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Sample records for chinese han population

  1. Ischemic stroke susceptibility gene in a Northern Han Chinese population

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    Wang, Haiping; Shi, Shujuan; Yan, Wenjing; Song, Yan; Zhan, Jingjing; Zhang, Chen; Wang, Haiji

    2013-01-01

    Interleukin-18 gene promoter polymorphisms are potential risk factors for ischemic cerebrovascular disease, and the –607C allele may increase ischemic stroke risk in the Han Chinese population. In the present study, we recruited 291 patients with ischemic cerebrovascular disease from the Affiliated Hospital of Qingdao University Medical College, China, and 226 healthy controls. Both patients and controls were from the Han population in northern China. Immunoresonance scattering assays detecte...

  2. Hereditary Breast Cancer in the Han Chinese Population

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    CAO, WENMING; Wang, Xiaojia; Li, Ji-Cheng

    2013-01-01

    Breast cancer is the most common malignancy among women and has a strong genetic background. So far, 13 breast cancer susceptibility genes of high or moderate penetrance have been identified. This review summarizes findings on these genes in Han Chinese. BRCA1 and BRCA2 are the 2 most important susceptibility genes. They have a relatively low mutation rate, and the most frequent sites of mutation are in exon 11. Frameshift mutations are the main type of mutation. Founder mutations may also ex...

  3. Validating GWAS-Identified Risk Loci for Alzheimer's Disease in Han Chinese Populations.

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    Wang, Hui-Zhen; Bi, Rui; Hu, Qiu-Xiang; Xiang, Qun; Zhang, Chen; Zhang, Deng-Feng; Zhang, Wen; Ma, Xiaohong; Guo, Wanjun; Deng, Wei; Zhao, Liansheng; Ni, Peiyan; Li, Mingli; Fang, Yiru; Li, Tao; Yao, Yong-Gang

    2016-01-01

    In recent years, genome-wide association studies (GWASs) have identified many novel susceptible genes/loci for Alzheimer's disease (AD). However, most of these studies were conducted in European and populations of European origin, and limited studies have been performed in Han Chinese. In this study, we genotyped 14 single-nucleotide polymorphisms (SNPs) in eight GWAS-reported AD risk genes in 1509 individuals comprising two independent Han Chinese case-control cohorts. Four SNPs (rs11234495, rs592297, rs676733, and rs3851179) in the PICALM gene were significantly associated with late-onset (LO)-AD in populations from Southwest China, whereas SNPs rs744373 (BIN1), rs9331942 (CLU), and rs670139 (MS4A4E) were linked to LO-AD in populations from East China. In the combined Han Chinese population, positive associations were observed between PICALM, CLU, MS4A4E genes, and LO-AD. The association between rs3851179 (PICALM), rs744373 (BIN1), and AD was further confirmed by meta-analysis of Asian populations. Our study verified the association between PICALM, BIN1, CLU, and MS4A4E variants and AD susceptibility in Han Chinese populations. We also discerned some regional differences concerning AD susceptibility SNPs. PMID:25452228

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

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    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 hu-mans 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.

  5. Female Specific Association between NNMT Gene and Schizophrenia in a Han Chinese population

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    Wang, Guo-Xia; Zhang, Yong; Lv, Zhuang-wei; Sun, Mao; Wu, Dan; Chen, Xin-Yu; Wu, Yuan-ming

    2014-01-01

    Accumulating evidence has shown that alterations in one carbon metabolism might play an important role in the pathogenesis of schizophrenia (SZ). Nicotinamide-N-methyltransferase (NNMT) is one of the key enzymes of one-carbon metabolism. To examine whether NNMT gene was associated with SZ in Han Chinese population, we selected seven single nucleotide polymorphisms (SNPs) in NNMT gene, and investigated its association with SZ from a cohort of 42 SZ patients and 86 healthy controls by Mass-ARRA...

  6. Variants in 9p21 Predicts Severity of Coronary Artery Disease in a Chinese Han Population.

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    Jing, Jinjin; Su, Li; Zeng, Ying; Tang, Xiaojun; Wei, Jie; Wang, Long; Zhou, Li

    2016-09-01

    Recent genome-wide association studies identified the common genetic variants in 9p21 were associated with the coronary artery disease (CAD). However, whether this locus could predict the severity of CAD in Chinese Han population is unclear. 499 CAD patients who underwent coronary angiography (CAG) have been enrolled for this study. The single-nucleotide polymorphisms rs2383207 and rs2383206 in 9p21 were genotyped in 499 CAG cases and 1519 controls in Chinese Han population. The gene dosage of 9p21 was stratified by the degree of vascular lesions and tested for association with the severity of CAD. Rs2383207 and rs2383206 demonstrated significant associations with 2-vessel and 3-vessel disease (P = 2.0×10(-3) and 1.9×10(-4) , respectively). GG genotypes of rs2383206 occurred higher proportion of left main trunk (LM) disease (P = 6.0×10(-3) ). GG genotypes of rs2383207 occurred higher proportion of left anterior descending artery disease (LAD) and right CAD (RCA) (P = 2.7×10(-6) and 1.6×10(-4) , respectively). The risk allele G of rs2383207 was associated with severity of CAD estimated by the Gensini score (P = 3.6×10(-5) ). Rs2383207 may strongly influence the development of CAD in Chinese Han population. The gene dosage in 9p21 could predict the severity of CAD. PMID:27461153

  7. Genetic variants identified by GWAS was associated with colorectal cancer in the Han Chinese population

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    Hui-Ping Qiao

    2015-01-01

    Full Text Available Aim of Study: Colorectal cancer (CRC, now the third most common cancer across the world, is known to aggregate in families. Recently, genome-wide association studies have identified two single nucleotide polymorphisms (SNP associated with CRC in Caucasians. Materials and Methods: To validate whether the same variations conferred risk to CRC in the Han Chinese population, we genotyped 760 individuals (380 controls and 380 cases samples recruited from the Han Chinese origin. Results: We found rs11987193 in 8p12 (P = 0.0472 after correction, OR = 0.751 was significantly associated with CRC but rs12080929 in 1p33 (P = 0.0650 after correction, OR = 0.750 was not. Conclusion: Our findings supported that rs11987193 is a susceptibility locus for CRC, and gene DUSP4 was possible to play a role in the pathology of CRC.

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

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    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  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. PMID:26846592

  9. Association study of SHANK3 gene polymorphisms with autism in Chinese Han population

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    Ruan Yan

    2009-06-01

    Full Text Available Abstract Background Autism, a heterogeneous disease, is described as a genetic psychiatry disorder. Recently, abnormalities at the synapse are supposed to be important for the etiology of autism.SHANK3 (SH3 and multiple ankyrin repeat domains protein gene encodes a master synaptic scaffolding protein at postsynaptic density (PSD of excitatory synapse. Rare mutations and copy number variation (CNV evidence suggested SHANK3 as a strong candidate gene for the pathogenesis of autism. Methods We performed an association study between SHANK3 gene polymorphisms and autism in Chinese Han population. We analyzed the association between five single nucleotide polymorphisms (SNPs of the SHANK3 gene and autism in 305 Chinese Han trios, using the family based association test (FBAT. Linkage disequilibrium (LD analysis showed the presence of LD between pairwise markers across the locus. We also performed mutation screening for the rare de novo mutations reported previously. Results No significant evidence between any SNPs of SHANK3 and autism was observed. We did not detect any mutations described previously in our cohort. Conclusion We suggest that SHANK3 might not represent a major susceptibility gene for autism in Chinese Han population.

  10. The association analysis polymorphism of CDKAL1 and diabetic retinopathy in Chinese Han population

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    Liu, Nai-Jia; Xiong, Qian; Wu, Hui-Hui; Li, Yan-Liang; Yang, Zhen; Tao, Xiao-Ming; Du, Yan-Ping; Lu, Bin; Hu, Ren-Ming; Wang, Xuan-Chun; Wen, Jie

    2016-01-01

    AIM To identify the contribution of CDKAL1 to the development of diabetic retinopathy (DR) in Chinese population. METHODS A case-control study was performed to investigate the genetic association between DR and polymorphic variants of CDKAL1 in Chinese Han population with type 2 diabetes mellitus (T2DM). A well-defined population with T2DM, consisting of 475 controls and 105 DR patients, was recruited. All subjects were genotyped for the genetic variant (rs10946398) of CDKAL1. Genotyping was performed by iPLEX technology. The association between rs10946398 and T2DM was assessed by univariate and multivariate logistic regression (MLR) analysis. RESULTS There were significant differences in C allele frequencies of rs10946398 (CDKAL1) between control and DR groups (45.06% versus 55.00%, P<0.05). The rs10946398 of CDKAL1 was found to be associated with the increased risk of DR among patients with diabetes. CONCLUSION Our findings suggest that rs10946398 of CDKAL1 is independently associated with DR in a Chinese Han population.

  11. Vitamin D binding protein variants associate with asthma susceptibility in the Chinese han population

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    Zhang Youming

    2011-08-01

    Full Text Available Abstract Background Asthma is a genetically heterogeneous disease. Polymorphisms of genes encoding components of the vitamin D pathway have been reported to associate with the risk of asthma. We have previously demonstrated that vitamin D status was associated with lung function in Chinese asthma patients. In this study, we tested whether polymorphisms of genes encoding for vitamin D receptor (VDR, vitamin D 25-hydroxylase (CYP2R1 and vitamin D binding protein (GC were associated with asthma in the Chinese Han population. Methods We sequenced all 8 exons of VDR and all 5 exons of CYP2R1 in a Chinese case-control cohort of asthma consisting of 467 cases and 288 unrelated healthy controls. Two mutations were identified in these regions. These variants were specified as rs2228570 in exon 2 of VDR and rs12794714 in exon 1 of CYP2R1. We also genotyped two common polymorphisms in GC gene (rs4588 and rs7041 by a PCR-restriction fragment length polymorphism (RFLP method. We analyzed the association between these 4 polymorphisms and asthma susceptibility and asthma-related traits. Results Polymorphic markers in VDR and CYP2R1 were not associated with asthma in the Chinese Han cohort. Importantly, variants in GC gene, which give rise to the two most common electrophoretic isoforms of the vitamin D binding protein, were associated with asthma susceptibility. Compared with isoform Gc1, Gc2 was significantly associated with the risk of asthma (OR = 1.35, 95% CI = 1.01-1.78 p = 0.006. Conclusions The results provide supporting evidence for association between GC variants and asthma susceptibility in the Chinese Han population.

  12. Association of AKT1 gene polymorphisms with sporadic Parkinson's disease in Chinese Han population.

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    Li, Xiao-Yuan; Teng, Ji-Jun; Liu, Yang; Wu, Yu-Bin; Zheng, Yu; Xie, An-Mu

    2016-08-26

    Genetic variants of AKT1 have been shown to influence brain function of Parkinson's disease (PD) patients, and in this paper our aim is to investigate the association between the three single-nucleotide polymorphisms (rs2498799; rs2494732; rs1130214) and PD in Han Chinese. 413 Han Chinese PD patients and 450 healthy age and gender-matched controls were genotyped using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method. Both the patient and control groups show similar genotype frequencies at the three loci: rs2498799, rs2494732 and rs1130214. We are able to identify a significant difference in the frequencies of genotype (p=0.019) and G allele (OR=0.764, 95% CI=0.587-0.995, p=0.045) both at rs2498799 between the patient and control groups. Furthermore, the association of subjects with GG genotypes versus those with GA+AA genotype remain significant after adjusting for age in the Han Chinese female cohort (OR=0.538, 95%CI=0.345-0.841, p=0.006), which is especially evident in the late-onset cohort (OR=0.521, 95%CI=0.309-0.877, p=0.012). In contrast, allele frequencies at rs2494732 and rs1130214 were similar between patients and controls in all subgroup analyses. These results suggest that polymorphism of AKT1 locus is associated with risk of PD and that the G allele at rs2498799 may decrease the risk of PD in the North-eastern part of Han Chinese female population. PMID:27353512

  13. Association study of ankylosing spondylitis and polymorphisms in ERAP1 gene in Zhejiang Han Chinese population.

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    Liu, Yangbo; Li, Liangda; Shi, Shanfen; Chen, Xin; Gao, Jianqing; Zhu, Minyu; Yuan, Jiandong

    2016-02-01

    The susceptibility loci of ERAP1 polymorphisms have been found to be strongly associated with ankylosing spondylitis (AS). The researches in multiple ethnic cohorts suggested that the population attributable risk in ERAP1 polymorphisms is at a high significance level. This study was undertaken to estimate the prevalence and incidence of subsets of AS and investigate the specific variants of ERAP1 polymorphisms in AS susceptibility, in the Han ethnic Chinese population in Zhejiang Province. AS patients were selected, diagnosed, and confirmed by a qualified rheumatologist. The basal clinical and demographic characteristics were compared with all subjects. Genotypes for eight selected single nucleotide polymorphisms (SNPs) in ERAP1 gene (rs27038, rs27037, rs27434, rs27980, rs7711564, rs30187, rs10050860, and rs17482078) were determined by using the Sequenom MassARRAY iPLEX platform in Zhejiang Han Chinese population. Association analyses were performed on the whole genotyped data set in 707 unrelated ankylosing spondylitis cases and 837 ethnically matched controls. We observed the strongest association between AS and HLA-B27, which confers over 90 % of ankylosing spondylitis cases. Moreover, we found three loci of ERAP1 polymorphisms were at a high significance level (rs27037 P = 0.00451; rs27434 P = 0.00012; rs27980 P = 0.00682) with AS in Zhejiang population. We also confirmed polymorphism locus of ERAP1 previously reported association with AS (rs27434; P = 5.3 × 10(-12)). Our results indicated a difference in the mechanism of susceptibility loci in subsets of Zhejiang Han Chinese population and provided further evidence that rs27434 is the key polymorphism associated with AS in ERAP1 gene. PMID:26350268

  14. Variation in STAT4 is associated with systemic lupus erythematosus in Chinese Northern Han population

    Institute of Scientific and Technical Information of China (English)

    SU Yin; SONG Hui; HUANG Ci-bo; HUANG Yan-hong; WANG Tian; PAN Si-si; LI Chun; LIU Xia; ZHU Lei; ZHANG Chun-fang; LI Zhan-guo; ZHAO Yi; LIU Xu; GUO Jian-ping; JIANG Quan; LIU Xiang-yuan; ZHANG Feng-chun; ZHENG Yi; LI Xiao-xia

    2010-01-01

    Background Recent studies have identified signal transducer and activator of transcription 4 (STAT4) as a susceptibility gene for systemic lupus erythematosus (SLE) in different populations. In order to examine whether the allele distribution of the single nucleotide polymorphism (SNP) in gene STAT4 rs7574865 in patients with SLE is different from those of healthy controls in Chinese Northern Han population, we investigated whether the variants of STAT4 rs7574865 were associated with any specific clinical features of SLE.Methods We genotyped SNPs in STAT4 rs7574865 in 252 patients with SLE and 497 healthy controls. All subjects were from the Northern part of Chinese Han population. The genotypes in rs7574865 were determined by polymerase chain reaction (PCR) and consequence direct sequencing of PCR products in the DNA samples.Results There was a significant difference in distribution of the SNPs in rs7574865 between the SLE patients and healthy controls. Compared with healthy controls, there was a significant correlation between ∏ genotypes in rs7574865 and the risk of SLE when GG genotype was used as a reference genotype after adjusting for gender and age. The frequency of T allele in the SLE patients was strongly significantly higher than that of healthy controls. Furthermore, there was a significant difference in the distribution of SNP in rs7574865 between male and female SLE patients, when compared with healthy controls. The frequency of T allele in rs7574865 in male patients was significantly higher than that of male healthy controls or female patients. There was no significant correlation between the frequencies of T allele in STAT4 rs7574865 and the clinical features of SLE.Conclusions The SNP rs7574865 in STAT4 is strongly associated with risk of SLE in the Chinese Northern Han population. The ∏ genotype and T allele in STAT4 rs7574869 are susceptibility factors for SLE, especially for male SLE patients.

  15. NO ASSOCIATION BETWEEN TUMOR NECROSIS FACTOR ALPHA AND OBSESSIVE COMPULSIVE DISORDER IN CHINESE HAN POPULATION

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    Objective To investigate association between tumor necrosis factor alpha (TNF-α) and obsessive compulsive disorder (OCD) in Chinese Han population.Methods Plasma concentrations of TNF-α were measured in 61 drug-free patients who fulfilled DSM-Ⅳ criteria for OCD and 93 healthy controls.TNF-α concentrations in blood were determined by enzyme-linked immunosorbent assay (ELISA).Two polymorphisms of TNF-α gene were investigated in the same patients and healthy controls:-308 G/A and-238 G/A.The allelic and genoty...

