated with type 2 diabetes mellitus (G vs. A, OR=1.04, 95% CI=0.97-1.13, p=0.28). The subgroup analyses also did not show any association between the rs11196218A/G polymorphism and the risk of type 2 diabetes mellitus. Furthermore, the results of the subgroup analyses indicated that the absence of an association was not influenced by age, sex or body mass index. The results of the sensitivity analysis verified the reliability and stability of this meta-analysis. In conclusion, this study indicated that there is no significant association between the rs11196218A/G polymorphism and the risk of type 2 diabetes mellitus in the Chinese Han population. PMID:26247673

  1. [The analysis of Leber's hereditary optic neuropathy associated with mitochondrial tRNAAla C5601T mutation in seven Han Chinese families].

    PubMed

    Zhou, Hui-Hui; Dai, Xian-Ning; Lin, Bei; Mi, Hui; Liu, Xiao-Ling; Zhao, Fu-Xin; Zhang, Juan-Juan; Zhou, Xiang-Tian; Sun, Yan-Hong; Wei, Qi-Ping; Qu, Jia; Guan, Min-Xin

    2012-08-01

    We reported here the clinical, genetic, and molecular characterization of Leber's hereditary optic neuropathy (LHON) with C5601T mutation in seven Chinese families. The ophthalmologic examinations of seven Chinese families who were clinically diagnosed LHON were conducted. Strikingly, these families exhibited very low penetrance of visual impairment, and the penetrance was 9.5%, 14.3%, 4.5%, 8.3%, 10.0%, 22.2% and 25.0%. Meanwhile, entire mitochondrial genome of seven probands was amplified by PCR using 24 pairs of oligonucleotide primers with overlapping fragments. Molecular analysis of mitochondrial DNA (mtDNA) in these pedigrees revealed the absence of three common LHON associated G11778A, G3460A and T14484C mutations but the presence of homoplastic LHON associated tRNAAla C5601T mutation in probands and other matrilineal relatives. These mtDNA polymorphism sites belongs to the Asian haplogroups G2, G2a1, G2a1, G2, G2b, G2a1 and G2. By analyzing mitochondrial genome, seven LHON families all carry the C5601T mutation. The C5601T mutation occurs at the highly conserved nucleotide (conventional position 59) of tRNAAla, thereby contributing to the structural formation and stabilization of functional tRNAs and leading to mitochondrial dysfunction involved in visual impairment. The incomplete penetrance of visual loss in these seven Chinese pedigrees strongly indicates that the tRNAAla C5601T mutation was itself insufficient to produce a clinical phenotype. The lack of functional mtDNA variants in these pedigrees ruled out the role of mitochondrial background in the phenotypic expression of visual loss. Therefore, nuclear backgrounds and environmental factors seem to be modifying factors for the phenotypic manifestation of the tRNAAla C5601T mutation in the seven Chinese families.

  2. Polymorphic variations in manganese superoxide dismutase (MnSOD) and endothelial nitric oxide synthase (eNOS) genes contribute to the development of type 2 diabetes mellitus in the Chinese Han population.

    PubMed

    Li, J Y; Tao, F; Wu, X X; Tan, Y Z; He, L; Lu, H

    2015-10-21

    Impaired antioxidant defense increases the oxidative stress and contributes to the development of type 2 diabetes mellitus (T2DM). MnSOD and eNOS are important antioxidant enzymes. This aim of this study was to verify the association of MnSOD and eNOS tagSNPs with T2DM in a Chinese Han population. Four tagSNPs of MnSOD and eight tagSNPs of eNOS were detected using TaqMan technology in 1272 healthy controls and 1234 T2DM patients. All study participants were unrelated members of the Han ethnic group in China. In this study, the frequency of the rs4880 MnSOD single nucleotide polymorphisms (SNP) genotype differed significantly between T2DM patients and controls [allele: P = 0.03, genotype: P = 0.04, odd's ratio (OR) = 1.26; 95% confidence interval (CI) = 1.07-1.49]. The A-T haplotype and G-T haplotype remained significant in T2DM after Bonferroni correction (P = 1.58 x 10(-6) and 8.00 x 10(-4), respectively) with a global p-value of 7.25 x 10(-8). The rs1799983 and rs891512 SNPs of eNOS differed significantly between T2DM patients and controls [rs1799983: corrected allele: P = 2.10 x 10(-3), corrected genotype: P = 6.30 x 10(-3), OR = 1.43 (95%CI = 1.18-1.73); rs891512, corrected allele: P = 3.50 x 10(-3), corrected genotype: P = 9.10 x 10(-3), OR = 1.70 (95%CI = 1.26-2.30)]. Following Bonferroni correction, none of the haplotypes of eNOS were significant in T2DM. These results indicate that common variants in MnSOD and eNOS increased the risk of T2DM in the Chinese Han population.

  3. Polymorphisms in Four Genes (KCNQ1 rs151290, KLF14 rs972283, GCKR rs780094 and MTNR1B rs10830963) and Their Correlation with Type 2 Diabetes Mellitus in Han Chinese in Henan Province, China.

    PubMed

    Gao, Kaiping; Wang, Jinjin; Li, Linlin; Zhai, Yujia; Ren, Yongcheng; You, Haifei; Wang, Bingyuan; Wu, Xuli; Li, Jianna; Liu, Zichen; Li, Xiong; Huang, Yaxin; Luo, Xin-Ping; Hu, Dongsheng; Ohno, Kinji; Wang, Chongjian

    2016-02-26

    Genetic variants at KCNQ1 rs151290, KLF14 rs972283, GCKR rs780094 and MTNR1B rs10830963 have been associated with type 2 diabetes mellitus (T2DM), but the results are contradictory in Chinese populations. The aim of the present study was to investigate the association of these four SNPs with T2DM in a large population of Han Chinese at Henan province, China. Seven-hundred-thirty-six patients with T2DM (cases) and Seven-hundred-sixty-eight healthy glucose-tolerant controls were genotyped for KCNQ1 rs151290, KLF14 rs972283, GCKR rs780094 and MTNR1B rs10830963. The association of genetic variants in these four genes with T2DM was analyzed using multivariate logistic regression. Genotypes and allele distributions of KCNQ1 rs151290 were significantly different between the cases and controls (p < 0.05). The AC and CC genotypes and the combined AC + CC genotype of rs151290 in KCNQ1 were associated with increases risk of T2DM before (OR = 1.482, 95% CI = 1.062-2.069; p = 0.021; OR = 1.544, 95% CI = 1.097-2.172, p = 0.013; and OR = 1.509, 95% CI = 1.097-2.077, p = 0.011, respectively) and after (OR = 1.539, 95% CI = 1.015-2.332, p = 0.042; OR = 1.641, 95% CI = 1.070-2.516, p = 0.023; and OR = 1.582, 95% CI = 1.061-2.358, p = 0.024; respectively) adjustment for sex, age, anthropometric measurements, biochemical indexes, smoking and alcohol consumption. Consistent with results of genotype analysis, the C allele of rs151290 in KCNQ1 was also associated with increased risk of T2DM (OR = 1.166, 95% CI = 1.004-1.355, p = 0.045). No associations between genetic variants of KLF14 rs972283, GCKR rs780094 or MTNR1B rs10830963 and T2DM were detected. The AC and CC genotypes and the C allele of rs151290 in KCNQ1 may be risk factors for T2DM in Han Chinese in Henan province.

  4. Genome-Wide Association Study Identifies a Novel Susceptibility Locus at 12q23.1 for Lung Squamous Cell Carcinoma in Han Chinese

    PubMed Central

    Wu, Chen; Guo, Huan; Zhou, Baosen; Lv, Jiachun; Lu, Daru; Shi, Yongyong; Shu, Yongqian; Xu, Lin; Chu, Minjie; Wang, Cheng; Zhang, Ruyang; Dai, Juncheng; Jiang, Yue; Yu, Dianke; Ma, Hongxia; Zhao, Xueying; Yin, Zhihua; Yang, Lei; Li, Zhiqiang; Deng, Qifei; Cao, Songyu; Qin, Zhenzhen; Gong, Jianhang; Sun, Chongqi; Wang, Jiucun; Wu, Wei; Zhou, Guoquan; Chen, Hongyan; Guan, Peng; Chen, Yijiang; Liu, Xiangyang; Liu, Li; Xu, Pin; Han, Baohui; Bai, Chunxue; Zhao, Yuxia; Zhang, Haibo; Yan, Ying; Liu, Jibin; Amos, Christopher I.; Chen, Feng; Tan, Wen; Jin, Li; Wu, Tangchun; Hu, Zhibin; Lin, Dongxin; Shen, Hongbing

    2013-01-01

    Adenocarcinoma (AC) and squamous cell carcinoma (SqCC) are two major histological subtypes of lung cancer. Genome-wide association studies (GWAS) have made considerable advances in the understanding of lung cancer susceptibility. Obvious heterogeneity has been observed between different histological subtypes of lung cancer, but genetic determinants in specific to lung SqCC have not been systematically investigated. Here, we performed the GWAS analysis specifically for lung SqCC in 833 SqCC cases and 3,094 controls followed by a two-stage replication in additional 2,223 lung SqCC cases and 6,409 controls from Chinese populations. We found that rs12296850 in SLC17A8-NR1H4 gene region at12q23.1 was significantly associated with risk of lung SqCC at genome-wide significance level [additive model: odds ratio (OR) = 0.78, 95% confidence interval (CI) = 0.72–0.84, P = 1.19×10−10]. Subjects carrying AG or GG genotype had a 26% (OR = 0.74, 95% CI = 0.67–0.81) or 32% (OR = 0.68, 95% CI = 0.56–0.83) decreased risk of lung SqCC, respectively, as compared with AA genotype. However, we did not observe significant association between rs12296850 and risk of lung AC in a total of 4,368 cases with lung AC and 9,486 controls (OR = 0.96, 95% CI = 0.90–1.02, P = 0.173). These results indicate that genetic variations on chromosome 12q23.1 may specifically contribute to lung SqCC susceptibility in Chinese population. PMID:23341777

  5. Association of interleukin-6-572C/G gene polymorphism and serum or cerebrospinal fluid interleukin-6 level with enterovirus 71 encephalitis in Chinese Han patients with hand, foot, and mouth disease.

    PubMed

    Yuan, Aiyun; Li, Jian; Liu, Peipei; Chen, Zongbo; Hou, Mei; Wang, Jinju; Han, Zhenliang

    2015-04-01

    Interleukin-6 (IL-6), as one of pro-inflammatory cytokines, plays a key role in Enterovirus 71 (EV71) encephalitis. We investigated the association of IL-6-572C/G polymorphism and serum or cerebrospinal fluid (CSF) IL-6 level with EV71 encephalitis in patients with hand, foot, and mouth disease (HFMD). This study was carried out in 59 Chinese Han patients with EV71 encephalitis, 128 EV71-related HFMD without complications, and 232 controls. The IL-6-572C/G polymorphism was detected by polymerase chain reaction-restricted fragment length polymorphism gene analysis. Serum or CSF IL-6 levels were determined using a commercial enzyme-linked immunosorbent assay. The patients with EV71 encephalitis had a higher frequency of IL-6-572GG/GC genotype compared to the patients with EV71-related HFMD without encephalitis complications (40.7 vs. 15.6 %, odds ratio (OR)=3.70, 95 % confidence interval (CI)=1.83-7.50, p=0.001). Similarly, the frequency of IL-6-572 G allele among the patients with EV71 encephalitis was also higher than that of patients with EV71-related HFMD without encephalitis complications (23.7 vs. 8.6 %, OR=3.31, 95 % CI=1.80-6.08, p<0.001). Serum IL-6 levels in G carries (CG + GG) (195.1 ± 11.8 pg/ml) elevated significantly compared to CC homozygotes (167.7 ± 6.7 pg/ml) in EV71-infected patients (p<0.001), but no significant differences were observed in CSF IL-6 levels among different genotypes in patients with EV71 encephalitis. Furthermore, G carriers (GG + GC) (10.6 ±.29 mg/l) had significantly higher blood CRP levels compared to CC homozygotes (9.31 ± 1.93 mg/l) in patients with EV71 encephalitis (p=0.005). These findings suggested that IL-6-572 G allele was significantly associated with the susceptibility to EV71 encephalitis in Chinese Han patients, and IL-6-572 G allele might elevate the risk to EV71 encephalitis.

  6. Association of the Endothelial Nitric Oxide Synthase Gene T786C Polymorphism with In-Stent Restenosis in Chinese Han Patients with Coronary Artery Disease Treated with Drug-Eluting Stent

    PubMed Central

    Zeng, Wen-ping; Zhang, Rui; Li, Ran; Luo, Jin-fang

    2017-01-01

    Background and aim Many studies have reported that genetic variants correlate with higher risk for coronary artery disease (CAD) or in-stent restenosis (ISR) after bare metal stent (BMS) implantation. However, there is limited data assessing the impact of these variants on ISR in patients treated with drug-eluting stent (DES). The purpose of this study was to investigate the effects of genetic risk factors on ISR in Chinese Han patients treated with DES. Methods A total of 425 patients with a diagnosis of CAD who underwent successful revascularization in native coronary arteries with DES were included in this retrospective study. Genotyping was performed on six single nucleotide polymorphisms (SNPs) in the endothelial nitric oxide synthase gene (eNOS), the angiotensin converting enzyme gene (ACE), the angiotensin II type 1 receptor gene (AT1R), the transforming growth factor beta gene (TGF-β), and the vascular endothelial growth factor gene (VEGF). Quantitative coronary angiography (QCA) was performed during the follow-up period to detect ISR. Logistic regression models were used to test for association. Results Fifty-four patients (12.7%) developed ISR during the follow-up period. Of the six analyzed SNPs, the frequency of the C allele of T786C polymorphism in eNOS was significantly higher in the ISR group (22.2%) compared to the non-ISR group (12.7%) (p<0.01). In the ISR group, the frequency of the TT, TC, and CC genotypes was 61.1%, 33.3%, and 5.6%, respectively, and in the non-ISR group, the frequencies were 76.8%, 21.0%, and 2.2%, respectively. The multivariable analysis adjusted for potential confounders and revealed that the T786C polymorphism increased the risk of ISR in both additive and dominant models with odds ratios of 1.870 (95% confidence interval [CI]: 1.079–3.240, p = 0.03) and 2.045 (95% CI: 1.056–3.958, p = 0.03), respectively. Conclusion The eNOS T786C polymorphism was associated with ISR in Chinese Han patients treated with DES. Genotyping

  7. Identification of IGF1, SLC4A4, WWOX, and SFMBT1 as Hypertension Susceptibility Genes in Han Chinese with a Genome-Wide Gene-Based Association Study

    PubMed Central

    Yang, Hsin-Chou; Liang, Yu-Jen; Chen, Jaw-Wen; Chiang, Kuang-Mao; Chung, Chia-Min; Ho, Hung-Yun; Ting, Chih-Tai; Lin, Tsung-Hsien; Sheu, Sheng-Hsiung; Tsai, Wei-Chuan; Chen, Jyh-Hong; Leu, Hsin-Bang; Yin, Wei-Hsian; Chiu, Ting-Yu; Chern, Ching-Iuan; Lin, Shing-Jong; Tomlinson, Brian; Guo, Youling; Sham, Pak C.; Cherny, Stacey S.; Lam, Tai Hing; Thomas, G. Neil; Pan, Wen-Harn

    2012-01-01

    Hypertension is a complex disorder with high prevalence rates all over the world. We conducted the first genome-wide gene-based association scan for hypertension in a Han Chinese population. By analyzing genome-wide single-nucleotide-polymorphism data of 400 matched pairs of young-onset hypertensive patients and normotensive controls genotyped with the Illumina HumanHap550-Duo BeadChip, 100 susceptibility genes for hypertension were identified and also validated with permutation tests. Seventeen of the 100 genes exhibited differential allelic and expression distributions between patient and control groups. These genes provided a good molecular signature for classifying hypertensive patients and normotensive controls. Among the 17 genes, IGF1, SLC4A4, WWOX, and SFMBT1 were not only identified by our gene-based association scan and gene expression analysis but were also replicated by a gene-based association analysis of the Hong Kong Hypertension Study. Moreover, cis-acting expression quantitative trait loci associated with the differentially expressed genes were found and linked to hypertension. IGF1, which encodes insulin-like growth factor 1, is associated with cardiovascular disorders, metabolic syndrome, decreased body weight/size, and changes of insulin levels in mice. SLC4A4, which encodes the electrogenic sodium bicarbonate cotransporter 1, is associated with decreased body weight/size and abnormal ion homeostasis in mice. WWOX, which encodes the WW domain-containing protein, is related to hypoglycemia and hyperphosphatemia. SFMBT1, which encodes the scm-like with four MBT domains protein 1, is a novel hypertension gene. GRB14, TMEM56 and KIAA1797 exhibited highly significant differential allelic and expressed distributions between hypertensive patients and normotensive controls. GRB14 was also found relevant to blood pressure in a previous genetic association study in East Asian populations. TMEM56 and KIAA1797 may be specific to Taiwanese populations

  8. Gene-gene interaction of GJB2, SOD2, and CAT on occupational noise-induced hearing loss in Chinese Han population.

    PubMed

    Wang, Sheng Li; Yu, Lu Gang; Liu, Ren Ping; Zhu, Wan Zhan; Gao, Wei Min; Xue, Li Ping; Jiang, Xu; Zhang, Ya Han; Yi, Ding; Chen, Dong; Zhang, Yong Hong

    2014-12-01

    The effects of genetic factors on the noise-induced hearing loss (NIHL) are still unclear. In the present study, eight single-nucleotide polymorphisms (SNPs) included rs1227049 and rs3802711 (CDH23), rs1695 (GSTP1), rs137852540 (GJB2), rs2289274 (PMCA2), rs4880 (SOD2), rs7943316, and rs769214 within CAT that might associated with NIHL were further validated in Chinese workers. The results showed that the carriers of the T allele (AT+TT) of rs7943316 and A allele (GA+AA) of rs769214, were significantly associated with an increased risk of NIHL compared to those with AA genotype (P<0.05) and GG genotype (P<0.05). Moreover, a significant three-locus model (P=0.0107) involving rs2016520, rs9794, and rs1805192 were observed that might associated with NIHL, with 53.95% of testing accuracy. Thus, our present study provided the evidence that GJB2, SOD2, and CAT genes might account for the NIHL development in independently and/or in an interactive manner.