  16. Associations Between ABCG2 Gene Polymorphisms and Isolated Septal Defects in a Han Chinese Population

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    Wang, Chuan; Xie, Liang; Li, Huaying; Li, Yifei; Mu, Dezhi; Zhou, Rong; Liu, Ruiqi; Zhou, Kaiyu; Hua, Yimin

    2014-01-01

    Breast cancer resistance protein (BCRP) in the placenta, encoded by the ABCG2 gene in humans, plays an essential role in regulating fetal exposure to toxicants and the maintenance of cellular folic acid homeostasis. This study aimed at exploring the associations between 421C>A and 34G>A polymorphisms within the ABCG2 gene of the children and isolated septal defects in a Han Chinese population. An age- and gender-matched case-control study involving 210 pairs was conducted. Genotyping of the A...

  17. Clinical analysis of intraoperative radiotherapy during breast-conserving surgery of early breast cancer in the Chinese Han population

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    Xin WANG; Liu, Jiaqi; Wang, Wenyan; Feng, Qinfu; Wang, Xiang

    2015-01-01

    Purpose While results of intraoperative radiotherapy (IORT) during breast-conserving surgery (BCS) have been reported when used either as a boost at the time of surgery or as the sole radiation treatment, the clinical safety and cosmetic outcome of IORT in the Chinese Han population has not. This report reviews oncologic and cosmetic outcomes for Chinese Han breast cancer patients who received IORT either as a boost or as their sole radiation treatment at our hospital. Method From July 2008 t...

  18. Analysis of the genotype of diacylglycerol kinase delta single-nucleotide polymorphisms in Parkinson disease in the Han Chinese population

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    Wei Song; Yong Ping Chen; Rui Huang; Ke Chen; Ping Lei Pan; Jianpeng Li; Yuan Yang; Hui-Fang Shang

    2012-01-01

    Numerous Single-Nucleotide Polymorphisms (SNPs) of the Diacylglycerol Kinase Delta (DGKD) isoform 1 gene have been associated with Parkinson Disease (PD) in the genome-wide association studies of Caucasian population. This association has not been proven in the Han Chinese PD patients. This study included 376 unrelated Han Chinese PD patients from West China and 273 unrelated healthy controls from the same region. Five SNPs (rs2971859, rs1550532, rs2305539, rs2034762, and rs2242102) were geno...

  19. Association of a miRNA-137 Polymorphism with Schizophrenia in a Southern Chinese Han Population

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    Guoda Ma

    2014-01-01

    Full Text Available Both genome wide association study (GWAS and biochemical studies of Caucasian populations indicate a robust association between the miR-137 genetic variant rs1625579 and schizophrenia, but inconsistent results have been reported. To assay the association between this variant and schizophrenia, we genotyped 611 schizophrenic patients from Southern Chinese Han population for the risk single nucleotide polymorphism (SNP rs1625579 using the SNaPshot technique and compared the clinical profiles of different genotypes. Additionally, a meta-analysis was performed using the combined sample groups from five case-control publications and the present study. Both the genotype and allele distributions of the rs1625579 SNP were significantly different between patients and controls (P=0.036 and 0.026, SNP. TT genotype carriers showed slightly lower Brief Assessment of Cognition in Schizophrenia- (BACS- derived working memory performance than G carriers (15.58 ± 9.56 versus 19.71 ± 8.18, P=0.045. In the meta-analysis, we observed a significant association between rs1625579 and schizophrenia under different genetic models (all P<0.05. The results of our study and meta-analysis provide convincing evidence that rs1625579 is significantly associated with schizophrenia. Furthermore, the miR-137 polymorphism influences the working memory performance of schizophrenic patients in a Chinese Han population.

  20. Population genetics of 17 Y-STR loci in a large Chinese Han population from Zhejiang Province, Eastern China.

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    Wu, Weiwei; Pan, Lipeng; Hao, Honglei; Zheng, Xiaoting; Lin, Jinfeng; Lu, Dejian

    2011-01-01

    Seventeen Y-STRs (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a, DYS385b, DYS438, DYS439, DYS437, DYS448, DYS456, DYS458, DYS635 and YGATAH4) were analyzed for 4451 Chinese Han unrelated males from Zhejiang Province, Eastern China, with the AmpFlSTR Yfiler™ PCR Amplification kit. A total of 3389 different haplotypes was identified, of which 2877 were unique and 512 repeatedly found among different individuals. The overall haplotype diversity (HD) and discrimination capacity (DC) were 0.999696 and 0.761402, respectively. Analysis of molecular variance (AMOVA) tests demonstrated that genetic distance between Zhejiang Han and most Chinese Han populations is closer than that between Zhejiang Han and non-Han populations. This study provides information for the application of Y-chromosomal STRs to forensic identification, indicating that the extended genotyping of Y-STRs is needed for forensic practice. PMID:20457064

  1. Association of TLR9 polymorphisms with sporadic Parkinson's disease in Chinese Han population.

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    Zhu, Konghua; Teng, Jijun; Zhao, Jing; Liu, Hongxin; Xie, Anmu

    2016-07-01

    Previous studies have acknowledged that inflammatory reaction has implicated in Parkinson's disease (PD) pathogenesis nowadays. Toll-like receptors (TLRs), as key players in the inflammatory reaction, play a pivotal role in the PD pathogenesis and accumulating evidences have shown that TLRs are increased in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine model of PD. Therefore, the present study aimed to identify the role of the polymorphisms of rs187084 and rs352140 in TLR9 gene with PD. The genotypes were detected by polymerase chain reaction and restriction fragment length polymorphism analysis in 380 PD patients and 380 healthy matched individuals in Chinese Han population. For rs352140, our data revealed a significant difference in allele distribution in female PD group and its healthy matched control (P = 0.040). Moreover, rs352140 T allele carriers of female group were associated with a reduced risk of PD (TT + TC vs. CC, P = 0.018). However, no significant differences in genotype and allele distribution were found between the age and gender subgroups for rs187084. Therefore, our studies indicate that the rs352140 gene polymorphism may be associated with the susceptibility of female PD in Chinese Han population. PMID:26000920

  2. TPM1 polymorphisms and nonsyndromic orofacial clefts susceptibility in a Chinese Han population.

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    Qian, Yajing; Li, Dandan; Ma, Lan; Zhang, Hongchuang; Gong, Miao; Li, Sheng; Yuan, Hua; Zhang, Weibing; Ma, Junqing; Jiang, Hongbing; Pan, Yongchu; Wang, Lin

    2016-05-01

    Located at 15q22 a susceptibility region for nonsyndromic orofacial clefts (NSOC), TPM1 encodes a group of highly conserved ubiquitous actin-binding proteins involved in the muscle contraction and cytoskeleton organization. Considering the multiple functions of TPM1 gene, we investigated the potential relationship between TPM1 polymorphisms and risk of NSOC in a Chinese Han population. Four tag single nucleotide polymorphisms (tSNPs) of TPM1 (rs11071720, rs3803499, rs12148828, and rs1972041) were selected to conduct a case-control study with 673 NSOC patients and 705 unrelated healthy controls from a Chinese Han population. The SNPs were genotyped by the IPLEX Sequenom MassARRAY platform. SNP rs1972041GA showed a decreased risk of NSOC in heterozygotes (P = 0.038, OR = 0.77, 95%CI = [0.61, 0.99]). Further stratified analysis revealed an enhanced protective effect of the minor allele G at rs197204 on lip with cleft palate (CLP) and cleft lip with or without cleft palate (CL/P) groups under a codominant or dominant model. No association was observed between the remaining three markers (rs11071720, rs3803499, and rs12148828) and NSOC as well as its subgroups. TPM1 polymorphisms might contribute to the etiology of NSOC, and more emphasis should be placed on TPM1 during craniofacial development. © 2016 Wiley Periodicals, Inc. PMID:26792422

  3. A case-control association study of NRXN1 polymorphisms with schizophrenia in Chinese Han population

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    Lu Tianlan

    2011-04-01

    Full Text Available Abstract Background Recent research has implicated that mutations in the neurexin-1 (NRXN1 gene on chromosome 2p16.3 might play a role in schizophrenia, autism, and nicotine dependence. In order to explore the association of NRXN1 polymorphisms with schizophrenia, we made a case-control association study in Chinese Han population. Methods We examined six tag single nucleotide polymorphisms (SNPs spanning 116.7 kb of NRXN1 in 768 schizophrenic patients and 738 healthy control subjects. The association of NRXN1 polymorphisms with schizophrenia and the age-at-onset of this disease were explored. Results Our results showed that four SNPs of NRXN1 gene were significantly associated with schizophrenia (rs10490168: G > A, p = 0.017; rs2024513: A > G, p = 0.006; rs13382584: T > C, p = 0.009; and rs1558852: G > A, p = 0.031. Furthermore, the association of SNP rs2024513 with schizophrenia remained significance after the Bonferroni correction. Haplotypes consisting of above six SNPs also showed significantly associated with schizophrenia (global chi-square = 14.725, p = 0.022. A protective haplotype AGTGCA remained associated with schizophrenia, even after 10,000 permutation tests (empirical p-value = 0.043. However, we did not find any association with age-at-onset of schizophrenia with NRXN1 polymorphisms. Conclusions Our findings suggest that NRXN1 might represent a major susceptibility gene for schizophrenia in Chinese Han population.

  4. A study of single nucleotide polymorphisms of GRIN2B in schizophrenia from Chinese Han population.

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    Guo, Zhenming; Niu, Weibo; Bi, Yan; Zhang, Rui; Ren, Decheng; Hu, Jiaxin; Huang, Xiaoye; Wu, Xi; Cao, Yanfei; Yang, Fengping; Wang, Lu; Li, Weidong; Li, Xingwang; Xu, Yifeng; He, Lin; Yu, Tao; He, Guang

    2016-09-01

    Schizophrenia is a severe and complex mental disorder with high heritability. There is evidence that mutations in the gene of Nmethyl-d-aspartate-type glutamate receptors (NMDAR) are associated with schizophrenia. GRIN2B encodes a subunit of NMDARs, and has been identified as a candidate gene for many psychiatric disorders, especially schizophrenia. In this study, we investigated whether single nucleotide polymorphisms (SNPs) in GRIN2B were associated with schizophrenia. Four SNPs (rs890, rs1806191, rs219872, rs172677) were genotyped in 752 schizophrenic patients and 846 healthy controls of the Chinese Han population. Our results indicate differences in allele and genotype frequencies of rs890 between case and control. These results were assessed by adapting different genetic models (codominant, dominant, recessive, overdominant, log-additive models). After controlling for confounding factors including sex and age, rs890 remained associated with schizophrenia. In addition, rs890 and rs1806191 were found to form a haplotype associated with schizophrenia. In summary, our results indicate that the GRIN2B SNP rs890 might be associated with schizophrenia in the Chinese Han population. PMID:27453061

  5. Mapping of hepatic expression quantitative trait loci (eQTLs) in a Han Chinese population

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    Wang, Xiaoliang; Tang, Huamei; Teng, Mujian; Li, Zhiqiang; Li, Jianguo; Fan, Junwei; Zhong, Lin; Sun, Xing; Xu, Junming; Chen, Guoqing; Chen, Dawei; Wang, Zhaowen; Xing, Tonghai; Zhang, Jinyan; Huang, Li; Wang, Shuyun; Peng, Xiao; Qin, Shengying; Shi, Yongyong; Peng, Zhihai

    2014-01-01

    Background Elucidating the genetic basis underlying hepatic gene expression variability is of importance to understand the aetiology of the disease and variation in drug metabolism. To date, no genome-wide expression quantitative trait loci (eQTLs) analysis has been conducted in the Han Chinese population, the largest ethnic group in the world. Methods We performed a genome-wide eQTL mapping in a set of Han Chinese liver tissue samples (n=64). The data were then compared with published eQTL data from a Caucasian population. We then performed correlations between these eQTLs with important pharmacogenes, and genome-wide association study (GWAS) identified single nucleotide polymorphisms (SNPs), in particular those identified in the Asian population. Results Our analyses identified 1669 significant eQTLs (false discovery rate (FDR) < 0.05). We found that 41% of Asian eQTLs were also eQTLs in Caucasians at the genome-wide significance level (p=10−8). Both cis- and trans-eQTLs in the Asian population were also more likely to be eQTLs in Caucasians (p<10−4). Enrichment analyses revealed that trait-associated GWAS-SNPs were enriched within the eQTLs identified in our data, so were the GWAS-SNPs specifically identified in Asian populations in a separate analysis (p<0.001 for both). We also found that hepatic expression of very important pharmacogenetic (VIP) genes (n=44) and a manually curated list of major genes involved in pharmacokinetics (n=341) were both more likely to be controlled by eQTLs (p<0.002 for both). Conclusions Our study provided, for the first time, a comprehensive hepatic eQTL analysis in a non-European population, further generating valuable data for characterising the genetic basis of human diseases and pharmacogenetic traits. PMID:24665059

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

    Science.gov (United States)

    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

  7. Prediction consistency and clinical presentations of breast cancer molecular subtypes for Han Chinese population

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    Huang Chi-Cheng

    2012-09-01

    Full Text Available Abstract Background Breast cancer is a heterogeneous disease in terms of transcriptional aberrations; moreover, microarray gene expression profiles had defined 5 molecular subtypes based on certain intrinsic genes. This study aimed to evaluate the prediction consistency of breast cancer molecular subtypes from 3 distinct intrinsic gene sets (Sørlie 500, Hu 306 and PAM50 as well as clinical presentations of each molecualr subtype in Han Chinese population. Methods In all, 169 breast cancer samples (44 from Taiwan and 125 from China of Han Chinese population were gathered, and the gene expression features corresponding to 3 distinct intrinsic gene sets (Sørlie 500, Hu 306 and PAM50 were retrieved for molecular subtype prediction. Results For Sørlie 500 and Hu 306 intrinsic gene set, mean-centring of genes and distance-weighted discrimination (DWD remarkably reduced the number of unclassified cases. Regarding pairwise agreement, the highest predictive consistency was found between Hu 306 and PAM50. In all, 150 and 126 samples were assigned into identical subtypes by both Hu 306 and PAM50 genes, under mean-centring and DWD. Luminal B tended to show a higher nuclear grade and have more HER2 over-expression status than luminal A did. No basal-like breast tumours were ER positive, and most HER2-enriched breast tumours showed HER2 over-expression, whereas, only two-thirds of ER negativity/HER2 over-expression tumros were predicted as HER2-enriched molecular subtype. For 44 Taiwanese breast cancers with survival data, a better prognosis of luminal A than luminal B subtype in ER-postive breast cancers and a better prognosis of basal-like than HER2-enriched subtype in ER-negative breast cancers was observed. Conclusions We suggest that the intrinsic signature Hu 306 or PAM50 be used for breast cancers in the Han Chinese population during molecular subtyping. For the prognostic value and decision making based on intrinsic subtypes, further prospective

  8. Common variants in QPCT gene confer risk of schizophrenia in the Han Chinese population.

    Science.gov (United States)

    Khan, Raja Amjad Waheed; Chen, Jianhua; Shen, Jiawei; Li, Zhiqiang; Wang, Meng; Wen, Zujia; Song, Zhijian; Li, Wenjin; Xu, Yifeng; Shi, Yongyong; Yi, Qizhong; Ji, Weidong

    2016-03-01

    Schizophrenia (SCZ) is a common and severe mental disorder, its etiology has not been elucidated completely. In one previous genome-wide association study (GWAS) of SCZ in the Caucasian population, the QPCT has been reported as susceptible gene for SCZ. The QPCT gene encodes Glutaminyl cyclase (QC), an enzyme which is involved in the post translational modification by converting N-terminal glutamate of protein to pyroglutamate, which is resistant to protease degradation, more hydrophobic, and prone to aggregation and neurotoxic. To further investigate the role of this gene in the pathogenesis of schizophrenia in the Han Chinese population, we conducted this study in 1,248 (Mean age ± S.D, 36.44 years ± 9.0) SCZ cases, 1,248 (Mean age ± S.D, 30.62 years ± 11.35) healthy control samples for a case control study. We genotyped six SNPs in this study, including one positive SNP of the previous study, using the Sequenom MassARRAY platform. We found that rs2373000 was significantly associated with SCZ before correction [rs2373000: P allele = 0.016, χ(2)  = 5.784, OR [95%CI] = 0.861 [0.762-0.972], P genotype = 0.018, χ(2)  = 0.069]. After permutation correction for multiple testing, rs2373000 [rs2373000: P Allele corrected = 0.063, P genotype corrected = 0.069] showed marginal association with SCZ. Additionally, one pathogenic haplotype (TGT) containing rs2373000 was also significantly associated with SCZ. Our results are consistent with the findings of previous study and the genetic risk of QPCT gene for SCZ also exists in the Han Chinese population. © 2015 Wiley Periodicals, Inc. PMID:26492838

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

    Science.gov (United States)

    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. PMID:25917671

  10. Association of inflammatory gene polymorphisms with ischemic stroke in a Chinese Han population

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    Zhao Nan

    2012-07-01

    Full Text Available Abstract Background Inflammatory mechanisms are important in stroke risk, and genetic variations in components of the inflammatory response have been implicated as risk factors for stroke. We tested the inflammatory gene polymorphisms and their association with ischemic stroke in a Chinese Han population. Methods A total of 1,124 ischemic stroke cases and 1,163 controls were genotyped with inflammatory panel strips containing 51 selected inflammatory gene polymorphisms from 35 candidate genes. We tested the genotype-stroke association with logistic regression model. Results We found two single nucleotide polymorphisms (SNPs in CCL11 were associated with ischemic stroke. After adjusting for multiple testing using false discovery rate (FDR with a 0.20 cut-off point, CCL11 rs4795895 remained statistically significant. We further stratified the study population by their hypertension status. In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 were nominally associated with increased risk of stroke. In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108, TGFB1 rs1800469, LTA rs909253 and CCL11 rs4795895 were associated with ischemic stroke. After correction for multiple testing, CCR2 rs1799864 and CCR5 rs1799987 remained significant in the hypertensive group, and CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108, TGFB1 rs1800469, LTA rs909253 remained significant in the non-hypertensive group. Conclusions Our results indicate that inflammatory genetic variants are associated with increased risk of ischemic stroke in a Chinese Han population, particularly in non-hypertensive individuals.