  9. The eQTL-missense polymorphisms of APOBEC3H are associated with lung cancer risk in a Han Chinese population

    PubMed Central

    Zhu, Meng; Wang, Yuzhuo; Wang, Cheng; Shen, Wei; Liu, Jia; Geng, Liguo; Cheng, Yang; Dai, Juncheng; Jin, Guangfu; Ma, Hongxia; Hu, Zhibin; Shen, Hongbing

    2015-01-01

    APOBEC (Apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like) enzymes may involve in mutagenic processes in multiple cancer types, including lung cancer. APOBEC family of cytidine deaminases induces base substitutions with a stringent TCW motif, which is widespread in multiple human cancers. We hypothesized that common missense variants in coding regions of APOBEC genes might damage the structure of proteins and modify lung cancer risk. To test this hypothesis, we systematically screened predicted deleterious polymorphisms in the exon regions of 10 APOBEC core genes (APOBEC1, APOBEC2, APOBEC3A, APOBEC3B, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, and APOBEC4) and evaluated them with a case-control study including 1200 cases and 1253 controls. We found that the T allele of rs139293 in exon 2 of APOBEC3H was significantly associated with decreased risk of lung cancer (odds ratio = 0.76, 95% confidence interval: 0.63–0.91). Similar inverse association of this variant was observed in subgroups. Further study showed that the T allele of rs139293 was associated with the altered expression of APOBEC3H and APOBEC3C and that the two genes were co-expressed in both tumor and adjacent normal tissues. These results indicate that genetic variants in APOBEC3H may contribute to lung cancer susceptibility in Chinese population. PMID:26459911

  10. Genome-Wide Linkage and Regional Association Study of Blood Pressure Response to the Cold Pressor Test in Han Chinese: The GenSalt Study

    PubMed Central

    Yang, Xueli; Gu, Dongfeng; He, Jiang; Hixson, James E.; Rao, Dabeeru C.; Lu, Fanghong; Mu, Jianjun; Jaquish, Cashell E.; Chen, Jing; Huang, Jianfeng; Shimmin, Lawrence C.; Rice, Treva K.; Chen, Jichun; Wu, Xigui; Liu, Depei; Kelly, Tanika N.

    2014-01-01

    Background Blood pressure (BP) response to cold pressor test (CPT) is associated with increased risk of cardiovascular disease. We performed a genome-wide linkage scan and regional association analysis to identify genetic determinants of BP response to CPT. Methods and Results A total of 1,961 Chinese participants completed the CPT. Multipoint quantitative trait linkage analysis was performed, followed by single-marker and gene-based analyses of variants in promising linkage regions (logarithm of odds, LOD ≥ 2). A suggestive linkage signal was identified for systolic BP (SBP) response to CPT at 20p13-20p12.3, with a maximum multipoint LOD score of 2.37. Based on regional association analysis with 1,351 SNPs in the linkage region, we found that marker rs2326373 at 20p13 was significantly associated with mean arterial pressure (MAP) responses to CPT (P = 8.8×10−6) after FDR adjustment for multiple comparisons. A similar trend was also observed for SBP response (P = 0.03) and DBP response (P = 4.6×10−5). Results of gene-based analyses showed that variants in genes MCM8 and SLC23A2 were associated with SBP response to CPT (P = 4.0×10−5 and 2.7×10−4, respectively), and variants in genes MCM8 and STK35 were associated with MAP response to CPT (P = 1.5×10−5 and 5.0×10−5, respectively). Conclusions Within a suggestive linkage region on chromosome 20, we identified a novel variant associated with BP responses to CPT. We also found gene-based associations of MCM8, SLC23A2 and STK35 in this region. Further work is warranted to confirm these findings. Clinical Trial Registration URL: http://www.clinicaltrials.gov; Unique identifier: NCT00721721. PMID:25028485

  11. The Impact of tagSNPs in CXCL16 Gene on the Risk of Myocardial Infarction in a Chinese Han Population

    PubMed Central

    Xu, Shun; Cheng, Jie; Cai, Meng-yun; Liang, Li-li; Cen, Jin-ming; Yang, Xi-li; Chen, Can

    2017-01-01

    CXCL16 has been demonstrated to be involved in the development of atherosclerosis and myocardial infarction (MI). Nonetheless, the role of the CXCL16 polymorphisms on MI pathogenesis is far to be elucidated. We herein genotyped four tagSNPs in CXCL16 gene (rs2304973, rs1050998, rs3744700, and rs8123) in 275 MI patients and 670 control subjects, aimed at probing into the impact of CXCL16 polymorphisms on individual susceptibility to MI. Multivariate logistic regression analysis showed that C allele (OR = 1.31, 95% CI = 1.03–1.66, and P = 0.029) and CC genotype (OR = 1.84, 95% CI = 1.11–3.06, and P = 0.018) of rs1050998 were associated with increased MI risk; and C allele (OR = 0.77, 95% CI = 0.60–0.98, and P = 0.036) of rs8123 exhibited decreased MI risk, while the other two tagSNPs had no significant effect. Consistently, the haplotype rs2304973T-rs1050998C-rs3744700G-rs8123A containing the C allele of rs1050998 and A allele of rs8123 exhibited elevated MI risk (OR = 1.41, 95% CI = 1.02–1.96, and P = 0.037). Further stratified analysis unveiled a more apparent association with MI risk among younger subjects (≤60 years old). Taken together, our results provided the first evidence that CXCL16 polymorphisms significantly impacted MI risk in Chinese subjects. PMID:28286356

  12. Leu125Val polymorphism of platelet endothelial cell adhesion molecule-1 is associated with atherosclerotic cerebral infarction in Chinese Han population.

    PubMed

    Song, Yanmin; Zhao, Ranran; Long, Lili; Zhang, Ning; Liu, Yunhai

    2014-01-01

    A total of 142 Atherosclerotic cerebral infarction (ACI) patients and 116 controls were enrolled in our study. The Leu125Val polymorphism of PECAM-1 was genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The plasma sPECAM-1 level was measured by enzyme-linked immunosorbent assay (ELISA) method. We found a statistically significant difference in Leu125Val genotypic distribution between cases and controls (P < 0.05). The frequencies of the Val allele between ACI group and controls were significantly different (P < 0.05). Logistic regression analysis showed that the genotype Val/Val was associated with increased ACI risk (OR = 2.355, 95% CI = 1.153-4.809, P = 0.019). In both the ACI group and the control group, the plasma PECAM-1 levels of carriers of the Val/Val genotype were higher than those carrying Leu/Leu and Leu/Val genotypes. The plasma sPECAM-1 level is associated with ACI. Our study showed that Leu125Val polymorphism of PECAM-1 may be associated with ACI risk. Carrying the Val/Val genotype showed increased risk for ACI. The Leu125Val polymorphism of PECAM-1 may be associated with the plasma sPECAM-1 level, which is associated with Chinese ACI also. In conclusions, The Leu125Val polymorphism of the PECAM-1 gene is likely to be related to ACI, and the Val/Val genotype may be an independent risk factor for ACI. The plasma sPECAM-1 level may be associated with ACI risk.

  13. Prediabetes Is Associated with HNF-4α P2 Promoter Polymorphism rs1884613: A Case-Control Study in Han Chinese Population and an Updated Meta-Analysis

    PubMed Central

    Wang, Changyi; Chen, Sihan; Zhang, Tao; Chen, Zhongwei; Liu, Shengyuan; Peng, Xiaolin; Ma, Jianping; Zhong, Xiaohong; Yan, Yanqiong; Tang, Linlin; Mai, Yifeng; Han, Liyuan

    2014-01-01

    Background. Controversy remains for the association between hepatocyte nuclear factor 4α (HNF-4α) P2 promoter polymorphism rs1884613 and type 2 diabetes (T2D). There was no association test of this polymorphism with prediabetes and T2D in the Chinese population. Moreover, an updated meta-analysis in various ethnic groups is needed to establish the contribution of rs1884613 to T2D risk. Methods. Using the Sequenom MassARRAY platform approach, we genotyped rs1884613 of HNF-4α in the P2 promoter region among 490 T2D patients, 471 individuals with prediabetes, and 575 healthy controls. All the individuals were recruited from 16 community health service centers in Nanshan district in Shenzhen province. Using STATA 11.0 software, meta-analysis was performed to summarize the overall contribution of rs1884613 to T2D risk. Results. Polymorphism rs1884613 was associated with genetic susceptibility to prediabetes in the whole samples (OR = 1.40, 95% CI = 1.16–1.68, P = 0.0001) and the female subgrouped samples (OR = 1.48, 95% CI = 1.14–1.92, P = 0.003) after adjusting for age and body mass index (BMI). In contrast, there was no association of rs1884613 with T2D in the whole samples and male in our case-control study and meta-analysis. Conclusions. Our results suggest that rs1884613 contributes to susceptibility to prediabetes, whereas this polymorphism may not play an important role in the development of T2D. PMID:25400315

  14. Association between x-ray repair cross-complementing group 3 (XRCC3) genetic polymorphisms and papillary thyroid cancer susceptibility in a Chinese Han population.

    PubMed

    Yuan, Kai; Huo, Meiling; Sun, Yong; Wu, Hongyan; Chen, Hongqiang; Wang, Yulong; Fu, Rongzhan

    2016-01-01

    Papillary thyroid cancer (PTC) is a predominant type of thyroid cancer. Ionizing radiation is the only well-established risk factor and may result in double-strand breaks. The x-ray repair cross-complementing group 3 (XRCC3) gene plays a vital role in DNA repair through homologous recombination. We aimed at investigating the association between XRCC3 genetic polymorphisms and PTC susceptibility. Eighty-three PTC patients and 367 controls in a Chinese population were enrolled in the study. Tag single-nucleotide polymorphisms (SNPs) were identified by HaploView 4.2 software. Genomic DNAs were isolated from peripheral blood samples by using TaqMan Blood DNA kits. The genotyping of XRCC3 SNPs was performed by TaqMan SNPs genotyping assay. Odds ratios (ORs) and corresponding 95 % confidence intervals (CIs) were calculated to evaluate the association between XRCC3 SNPs and PTC susceptibility. The statistical analyses were conducted by using SPSS 13.0 software. Four tag-SNPs were initially identified by HaploView 4.2 software. Only one SNP (rs861539) was shown to be significantly associated with increased risk of PTC. There was a significant difference in smoking and drinking status between PTC cases and controls. And the stratified analysis suggested that the polymorphisms of rs861539 in XRCC3 were correlated with PTC risk in the four subgroups of smokers (ex-smokers included), non-smokers, drinkers (ex-drinkers included), and non-drinkers. The meta-analysis showed that only two studies reported a significant association between XRCC3 polymorphisms and PTC risk. In this study, we find a significant association between rs861539 polymorphisms and PTC susceptibility. However, there were inconsistent results in previous published studies. Therefore, further studies in a large population are required to gain insights into the PTC risk conferred by XRCC3 SNPs.