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

    Science.gov (United States)

    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. © 2016 Wiley Periodicals, Inc. PMID:26888291

  12. Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.

    Science.gov (United States)

    Bi, D; Wang, H; Shang, Q; Xu, Y; Wang, F; Chen, M; Ma, C; Sun, Y; Zhao, X; Gao, C; Wang, L; Zhu, C; Xing, Q

    2016-08-01

    The basement membrane (BM) is an extracellular matrix associated with overlying cells and is important for proper tissue development, stability, and physiology. COL4A1 is the most abundant component of type IV collagen in the BM, and COL4A1 variants can present with variable phenotypes that might be related to cerebral palsy (CP). We postulated, therefore, that variations in the COL4A1 gene might play an important role in the etiology of CP. In this study, six single nucleotide polymorphisms (SNPs) in the COL4A1 gene were genotyped among 351 CP patients and 220 healthy controls from the Chinese Han population. Significant association was found for an association between CP and rs1961495 (allele: p = 0.008, odds ratio (OR) = 1.387, 95% confidence interval (CI) = 1.088-1.767) and rs1411040 (allele: p = 0.009, OR = 1.746, 95% CI = 1.148-2.656) SNPs of the COL4A1 gene. Multifactor dimensionality reduction analysis suggested that these SNPs had interactive effects on the risk of CP. This study is the first attempt to investigate the contribution of polymorphisms in the COL4A1 gene to the susceptibility of CP in a Chinese Han population. This study shows an association of the COL4A1 gene with CP and suggests a potential role of COL4A1 in the pathogenesis of CP. PMID:26748532

  13. NEDD4 single nucleotide polymorphism rs2271289 is associated with keloids in Chinese Han population.

    Science.gov (United States)

    Zhao, Ying; Liu, Sheng-Li; Xie, Jian; Ding, Mao-Qian; Lu, Meng-Zhu; Zhang, Lan-Fang; Yao, Xiu-Hua; Hu, Bai; Lu, Wen-Sheng; Zheng, Xiao-Dong

    2016-01-01

    Keloids are abnormally raised fibroproliferative lesions that usually occur following cutaneous traumas. Recently, a large-scale genome-wide association study (GWAS) has identified multiple single nucleotide polymorphisms (SNPs) in three genetic loci that are associated with keloids in Japanese population. Subsequently, two reported loci 1q41 (rs873549 and rs1442440) and 15q21.3 (rs2271289) for keloids were confirmed in selected Chinese population. The association of these SNPs with clinical features of keloids, has not yet been studied. To explore the role of these SNPs in the pathogenesis of keloids, we performed a case-controlled study in another independent Chinese Han population to analyze the correlation between 4 SNPs (rs873549, rs2118610, rs1511412, rs2271289) and keloids phenotypes. 309 keloids patients and 1080 control subjects were included. The results showed that, in the dominant mode of inheritance, the minor allele T of SNP rs2271289 had significantly higher odd ratios (ORs) in the severe keloid group compared with both the controls and the mild keloid group. The ORs were maintained after Bonferroni's correction (OR: 4.09, 95% CI: 1.78-9.37, P-value 3.25E-04). The ratio of the severe: mild OR for rs2271289 (dominant model) is (4.73/1.84=2.57). Similar associations in SNP rs2271289 were seen for groups with no family history and multiplesite compared with the control groups. No associations between keloid number, family history or severity relative to the controls were observed for the other three SNPs. Our data support that rs2271289 is strongly associated with severe keloids and might contribute to the complexity of clinical features of keloids. PMID:27158346

  14. Genetic association between selected cytokine genes and glioblastoma in the Han Chinese population

    International Nuclear Information System (INIS)

    Glioblastoma (GBM) is the most malignant brain tumor. Many abnormal secretion and expression of cytokines have been found in GBM, initially speculated that the occurrence of GBM may be involved in these abnormal secretion of cytokines. This study aims to detect the association of cytokine genes with GBM. We selected seven tag single nucleotide polymorphisms (tSNPs) in six cytokine genes, which previously reported to be associated with brain tumors, and analyzed their association with GBM in a Han Chinese population using χ2 test and genetic model analysis. We found two risk tSNPs and one protective tSNP. By χ2 test, the rs1801275 in IL-4R showed an increased risk of GBM. In the genetic model analysis, the genotype “TC” of rs20541 in IL-13 gene showed an increased risk of GBM in over-dominant model (OR = 2.00; 95% CI, 1.13-3.54, p = 0.015); the genotype “CT” of rs1800871 in the IL-10 gene showed a decrease risk in the over-dominant model (OR = 0.57; 95% CI, 0.33 – 0.97; p = 0.037). The genotype “AG” of rs1801275 in the IL-4R gene showed an increase risk in over-dominant model (OR = 2.29; 95% CI, 1.20 - 4.35; p = 0.0081) We further analyzed whether the six cytokine genes have a different effect on the disease in gender specific population, and found that the allele “G” of rs2243248 in the IL-4 gene showed a decrease risk of GBM in female (OR = 0.35, 95% CI, 0.13 - 0.94, p = 0.0032), but the allele “T” showed a decrease risk in male (OR = 0.30, 95% CI, 0.17 - 0.53, p = 0.0032). Our findings, combined with previously reported results, suggest that cytokine genes have potential role in GBM development, which may be useful to early prognostics for GBM in the Han Chinese population

  15. Contribution of the Akt2 gene to type 2 diabetes in the Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    SUN Xiu-qin; LUO Ying-ying; AN Ling-wang; CHU Lin; HUO Li-li; HAN Xue-yao; ZHOU Xiang-hai; REN Qian; JI Li-nong

    2011-01-01

    Background The Akt2 protein kinase is thought to be a key mediator of the insulin signal transduction process. Akt2 is suggested to play a role in glucose metabolism and the development or maintenance of proper adipose tissue and islet mass. In order to determine whether the Akt2 gene plays a role in the pathogenesis of type 2 diabetes characterized by insulin resistance, and to further identify if variations in this gene have a relationship with type 2 diabetes, we sequenced the entire coding region and splice junctions of Akt2 and made a further case-control study to explore the association between single-nucleotide polymorphisms (SNPs) in this gene and type 2 diabetes in the Chinese Han population.Methods We selected 23 probands with a type 2 diabetic pedigree whose family members' average onset age was within 25 to 45 years old. The body mass index of all the participants was lower than 28 kg/m2 and all of them were insulin-resistant (the fasting insulin level >100 pmol/L or 16 μlU/ml). The entire coding region and splice junctions of Akt2 were directly sequenced in these 23 probands. SNPs with a frequency of minor allele over 20 percent were selected to be further studied in a case-control study. We chose 743 non-diabetic subjects as the control group and 742 type 2 diabetic patients as the case group. All these subjects were genotyped. A Snapshot Technology Platform (Applied Biosystems) was used for genotyping.Results The Akt2 genes from all 23 subjects were successfully sequenced. We did not identify any mutation in the type 2 diabetic pedigree. Two SNPs were identified, 13010323T>C and 13007939G>T. 13010323T>C was in intron 9, which was the location of rs2304188 reported in Genbank. Its minor allele frequency was 13.04%. 13007939G>T was in the 3'-untranslated region (UTR) of exon 14, which was the location of rs2304186 reported in Genbank. Its minor allele frequency was 34.78%. The allele frequency of rs2304188 and rs2304186 were consistent with

  16. Sequence Variants of ADIPOQ and Association with Type 2 Diabetes Mellitus in Taiwan Chinese Han Population

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    Ming-Kai Tsai

    2014-01-01

    Full Text Available Diabetes is a serious global health problem. Large-scale genome-wide association studies identified loci for type 2 diabetes mellitus (T2DM, including adiponectin (ADIPOQ gene and transcription factor 7-like 2 (TCF7L2, but few studies clarified the effect of genetic polymorphisms of ADIPOQ and TCF7L2 on risk of T2DM. We attempted to elucidate association between T2DM and polymorphic variations of both in Taiwan’s Chinese Han population, with our retrospective case-control study genotyping single nucleotide polymorphisms (SNPs in ADIPOQ and TCF7L2 genes both in 149 T2DM patients and in 139 healthy controls from Taiwan. Statistical analysis gauged association of these polymorphisms with risk of T2DM to show ADIPOQ rs1501299 polymorphism variations strongly correlated with T2DM risk (P=0.042, with rs2241766 polymorphism being not associated with T2DM (P=0.967. However, both polymorphisms rs7903146 and rs12255372 of TCF7L2 were rarely detected in Taiwanese people. This study avers that ADIPOQ rs1501299 polymorphism contributes to risk of T2DM in the Taiwanese population.

  17. Association of TBX5 gene polymorphism with ventricular septal defect in the Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    LIU Cai-xia; SHEN A-dong; LI Xiao-feng; JIAO Wei-wei; BAI Song; YUAN Feng; GUAN Xiao-lei; ZHANG Xin-gen; ZHANG Gui-rong; LI Zhong-zhi

    2009-01-01

    Background Congenital heart disease is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with development of the heart. A recent focus is the role of transcription factor TBX5 in the development of atria, left ventricle and conduction system. As part of a larger study, high density, single nucleotide polymorphism (SNP) scanning was used to explore the relationship between TBX5 gene polymorphism and susceptibility to ventricular septal defect not associated with forelimb malformation in the Chinese Han population. Methods One hundred and ninety two paediatric patients with congenital ventricular septal defect and 192 matched healthy control subjects were studied. The haplotype reconstructions were calculated by PHASE2.0 software. Haploview software was used to 15erform linkage disequilibrium assessment and defining of haplotype blocks. The algorithm used for defining of blocks was the confidence interval method. Results The TBX5 gene region can be divided into 3 haplotype blocks of 27, 15 and 2 SNPs. Strong linkage disequilibrium exists within each block. SNP rs11067075 within the TBX5 gene had significant correlation with ventricular septal defect (P=0.0037) by single marker association analysis. In addition, a 20 kb haplotype composed of 27 SNPs correlated with ventricular septal defect (P=0.05, multiple loci regression analyses based on reconstructed haplotype blocks). Conclusions TBX5 is associated with the occurrence of ventricular septal defect and may be a predisposing gene to congenital heart disease in Hart Chinese. This finding has set a direction for further genetic and functional studies.

  18. Establishment of risk model for pancreatic cancer in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Xing-Hua Lu; Li Wang; Hui Li; Jia-Ming Qian; Rui-Xue Deng; Lu Zhou

    2006-01-01

    AIM: To investigate risk factors for pancreatic cancer and establish a risk model for Han population.METHODS: This population-based case-control study was carried out from January 2002 to April 2004. One hundred and nineteen pancreatic cancer patients and 238 healthy people completed the questionnaire which was used for risk factor analysis. Logistic regression analysis was used to calculate odds ratio (ORs), 95%confidence intervals (Cis) and β value, which were further used to establish the risk model.RESULTS: According to the study, people who have smoked more than 17 pack-years had a higher risk to develop pancreatic cancer compared to non-smokers or light smokers (not more than 17 pack-years) (OR 1.98;95% CI 1.11-3.49, P=0.017). More importantly, heavy smokers in men had increased risk for developing pancreatic cancer (OR 2.11; 95%CI 1.18-3.78, P=0.012)than women. Heavy alcohol drinkers (>20 cup-years)had increased risk for pancreatic cancer (OR 3.68;95%CI 1.60-8.44). Daily diet with high meat intak was also linked to pancreatic cancer. Moreover, 18.5% of the pancreatic cancer patients had diabetes mellitus compared to the control group of 5.8% (P= 0.0003). Typical symptoms of pancreatic cancer were anorexia, upper abdominal pain, bloating, jaundice and weight loss. Each risk factor was assigned a value to represent its impor tance associated with pancreatic cancer. Subsequently by adding all the points together, a risk scoring model was established with a value higher than 45 as being at risk to develop pancreatic cancer.CONCLUSION: Smoking, drinking, high meat diet and diabetes are major risk factors for pancreatic cancer. A risk model for pancreatic cancer in Chinese Hah population has been established with an 88.9% sensitivity and a 97.6% specificity.

  19. Haplotype diversity of 17 Y-STR loci in a Chinese Han population sample from Shanxi Province, Northern China.

    Science.gov (United States)

    Bai, Rufeng; Zhang, Zhong; Liang, Quanzeng; Lu, Di; Yuan, Li; Yang, Xue; Shi, Mei sen

    2013-01-01

    The distribution of 17 Y-chromosome STR loci DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y-GATA-H4, DYS437, DYS438, and DYS448 haplotypes was determined in a population sample of 222 unrelated Chinese Han from Shanxi Province, Northern China. A total of 219 haplotypes were observed, and of these, 216 were unique, while 3 were found two times. The overall haplotype diversity was 0.9999 and the discrimination capacity was 0.9865, indicating a high potential for differentiating between male individuals in this population. Comparison analysis via Analysis of Molecular Variance (AMOVA) and construction of MDS plot revealed that Shanxi Han sample clusters with Chinese origin populations and stands far apart of the non-Chinese populations, justifying the establishment of local databases in Shanxi Han population for any future forensic and genetic epidemiology efforts in this region. PMID:23116721

  20. Variants of Interferon Regulatory Factor 5 are Associated with Neither Neuromyelitis Optica Nor Multiple Sclerosis in the Southeastern Han Chinese Population

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    Qi-Bing Liu

    2015-01-01

    Conclusions: Our preliminary study indicates that genetic variants in IRF5 may affect neither NMO nor MS in the Southeastern Han Chinese population. Further studies with a large sample size and diverse ancestry populations are needed to clarify this issue.

  1. Distribution Characteristics and Linkage Disequilibrium of TIM4 Promoter Polymorphisms in Asthma Patients of Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    Pengcheng CAI; Qiwen WU; Lin WANG; Juan XIONG; Fenghua CHEN; Lihua HU

    2008-01-01

    To investigate the distribution characteristics and linkage disequilibrium of T cell immunoglobulin domain and mucin domain protein 4 (TIM4) promoter polymorphisms in asthma patients of Chinese Han population, the promoter region of TIM4 was re-sequenced by PCR-sequencing,and linkage disequilibrium was analyzed by SHEsis software. Four single nucleotide polymorphisms (SNPs) in the promoter region of TIM4 were detected, including two new SNPs (at positions-1609, -153) and two reported SNPs (rs6874202, rs6882076). The frequency distribution of rs6882076 was different among different races (P<0.05). In addition, linkage disequilibrium among the SNPs of the promoter region of TIM4 was found and GGTG was the predominant haplotype.There were four SNPs in the promoter region of TIM4 in asthma patients of Chinese Han population,which were in linkage disequilibrium.