  15. Typing of killer-cell immunoglobulin-like receptors and their cognate human leukocyte antigen class I ligands predicts survival of Chinese Han patients with metastatic non-small-cell lung cancer

    PubMed Central

    Yu, Hui; Liu, Fang; Sansas, Benoit; Kang, Bin; Preville, Xavier; Wu, Xianghua; Chang, Jianhua; Micol, Romain; Wang, Jialei; Meng, Xia

    2017-01-01

    Non-small-cell lung cancer (NSCLC) may establish an immunosuppressive tumor microenvironment that is conducive to tumor growth. Natural killer (NK) cells play a pivotal role in immunological surveillance. Activation of NK cells partially depends on the interactions between killer-cell immunoglobulin-like receptors (KIRs) and human leukocyte antigen (HLA) class I ligands. We herein investigated the association of KIRs and HLA ligands with survival in metastatic NSCLC (mNSCLC) patients treated with chemotherapy in a Chinese Han population. Polymerase chain reaction with sequence-specific primers was used to type 15 KIRs at the DNA and mRNA level and 6 HLA ligands in 70 mNSCLC patients. Survival curves were estimated using the Kaplan-Meier method and compared with the log-rank test. Cox proportional hazard regression model was applied for multivariate survival analysis, with the stepwise selection, to determine independent predictors of survival. It was observed that patients with KIR2DS4del gene expression at the mRNA level or HLA-Bw4T80 exhibited poor overall survival (OS). The multivariate analysis revealed that HLA-Bw4T80 and KIR2DS4del expression were independent predictors of OS. This observation indicated that the KIR/HLA ligand is a promising predictor of survival in mNSCLC and may also provide a strategy for treatment stratification and patient management.

  16. Sex-specific association of brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and plasma BDNF with attention-deficit/hyperactivity disorder in a drug-naïve Han Chinese sample.

    PubMed

    Li, Haimei; Liu, Lu; Tang, Yilang; Ji, Ning; Yang, Li; Qian, Qiujin; Wang, Yufeng

    2014-07-30

    A functional polymorphism of the brain derived neurotrophic factor gene (BDNF) (Val66Met) has been suggested to be involved in the pathogenesis of attention-deficit/hyperactivity disorder (ADHD). It also has an impact on peripheral BDNF levels in psychiatric disorders. This study examined the association of Val66Met with plasma BDNF level of ADHD in Han Chinese children (170 medication - naïve ADHD patients and 155 unaffected controls, aged 6-16 years). The Val allele was showed a higher frequency in females with ADHD (n=84) than controls (P=0.029) from the case-control association study. The analysis of covariance (ANCOVA) indicated that the mean plasma BDNF levels of ADHD patients were significantly higher than that of controls (P=0.001). We performed both total sample and sex stratified analyses to investigate the effect of Val66Met genotype on the plasma BDNF levels, but only a trend of association was found in females with ADHD (n=84), with a tendency of lower plasma BDNF level in Val allele carriers than Met/Met genotype carriers (P=0.071). Our results suggested a sex-specific association between BDNF and ADHD. Furthermore, there was a possible sex-specific relationship between the BDNF Val66Met genotype and plasma BDNF levels. However, further studies are required to elucidate the role of BDNF in ADHD.

  17. The Ratio of Second to Fourth Digit Length (2D:4D) and Coronary Artery Disease in a Han Chinese Population

    PubMed Central

    Wu, Xing-li; Yang, Ding-you; Chai, Wen-hui; Jin, Ming-lei; Zhou, Xing-chun; Peng, Li; Zhao, Yu-sheng

    2013-01-01

    Background: The association between index finger to ring finger length ratio (2D:4D) and cardiac disorders has been reported, however it has not been discussed in terms of coronary artery disease (CAD). We investigated whether 2D:4D could be used as a marker for predisposition to CAD as assessed by coronary angiography in Chinese men and women. Methods: This study included 1764 persons divided into 4 groups, 441 cases with CAD and 441 persons without CAD as control in each sex of the same age. Finger lengths were measured twice for both hands using electronic calipers. Student t test was used to detect the difference of 2D:4D among groups. The receiver operator characteristic curves (ROCs) were used to detect the diagnostic effect of 2D:4D for CAD. Results: There were no significant differences in age among the four groups. A significant difference of 2D:4D ratios between right and left hand were observed only in men in both control and CAD groups. On the right hand in the control group and on both hands in the CAD group, the 2D:4D ratios were higher in women than in men (all, P < 0.001). In men with CAD, mean 2D:4D was higher than mean 2D:4D in control men (right hand 0.962±0.042:0.927±0.038; left hand 0.950±0.044:0.934±0.048; both hands, P < 0.001), but this was not observed in women. No relationship was found between 2D:4D and age (all, P >0.05). The area under the curve of right hand 2D:4D in male was 0.72 (95% CI 0.683-0.753, p<0.001), while it was 0.602 (95% CI 0.565-0.639, p<0.001) in left hand. Conclusions: The present study showed an association between high 2D:4D ratio and CAD in both hands in men. There were no significant differences in mean 2D:4D between women with CAD and controls. PMID:24046536

  18. The rs5934505 single nucleotide polymorphism (SNP) is associated with low testosterone and late-onset hypogonadism, but the rs10822184 SNP is associated with overweight and obesity in a Chinese Han population: a case-control study.

    PubMed

    Chen, Y-P; Nie, L-L; Li, H-G; Liu, T-H; Fang, F; Zhao, K; Yang, R-F; Ma, X-L; Kong, X-B; Zhang, H-P; Guan, H-T; Xia, W; Hong, W-X; Duan, S; Zeng, X-C; Shang, X-J; Zhou, Y-Z; Gu, Y-Q; Wu, W-X; Xiong, C-L

    2016-01-01

    Low testosterone is associated with late-onset hypogonadism (LOH) and obesity. Recently, studies have shown that four single nucleotide polymorphisms (SNPs), rs12150660, rs727428, rs5934505, and rs10822184, are associated with testosterone levels in populations of European descent. Therefore, we investigated whether the SNP loci are related to low testosterone, LOH, or obesity in a Chinese Han population. Ruling out co-morbidities, DNA was prepared from 409 men (aged 40-65 years) with low serum testosterone (defined as total testosterone <11.6 nmol/L) and 1 : 1 normal controls (matched age, body mass index (BMI), and the same living area) who were selected from 6898 males. According to the same standards, 310 men with LOH and 1 : 1 normal controls were selected from 6898 males. Excluding the cases with an unreliable sequencing result, genetic analyses were performed. The minor allele frequencies of the SNP loci rs12150660, rs727428, rs5934505, and rs10822184 were 0.1%, 44.6%, 18.7%, and 38.9%, respectively. rs5934505 was associated with the serum total testosterone and calculated free testosterone (CFT) levels (p = 0.045 and p = 0.021). rs5934505 (C>T) was associated with an increased risk of low total testosterone, low CFT, and LOH and adjusted for other factors, with an odds ratio (OR) of 2.01 (1.34-3.01), 2.14 (1.42-3.20), and 1.64 (1.04-2.58). rs10822184 was significantly correlated with weight and BMI (p = 0.035 and p = 0.027). rs10822184 (T>C) was associated with an increased risk of overweight and obesity. We adjusted for other factors, with odds ratios (ORs) of 1.94 (1.36-2.78) and 1.56 (1.00-2.43). In summary, our study provided convincing evidence that rs5934505 (C>T) was associated with the risk of low testosterone and LOH in Chinese populations. We were the first to find that rs10822184 (T>C) was significantly correlated with the risk of overweight and obesity in Chinese populations. However, further large and functional studies are warranted to confirm

  19. Mitochondrial COX2 G7598A mutation may have a modifying role in the phenotypic manifestation of aminoglycoside antibiotic-induced deafness associated with 12S rRNA A1555G mutation in a Han Chinese pedigree.

    PubMed

    Chen, Tianbin; Liu, Qicai; Jiang, Ling; Liu, Can; Ou, Qishui

    2013-02-01

    , in the AmAn-induced deafness and NSHL associated with 12S rRNA A1555G mutation in the Han Chinese pedigree.

  20. Little Hans: masculinity foretold.

    PubMed

    Corbett, Ken

    2009-07-01

    Joining the centennial reexamination of Freud's "Analysis of a Phobia in a Five-Year-Old Boy" (I909a), the author returns to Little Hans as the Ur psychoanalytic boy. Hans's construction and acts of consciousness continue to endow the psychoanalytic construct of masculinity with meaning. It is suggested that Freud moved in his discussion of the case to regulate the unsettled conditions of masculinity that he articulated through his clinical observations of Hans. The case is viewed as an exemplary illustration of how masculinity is foretold--a normative narrative that has changed little in the last 100 years. The author offers a contemporary view of masculinity as a dilemma of boundary--neither fully interior nor fully exterior, neither fully fantastic nor fully socially constructed.