  2. A neuropeptide Y variant (rs16139 associated with major depressive disorder in replicate samples from Chinese Han population.

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    Yongjun Wang

    Full Text Available OBJECTIVE: This study aimed to investigate the single nucleotide polymorphisms (SNPs of neuropeptide Y (NPY and major depressive disorder (MDD in Chinese Han population. DESIGN: Prospective and randomized studies were carried out. PATIENTS: A total of 700 patients (324 male and 376 female; mean age = 40±14.9 years with depression who met the diagnostic criteria of Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV and 673 healthy controls (313 male and 360 female; mean age = 41.9±17.2 years were used to investigate the relationship between SNPs of NPY and the pathogenesis of MDD. A total of 417 patients (195 male and 202 female; mean age = 36±14.2 years diagnosed with MDD and 314 healthy controls (153 male and 161 female; mean age = 37.9±14.2 years from Chinese Han population were used to verify the relationship between SNPs of NPY and the pathogenesis of MDD. INTERVENTION AND OUTCOME: Ligase detection reactions were performed to detect the SNP sites of NPY. A series of statistical methods was carried out to investigate the correlation between the NPY gene SNP and MDD. RESULTS: Statistical analysis showed a significant correlation between the SNP sites rs16139 in NPY and the morbidity of depression. Patients with MDD have a lower frequency of A-allele in rs16139 in replicate samples from Chinese Han population. However, the frequency varied between male and female patients. CONCLUSION: The gene polymorphism loci rs16139 was closely related to MDD in Chinese Han population.

  3. C-reactive protein polymorphisms and genetic susceptibility to ischemic stroke and hemorrhagic stroke in the Chinese Han population

    OpenAIRE

    Wang, Qi; Ding, Hu; Tang, Jia-rong; Zhang, Lan; Xu, Yu-jun; Yan, Jiang-tao; Wang, Wei; Hui, Ru-tai; Wang, Cong-Yi; Wang, Dao-wen

    2009-01-01

    Aim: The inflammatory marker C-reactive protein (CRP) has been strongly correlated with the risk of cardiovascular disease. Some single-nucleotide polymorphisms (SNPs) have been reported to be associated with serum CRP levels. In this study, we assessed the genetic association between SNPs within the CRP gene and ischemic and hemorrhagic stroke in the Han Chinese population. Methods: This study comprises 564 ischemic stroke patients, 220 hemorrhagic stroke patients and 564 controls from the e...

  4. Meta-analysis of association studies between five candidate genes and type 2 diabetes in Chinese Han population.

    Science.gov (United States)

    Jing, Chen; Xueyao, Han; Linong, Ji

    2012-10-01

    The multiple small-scale association studies of candidate genes for type 2 diabetes mellitus in the Chinese Han population have shown inconsistent results. Here, we performed a meta-analysis to evaluate the contribution of five candidate genes to the pathogenesis of type 2 diabetes in the Chinese Han population. We searched for relevant published papers and used STATA v.11.0 to perform a meta-analysis on six single-nucleotide polymorphisms in five genes-ADIPOQ-rs2241766 (SNP45) and -rs1501299 (SNP276), ADRB3-rs4994 (Trp64Arg), CAPN10-rs3792267 (SNP43), ENPP1-rs1044498 (K121Q), and PPARGC1A-rs8192678 (Gly482Ser)-in the Chinese Han population under an additive genetic model. The pooled odds ratios (95% confidence intervals and P-values) were 0.71 (0.60-0.83; P ADRB3-rs4994, 0.79 (0.57-1.10; P = 0.163) for CAPN10-rs3792267, 1.41 (1.13-1.76; P = 0.003) for ENPP1-rs1044498, and 1.54 (1.34-1.81; P ADRB3-rs4994, ENPP1-rs1044498, and PPARGC1A-rs8192678 (I² = 0.0, 43.4, and 23.3%, respectively). Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of ENPP1-rs1044498, and the A allele of PPARGC1A-rs8192678 increase the risk of type 2 diabetes in the Chinese Han population. PMID:22391941

  5. Genetic association between CARD9 variants and inflammatory bowel disease was not replicated in a Chinese Han population

    OpenAIRE

    Wang, Zhengting; Fan, Rong; Wang, Lei; Zhou, Jie; Zheng, Sichang; Hu, Shurong; Chen, Mengmeng; Zhang, Tianyu; Lin, Yun; Zhang, Maochen; Zhong, Jie

    2015-01-01

    Objective: In order to investigate whether CARD9 gene is associated with IBD in Chinese Han population, we replicated 2 SNPs of CARD9 which have been reported to be significantly associated with IBD. Methods: Two SNPs were genotyped using polymerase chain reaction with sequence-specific primers in 288 patients (232 CD patients, 56 UC patients) and 274 controls. Results: The frequencies and distributions of alleles and genotypes of the tested SNPs were analyzed, and no significant differences ...

  6. Involvement of tryptophan hydroxylase 2 gene polymorphisms in susceptibility to tic disorder in Chinese Han population

    Directory of Open Access Journals (Sweden)

    Zheng Ping

    2013-01-01

    Full Text Available Abstract Background Tryptophan hydroxylase-2 (TPH2 is a potential candidate gene for screening tic disorder (TD. Methods A case–control study was performed to examine the association between the TPH2 gene and TD. The Sequenom® Mass ARRAY iPLEX GOLD System was used to genotype two single nucleotide polymorphisms (SNPs of the TPH2 gene in 149 TD children and in 125 normal controls. Results For rs4565946, individuals with the TT genotype showed a significantly higher risk of TD than those with TC plus CC genotypes [odds ratio (OR =3.077, 95% confidence interval (CI: 1.273–7.437; P = 0.009], as did male TD children with the TT genotype (OR = 3.228, 95% CI: 1.153–9.040; P = 0.020. The G allele of rs4570625 was significantly more frequent in TD children with higher levels of tic symptoms (Yale Global Tic Severity Scale, YGTSS than those in controls among the male children (OR = 1.684, 95%: 1.097–2.583; P = 0.017]. TD children with severe tic symptoms had significantly higher frequencies of rs4546946 TT genotype than did normal controls in boys (OR = 3.292, 95% CI: 1.139–9.513; P = 0.022. We also found that genotype distributions of both SNPs were different between the Asian and European populations. Conclusions Our results indicated that the TT genotype of rs4565946 is a potential genetic risk factor for TD, and the allele G of rs4570625 might be associated with the severity of tic symptoms in boys. These polymorphisms might be susceptibility loci for TD in the Chinese Han population. Because of the confounding of co-existing attention deficit hyperactivity disorder (ADHD,these findings need to be confirmed by studies in much larger samples.

  7. Analysis of the genotype of diacylglycerol kinase delta single-nucleotide polymorphisms in Parkinson disease in the Han Chinese population

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    Wei Song

    2012-01-01

    Full Text Available Numerous Single-Nucleotide Polymorphisms (SNPs of the Diacylglycerol Kinase Delta (DGKD isoform 1 gene have been associated with Parkinson Disease (PD in the genome-wide association studies of Caucasian population. This association has not been proven in the Han Chinese PD patients. This study included 376 unrelated Han Chinese PD patients from West China and 273 unrelated healthy controls from the same region. Five SNPs (rs2971859, rs1550532, rs2305539, rs2034762, and rs2242102 were genotyped using the Sequenom iPLEX Assay technology. No significant differences were observed in genotype frequencies and in the Minor Allele Frequency (MAF in the five SNPs between PD patients and controls, early-onset PD and controls, late-onset PD and controls, and between early-onset and late-onset PD patients. The present study is the first to report on the lack of association of DGKD SNPs with PD in the Han Chinese population. More related studies involving larger numbers of participants are necessary to confirm the present finding.

  8. Analysis of 24 Y chromosomal STR haplotypes in a Chinese Han population sample from Henan Province, Central China.

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    Shi, Meisen; Liu, Yaju; Zhang, Juntao; Bai, Rufeng; Lv, Xiaojiao; Ma, Shuhua

    2015-07-01

    We analyzed haplotypes for 24 Y chromosomal STRs (Y-STRs), including 17 Yfiler loci (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DY438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y-GATA-H4) and 7 additional STRs (DYS388, DYS444, DYS447, DYS449, DYS522 and DYS527a/b) in 1100 unrelated Chinese Han individuals from Henan Province using AGCU Y24 STR kit systems. The calculated average gene diversity (GD) values ranged from 0.4105 to 0.9647 for the DYS388 and DYS385a/b loci, respectively. The discriminatory capacity (DC) was 72.91% with 802 observed haplotypes using 17 Yfiler loci, by the addition of 7 Y-STRs to the Yfiler system, the DC was increased to 79.09% while showing 870 observed haplotypes. Among the additional 7 Y-STRs, DYS449, DYS527a/b, DYS444 and DYS522 were major contributors to enhancing discrimination. In the analysis of molecular variance, the Henan Han population clustered with Han origin populations and showed significant differences from other Non-Han populations. In the present study, we report 24 Y-STR population data in Henan Han population, and we emphasize the need for adding additional markers to the commonly used 17 Yfiler loci to achieve more improved discriminatory capacity in a population with low genetic diversity. PMID:25864156

  9. Surfactant Protein B 1580 Polymorphism Is Associated with Susceptibility to Chronic Obstructive Pulmonary Disease in Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    胡瑞成; 徐永健; 张珍祥

    2004-01-01

    Summary: Whether surfactant protein B (SP-B)-18A/C and 1580C/T polymorphism were associated with susceptibility to chronic obstructive pulmonary disease (COPD) in Chinese Han population was investigated. After genomic DNA was isolated from blood of COPD smokers and control smokers, the genotypes of SP-B-18A/C and SP-B1580C/T polymorphism loci were determined by polymerase chain reaction restriction fragment length polymorphism analysis (PCR-RFLP) respectively.The results showed that there was significant difference in genotypes distribution frequency of SPB1580C/T polymorphism locus between COPD smokers and control smokers. C→T mutation rate (including TT homozygote and CT heterozygote) in COPD smokers was higher than in control smokers (57.9 % vs 41.7 %, x2 =4.93, P<0.05), whereas there was no significant difference in genotypes distribution frequency of SP-B1580-18A/C locus between COPD smokers and control smokers. The allele frequency (29.1 %) of SP-B1580-18A/C locus is lower than T allele (70.9 %)in Chinese Han Population, and the distribution was different from that in Mexican, in which, the A and T allele frequencies were 85 % and 15 % respectively. It was concluded that SP-B1580 T allele was probably associated with increased susceptibility to COPD in Chinese Han population;The polymorphism of SP-B-18A/C locus maybe varied with race.

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

    Science.gov (United States)

    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

  11. Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.

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    Fuu-Jen Tsai

    Full Text Available Kawasaki disease (KD is an acute systemic vasculitis syndrome that primarily affects infants and young children. Its etiology is unknown; however, epidemiological findings suggest that genetic predisposition underlies disease susceptibility. Taiwan has the third-highest incidence of KD in the world, after Japan and Korea. To investigate novel mechanisms that might predispose individuals to KD, we conducted a genome-wide association study (GWAS in 250 KD patients and 446 controls in a Han Chinese population residing in Taiwan, and further validated our findings in an independent Han Chinese cohort of 208 cases and 366 controls. The most strongly associated single-nucleotide polymorphisms (SNPs detected in the joint analysis corresponded to three novel loci. Among these KD-associated SNPs three were close to the COPB2 (coatomer protein complex beta-2 subunit gene: rs1873668 (p = 9.52×10⁻⁵, rs4243399 (p = 9.93×10⁻⁵, and rs16849083 (p = 9.93×10⁻⁵. We also identified a SNP in the intronic region of the ERAP1 (endoplasmic reticulum amino peptidase 1 gene (rs149481, p(best = 4.61×10⁻⁵. Six SNPs (rs17113284, rs8005468, rs10129255, rs2007467, rs10150241, and rs12590667 clustered in an area containing immunoglobulin heavy chain variable regions genes, with p(best-values between 2.08×10⁻⁵ and 8.93×10⁻⁶, were also identified. This is the first KD GWAS performed in a Han Chinese population. The novel KD candidates we identified have been implicated in T cell receptor signaling, regulation of proinflammatory cytokines, as well as antibody-mediated immune responses. These findings may lead to a better understanding of the underlying molecular pathogenesis of KD.

  12. Association of CTLA-4 gene polymorphisms with sporadic breast cancer in Chinese Han population

    International Nuclear Information System (INIS)

    The host immunogenetic background plays an important role in the development of breast cancer. Cytotoxic T-lymphocyte antigen-4 (CTLA-4) is a molecule expressed predominantly on activated T cells and is important during the down-regulation of T-cell activation. To evaluate the potential influences of CTLA-4 gene polymorphisms on breast cancer risk, a case-control study was conducted in Han women of Northeast China. We genotyped CTLA-4 variants (-1661 G/A, -658 T/C, -318 T/C, +49 G/A and CT60 G/A) to tag all common haplotypes (≥ 1% frequency) in 117 Chinese breast cancer cases and 148 age/sex matched healthy individuals. Genotypes were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Data was analyzed using the Chi-square test and Haploview software. The frequency of CTLA-4 -1661G allele, -318T allele and CT60G allele carriers was significantly higher in patients than in controls (P = 0.0057, OR 1.91, 95% CI 1.21–3.02; P = 0.0031, OR 2.39, 95% CI 1.34–4.27; P = 0.023, OR 1.52, 95% CI 1.06–2.17, respectively). The -658T allele carrier frequency was significantly lower than in controls (P = 0.0000082, OR 0.17, 95% CI 0.08–0.37), whereas the +49A allele was significantly associated with tumor size in patients (P = 0.0033). Two common CTLA-4 haplotypes, ATCGA and ATCAG, were higher in healthy controls than patients (P = 0.0026, OR 0.17, 95% CI 0.05–0.54; P = 0.034, OR 0.12, 95% CI 0.02–0.92, respectively). A strong association was observed between tumor size and the ACCAA, ACCAG and ACCGA haplotypes (P = 0.0032, P = 0.0000031 and P = 0.017). These results suggest that polymorphisms of the CTLA-4 gene may modify individual susceptibility to and progression of breast cancer in Chinese Han women

  13. Frequencies of red blood cell major blood group antigens and phenotypes in the Chinese Han population from Mainland China.

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    Yu, Y; Ma, C; Sun, X; Guan, X; Zhang, X; Saldanha, J; Chen, L; Wang, D

    2016-08-01

    Alloantibodies directed to red blood cell (RBC) antigens play an important role in alloimmune-mediated haemolytic transfusion reactions and haemolytic disease of the foetus and newborn. The frequencies and phenotypes of RBC antigens are different in populations from different geographic areas and races. However, the data on major blood group antigens in the Chinese Han population from Mainland China are still very limited; thus, we aimed to investigate them in this study. A total of 1412 unrelated voluntary Chinese Han blood donors were randomly recruited. All donors were typed for blood group antigens: D, C, c, E, e, C(w) , Jk(a) , Jk(b) ,M, N, S, s, Le(a) , Le(b) , K, k. Kp(a) , Kp(b) , Fy(a) , Fy(b) , Lu(a) , Lu(b) , P1 and Di(a) using serological technology. Calculations of antigen and phenotype frequencies were expressed as percentages and for allele frequencies under the standard assumption of Hardy-Weinberg equilibrium. Amongst the Rh antigens, D was the most common (98.94%) followed by e (92.28%), C (88.81%), c (58.43%), E (50.78%) and C(w) (0.07%) with DCe/DCe (R1 R1 , 40.72%) being the most common phenotype. In the Kell blood group system, k was present in 100% of the donors and a rare phenotype, Kp (a+b+), was found in 0.28% of the donors. For the Kidd and Duffy blood group systems, Jk (a+b+) and Fy (a+b-) were the most common phenotypes (44.05% and 84.35%, respectively). In the MNS blood group system, M+N+S-s+ (45.54%) was the most common, whereas M+N-S-s- and M-N+S-s- were not found. The rare Lu (a-b-) and Lu (a+b+) phenotypes were identified in 0.43% and 1.13% of the donors, respectively. Le(a) and Le(b) were seen in 17.92% and 63.03% of donors, respectively. The frequency of Di(a) was 4.75%, which was higher than in the Chinese population in Taiwan region or the Caucasian and Black populations (P < 0.0001). This study systematically describes the frequencies of 24 blood group antigens in the Chinese Han population from Mainland China. The data can

  14. Association between Polymorphisms in Interleukins 4 and 13 Genes and Chronic Periodontitis in a Han Chinese Population.