  1. Identification of sociodemographic and clinical factors associated with the levels of human β-defensin-1 and human β-defensin-2 in the human milk of Han Chinese.

    PubMed

    Wang, Xiao-Fang; Cao, Rui-Ming; Li, Jing; Wu, Jing; Wu, Sheng-Mei; Chen, Tong-Xin

    2014-03-14

    Human milk provides infants with various immune molecules. The objective of the present study was to measure human β-defensin-1 (hBD-1) and human β-defensin-2 (hBD-2) levels in the colostrum and mature milk of healthy Han Chinese, to identify factors regulating milk hBD-1 and hBD-2 expression and to explore the potential protective effect of milk hBD-1 and hBD-2 on infants. A total of 100 mothers and their babies were recruited into the study. Sociodemographic characteristics and other factors were obtained by a questionnaire. Babies were followed up for a period of 6 months. Colostrum samples (n 100) and mature milk samples (n 82) were collected by hand expression. The hBD-1 and hBD-2 concentrations were measured by ELISA. The hBD-1 and hBD-2 levels differed in the colostrum and mature milk. In the colostrum, the concentration ranges of hBD-1 and hBD-2 were 1·04-12·81 μg/ml and 0·31-19·12 ng/ml, respectively. In mature milk, the hBD-1 and hBD-2 levels were 1·03-31·76 ng/ml and 52·65-182·29 pg/ml, respectively. Several independent factors influence their production. The multivariable analysis showed a strong association between pre-pregnancy BMI and hBD-1 levels in the colostrum (P=0·001), mode of delivery was significantly associated with hBD-2 levels in the colostrum (P=0·006) and gestational age was significantly associated with hBD-1 levels in mature milk (P= 0·010). During the first 6 months of life, the incidence rate of upper respiratory infection was found to be less in the high-colostrum hBD-1 group than in the low-colostrum hBD-1 group (χ²=4·995, P=0·025). The present study suggested that the abundance of hBD-1 in the colostrum may have a protective function against upper respiratory infection for infants younger than 6 months.

  2. Hans Bethe's early life

    NASA Astrophysics Data System (ADS)

    Bernstein, Jeremy

    2012-10-01

    In 1937, two years after he moved to the US to escape Nazi persecution, the physicist Hans Bethe sent a letter to his mother in Germany. In it, he wrote, "I think I am about the leading theoretician in America. [Eugene] Wigner is certainly better and [Robert] Oppenheimer and [Edward] Teller probably just as good. But I do more and talk more and that counts too."

  3. Growth of Han migrants at high altitude in central Asia.

    PubMed

    Weitz, Charles A; Garruto, Ralph M

    2004-01-01

    Han Chinese of low-altitude descent have been living in Qinghai Province of Western China for at least two millennia. For most of this time they have lived at elevations under 2,500 m. However, during the last four decades an increasing number of Han have moved into high-altitude towns at elevations over 3,000 m, and some above 4,000 m. There are now sufficient numbers of Han descendants who have been born and raised at high altitude to allow a comparison of their morphological and physiological growth patterns with low-altitude Han to detect the effect of hypoxia. The field study reported here was conducted by collaborating Chinese and American researchers over a 6-year period, and included 1,227 Han living at high altitude in Qinghai and at low altitude near Beijing. This study demonstrates that Han born and raised at high altitude are smaller and lighter than those at low altitude-particularly as children and adolescents. Slower growth at high altitude may be a consequence of hypoxia, but it also corresponds to poorer economic conditions in rural Qinghai Province, and thus may reflect nutritional inadequacies. Differences in altitude and/or nutrition do not seem to affect thorax dimensions, since, relative to stature, chest dimensions are similar at both high and low altitudes. Nevertheless, lung volumes are higher among Han at high altitude, possibly reflecting the influence of hypoxia on alveolar growth. The hematological values of Han growing up at 3,200 m are not different from those at low altitude-an unusual finding relative to other low-altitude groups that may reflect population differences in response to hypoxia. At 3,800 m and 4,300 m, however, Han show elevated hemoglobin relative to Han at low altitude.

  4. In Memoriam: Hans Bethe

    NASA Astrophysics Data System (ADS)

    Garwin, Richard L.; Von Hippel, Frank

    Hans Bethe, who died on March 6 at the age of 98, was exemplary as a scientist; a citizen-advocate seeking to stem the arms race; and an individual of warmth, generosity, tenacity, and modest habits. Bethe made major contributions to several areas of physics during his academic career. He earned a Nobel Prize in 1967 for his research into how the sun generates its energy by converting hydrogen to helium using carbon as a nuclear catalyst. A few years later, he made central contributions to the secret US World War II nuclear-weapon development programs (the "Manhattan Project").

  5. Is International Accounting Education Delivering Pedagogical Value?

    ERIC Educational Resources Information Center

    Patel, Chris; Millanta, Brian; Tweedie, Dale

    2016-01-01

    This paper examines whether universities are delivering pedagogical value to international accounting students commensurate with the costs of studying abroad. The paper uses survey and interview methods to explore the extent to which Chinese Learners (CLs) in an Australian postgraduate accounting subject have distinct learning needs. The paper…

  6. Retraction RETRACTION of "Tumor necrosis factor alpha gene -308G>A polymorphism association with the risk of esophageal cancer in a Han Chinese population" by H. Zhao, H.W. Zhang, T. Zhang and X.M. Gu - Genet. Mol. Res. 15 (2): gmr.15025866 DOI: http://dx.doi.org/10.4238/gmr.15025866.

    PubMed

    Zhao, H; Zhang, H W; Zhang, T; Gu, X M

    2016-10-07

    The retracted article is: Zhao H, Zhang HW, Zhang T and Gu XM (2016). Tumor necrosis factor alpha gene -308G>A polymorphism association with the risk of esophageal cancer in a Han Chinese population. Genet. Mol. Res. 15: gmr.15025866. Two major concerns were found in this article. Firstly, it was found to be substantially equal to the article "Tumor necrosis factor-alpha gene -308G > A polymorphism alters the risk of hepatocellular carcinoma in a Han Chinese population" published in the Diagnostic Pathology Diagnostic Pathology (2014) 9: 199, by Feng et al.; licensee BioMed Central. 2014 - DOI: 10.1186/s13000-014-0199-3. Secondly, the authors do not discuss limitations of their approaches in the discussion. The discussion is largely an elaboration of the literature in the introduction part. However, even in that context, the discussion does not appropriately review the literature and there are frequent references to conclusions that are not supported by the cited literature. The GMR editorial staff was alerted and after a thorough investigation, there is strong reason to believe that the peer review process was failure. Also, after review and contacting the authors, the editors of Genetics and Molecular Research decided to retract this article in accordance with the recommendations of the Committee on Publication Ethics (COPE). The authors and their institutions were advised of this serious breach of ethics.

  7. Metallochaperones: bind and deliver

    SciTech Connect

    Rosenzweig, A.C.

    2010-03-08

    Metallochaperones deliver metal ions directly to target proteins via specific protein-protein interactions. Recent research has led to a molecular picture of how some metallochaperones bind metal ions, recognize their partner proteins, and accomplish metal ion transfer.

  8. Can solar power deliver?

    PubMed

    Nelson, Jenny; Emmott, Christopher J M

    2013-08-13

    Solar power represents a vast resource which could, in principle, meet the world's needs for clean power generation. Recent growth in the use of photovoltaic (PV) technology has demonstrated the potential of solar power to deliver on a large scale. Whilst the dominant PV technology is based on crystalline silicon, a wide variety of alternative PV materials and device concepts have been explored in an attempt to decrease the cost of the photovoltaic electricity. This article explores the potential for such emerging technologies to deliver cost reductions, scalability of manufacture, rapid carbon mitigation and new science in order to accelerate the uptake of solar power technologies.

  9. The Hazard Notification System (HANS)

    NASA Astrophysics Data System (ADS)

    Snedigar, S. F.; Venezky, D. Y.

    2009-12-01

    The Volcano Hazards Program (VHP) has developed a Hazard Notification System (HANS) for distributing volcanic activity information collected by scientists to airlines, emergency services, and the general public. In the past year, data from HANS have been used by airlines to make decisions about diverting or canceling flights during the eruption of Mount Redoubt. HANS was developed to provide a single system that each of the five U.S. volcano observatories could use for communicating and storing volcanic information about the 160+ potentially active U.S. volcanoes. The data that cover ten tables and nearly 100 fields are now stored in similar formats, and the information can be released in styles requested by our agency partners, such as the International Civil Aviation Organization (ICAO). Currently, HANS has about 4500 reports stored; on average, two - three reports are added daily. HANS (at its most basic form) consists of a user interface for entering data into one of many release types (Daily Status Reports, Weekly Updates, Volcano Activity Notifications, etc.); a database holding previous releases as well as observatory information such as email address lists and volcano boilerplates; and a transmission system for formatting releases and sending them out by email or other web related system. The user interface to HANS is completely web based, providing access to our observatory scientists from any online PC. The underlying database stores the observatory information and drives the observatory and program websites' dynamic updates and archived information releases. HANS also runs scripts for generating several different feeds including the program home page Volcano Status Map. Each observatory has the capability of running an instance of HANS. There are currently three instances of HANS and each instance is synchronized to all other instances using a master-slave environment. Information can be entered on any node; slave nodes transmit data to the master node

  10. Association of Topoisomerase II (TOP2A) and Dual-Specificity Phosphatase 6 (DUSP6) Single Nucleotide Polymorphisms with Radiation Treatment Response and Prognosis of Lung Cancer in Han Chinese