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    Chen, Dong; Zhang, Tian-Liang; Wang, Xia

    2016-01-01

    Chronic periodontitis (CP) is one of the most common chronic inflammatory diseases and cytokines play a pivotal role in the regulation of immune response. Interleukin-4 (IL-4) and interleukin-13 (IL-13) are anti-inflammatory cytokines and several polymorphisms of them have been proved involved in periodontal disease. This study aimed to evaluate whether three single nucleotide polymorphisms (SNPs), rs2070874 and rs2243248 from IL4 and rs1800925 from IL13, are associated with CP in a Han Chinese population consisting of 440 moderate or severe CP patients and 324 healthy controls. Genomic DNA extracted from buccal epithelial cells of the included participants were genotyped using a matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry method. No significant association between rs2070874 or rs1800925 and CP was found, while the frequencies of rs2243248 and two haplotypes C-G-T and C-T-T showed significant differences between the two groups. The results suggest that the polymorphism rs2243248 and haplotypes C-G-T and C-T-T may be associated with CP susceptibility in the present Han Chinese population. PMID:27195298

  15. Association between serotonin transporter gene polymorphisms and non-lesional temporal lobe epilepsy in a Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Fengyuan Che; Youyi Wei; Xueyuan Heng; Qingxi Fu; Jianzhang Jiang

    2010-01-01

    Serotonin(5-hydroxytryptamine,5-HT)influences the cortical and subcortical excitatory/inhibitory balance and participates in the pathophysiological processes of epilepsy.The serotonin transporter(5-HTT)is the most important factor in serotonin inactivation.We tested whether 5-HTT polymorphisms are involved in the pathogenesis of epilepsy in Chinese Han population.We did not find a significant difference in the frequencies of genotypes and alleles in the 5-HTT gene-linked polymorphic region(5-HTTLPR)in patients with non-lesional temporal lobe epilepsy and normal controls(P > 0.05).Frequencies of the 5-HTT intren 2 variable number tandem repeat(5-HTTVNTR)12/12 genotype and allele 12 were higher in the patients with non-lesional temporal lobe epilepsy than normal controls(P < 0.01).The odds ratio of affecting non-lesional temporal lobe epilepsy was1.435(95% Cl,1.096 1.880)in patients carrying allele 12(P < 0.05).Although the 5-HTFLPR may not be a genetic locus of non-lesional temporal lobe epilepsy in Chinese Han population,allele 12 in the 5-HTFVNTR may correlate with non-lesional temporal lobe epilepsy.The Stin2.12 allele and12/12 genotype could be predisposing to non-lesional temporal lobe epilepsy.

  16. The analysis of mitochondrial DNA haplogroups and variants for in vitro fertilization failure in a Han Chinese population.

    Science.gov (United States)

    Mao, Genhong; Lu, Ping; Huang, Xiao-Hui; Wang, Wu-Liang; Tao, Shi-Bo; Li, Qian; Wang, Xiao-Ling; Wang, Ya-Nan

    2016-07-01

    In this study, we aimed to investigate the associations of mitochondrial DNA (mtDNA) haplogroups and variants with in vitro fertilization (IVF) failure. A retrospective, comparative study of 260 fresh IVF cycles in a Han Chinese population was performed from July 2011 to April 2014. Seventy-three couples had low fertilization rates (≤30%) or total fertilization failure, and 187 controls with normal fertilization were included. Human sperm mtDNA haplogroups and variants were determined by polymerase chain reaction (PCR), nested PCR and direct sequencing. One unreported point variant, A15397G, and two novel deletions at positions 8270-8278 and 8276-8284 were found in this study. A homozygous variant, G9053A in MT-ATP6, was detected in 4 of the 73 cases with fertilization failure, whereas this substitution was not detected in the control group (p IVF failure group was markedly lower than that in the control group (p IVF failure group were also markedly lower than those in the control group (p IVF failure group than in the control group (p IVF failure, but the 10397 homozygous variant in MT-ND3 might help decrease the risk of developing IVF failure. Furthermore, this study indicated that men with haplogroup Z might inherit a higher risk of IVF failure in the Han Chinese population. PMID:26242719

  17. Association between Polymorphisms in Interleukins 4 and 13 Genes and Chronic Periodontitis in a Han Chinese Population

    Science.gov (United States)

    Chen, Dong; Zhang, Tian-liang; Wang, Xia

    2016-01-01

    Chronic periodontitis (CP) is one of the most common chronic inflammatory diseases and cytokines play a pivotal role in the regulation of immune response. Interleukin-4 (IL-4) and interleukin-13 (IL-13) are anti-inflammatory cytokines and several polymorphisms of them have been proved involved in periodontal disease. This study aimed to evaluate whether three single nucleotide polymorphisms (SNPs), rs2070874 and rs2243248 from IL4 and rs1800925 from IL13, are associated with CP in a Han Chinese population consisting of 440 moderate or severe CP patients and 324 healthy controls. Genomic DNA extracted from buccal epithelial cells of the included participants were genotyped using a matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry method. No significant association between rs2070874 or rs1800925 and CP was found, while the frequencies of rs2243248 and two haplotypes C-G-T and C-T-T showed significant differences between the two groups. The results suggest that the polymorphism rs2243248 and haplotypes C-G-T and C-T-T may be associated with CP susceptibility in the present Han Chinese population. PMID:27195298

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

    Science.gov (United States)

    Yang, Qin; Guo, Zhi-Bao

    2016-07-01

    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. PMID:26000911

  19. Relationship between β3-AR Gene and Obesity, Type 2 Diabetes, Insulin Resistance in Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    HEWei; MAXiang-hua; SHENJie

    2004-01-01

    Objective: To explore the relationship between the β3-adrenergic receptor(β3-AR)gene and obesity, T2DM. insulin resistance in Chinese Han population. Methods: Fifty-three healthy subjects, 105 subjects with simple obesity, 63 type 2 diabetic patients without obesity, and 114 type 2 diabetic patients with obesity were studied with the technique of PCR-RFLP in codon 64 of the exon region of β3-AR gene representing the variation Trp/Arg. Results:Compared with the subjects of Trp homozygous group, the individuals with Arg allele were more elevated in WHR,MBP,SBP,DBP,FBS,PBS, FINS,PINS, FCP,PCP and lower in ISI. Frequency of Arg allele was higher in HINS sub-group without T2DM. Cnclusion: The results indicate that the Trp/Arg variation might lead to insulin resistance, obesity and T2DM.β3-AR gene is supposed to be the candidate gene of insulin resistance, obesity and T2DM in ChineseHan population.

  20. Association between polymorphisms of the IL-23R gene and allergic rhinitis in a Chinese Han population.

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    Di Hu

    Full Text Available OBJECTIVE: Polymorphism of the interleukin-23 receptor gene corresponds with susceptibility to several immune-related diseases. For the terminal differentiation of IL-17-producing effector T-helper cells in vivo, the interleukin-23 receptor gene is of vital importance. As shown recently, Th17 cells probably have a great influence on the pathogenesis of allergic airway diseases. Our intention was to establish an association between polymorphisms in the IL-23R gene and allergic rhinitis (AR in the Chinese Han population. METHODS: We included 358 AR patients and 407 control Chinese subjects in a case-control comparison. The study involved obtaining blood samples for DNA extraction genotyping and determination of 4 selected single-nucleotide polymorphisms in IL-23R by performing PCR restriction fragment length polymorphism analysis (PCR-RFLP. RESULTS: A substantially growing prevalence of the homozygous rs7517847 GG genotype and G allele appeared in the AR patients unlike that observed in the control individuals (P<0.001. In addition, substantially high frequencies of the GGCA and GGCG haplotypes were observed in the AR patients, unlike that observed in the control individuals (P<0.05. The results suggest that the AGTG haplotype may provide protection against AR (P<0.001. CONCLUSIONS: To the best of our knowledge, this is the first study to demonstrate an important association between polymorphisms in IL-23R and AR in the Chinese Han population. A strong association between rs7517847 in a SNP of IL-23R, and AR was identified.

  1. Association of MDR1 gene polymorphisms with the risk of hepatocellular carcinoma in the Chinese Han population

    International Nuclear Information System (INIS)

    The multidrug resistance 1 gene (MDR1) is an important candidate gene for influencing susceptibility to hepatocellular carcinoma (HCC). The objective of the present study was to evaluate the association of MDR1 polymorphisms with the risk of HCC in the Chinese Han population. A total of 353 HCC patients and 335 healthy subjects were enrolled in the study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), created restriction site-PCR (CRS-PCR) and DNA sequencing methods were used to identify MDR1 gene polymorphisms. Two allelic variants (c.335T>C and c.3073A>C) were detected. The CC genotype of the c.335T>C polymorphism was associated with an increased risk of developing HCC compared to the TT genotype (OR = 2.161, 95%CI = 1.350-3.459, χ2 = 10.55, P = 0.0011). The risk of HCC was significantly higher for the CC genotype in the c.3073A>C polymorphism compared to the AA genotype in the studied populations (CC vs AA: OR = 2.575, 95%CI = 1.646-4.028, χ2 = 17.64, P < 0.0001). The C allele of the c.335T>C and c.3073A>C variants may contribute to the risk of HCC (C vs T of c.335T>C: OR = 1.512, 95%CI = 1.208-1.893, χ2 = 13.07, P = 0.0003, and C vs A of c.3073A>C: OR = 1.646, 95%CI = 1.322-2.049, χ2 = 20.03, P < 0.0001). The c.335T>C and c.3073A>C polymorphisms of the MDR1 gene were associated with the risk of occurrence of HCC in the Chinese Han population. Further investigations are needed to confirm these results in larger different populations

  2. Association of HLA-DQ with Idiopathic Dilated Cardiomyopathy in a Northern Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    WeiLiu; WeiminLi; NinglingSun

    2004-01-01

    Autoimmune mechanisms are likely involved in the pathogenesis of idiopathic dilated cardiomyopathy (IDC) and components of MHC may serve as markers for the propensity to develop immune-mediated myocardial damage. This study was conducted to investigate the possible association between HLA-DQA1, -DQB1 alleles and IDC in Han population from northern China by using PCR-based sequence-specific primer (PCR-SSP) technique for HLA genotyping. Among 68 unrelated IDC patients, 4 probands of IDC pedigrees and 100 healthy controls, we found that the alleles of HLA-DQAI*0501 and HLA-DQBI*0303 conferred susceptibility to IDC while HLA-DQAI*0201 and HLA-DQBI*0502, *0504 alleles were in negative association with IDC. The serine at position 57 (SERs7) in the exon of HLA-DQBI*0502 and *0504 was confirmed in our experiment as a marker for resistance to IDC. The results suggest that HLA-DQ polymorphism may be involved in the pathogenesis of IDC. Cellular & Molecular Immunology.

  3. Association of HLA-DQ with Idiopathic Dilated Cardiomyopathy in a Northern Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    Wei Liu; Weimin Li; Ningling Sun

    2004-01-01

    Autoimmune mechanisms are likely involved in the pathogenesis of idiopathic dilated cardiomyopathy (IDC) and components of MHC may serve as markers for the propensity to develop immune-mediated myocardial damage. This study was conducted to investigate the possible association between HLA-DQA1, -DQB1 alleles and IDC in Han population from northern China by using PCR-based sequence-specific primer (PCR-SSP) technique for HLA genotyping. Among 68 unrelated IDC patients, 4 probands of IDC pedigrees and 100 healthy controls, we found that the alleles of HLA-DQA1*0501 and HLA-DQB1*0303 conferred susceptibility to IDC while HLA-DQA1*0201 and HLA-DQB1*0502, *0504 alleles were in negative association with IDC. The serine at position 57 (SER57) in the exon of HLA-DQB1*0502 and *0504 was confirmed in our experiment as a marker for resistance to IDC. The results suggest that HLA-DQ polymorphism may be involved in the pathogenesis of IDC.

  4. The Association Study between Twenty One Polymorphisms in Seven Candidate Genes and Coronary Heart Diseases in Chinese Han Population.

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    Barrak F Alobeidy

    Full Text Available Previous genome-wide association studies (GWAS in multiple populations identified several genetic loci for coronary heart diseases (CHD. Here we utilized a 2-stage candidate gene association strategy in Chinese Han population to shed light on the putative association between several metabolic-related candidate genes and CHD. At the 1(st stage, 190 patients with CHD and 190 controls were genotyped through the MassARRAY platform. At the 2(nd stage, a larger sample including 400 patients and 392 controls was genotyped by the High Resolution Melt (HRM method to confirm or rule out the associations with CHD. MLXIP expression level was quantified by the real time PCR in 65 peripheral blood samples. From the 21 studied single nucleotide polymorphisms (SNPs of seven candidate genes: MLXIPL, MLXIP, MLX, ADIPOR1, VDR, SREBF1 and NR1H3, only one tag SNP rs4758685 (T→C was found to be statistically associated with CHD (P-value = 0.02, Odds ratio (OR of 0.83. After adjustment for the age, sex, lipid levels and diabetes, the association remained significant (P-value = 0.03. After adjustment for the hypertension, P-value became 0.20 although there was a significant difference in the allele distribution between the CHD patients with hypertension and the controls (P-value = 0.04, 406 vs 582. In conclusion, among the 21 tested SNPs, we identified a novel association between rs4758685 of MLXIP gene and CHD. The C allele of common variant rs4758685 interacted with hypertension, and was found to be protective against CHD in both allelic and genotypic models in Chinese Han population.

  5. IFNG polymorphisms are associated with tuberculosis in Han Chinese pediatric female population.

    Science.gov (United States)

    Shen, Chen; Jiao, Wei-Wei; Feng, Wei-Xing; Wu, Xi-Rong; Xiao, Jing; Miao, Qing; Sun, Lin; Wang, Bin-Bin; Wang, Jing; Liu, Fang; Shen, Dan; Shen, A-Dong

    2013-09-01

    Host genetic factors play a major role in determining differential susceptibility to human tuberculosis (TB), a re-emerging infectious disease throughout the world. Genetic variations in the IFNG gene coding for interferon gamma (IFN-γ), have been identified in TB patients. To investigate the association of the IFNG polymorphisms with TB susceptibility in Chinese pediatric population. A case-control study of 189 TB patients and 164 controls was performed using single-nucleotide polymorphism (SNP) analysis. Genomic DNA was extracted from leukocytes in peripheral blood. Three SNPs of IFNG, including -1616C/T (rs2069705), +874A/T (rs2430561), and +3234C/T (rs2069718), were selected for genotyping and analysis. The +874A and +3234C alleles were more frequent among TB patients (P = 0.108 and P = 0.088), especially in females (both P = 0.029), although this difference was not significant since Bonferroni corrected significance threshold was 0.025 (two of three SNPs were found to be in linkage disequilibrium). More pronounced differences for the +874 and +3234 polymorphisms were found under the genotype comparison between TB cases and controls in the total population [P = 0.026 (borderline non-significance) and P = 0.020, respectively], and in the female subgroup (P = 0.020 and P = 0.020). The dominant model of inheritance was shown to be significant for +874A and +3234C alleles (both P = 0.019) in the female subgroup. The +874A and +3234C alleles were more frequently found in extrapulmonary TB patients than in controls (P = 0.039). Haplotype analysis carried out on these three SNPs showed the TTT haplotype to be more frequent in controls than in TB cases, and this difference showed a strong significance (P = 0.005). The +874A and +3234C alleles may be related to TB susceptibility in the female subgroup in the Chinese pediatric population of North China. The higher rate of +874A (known to correlate with lower IFN-γ expression) in the extrapulmonary

  6. Transmission of NOTCH4 and GRIK2 in a population of Han Chinese with schizophrenia and affective disorder

    Institute of Scientific and Technical Information of China (English)

    Zuowei Wang; Yiru Fang; Shaoping Zhang; Shunying Yu; Sanduo Jiang

    2008-01-01

    BACKGROUND: Increasing evidence suggests overlapped genetic susceptibility across traditional classification systems that divided psychotic disorders into schizophrenia or affective disorder.OBJECTIVE: This study aimed to explore whether schizophrenia and affective disorder share genetic susceptibility in NOTCH4 and GRIK2 loci in a population of Han Chinese. DESIGN: Repetitive measurements.SETTING: The experiment was carried out at Shanghai Mental Health Center and Hongkou Mental Health Center of Shanghai between January 2001 and June 2004.PARTICIPANTS: Sixty-five mixed pedigrees (suffering from various diseases, in combination with schizophrenia and affective disorder), composed of 45 completed trios and 20 single-parent families, were selected from Shanghai Mental Health Center and Hongkou Mental Health Center of Shanghai between January 2001 and June 2004. Probands received clinical diagnosis according to ICD-10; an independent clinician used identical criteria to review all diagnoses. All subjects were Han Chinese in origin and provided informed consent. There were 65 probands and 110 parents among the subjects. The probands comprised 30 males and 35 females: 33 with schizophrenia, 32 with affective disorder, mean age of (30.9 ± 9.8) years, mean age of onset (24.3 ± 8.8) years, mean duration (6.6 ± 7.0) years, and mean age of parents (58.8 ± 10.9) years.METHODS: DNA samples from probands and their biological parents were extracted from peripheral blood according to standard methods. Four polymorphisms, -1725T/G and -25T/C in NOTCH4, rs6922753T/C and rs2227283G/A in GRIK2, were amplified and genotyped with PCR-RFLP techniques. MAIN OUTCOME MEASURES: Association between NOTCH4, GRIK2 polymorphism, and schizophrenia was analyzed by transmission disequilibrium test (TDT).RESULTS: Sixty-five probands and 110 parents were included in the result analysis, with no dropouts. The results showed that the -25T/C polymorphism of NOTCH4 associated significantly with

  7. Association of Adiponectin SNP+45 and SNP+276 with Type 2 Diabetes in Han Chinese Populations: A Meta-Analysis of 26 Case-Control Studies

    OpenAIRE

    Yiping Li; Xianli Li; Li Shi; Man Yang; Ying Yang; Wenyu Tao; Lei Shi; Yuxin Xiong; Ying Zhang; Yufeng Yao

    2011-01-01

    Recently, many studies have reported that the SNP+45(T>G) and SNP+276(G>T) polymorphisms in the adiponectin gene are associated with type 2 diabetes (T2DM) in the Chinese Han population. However, the previous studies yielded many conflicting results. Thus, a meta-analysis of the association of the adiponectin gene with T2DM in the Chinese Han population is required. In the current study, we first determined the distribution of the adiponectin SNP+276 polymorphism in T2DM and nondiabetes (NDM)...