    PubMed Central

    Wang, Tian-Lu; Ren, Yang-Wu; Wang, He-Tong; Yu, Hong; Zhao, Yu-Xia

    2017-01-01

    Background Mutations of DNA topoisomerase II (TOP2A) are associated with chemotherapy resistance, whereas dual-specificity phosphatase 6 (DUSP6) negatively regulates members of the mitogen-activated protein (MAP) kinase superfamily to control cell proliferation. This study assessed TOP2A and DUSP6 single nucleotide polymorphisms (SNPs) in non-small cell lung cancer (NSCLC) patients for association with chemoradiotherapy responses and prognosis. Material/Methods A total of 140 Chinese patients with histologically confirmed NSCLC were enrolled and subjected to genotyping of TOP2A rs471692 and DUSP6 rs2279574 using Taqman PCR. An independent sample t test was used to analyze differences in tumor regression after radiotherapy versus SNP risk factors. Kaplan-Meier curves analyzed overall survival, followed by the log-rank test and Cox proportional hazard models. Results There were no significant associations of TOP2A rs471692 and DUSP6 rs2279574 polymorphisms or clinicopathological variables with response to chemoradiotherapy (p>0.05). Comparing overall survival of 87 patients with stage I–III NSCLC treated with radiotherapy or chemoradiotherapy to clinicopathological variables, the data showed that tumor regression, weight loss, clinical stage, and cigarette smoking were independent prognostic predictors (p=0.009, 0.043, 0.004, and 0.025, respectively). Tumor regression rate >0.34 was associated with patent survival versus tumor regression rate ≤0.34 (p=0.007). Conclusions TOP2A rs471692 and DUSP6 rs2279574 SNPs were not associated with chemoradiotherapy response, whereas tumor regression, weight loss, clinical stage, and cigarette smoking were independent prognostic predictors for these Chinese patients with NSCLC. PMID:28231233

  11. "Our Good Han Mothers": Observations from the Xinjiang Class at the Qingshan Superior Secondary School of Wuxi Municipality, Jiangsu Province

    ERIC Educational Resources Information Center

    Tao, Jiaqing; Yang, Xiaohu

    2010-01-01

    Instrumental to the successful running of the Xinjiang Classes are its teachers, many of whom are Han Chinese. This article explores the important roles teachers of the Xinjiang Class play in the lives of Xinjiang Class students inside and outside of the classroom. From homesickness, to hygiene, to scholastic endeavors, Han teacher-mothers…

  12. On the Reliability of Han Dynasty Solar Eclipse Records

    NASA Astrophysics Data System (ADS)

    Pankenier, David W.

    2012-11-01

    The veracity of early Chinese records of astronomical observations has been questioned, principally based on two early studies from the 1950s, which suggested that political motives may have led scholar-officials at court to fabricate astral omens. Here I revisit the Han Dynasty (206 BCE-220 CE) solar eclipse reports to determine whether the charge has merit for those first four centuries of the imperial period. All 127 dated solar eclipses reported in the official sources are checked for accuracy against the "Five Millennium Catalog of Solar Eclipses" produced by Espenak and Meeus (2009). The Han Dynasty records prove remarkably accurate. Copyists' errors do occur, but there are only rare instances of totally erroneous reports, none of which is provably the result of politically-motivated manipulation.

  13. Supporting Chinese Speaking Skills Online

    ERIC Educational Resources Information Center

    Stickler, Ursula; Shi, Lijing

    2013-01-01

    Chinese is considered a difficult language to learn by most Western learners, yet recently more and more people are learning Chinese, and increasingly teaching is delivered online. Due to the nature of Chinese and the complexity of online learning, research has not yet produced sufficient information on students' and teachers' interaction during…

  14. Helping HAN for hybrid rockets

    NASA Astrophysics Data System (ADS)

    Ramohalli, Kumar; Dowler, Warren

    1995-01-01

    Hydroxyl amine nitrate (HAN) is a powerful oxidizer for hybrid rocket flight motors. Miscible with water up to 95% by mass, it also has high density and has been extensively characterized for materials compatibility, safety, transportation, storage and handling. Before any serious attempt to use the proposed oxidizer in hybrids, though, the usual performance figures must first be obtained. The simplest are time-independent, equilibrium rocket performance numbers that include chamber temperature, temperature at the nozzle throat, and key species in the exhaust. These numbers must be followed by several other important performance evaluation, including burning rates, pressure dependence, susceptibility to instabilities and temperature sensitivity.

  15. Effects of SNPs (CYP1B1*2 G355T, CYP1B1*3 C4326G, and CYP2E1*5 G-1293C), Smoking, and Drinking on Susceptibility to Laryngeal Cancer among Han Chinese

    PubMed Central

    Jin, Jianhua; Lin, Faming; Liao, Shiyu; Bao, Qiyu; Ni, Liyan

    2014-01-01

    Purpose This study was conducted to explore the effects of genetic polymorphisms (CYP1B1*2 G355T, CYP1B1*3 C4326G, and CYP2E1*5 G-1293C) and environmental factors (smoking and drinking) on susceptibility to laryngeal cancer in a Han Chinese study group. Methods This case-control study included 552 Han Chinese patients diagnosed with laryngeal cancer and 666 healthy control subjects of the same ethnicity, similar age, and gender. Genetic polymorphisms were examined using multi-PCR and Matrix Assisted Laser Desorption Ionization - Time of Flight (MALDI-TOF MS) methodology. The association of these genetic and environmental factors with susceptibility to laryngeal cancer was evaluated using a statistical approach. Results The frequencies of all three polymorphisms in the patient cohort were significantly different from those in the control cohort. Compared to the control cohort, carriers of variant alleles of CYP1B1*2 355T and CYP2E1*5 -1293C showed a higher risk for developing laryngeal cancer (for CYP1B1*2 355T, adjusted OR = 2.657, P <0.001; for CYP2E1*5 -1293C, adjusted OR = 1.938, P <0.001), while carriers of mutation allele CYP1B1*3 4326G showed a lower risk (adjusted OR = 0.562, P <0.001). Joint effects of these polymorphisms were observed. When compared to haplotype G355C4326G−1293, haplotypes T355C4326G−1293 (adjusted OR = 1.809, P <0.001), G355C4326C−1293 (adjusted OR = 1.644, P = 0.044), and T355C4326C−1293 (adjusted OR = 3.104, P <0.001) were associated with a significantly higher laryngeal cancer risk. The adjusted ORs for non-smokers, non-drinkers, smokers, and drinkers with the GT/TT genotype at CYP1B1*2 G355T were 2.190 (P = 0.006), 2.008 (P = 0.001), 5.875 (P <0.001), and 4.518 (P <0.001), respectively. Conclusions CYP1B1*2 355T and CYP2E1*5 -1293C are associated with an increased laryngeal cancer risk, while CYP1B1*3 4326G is associated with a decreased risk. These polymorphisms showed joint effects on

  16. Building Empire through Argumentation: Debating Salt and Iron in Western Han China

    ERIC Educational Resources Information Center

    You, Xiaoye

    2010-01-01

    The history of American imperialism, as well as China's strong presence on the contemporary global scene, should encourage American scholars of rhetoric to look beyond the nation-state and study other rhetorical traditions such as Chinese practices of argument. A debate during the Western Han dynasty over the country's economic policies…

  17. Adolescent Self-Concept among Han, Mongolian, and Korean Chinese.

    ERIC Educational Resources Information Center

    Sharpes, Donald K.; Wang, Xinbing

    1997-01-01

    Examines self-concept, assuming it to be genetic in origin and that adolescents' perception of personal, relational, and academic self-identity occurs uniformly across cultures. Results indicate a high similarity between the majority and minority adolescents, suggesting developmental propensities in self-concept formation. Environment seemed…

  18. Hans Loewald: a radical conservative.

    PubMed

    Whitebook, Joel

    2004-02-01

    Hans Loewald's work was relatively marginalized in its day and it is little known outside the United States. It is, however, assuming increasing importance in American psychoanalysis. Loewald's attractiveness as a theoretician is due, in no small part, to his rigor and synthetic reach. He is able to accomplish the difficult feat of remaining non-sectarian and systematic at the same time. Indeed, Loewald's work contains an integrative vision that is unusual in today's fragmented psychoanalytic world. This author tries to show how Loewald attempts to reconcile many of the rigid oppositions that often become reified in analytic controversies: structural theory versus relational psychoanalysis, traditionalism versus revisionism, oedipal versus pre-oedipal, modernist versus postmodernist and hermeneutical versus scientific. The article examines how Eros, understood in terms of the psyche's synthetic strivings, plays a major role in Loewald's theory. The author also situates Loewald's position within contemporary psychoanalytic discussions of epistemology. These discussions tend to criticize the objectivism of modern science-and analysis in so far as it models itself on science-and stress countertransference and the subjectivity of the analyst. Loewald's argument, however, runs in the opposite direction. Because of his concern with the autonomy and individuality of the patient, he is concerned with the clinical dangers rising from an overemphasis on the subjectivity of the analyst.

  19. Genetic analysis of 17 Y-STR loci in Han and Korean populations from Jilin Province, Northeast China.

    PubMed

    Han, Yinan; Li, Liming; Liu, Xiaoyang; Chen, Wenqing; Yang, Shuping; Wei, Lanhai; Xia, Mingying; Ma, Teng; Jin, Li; Li, Shilin

    2016-05-01

    In this study, 17 Y chromosomal short tandem repeats (Y-STRs) were analyzed in 302 male individuals from the Chinese Han and Korean populations of Jilin Province. The haplotype diversities of two populations reached 0.99969 and 0.99874, respectively. The Jilin Han and Korean populations differed from each other significantly. The Jilin Han population showed no significant difference from almost any other Han population, but it did show significant differences from most other Chinese ethnic populations. The haplotype frequencies in the Jilin Korean population studied here showed significant differences from all reference populations in earlier reports. These data provide a reference for the Y-STR database in Jilin Province, and they may be valuable for population genetic analysis.