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

    Institute of Scientific and Technical Information of China (English)

    KE; Yuehai

    2001-01-01

    [1]Cann, R. L., Stoneking, M., Wilson, A. C., Mitochondria DNA and human evolution, Nature, 1987, 325: 31-36.[2]Vigilant, L., Stoneking, M., Harpending, H. et al., African populations and the evolution of human mitochondrial DNA, Science, 1997, 253: 1503-1507.[3]Cavalli-Sforza, L. L., Piazza, M. P., The History and Geography of Human Genes, Princeton: Princeton University Press, 1994.[4]Brooks, A. S., Wood, B., Paleoanthropology, The Chinese side of the story, Nature, 1990, 344: 288-289.[5]Li, T., Etler, D. A., New middle Pleistocene hominid crania from Yunxian in China, Nature, 1992, 357: 404-407.[6]Wu, X. Z., Poirier, F. E., Human Evolution in China, Oxford: Oxford University Press, 1995.[7]Etler, D. A., The fossil evidence for human evolution in Asia, Annu. Rev. Anthropol., 1996, 25: 275-301.[8]Wolpoff, M. H., Interpretations of multiregional evolution, Science, 1996, 274: 704-707.[9]Stringer, C. B., Andrew, P., Genetic and fossil evidence for the origin of modern humans, Science ,1988, 239: 1263-1268.[10]Wilson, A. C.,Cann, R. L., The recent African genesis of humans, Scientific American, 1992, (4): 68-75.[11]Weng, Z., Yuan, Y., Du, R., Analysis of the genetic structure of human populations in China, Acta Anthropol. Sin. (in Chi-nese)1989, 8: 261-268.[12]Zhao, T., Zhang, G., Zhu, Y. et al., The distribution of immunoglobulin Gm allotypes in forty Chinese populations, Acta Anthropol. Sin. (in Chinese), 1986, 6: 1-8.[13]Chu, J. Y., Huang, W., Kuang, S. Q. et al., Genetic relationship of populations in China, Proc. Natl. Acad. Sci., 1998, 95: 11763-11768.[14]Jobling, M. A., Tyler-Smith, C., Fathers and sons: the Y chromosome and human evolution, Trends in Genetics,1995, 11: 449-455.[15]Oefner, P. J., Underhill, P. A., Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC), Am. J. Hum. Genet., 1995, 57: A266.[16]Oefner, P. J., Underhill, P. A., DNA mutation detection

  9. Insight into the Spectrum of Coronary Atherosclerosis in Asymptomatic Urban Han Chinese Population by Coronary Computed Tomography Angiography

    Science.gov (United States)

    Li, Jiangbing; Liu, Ruihong; Ji, Xiaokang; Xue, Hao; Zhang, Guang; Wang, Chunxia; Chen, Qicai; Xue, Fuzhong; Cui, Lianqun

    2015-01-01

    Objectives Highlighted the spectrum of coronary atherosclerosis in asymptomatic population by Computed Tomography Angiography (CTA) and developed a surrogation of expensive CTA to early detect coronary atherosclerosis. Methods Three hundred and seven self-referred urban Han Chinese asymptomatic individuals underwent coronary CTA were consecutively enrolled. Total plaque score (TPS), Segment stenosis score (SSS) and Coronary Artery Disease severity (CADS) were used to measure and illustrate the spectrum of atherosclerosis burden by mapping their incidence and proportion onto coronary artery tree. Logistic regression model was further used to explore the association between lipid biomarkers and TPS (SSS) for developing a surrogation of CTA to early detect coronary atherosclerosis. Results We found that the incidence of TPS, SSS and CADS were up to 71.34%, 68.08%, and 71.34%; and high-risk individuals reached up to 11.07%, 15.31% and 16.29% respectively. All TPS, SSS and CADS were much higher in male than female, and have trend of increasing with age. The most lesion segment emerged on proximal LAD, followed by proximal RCA, mid LAD, proximal LCX, and mid RCA with mixed plaque as dominant. HDL-C was a predictor to both TPS [OR: 0.12 (0.02–0.82)] and SSS [OR: 0.15 (0.03–0.76)], and could identify the serious atherosclerosis subjects of TPS or SSS score >5 (AUC 0.73 and 0.70). Conclusions The atherosclerosis plaque burden was about one in ten as high-risk individuals in this specific urban Han Chinese population. As potential surrogation of CTA, HDL-C was recognized as a significant predictor to atherosclerosis burden and revealed a good performance for identifying high-risk individuals. PMID:26151132

  10. Insight into the Spectrum of Coronary Atherosclerosis in Asymptomatic Urban Han Chinese Population by Coronary Computed Tomography Angiography.

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    Jiangbing Li

    Full Text Available Highlighted the spectrum of coronary atherosclerosis in asymptomatic population by Computed Tomography Angiography (CTA and developed a surrogation of expensive CTA to early detect coronary atherosclerosis.Three hundred and seven self-referred urban Han Chinese asymptomatic individuals underwent coronary CTA were consecutively enrolled. Total plaque score (TPS, Segment stenosis score (SSS and Coronary Artery Disease severity (CADS were used to measure and illustrate the spectrum of atherosclerosis burden by mapping their incidence and proportion onto coronary artery tree. Logistic regression model was further used to explore the association between lipid biomarkers and TPS (SSS for developing a surrogation of CTA to early detect coronary atherosclerosis.We found that the incidence of TPS, SSS and CADS were up to 71.34%, 68.08%, and 71.34%; and high-risk individuals reached up to 11.07%, 15.31% and 16.29% respectively. All TPS, SSS and CADS were much higher in male than female, and have trend of increasing with age. The most lesion segment emerged on proximal LAD, followed by proximal RCA, mid LAD, proximal LCX, and mid RCA with mixed plaque as dominant. HDL-C was a predictor to both TPS [OR: 0.12 (0.02-0.82] and SSS [OR: 0.15 (0.03-0.76], and could identify the serious atherosclerosis subjects of TPS or SSS score >5 (AUC 0.73 and 0.70.The atherosclerosis plaque burden was about one in ten as high-risk individuals in this specific urban Han Chinese population. As potential surrogation of CTA, HDL-C was recognized as a significant predictor to atherosclerosis burden and revealed a good performance for identifying high-risk individuals.

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

    Science.gov (United States)

    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. Autism Res 2016, 9: 436-442. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. PMID:26285919

  12. Association between polymorphisms of the IKZF3 gene and systemic lupus erythematosus in a Chinese Han population.

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    Xinze Cai

    Full Text Available OBJECTIVE: It has been reported that IKAROS family of zinc finger 3 (IKZF3-deficient mice spontaneously develop human systemic lupus erythematosus (SLE-like phenotypes and produce anti-dsDNA Ab leading to immune complex-mediated glomerulonephritis. Polymorphism of the IKZF3 gene corresponds with the susceptibility to several immune-related diseases. Our intention was to establish an association between polymorphisms in the IKZF3 gene and SLE in the Chinese Han population. METHODS: The study involved obtaining blood samples for DNA extraction and genotyping the 4 selected single-nucleotide polymorphisms (SNPs in IKZF3, including rs12150079, rs9909593, rs907091, and rs2872507, by performing PCR restriction fragment length polymorphism analysis (PCR-RFLP. A group of 366 SLE patients were compared to 455 healthy controls. RESULTS: A significant decrease in frequencies of the rs907091 CC genotype and C allele appeared in the SLE patients unlike that observed in the controls (p = 0.001 and 0.015, respectively. The frequencies of the rs12150079 genotype and allele were different between the SLE patients and the control individuals, although the significance was only marginal (p = 0.046 and 0.049, respectively. In addition, a significantly low frequency of the GGCG haplotype was observed in the SLE patients, suggesting that it may provide protection against SLE (p = 0.011. CONCLUSION: To the best of our knowledge, this is the first study to demonstrate an important association between polymorphisms in IKZF3 and SLE in the Chinese Han population. A strong association between rs907091 in the IKZF3 gene and SLE was identified.

  13. A TagSNP in SIRT1 gene confers susceptibility to myocardial infarction in a Chinese Han population.

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    Jie Cheng

    Full Text Available SIRT1 exerts protective effects against endothelial cells dysfunction, inflammation and atherosclerosis, indicating an important role on myocardial infarction (MI pathogenesis. Nonetheless, the effects of SIRT1 variants on MI risk remain poorly understood. Here we aimed to investigate the influence of SIRT1 polymorphisms on individual susceptibility to MI. Genotyping of three tagSNPs (rs7069102, rs3818292 and rs4746720 in SIRT1 gene was performed in a Chinese Han population, consisting of 287 MI cases and 654 control subjects. In a logistic regression analysis, we found that G allele of rs7069102 had increased MI risk with odds ratio (OR of 1.57 [95% confidence interval (CI = 1.15-2.16, Bonferroni corrected P (Pc = 0.015] after adjustment for conventional risk factors compared to C allele. Similarly, the combined CG/GG genotypes was associated with the increased MI risk (OR = 1.64, 95% CI = 1.14-2.35, Pc = 0.021 compared to the CC genotype. Further stratified analysis revealed a more significant association with MI risk among younger subjects (≤ 55 years old. Consistent with these results, the haplotype rs7069102G-rs3818292A-rs4746720T containing the rs7069102 G allele was also associated with the increased MI risk (OR = 1.41, 95% CI = 1.09-1.84, Pc = 0.040. However, we did not detect any association of rs3818292 and rs4746720 with MI risk. Our study provides the first evidence that the tagSNP rs7069102 and haplotype rs7069102G-rs3818292A-rs4746720T in SIRT1 gene confer susceptibility to MI in the Chinese Han population.

  14. Allelic distributions of CYP2D6 gene copy number variation in the Eastern Han Chinese population

    Institute of Scientific and Technical Information of China (English)

    Hai-hui SHENG; Yun-lan DU; Jian SUN; Hua-sheng XIAO; Ai-ping ZENG; Wen-xiang ZHU; Ren-fang ZHU; Hong-mei LI; Zhi-dong ZHU; Ying QIN; Wei JIN; Yan LIU

    2007-01-01

    Aim: The human cytochrome P450 2D6 (CYP2D6) gene copy number variation, involving CYP2D6 gene deletion (CYP2D6*5) and duplication or multiduplication (CYP2D6*×N), can result in reduced or increased metabolism of many clinically used drugs. The identification of CYP2D6*5 and CYP2D6*×N and the investigation of their allelic distributions in ethnic populations can be important in deter-mining the right drug and dosage for each patient. Methods: The CYP2D6*5 andCYP2D6 genes, and CYP2D6 gene duplication were identified by 2 modified long PCR, respectively. To determine duplicated alleles, a novel long PCR was developed to amplify the entire duplicated CYP2D6 gene which was used as template for subsequent PCR amplification. A total of 363 unrelated Eastern Han Chinese individuals were analyzed for CYP2D6 gene copy number variation. Results: The frequency of CYP2D6*5 and CYP2D6*×N were 4.82% (n=35) and 0.69% (n=5) in the Eastern Han Chinese population, respectively. Of the 5 duplicated alleles, 3were CYP2D6*1×N and 2 were CYP2D6*10×N. One individual was a carrier of both CYP2D6*5 and CYP2D6*1×N. Taken together, the CYP2D6 gene rear-rangements were present in 10.74% of subjects. Conclusion: Allelic distributions of the CYP2D6 gene copy number variation differ among Chinese from different regions, indicating ethnic variety in Chinese. Long PCR are convenient, cost effective, specific and semiquantitative for the detection of the CYP2D6 gene copy number variation, and amplification of the entire duplicated CYP2D6 gene is necessary for the accurate identification of duplicated alleles.

  15. CHRNA3 Polymorphism Modifies Lung Adenocarcinoma Risk in the Chinese Han Population

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    Ping He

    2014-03-01

    Full Text Available Recent genome-wide association studies (GWASs have identified 15q25.1 as a lung cancer susceptibility locus. Here, we sought to explore the direct carcinogenic effects of genetic variants in this region on the risk of developing lung adenocarcinoma (ADC. Five common SNPs (rs8034191, rs16969968, rs1051730, rs938682, and rs8042374 spanning the 15q25.1 locus were assayed in a case-control study examining a cohort of 301 lung ADCs and 318 healthy controls. Stratification analysis by gender, smoking status, and tumor, node, metastasis (TNM classification, was performed. In addition, sections from ADC tissue and normal tissue adjacent to tumors were stained with an anti-CHRNA3 (cholinergic receptor nicotinic α3 antibody by immunohistochemistry in 81 cases. Our results demonstrate that rs8042374, a variant of the CHRNA3 gene, is associated with an increased risk of ADC with an OR of 1.76 (95% CI: 1.17–2.65, p = 0.024. This variant was linked to a greater risk of ADC in female nonsmokers (OR (95% CI: 1.81 (1.05–3.12, p = 0.032 and female stage I + II cases (OR (95% CI: 1.92 (1.03–3.57, p = 0.039. Although located within the same gene, rs938682 showed protective effects for smokers, stage III + IV cases, and male stage III + IV cases. Additionally, the CHRNA3 protein level in ADC tissue was slightly higher than in the surrounding normal lung tissue, based on immunohistochemical analysis. Our results suggest that the CHRNA3 polymorphism functions as a genetic modifier of the risk of developing lung ADC in the Chinese population, particularly in nonsmoking females.

  16. Distributive characteristics of Ser49Gly and Gly389Arg genetic polymorphisms of β1-adrenoceptor in Chinese Han and Dai populations

    Institute of Scientific and Technical Information of China (English)

    Zhao-qian LIU; Hong-hao ZHOU; Jie LIU; Zhi-hua XIANG; Min-yu HU; Wei MO; Lian-sheng WANG; Dong-sheng OU-YANG; Nan HE; Dan WANG

    2006-01-01

    Aim: Genetic polymorphisms causing Ser49Gly and Gly389Arg mutants of β1-adrenoceptor may result in significant changes in the function of this receptor.The aim of the present study was to investigate the frequencies of the Ser49Gly and Gly389Arg mutant alleles in healthy Chinese populations and to investigate the differences between 2 Chinese ethnic groups (Han and Dai populations) with respect to the frequencies of these alleles. Methods: A total of 225 Han Chinese and 175 Dai Chinese unrelated healthy volunteers were recruited for this study.Genomic DNA was extracted from peripheral blood leukocytes by using a standard manual chloroform-phenol extraction. Fragments spanning the 2 polymorphisms were amplified by using polymerase chain reaction with template genomic DNA and relevant primers. The DNA products including the polymorphic loci were subjected to restriction endonuclease digestion with Eco0l09I and BcgI.Digested fragments were detected with an ultraviolet detector after electrophoresis (100 V for approximately 1.5 h). Results: The frequencies of the Gly49 and Arg389 alleles were, respectively, 16.2% and 76.4% in the Han population and 14.6%and 75.7% in the Dai population. Conclusion: The polymorphisms causing the Ser49Gly and Gly389Arg mutations of the β1-adrenoceptor existed in both healthy Han and Dai Chinese populations. The frequencies of the Ser49Gly and Gly389Arg mutant alleles were not significantly different in the Han and Dai populations.However, the frequency of the Gly389 variant seems to be significantly lower in these 2 populations than in an African-American population.

  17. Chromosome 9p21 and ABCA1 Genetic Variants and Their Interactions on Coronary Heart Disease and Ischemic Stroke in a Chinese Han Population

    OpenAIRE

    Xiao-Li Cao; Rui-Xing Yin; Feng Huang; Jin-Zhen Wu; Wu-Xian Chen

    2016-01-01

    The single nucleotide polymorphisms (SNPs) related to both coronary heart disease (CHD) and ischemic stroke (IS) in Chinese individuals have not been identified definitely. This study was developed to evaluate the genetic susceptibility to CHD and IS on the chromosome 9p21 and the adenosine triphosphate (ATP)-binding cassette transporter A1 genes (ABCA1) in a Chinese Han population. Genotypes of the rs1333040, rs1333042, rs4977574, rs2066715 and rs2740483 SNPs were determined in 1134 unrelate...

  18. The dopamine beta-hydroxylase gene polymorphism rs1611114 is associated with schizophrenia in the Chinese Zhuang but not Chinese Han population.

    Science.gov (United States)

    Long, Jianxiong; Huang, Guifeng; Liang, Baoyun; Ling, Weijun; Guo, Xiaojing; Jiang, Juan; Su, Li

    2016-10-01

    Schizophrenia (SCZ) is a devastating neurodevelopmental disorder. However, the mechanism underlying this highly heritable disorder remains unclear. The dopamine beta-hydroxylase (DBH) gene encodes a key metabolic enzyme of dopamine. Consequently, DBH is considered a candidate gene for SCZ. However, previous studies on its association with SCZ susceptibility have shown conflicting results. Here, we examined association between the rs1611114 polymorphism of DBH and SCZ susceptibility and related clinical symptoms. A total of 691 SCZ patients and 698 age- and gender-matched healthy controls were examined. mRNA expression levels of DBH were measured by quantitative real-time polymerase chain reaction, and the rs1611114 polymorphism was genotyped using the Sequenom MassARRAY platform. Also, the Positive and Negative Syndrome Scale (PANSS) was used to assess SCZ clinical symptoms. Our results show lower DBH mRNA expression levels in SCZ patients than healthy controls (Zhuang: p = 0.000; Han: p = 0.037). Interestingly, the rs1611114 polymorphism was significantly associated with SCZ susceptibility (overdominant model: p = 0.010) in only the Chinese Zhuang population. Furthermore, the rs1611114 polymorphism was associated with PANSS total score (allele T/C: p = 0.015) and general psychopathology score (allele T/C: p = 0.027) in Chinese Zhuang SCZ patients. These results suggest that the DBH gene may play an important role in the occurrence of SCZ. Also, rs1611114 may be associated with SCZ susceptibility and related clinical symptoms in the Chinese Zhuang but not Han Chinese population. Further studies with larger samples of different ethnicities are needed to confirm the role of DBH in SCZ. PMID:27236774

  19. Systematic functional study of cytochrome P450 2D6 promoter polymorphisms in the Chinese Han population.

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    Xueli Gong

    Full Text Available The promoter polymorphisms of drug-metabolizing genes can lead to interindividual differences in gene expression, which may result in adverse drug effects and therapeutic failure. Based on the database of CYP2D6 gene polymorphisms in the Chinese Han population established by our group, we functionally characterized the single nucleotide polymorphisms (SNPs of the promoter region and corresponding haplotypes in this population. Using site-directed mutagenesis, all the five SNPs identified and ten haplotypes with a frequency equal to or greater than 0.01 in the population were constructed on a luciferase reporter system. Dual luciferase reporter systems were used to analyze regulatory activity. The activity produced by Haplo3(-2183G>A, -1775A>G, -1589G>C, -1431C>T, -1000G>A, -678A>G, Haplo8(-2065G>A, -2058T>G, -1775A>G, -1589G>C, -1235G>A, -678A>G and MU3(-498C>A was 0.7-, 0.7-, 1.2- times respectively compared with the wild type in human hepatoma cell lines(p<0.05. These findings might be useful for optimizing pharmacotherapy and the design of personalized medicine.

  20. Association analysis between HOXD9 genes and the development of developmental dysplasia of the hip in Chinese female Han population

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    Tian Wei

    2012-04-01

    Full Text Available Abstract Background Developmental dysplasia of the hip (DDH is a congenital or acquired deformation or misalignment of the hip joint which affects mainly females. We hypothesized that HOXD9 gene could be regulated in acetabular size or shape and related in DDH developing. Methods Two hundred and nine Chinese Han female DDH patients and 173 ethnic, age matched healthy female controls were genotyped for HOXD9 two tag SNPs using sequenom method. Results One of the two tag SNPs, rs711822, was not shown significantly differences in genotypic or allelic distribution between case and control group. Comparing the genotypic distribution of rs711819, there was significant differences between DDH patients group and control group (χ2 = 7.54, df =2, P =0.023, and the association to DDH developing reached significance (P =0.045, OR =1.79, 95 % CI: 1.01-3.17 by dominant mode. Conclusion In conclusion, the association between one tag SNP of HOXD9 gene and the development of DDH reach significant in our study population, this result indicate the positive correlation between HOXD9 gene and DDH developing. Further study in larger sample size and different population as well as functional studies will help to understand the pathogenesis of DDH.

  1. Correlation between human seizure-related gene 6 variants and idiopathic generalized epilepsy in a Southern Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Jianming Jiang; Zhenfang Du; Xianning Zhang; Xiaoling Chen; Wenting Liu; Yan Zhao; Yangtai Guan; Yan Han; Feng Wang; Jiajun Lu; Zhiliang Yu

    2012-01-01

    This study sought to analyze the genotype and gene mutations of human seizure-related gene 6 in 98 patients with idiopathic generalized epilepsy (non-febrile seizures), who were selected from three generations of the Chinese Han population living in Shanghai, Zhejiang Province, Wuxi of Jiangsu Province, and Jiangxi Province of Southern China. Twenty-six patients' parents were available as a first-degree relatives group and 100 biologically unrelated healthy controls were collected as the control group. Based on the age of onset and seizure type, the patients were divided into six subgroups. Polymerase chain reaction and DNA direct sequencing analysis showed that the most frequent mutations c.1249dupC (p.Gly418Argfx31) and c.1636A > G (p.Thr546Ala) were detected in some idiopathic generalized epilepsy patients and their asymptomatic first-degree relatives (30.6% vs. 19.2% and 11.2% vs. 26.9%). A novel mutation c.1807G > A (p.Val603Met) was found in a patient with late-onset idiopathic generalized epilepsy. There was no significant difference in the incidence of these three mutations among the different subgroups of idiopathic generalized epilepsy and controls. Thus, further analysis of a larger population is needed to confirm the assumption that human seizure-related gene 6 is a susceptibility gene for idiopathic generalized epilepsy with various sub-syndromes.

  2. Association analysis of single nucleotide polymorphisms at five loci: comparison between atopic dermatitis and asthma in the Chinese Han population.

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    Hua-Yang Tang

    Full Text Available Atopic diseases, such as atopic dermatitis (AD and asthma, are closely related to clinical phenotypes with hypersensitivity, and often share some similar genetic and pathogenic bases. Our recent GWAS identified three susceptibility gene/loci FLG (rs11204971 and rs3126085, 5q22.1 (rs10067777, rs7701890, rs13360927 and rs13361382 and 20q13.33 (rs6010620 to AD. The effect of these AD associated polymorphisms in asthma is so far unknown. To investigate whether AD relevant genetic variants is identical to asthma and reveal the differences in genetic factors between AD and asthma in Chinese Han population, seven AD associated single nucleotide polymorphisms (SNPs as well as 3 other SNPs (rs7936562 and rs7124842 at 11q13.5 and rs4982958 at 14q11.2 from our previous AD GWAS were genotyped in 463 asthma patients and 985 controls using Sequenom MassArray system. We found rs4982958 at 14q11.2 was significantly associated with asthma (P = 3.04×10(-4, OR = 0.73. We also detected one significant risk haplotype GGGA from the 4 SNPs (rs10067777, rs7701890, rs13360927 and rs13361382 at 5q22.1 in AD cases (P(correction = 3.60×10(-10, OR = 1.26, and the haplotype was suggestive of risk in asthma cases in this study (P = 0.014, P(correction = 0.084, OR = 1.38. These SNPs (rs11204971, rs3126085, rs7936562, rs712484 and rs6010620 at AD susceptibility genes/loci FLG, 11q13.5 and 20q13.33 were not associated with asthma in this study. Our results further comfirmed that 14q11.2 was an important candidate locus for asthma and demonstrated that 5q22.1 might be shared by AD and asthma in Chinese Han population.

  3. Tyrosinase gene mutations in the Chinese Han population with OCA1.

    Science.gov (United States)

    Liu, Ning; Kong, Xiang Dong; Shi, Hui Rong; Wu, Qing Hua; Jiang, Miao

    2014-01-01

    Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive genetic disorder that affects melanin synthesis. OCA results in reduced or absent pigmentation in the hair, skin and eyes. Type 1 OCA (OCA1) is the result of tyrosinase (TYR) gene mutations and is a severe disease type. This study investigated TYR mutations in a Chinese cohort with OCA1. This study included two parts: patient genetic study and prenatal genetic diagnosis. A total of 30 OCA1 patients were subjected to TYR gene mutation analysis. Ten pedigrees were included for prenatal genetic diagnosis. A total of 100 unrelated healthy Chinese individuals were genotyped for controls. The coding sequence and the intron/exon junctions of TYR were analysed by bidirectional DNA sequencing. In this study, 20 mutations were identified, four of which were novel. Of these 30 OCA1 patients, 25 patients were TYR compound heterozygous; two patients carried homozygous TYR mutations; and three were heterozygous. Among the ten prenatally genotyped fetuses, three fetuses carried compound heterozygous mutations and seven carried no mutation or only one mutant allele of TYR and appeared normal at birth. In conclusion, we identified four novel TYR mutations and showed that molecular-based prenatal screening to detect TYR mutations in a fetus at risk for OCA1 provided essential information for genetic counselling of couples at risk. PMID:25577957

  4. Case-control association study of ABCB1 gene and major depressive disorder in a local Chinese Han population

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    Xie WW

    2015-08-01

    Full Text Available Wei-Wei Xie,1,2* Lin Zhang,1* Ren-Rong Wu,1 Yan Yu,3 Jing-Ping Zhao,1 Le-Hua Li1 1Mental Health Institute of the Second Xiangya Hospital, National Technology Institute of Psychiatry, Key Laboratory of Psychiatry and Mental Health of Hunan Province, Central South University, Changsha, Hunan, 2Department of Psychiatry, Ningbo Kangning Hospital, Ningbo, 3People’s Hospital of Hunan Province, Changsha, People’s Republic of China *These authors contributed equally to this work Background: Human P-glycoprotein encoded by the ATP-binding cassette sub-family B member 1 (ABCB1 gene is expressed in the blood–brain barrier. ABCB1 protects the brain from many drugs and toxins such as glucocorticoids through the efflux pump. Recent evidence suggests that a specific allele of the ABCB1 gene confers susceptibility to major depressive disorder (MDD in the Japanese population. The aim of this study was to explore the association of ABCB1 gene polymorphisms with MDD in a local Chinese Han population.Methods: Two hundred and ninety-two MDD patients and 208 unrelated individuals were matched by age and sex and examined using a case-control design. Six single nucleotide polymorphisms (SNPs of the ABCB1 gene, including rs1045642, rs2032583, rs2032582, rs2235040, rs1128503, and rs2235015, were genotyped by ligase detection reaction and multiplex polymerase chain reaction. Linkage disequilibrium and haplotype analysis were investigated in the two study groups. Results: Significant protection for MDD individuals carrying the TG haplotype of rs1045642–rs2032582 was observed (odds ratio 0.470, 95% confidence interval 0.251–0.897, P=0.01.The rs2032582 (G2677T and rs1128503 (C1236T SNPs of ABCB1 showed nominal associations with MDD; the other four SNPs of the ABCB1 gene were not associated with MDD.Conclusion: Chinese individuals carrying the TG haplotype of rs1045642–rs2032582 had a nearly 53% lower risk of developing MDD. To the best of our

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

    Science.gov (United States)

    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.

  6. B7-H4 gene polymorphisms are associated with sporadic breast cancer in a Chinese Han population

    International Nuclear Information System (INIS)

    B7-H4, a co-inhibitory molecule of the B7 family, can restrain T cell proliferation, cytokine secretion and the development of cytotoxicity. B7-H4 is expressed in tumor tissues at a higher level than in normal tissues, and has a potential effect to protect tumors from anti-tumor immune responses. This case-control study was carried out to determine the potential influences of B7-H4 gene polymorphisms on the susceptibility and progression of breast cancer in Han women of Northeast China. We genotyped three B7-H4 variants (rs10754339, rs10801935 and rs3738414) and tagged all common haplotypes (frequency greater than or equal to 1%) in a Chinese population consisting of 500 breast cancer cases and 504 control individuals matched for age. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to determine the genotypes. Our data indicated that, compared with the common genotype and allele of each SNP, the rs10754339 AG genotype and G allele showed a significantly increased risk of breast cancer (OR = 1.455, 95% CI 1.119-1.892; OR = 1.325, 95% CI 1.073-1.637, respectively). The rs10801935 CC genotype, the rs3738414 AA genotype and the rs3738414 A allele were associated with a significantly decreased risk of breast cancer (OR = 0.328, 95% CI 0.145-0.739; OR = 0.412, 95% CI 0.203-0.835; OR = 0.698, 95% CI 0.564-0.864, respectively). Additionally, the rs10754339 GG genotype was significantly associated with lymph node metastasis and PR status, and the G allele and the AG genotype were respectively associated with lymph node metastasis and ER status. In haplotype analysis, we observed that compared with the AAG haplotype, the AAA haplotype showed a significantly decreased risk of breast cancer (OR = 0.689, 95% CI 0.539-0.881), but the GAG haplotype was associated with a significantly increased risk of breast cancer (OR = 1.511, 95% CI 1.125-2.031). And the AAA and the GCG haplotypes also respectively have significant influences on

  7. AB200. Association of rs3129878 and rs498422in the HLA region with non-obstructive azoospermia in the Han Chinese population

    OpenAIRE

    Zou, Shasha; Song, Pingping; Chen, Tingting; Jianhua CHEN; He, Xiaojin; Xu, Peng(Academy of Mathematics and Systems Science, Chinese Academy of Sciences, 100190, Beijing, China); Liang, Ming; Luo, Kailing; Zhu, Xiaobin; Tian, Erpo; Du, Qiang; Wen, Zujia; Li, Zhiqiang; Wang, Meng; Sha, Yanwei

    2014-01-01

    Objective The previous genome-wide association study (GWAS) of non-obstructive azoospermia (NOA) in the Han Chinese populations identified two NOA-risk loci (rs498422 and rs3129878) within the HLA region, and provided strong evidence for the genetic influence of male infertility. A further case-control study found that only rs3129878 remained to be significantly associated with NOA in the Japanese population. Therefore, we conducted the association study to further validate whether the risk o...

  8. AB186. Association study between polymorphisms of PRMT6, PEX10, SOX5, and non-obstructive azoospermia in the Han Chinese population

    OpenAIRE

    Hu, Hongliang

    2014-01-01

    A previous genomewide association study of non-obstructive 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 c...

  9. Genetic polymorphism of the 26 short tandem repeat loci in the Chinese Hebei Han population using two commercial forensic kits.