  20. The Dramatic Methods of Hans van Dam.

    ERIC Educational Resources Information Center

    van de Water, Manon

    1994-01-01

    Interprets for the American reader the untranslated dramatic methods of Hans van Dam, a leading drama theorist in the Netherlands. Discusses the functions of drama as a method, closed dramatic methods, open dramatic methods, and applying van Dam's methods. (SR)

  1. Research on the Solar Eclipse Records in the Wuxingzhi of Both {Han} Dynasties

    NASA Astrophysics Data System (ADS)

    Li, Y.

    2015-09-01

    In this paper, we investigate the paper Lianghan Rishi Kao (inspect the solar-eclipse records in Both {Han} dynasties) written by {Zhu Wenxin} when compared the solar-eclipse records with those in the book Zhongguo Gudai Tianxiang Jilu Zong ji (collection of Chinese ancient astronomical records), and find 38 (61) records with the same dates in Western (Eastern) {Han} dynasty, equal to 70% (85%) of total. Our results have 42 (61) with the same dates in Western (Eastern) {Han} dynasty as just 78% (85%) of the total. There are totally 126 solar-eclipse records in the Wuxingzhi of both {Han} Dynasties. We confirm that there are 21 no occurred, 7 invisible in the capital then, 9 occurred before sunrise, 1 after sunset, and the left 88 are seen, occupying 70% as usually occurred in the capital area. With the help of our transformation platform as from Chinese ancient 60-day-cycle style dates to Gregorian calendar dates, we check the date records of solar eclipses in the Wuxingzhi of both {Han} dynasties, and then review the accuracy of the calendar. The standard errors of month and day are respectively 0.31 month (0.17 month) and 0.97 day (0.74 day) in the Western (Eastern) {Han} dynasty. At the same time, the standard errors of solar location of the records are determined, they are 11.08° (6.63°) in Western (Eastern) {Han} dynasty, and after excluding the possible misrecords the accuracy changes to 9.30° (3.59°). If the Juxing (key star of this constellation) was the same in both {Han} dynasties, the average value of observation error of solar location in Eastern {Han} dynasty is 2.8°, far better than 8.2° in Western {Han} dynasty. Otherwise, they most likely appear in some constellations with larger deviation. We try to determine the Δ T (ET-UT) value of solar-eclipse records with the magnitude descriptions, and at the same time, it is concluded that the magnitude of Ji (total eclipse) is 0.969-1.0, Jijin (the sun is covered almost all) is 0.829-0.985, and

  2. 3. Photocopy of postcard showing watercolor depiction of the Hans ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    3. Photocopy of postcard showing watercolor depiction of the Hans Herr House by C.X. Carlson, as it appeared in the book, Old Lancaster - Hans Herr House, 1851 Hans Herr Drive, West Lampeter Township, Willow Street, Lancaster County, PA

  3. Gender and Ethnic Variation in Arranged Marriages in a Chinese City

    ERIC Educational Resources Information Center

    Zang, Xiaowei

    2008-01-01

    Using a data set (N = 1,600) collected in the city of Urumchi in 2005, this article examines ethnic differences in arranged marriages in urban China. Data analysis shows a rapid decline in parental arrangement for both Uyghur Muslims and Han Chinese in Urumchi. Han Chinese are less likely than Uyghur Muslims to report arranged marriages, with main…

  4. The “Clever Hans Phenomenon” revisited

    PubMed Central

    Samhita, Laasya; Gross, Hans J

    2013-01-01

    In the first decade of the 20th century, a horse named Hans drew worldwide attention in Berlin as the first and most famous “speaking” and thinking animal. Hans solved calculations by tapping numbers or letters with his hoof in order to answer questions. Later on, it turned out that the horse was able to give the correct answer by reading the microscopic signals in the face of the questioning person. This observation caused a revolution and as a consequence, experimenters avoided strictly any face-to-face contact in studies about cognitive abilities of animals—a fundamental lesson that is still not applied rigorously. PMID:24563716

  5. The Unified Phonetic Transcription for Teaching and Learning Chinese Languages

    ERIC Educational Resources Information Center

    Shieh, Jiann-Cherng

    2011-01-01

    In order to preserve distinctive cultures, people anxiously figure out writing systems of their languages as recording tools. Mandarin, Taiwanese and Hakka languages are three major and the most popular dialects of Han languages spoken in Chinese society. Their writing systems are all in Han characters. Various and independent phonetic…

  6. Hans Eysenck (1916-1997): A Tribute.

    ERIC Educational Resources Information Center

    Sternberg, Robert J.

    1997-01-01

    Hans Eysenck, who died in September 1997, was one of the most well-known psychologists in the world. A believer that intelligence is genetically controlled, Eysenck recognized the need for scientific investigation in the study of intelligence and creativity. He was characterized by extraordinary creativity and commitment to his scientific message.…

  7. HAN-Based Monopropellant Technology Development

    NASA Technical Reports Server (NTRS)

    Reed, Brian

    2002-01-01

    NASA Glenn Research Center is sponsoring efforts to develop technology for high-performance, high-density, low-freezing point, low-hazards monopropellant systems. The program is focused on a family of monopropellant formulations composed of an aqueous solution of hydroxylammonium nitrate (HAN) and a fuel component. HAN-based monopropellants offer significant mass and volume savings to small (less than 100 kg) satellite for orbit raising and on-orbit propulsion applications. The low-hazards characteristics of HAN-based monopropellants make them attractive for applications where ground processing costs are a significant concern. A 1-lbf thruster has been demonstrated to a 20-kg satellite orbit insertion duty cycle, using a formulation compatible with currently available catalysts. To achieve specific impulse levels above those of hydrazine, catalyst materials that can withstand the high-temperature, corrosive combustion environment of HAN-based monopropellants have to be developed. There also needs to be work done to characterize propellant properties, burning behavior, and material compatibility. NASA is coordinating their monopropellant efforts with those of the United States Air Force.

  8. Population data of 17 short tandem repeat loci in 2923 individuals from the Han population of Nantong in East China.

    PubMed

    Yang, Min; Li, Liming; Han, Haijun; Jin, Li; Jia, Dongtao; Li, Shilin

    2016-09-01

    Nantong is located in mid-eastern China, and the Han population in Nantong may be greatly affected by population admixture between northern and southern Han Chinese populations. In this study, we analyzed 17 autosomal short tandem repeat (STR) loci on 2923 unrelated individuals collected from the Han population of Nantong. No significant deviation from Hardy-Weinberg equilibrium was observed at all STR loci, and the expected heterozygosity ranged from 0.6184 to 0.9187. The combined match probability (CMP) was 3.87 × 10(-21), and the combined power of discrimination (CPD) was 99.999999999999999999613 %. No significant difference of allele frequencies was observed between Nantong and other Han populations at all STR loci, as well as Dai, Mongolian, and Tibetan. Significant differences were only observed between Nantong Han and Uyghur at TH01, as well as Nantong Han and Dong at CSF1PO and FGA. Nantong Han showed significant differences between She, Bouyei, and Miao at multiple STR loci.

  9. An interview with Mark G. Hans

    PubMed Central

    Bolognese, Ana Maria; Palomo, Juan Martin; Miyashita, Kunihiko; Nojima, Lincoln Issamu; Nojima, Matilde da Cunha Gonçalves

    2014-01-01

    It is a great honor to conduct an interview with Professor Mark G. Hans, after following his outstanding work ahead of the Bolton-Brush Growth Study Center and the Department of Orthodontics at the prestigious Case Western Reserve School of Dental Medicine (CWRU) in Cleveland, Ohio. Born in Berea, Ohio, Professor Mark Hans attended Yale University in New Haven, CT, and earned his Bachelor of Science Degree in Chemistry. Upon graduation, Dr. Hans received his DDS and Masters Degree of Science in Dentistry with specialty certification in Orthodontics at Case Western Reserve University. During his education, Dr. Hans' Master's Thesis won the Harry Sicher Award for Best Research by an Orthodontic Student and being granted a Presidential Teaching Fellowship. As one of the youngest doctors ever certified by the American Board of Orthodontics, Dr. Hans continues to maintain his board certification. He has worked through academics on a variety of research interests, that includes the demographics of orthodontic practice, digital radiographic data, dental and craniofacial genetics, as obstructive sleep apnea syndrome, with selected publications in these fields. One of his noteworthy contributions to the orthodontic literature came along with Dr. Donald Enlow on the pages of "Essentials of Facial Growth", being reference on the study of craniofacial growth and development. Dr. Mark Hans's academic career is linked to CWRU, recognized as the renowned birthplace of research on craniofacial growth and development, where the classic Bolton-Brush Growth Study was historically set. Today, Dr. Hans is the Director of The Bolton-Brush Growth Study Center, performing, with great skill and dedication, the handling of the larger longitudinal sample of bone growth study. He is Associate Dean for Graduate Studies, Professor and Chairman of the Department of Orthodontics, working in clinical and theoretical activities with students of the Undergraduate Course from the School of Dental

  10. Pump for delivering heated fluids

    NASA Technical Reports Server (NTRS)

    Sabelman, E. E. (Inventor)

    1973-01-01

    A thermomechanical pump particularly suited for use in pumping a warming fluid obtained from an RTG (Radioisotope Thermal Generator) through science and flight instrumentation aboard operative spacecraft is described. The invention is characterized by a pair of operatively related cylinders, each including a reciprocating piston head dividing the cylinder into a pressure chamber confining therein a vaporizable fluid, and a pumping chamber for propelling the warming fluid, and a fluid delivery circuit for alternately delivering the warming fluid from the RTG through the pressure chamber of one cylinder to the pumping chamber of the other cylinder, whereby the vaporizable fluid within the pair of pressure chambers alternately is vaporized and condensed for driving the associated pistons in pumping and intake strokes.

  11. Nontoxic Hydroxylammonium Nitrate (HAN) Monopropellant Propulsion

    NASA Technical Reports Server (NTRS)

    McKechnie, Timothy N.

    2015-01-01

    Nontoxic monopropellants have been developed that provide better performance than toxic hydrazine. Formulations based on HAN have superior performance as compared to hydrazine with enhanced specific impulse (Isp), higher density and volumetric impulse, lower melting point, and much lower toxicity. However, HAN-based monopropellants require higher chamber temperatures (2,083 K vs. 883 K) to combust. Current hydrazine-based combustion chamber technology (Inconel® or niobium C103 and silicide coating) and catalyst (Shell 405) are inadequate. In Phase I, state-of-the-art iridium-lined rhenium chambers and innovative new foam catalysts were demonstrated in pulse and 10-second firings. Phase II developed and tested a flight-weight thruster for an environmentally green monopropellant.

  12. An interview with Mark G. Hans.

    PubMed

    Hans, Mark G; Nojima, Matilde da Cunha Gonçalves

    2014-01-01

    It is a great honor to conduct an interview with Professor Mark G. Hans, after following his outstanding work ahead of the Bolton-Brush Growth Study Center and the Department of Orthodontics at the prestigious Case Western Reserve School of Dental Medicine (CWRU) in Cleveland, Ohio. Born in Berea, Ohio, Professor Mark Hans attended Yale University in New Haven, CT, and earned his Bachelor of Science Degree in Chemistry. Upon graduation, Dr. Hans received his DDS and Masters Degree of Science in Dentistry with specialty certification in Orthodontics at Case Western Reserve University. During his education, Dr. Hans’ Master’s Thesis won the Harry Sicher Award for Best Research by an Orthodontic Student and being granted a Presidential Teaching Fellowship. As one of the youngest doctors ever certified by the American Board of Orthodontics, Dr. Hans continues to maintain his board certification. He has worked through academics on a variety of research interests, that includes the demographics of orthodontic practice, digital radiographic data, dental and craniofacial genetics, as obstructive sleep apnea syndrome, with selected publications in these fields. One of his noteworthy contributions to the orthodontic literature came along with Dr. Donald Enlow on the pages of “Essentials of Facial Growth”, being reference on the study of craniofacial growth and development. Dr. Mark Hans’s academic career is linked to CWRU, recognized as the renowned birthplace of research on craniofacial growth and development, where the classic Bolton-Brush Growth Study was historically set. Today, Dr. Hans is the Director of The Bolton-Brush Growth Study Center, performing, with great skill and dedication, the handling of the larger longitudinal sample of bone growth study. He is Associate Dean for Graduate Studies, Professor and Chairman of the Department of Orthodontics, working in clinical and theoretical activities with students of the Undergraduate Course from the School of

  13. Internet-Delivered Psychological Treatments.

    PubMed

    Andersson, Gerhard

    2016-01-01

    During the past 15 years, much progress has been made in developing and testing Internet-delivered psychological treatments. In particular, therapist-guided Internet treatments have been found to be effective for a wide range of psychiatric and somatic conditions in well over 100 controlled trials. These treatments require (a) a secure web platform, (b) robust assessment procedures, (c) treatment contents that can be text based or offered in other formats, and (d) a therapist role that differs from that in face-to-face therapy. Studies suggest that guided Internet treatments can be as effective as face-to-face treatments, lead to sustained improvements, work in clinically representative conditions, and probably are cost-effective. Despite these research findings, Internet treatment is not yet disseminated in most places, and clinical psychologists should consider using modern information technology and evidence-based treatment programs as a complement to their other services, even though there will always be clients for whom face-to-face treatment is the best option.

  14. Delivering Science from Big Data

    NASA Astrophysics Data System (ADS)

    Quinn, Peter Joseph

    2015-08-01

    The SKA will be capable of producing a stream of science data products that are Exa-scale in terms of their storage and processing requirements. This Google-scale enterprise is attracting considerable international interest and excitement from within the industrial and academic communities. In this paper we examine the data flow, storage and processing requirements of a number of key SKA survey science projects to be executed on the baseline SKA1 configuration. Based on a set of conservative assumptions about trends for HPC and storage costs, and the data flow process within the SKA Observatory, it is apparent that survey projects of the scale proposed will potentially drive construction and operations costs beyond the current anticipated SKA1 budget. This implies a sharing of the resources and costs to deliver SKA science between the community and what is contained within the SKA Observatory. A similar situation was apparent to the designers of the LHC more than 10 years ago. We propose that it is time for the SKA project and broader community to consider the effort and process needed to design and implement a distributed science data system that leans on the lessons of other projects and looks to recent developments in Cloud technologies to ensure an affordable, effective and global achievement of science goals.

  15. Prevalence of Obesity and Related Factors among Bouyei and Han Peoples in Guizhou Province, Southwest China

    PubMed Central

    Wang, Ke; Wang, Dingming; Pan, Li; Yu, Yangwen; Dong, Fen; Li, Ling; Wang, Li; Liu, Tao; Zeng, Xianjia; Sun, Liangxian; Zhu, Guangjin; Feng, Kui; Jonasson, Junmei Miao; Wu, Zhenglai; Xu, Ke; Pang, Xinglong; Chen, Ting; Pan, Hui; Ma, Jin; Zhong, Yong; Ping, Bo; Shan, Guangliang

    2015-01-01

    Objective To investigate the prevalence of general and abdominal obesity and associated factors in Bouyei and Han peoples. Design A cross-sectional study was carried out in Guizhou province, southwest China in 2012, with multi-stage sampling to enroll 4551 participants aged 20 to 80 years. General and abdominal obesity were defined by World Health Organization (WHO) for Chinese. A design-based analysis was performed to evaluate prevalence of obesity and its related factors. Results Bouyei people had a significantly lower prevalence of general obesity (4.8% vs. 10.9%, p < 0.05) and abdominal obesity (13.6% vs. 26.8%, p < 0.05) than that in Han people. Prevalence of obesity increased with age until middle-age period and declined thereafter. Men aged 40–49 years group and women aged 50–59 years group have the highest prevalence of general obesity. Prevalence of abdominal obesity was higher than that of general obesity. Middle-age, Higher income, Han people were significantly associated with an increased risk of General/abdominal obesity. Conclusions Bouyei people had a lower prevalence of general and abdominal obesity than the Han people. Etiological studies should be conducted to determine underlying genetic factors and dietary factors. PMID:26075708

  16. Hans Zinsser: a tale of two cultures.

    PubMed Central

    Summers, W. C.

    1999-01-01

    Hans Zinsser, president of the Society of American Bacteriologists in 1926, was known as much for his literary and textbook writing as for his scientific contributions. He was a widely known scientist and person of letters. His early interests in poetry and other forms of literature were maintained and developed during his career as a microbiologist, and his most enduring legacy is based on his writing about microbiology for a general readership as well as his reflective and philosophical autobiography. Images Figure 1 PMID:11049165

  17. HAN-based monopropellant assessment for spacecraft

    NASA Technical Reports Server (NTRS)

    Jankovsky, Robert S.

    1996-01-01

    The growing cost of space missions, the need for increased mission performance, and concerns associated with environmental issues are changing rocket design and propellant selection criteria. Whereas a propellant's performance was once defined solely in terms of specific impulse and density, now environmental safety, operability, and cost are considered key drivers. Present emphasis on these considerations has heightened government and commercial launch sector interest in Hydroxylammonium Nitrate (HAN)-based liquid propellants as options to provide simple, safe, reliable, low cost, and high performance monopropellant systems.

  18. Computed tomography measurement of the auricle in Han population of north China.

    PubMed

    Wang, Bo; Dong, Yan; Zhao, Yimin; Bai, Shizhu; Wu, Guofeng

    2011-01-01

    A large number of anthropometric studies of the human auricle have been conducted in various populations. However, data from Han Chinese population are currently not available. The morphology of the auricle is highly complex. Consequently, traditional direct measurement techniques are unable to provide sufficient detail and accuracy. The present study sought to provide anthropometrical data on the auricles of Han Chinese individuals using a three-dimensional (3D) computed tomography (CT) reconstruction technique. A total of 485 data sets were utilised for this study. This sample consisted of data from 241 females aged 18-75 years and 244 males aged 18-74 years. All participants were categorised by gender and further into three age groups. Twelve anthropometrical dimensions of normal auricles were measured with 3D CT. Auricular, tragal, lobular and conchal indices were calculated to further examine the auricles. Earlobes were classified into three basic groups according to the angle of the junction of the earlobe with the cheek. Few of the anthropometrical data showed significant bilateral differences in auricular dimensions. The height of the tragus, lobular length, lobular width, conchal width, protrusion at tragal level and inclination angle of auricles showed no significant differences between males and females. All the linear dimensions of auricles, except the height of the tragus, conchal length and width, increased with age for both males and females. Protrusion at the superaurale and tragal levels showed a decrease of between 4% and 9% for males and 4% and 10% for females across all age groups. This study is the first to report CT measurement of