    Science.gov (United States)

    Lei, Liang; Xu, Jie; Du, Qingqing; Fu, Lihong; Zhang, Xiaojing; Yu, Feng; Ma, Chunling; Cong, Bin; Li, Shujin

    2015-01-01

    We determined the allele frequencies and forensic parameters for the 26 short tandem repeat (STR) autosomal markers in two commercial kits (the Investigator HDplex and AmpFLSTR(®) Identifiler(®) systems) for 183 unrelated individuals from the Han population of the Hebei Province of China. The 26 STRs were all in Hardy-Weinberg equilibrium. No linkage disequilibrium was detected between any pair of loci. The combined power of discrimination and the combined power of exclusion for the 26 STR loci were 1-7.74E-31 and 1-1.21E-11, respectively. Six rare alleles of D10S2325 were identified and named 20, 21, 22, 23, 24, and 31. All the length of the six rare alleles were out of the range of allelic ladder. We calculated the population pairwise genetic distance based on the allele frequencies, using published population data including German, central Polish, south Dutch, northeastern Polish, south Brazilian, Korean, Sichuan Han of China, and Shanghai Han of China. Also we examined the population pairwise genetic distance of loci included in Identifiler system between Hebei Han and other ethnic population of China. These 26 autosomal STR loci could provide highly informative polymorphic data for paternity testing and forensic identification in the Hebei Han population in China. Because they are all in linkage equilibrium, they could be used together to solve deficient kinship cases or cases with mutations. PMID:25262358

  10. Ultrasonic measurement of facial tissue depth in a Northern Chinese Han population.

    Science.gov (United States)

    Jia, Linpei; Qi, Baiyu; Yang, Jingyan; Zhang, Weiguang; Lu, Yingqiang; Zhang, Hong-Liang

    2016-02-01

    In forensic anthropology, facial soft tissue depth measurement is crucial for craniofacial reconstruction technology, which is based on the morphological features of human faces to rebuild appearances of decedents, helps forensic scientists to identify the nameless bone. We measured the facial tissue depth of 135 young subjects from northern China whereby revealing the relationship among tissue depth, sex and BMI as well as providing data for craniofacial reconstruction in forensic science. All the volunteers are healthy medical students including 64 males and 71 females. Ultrasound was used to measure 19 points across the face evenly distributed in 6 regions including the eye, nose, mouth, cheek, jaw and chin. Our results indicate that tissue thickness at 11 points of females and 11 points of males are related to BMI. A majority of points are thicker in females than those of males. Further comparisons with data of American and European population show an apparent diversity in both genders. PMID:26778588

  11. Influence of fibrinogen β-chain gene variations on risk of myocardial infarction in a Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    LU Xiang-feng; YU Hong-jiang; ZHOU Xiao-yang; WANG Lai-yuan; HUANG Jian-feng; GU Dong-feng

    2008-01-01

    Background Although the role of fibrinogen as a predictor of acute myocardial infarction(MI)has been well-established,the association of genetic polymorphisms in the fibrinogen gene with MI is still controversial.This study was conducted to elucidate the association between the genetic polymorphisms of the fibrinogen β-chain(FGB)gene and MI in Chinese Han population.Methods The occurrence of 3 common polymorphisms(i.e.-455G/A,R448K and 8558C/G)in a case-control study including 508 patients with MI and 503 healthy controls was investigated. Results Analyses of single polymorphisms showed that individuals carrying the rare alleles for the 3 polymorphisms were significantly associated with a decreased risk of MI.Logistic regression analysis indicated that R448K remained independently associated with MI after adjustment for environmental risk factors(adjusted odds ratio(OR)=0.71 for KK/RK versus RR.P=0.023).The three polymorphisms were found to be in strong linkage disequilibrium.Haplotype analyses showed that the A-K-G haplotype(-455A,448K,8558G)was associated with a protective effect against MI.Compared with the common haplotype G-R-C,the adjusted OR for A-K-G was 0.68(95% CI,0.51-0.90;P=0.006). Conclusion These data indicate that individuals carrying the FGB 448K allele may be protective against having MI in this population.

  12. IL23R gene confers susceptibility to ankylosing spondylitis concomitant with uveitis in a Han Chinese population.

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    Hongtao Dong

    Full Text Available PURPOSE: The interleukin-23 receptor (IL-23R has been shown to be associated with ankylosing spondylitis (AS in many different populations. This study examined whether IL-23R polymorphisms were associated with susceptibility to this disease in a Chinese Han population. METHODS: Three single-nucleotide polymorphisms (SNP, rs7517847, rs11209032, and rs17375018, were genotyped in 291 AS patients and 312 age-, sex-, and ethnically matched healthy controls using a polymerase chain reaction (PCR restriction fragment length polymorphism (RFLP assay. RESULTS: The genotype and allele frequencies of rs17375018, rs7517847, and rs11209032 were not different between the patients with AS and the healthy controls. On the one hand, stratification analysis indicated that the rs17375018 GG genotype and the G allele were increased in AS patients who were HLA-B27 positive (corrected p = 0.024, odds ratio [OR] 2.35, 95% CI 1.30-4.24; p c = 0.006, OR 1.98, 95% CI 1.28-3.07, respectively. On the other hand, the analysis according to clinical characteristics showed a significantly increased prevalence of the homozygous rs17375018 GG genotype and the G allele in patients with AS and uveitis compared with the controls (p c = 0.024 and p c = 0.024, respectively. In addition, haplotype analysis performed with the SHEsis platform revealed no significant difference concerning the haplotypes between AS patients and healthy controls. CONCLUSIONS: In this study, the results suggested that the rs17375018 of IL23R was positively associated with HLA-B27-positive AS and that the rs17375018 GG of IL-23R was associated with AS concomitant with uveitis. We found no evidence for an association between the other two SNPs of IL-23R and AS.

  13. Validation of type 2 diabetes risk variants identified by genome-wide association studies in Han Chinese population: a replication study and meta-analysis.

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    Yi-Cheng Chang

    Full Text Available BACKGROUND: Several genome-wide association studies (GWAS involving European populations have successfully identified risk genetic variants associated with type 2 diabetes mellitus (T2DM. However, the effects conferred by these variants in Han Chinese population have not yet been fully elucidated. METHODS: We analyzed the effects of 24 risk genetic variants with reported associations from European GWAS in 3,040 Han Chinese subjects in Taiwan (including 1,520 T2DM cases and 1,520 controls. The discriminative power of the prediction models with and without genotype scores was compared. We further meta-analyzed the association of these variants with T2DM by pooling all candidate-gene association studies conducted in Han Chinese. RESULTS: Five risk variants in IGF2BP2 (rs4402960, rs1470579, CDKAL1 (rs10946398, SLC30A8 (rs13266634, and HHEX (rs1111875 genes were nominally associated with T2DM in our samples. The odds ratio was 2.22 (95% confidence interval, 1.81-2.73, P34 as compared with subjects with the lowest quartile (score<29. The incoporation of genotype score into the predictive model increased the C-statistics from 0.627 to 0.657 (P<0.0001. These estimates are very close to those observed in European populations. Gene-environment interaction analysis showed a significant interaction between rs13266634 in SLC30A8 gene and age on T2DM risk (P<0.0001. Further meta-analysis pooling 20 studies in Han Chinese confirmed the association of 10 genetic variants in IGF2BP2, CDKAL1, JAZF1, SCL30A8, HHEX, TCF7L2, EXT2, and FTO genes with T2DM. The effect sizes conferred by these risk variants in Han Chinese were similar to those observed in Europeans but the allele frequencies differ substantially between two populations. CONCLUSION: We confirmed the association of 10 variants identified by European GWAS with T2DM in Han Chinese population. The incorporation of genotype scores into the prediction model led to a small but significant improvement in T2DM

  14. Creating a New Chinese Cyber-Celebrity : A Cultural Analysis of Han Han's Blog as Web-based Media Spectacle

    OpenAIRE

    Berg, DPhil (Oxon), Daria; Strafella, Giorgio

    2014-01-01

    Novelist and race-car driver Han Han stars as the world's most popular blogger, boasting 595 million hits. China has emerged as the world's largest Internet population with 591 million netizens and a 44% penetration rate, rapidly increasing the number of Chinese citizens able to exchange information and opinions through non-official channels. Using Han Han as a case study, this paper aims first, to analyse how China's cybersphere creates a new type of celebrity; and second, how Han Han's blog...

  15. Correlation between LRRK2 gene polymorphism sites S1647T and R1398H and Parkinson's disease in a Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Xueli Chang; Xueye Mao; Zijuan Zhang; Jinhong Zhang; Yuan Yang; Tao Li; Nannan Li; Jean-Marc Burgunder; Rong Peng

    2011-01-01

    A recent multicenter study demonstrated that two variants of LRRK2, S1647T and R1398H, are associated with sporadic Parkinson's disease.The present study analyzed LRRK2 gene polymorphisms of S1647T and R1398H, demonstrating that the LRRK2 gene polymorphism S1647T variant is a risk factor for Parkinson's disease in a Chinese Han population.However, the R1398H variant did not influence the risk for Parkinson's disease.In addition, there was no difference in clinical symptoms of Parkinson's disease patients with various genotypes.Results showed that the LRRK2 S1647T variant was associated with an increased risk for developing early-onset Parkinson's disease in a Chinese Han population.In addition, there was no correlation between LRRK2 S1647T, R1398H variants and G2385R, R1628P variants in Parkinson's disease patients.

  16. The (SNP) of multi-drug resistance 1 protein (MDR1,P-glycoprotein) in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    DanLI; Guo-liangZHANG; XinWANG; Xiu-yunBU

    2004-01-01

    AIM: To investigate the single nucleotide polymorphism (SNP) of multi-drug resistance 1 protein (MDR1, P-glycoprotein) in the Chinese Han population. METHODS'. DNA was extracted from 200 p,L heparin-anticoagulated whole blood using QIAamp Blood Kit. A polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) was used for the detection of C3435T SNP. The PCR product of 248 bp was digested with

  17. A Replication Study for the Association of rs726252 in PAPPA2 with Developmental Dysplasia of the Hip in Chinese Han Population

    OpenAIRE

    2014-01-01

    Developmental dysplasia of the hip (DDH) is a common developmental hip disorder, which ranges from mild acetabulum malformation to irreducible hip dislocation. A previous study suggested a significant association of pregnancy-associated plasma protein-A2 (PAPPA2) with DDH susceptibility in Chinese Han population. But with the consideration of the sample size, the association was still debatable. To confirm the association of the reported single nucleotide polymorphism (SNP) in PAPPA2, rs72625...

  18. FADS Gene Polymorphisms Confer the Risk of Coronary Artery Disease in a Chinese Han Population through the Altered Desaturase Activities: Based on High-Resolution Melting Analysis

    OpenAIRE

    Li, Si-Wei; Lin, Kun; Ma, Pei; Zhang, Zhen-Lu; Zhou, Yi-Dan; Lu, Shuang-Yan; Zhou, Xin; Liu, Song-Mei

    2013-01-01

    Objective We explored the desaturase activities and the correlation of fatty acid desaturases (FADS) gene single nucleotide polymorphisms (SNPs) with plasma fatty acid in coronary artery disease (CAD) patients in a Chinese Han population. Methods Plasma fatty acids were measured by gas chromatography in CAD patients (n = 505) and a control group (n = 510). Five SNPs in the FADS gene were genotyped with high-resolution melting (HRM) methods. Results After adjustment, D6D activity, assessed as ...

  19. A Case-Control Study between Gene Polymorphisms of Polyunsaturated Fatty Acid Metabolic Rate-Limiting Enzymes and Acute Coronary Syndrome in Chinese Han Population

    OpenAIRE

    Zikai Song; Hongyan Cao; Ling Qin; Yanfang Jiang

    2013-01-01

    The purpose of this study is to analyze the relationship between the polymorphisms of fatty acid desaturase 1 (FADS1), fatty acid desaturase 2 (FADS2), and elongation of very long-chain fatty acids-like 2 (ELOVL2) and acute coronary syndrome (ACS) in Chinese Han population. Therefore, we selected three single nucleotide polymorphisms (SNPs) from these candidate genes and genotyped them using PCR-based restriction fragment length polymorphism analysis in 249 ACS patients and 240 non-ACS subjec...

  20. Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan.

    Directory of Open Access Journals (Sweden)

    Hsin-Chou Yang

    Full Text Available Young-onset hypertension has a stronger genetic component than late-onset counterpart; thus, the identification of genes related to its susceptibility is a critical issue for the prevention and management of this disease. We carried out a two-stage association scan to map young-onset hypertension susceptibility genes. The first-stage analysis, a genome-wide association study, analyzed 175 matched case-control pairs; the second-stage analysis, a confirmatory association study, verified the results at the first stage based on a total of 1,008 patients and 1,008 controls. Single-locus association tests, multilocus association tests and pair-wise gene-gene interaction tests were performed to identify young-onset hypertension susceptibility genes. After considering stringent adjustments of multiple testing, gene annotation and single-nucleotide polymorphism (SNP quality, four SNPs from two SNP triplets with strong association signals (-log(10(p>7 and 13 SNPs from 8 interactive SNP pairs with strong interactive signals (-log(10(p>8 were carefully re-examined. The confirmatory study verified the association for a SNP quartet 219 kb and 495 kb downstream of LOC344371 (a hypothetical gene and RASGRP3 on chromosome 2p22.3, respectively. The latter has been implicated in the abnormal vascular responsiveness to endothelin-1 and angiotensin II in diabetic-hypertensive rats. Intrinsic synergy involving IMPG1 on chromosome 6q14.2-q15 was also verified. IMPG1 encodes interphotoreceptor matrix proteoglycan 1 which has cation binding capacity. The genes are novel hypertension targets identified in this first genome-wide hypertension association study of the Han Chinese population.

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

    Science.gov (United States)

    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. PMID:26311108

  2. Variants in ZNRD1 gene predict HIV-1/AIDS disease progression in a Han Chinese population in Taiwan.

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    Ying-Ju Lin

    Full Text Available Patients demonstrate notable variations in disease progression following human immunodeficiency virus (HIV infection. We aimed to identify ZNRD1 and RNF39 genetic variants linked to AIDS progression. We conducted a genetic association study in HIV-1-infected Han Chinese patients residing in Taiwan. The clinical characteristics of 143 HIV-1-infected patients were measured, and patients were split into 2 groups: AIDS progression and AIDS non-progression. Genotyping of ZNRD1 and RNF39 was performed in all participants. We found that patients in the AIDS progression group had higher HIV-1 viral loads and lower CD4 cell counts than did patients in the AIDS non-progression group. The frequency of the AA genotype of ZNRD1 (rs16896970 was lower in the AIDS progression group than in the AIDS non-progression group. Patients with AA genotypes had lower levels of HIV-1 viral loads and higher levels of CD4 cell counts than did patients with AG+GG genotypes. AIDS progression in patients with the AA group is significantly different from that in patients with the AG and GG groups by using Kaplan-Meier survival analysis. The hazard ratio for progression was lower in the AA group than in the AG and GG groups. We identified a SNP that contributes to AIDS progression in HIV-1-infected patients in this population. This SNP had a significant protective influence on AIDS progression, and polymorphisms of the ZNRD1 gene may play a role in the pathogenesis of HIV-1 infection.

  3. Investigation of CD28 gene polymorphisms in patients with sporadic breast cancer in a Chinese Han population in Northeast China.

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    Shuang Chen

    Full Text Available BACKGROUND: CD28 is one of a number of costimulatory molecules that play crucial roles in immune regulation and homeostasis. Accumulating evidence indicates that immune factors influence breast carcinogenesis. To clarify the relationships between polymorphisms in the CD28 gene and breast carcinogenesis, a case-control study was conducted in women from Heilongjiang Province in northeast of China. METHODOLOGY/PRINCIPAL FINDINGS: Our research subjects consisted of 565 female patients with sporadic breast cancer and 605 age- and sex-matched healthy controls. In total, 12 single nucleotide polymorphisms (SNPs in the CD28 gene were successfully determined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP method. The relationship between the CD28 variants and clinical features, including histological grade, tumor size, lymph node metastasis, human epidermal growth factor receptor 2 (C-erbB2, estrogen receptor (ER, progesterone receptor (PR, and tumor protein 53 (P53 status were analyzed. A statistically significant association was observed between rs3116496 and breast cancer risk under different genetic models (additive P = 0.0164, dominant P = 0.0042. Different distributions of the rs3116496 'T' allele were found in patients and controls, which remained significant after correcting the P value for multiple testing using Haploview with 10,000 permutations (corrected P = 0.0384. In addition, significant associations were observed between rs3116487/rs3116494 (D' = 1, r(2 = 0.99 and clinicopathological features such as C-erbB2 and ER status, in breast cancer patients. CONCLUSIONS/SIGNIFICANCE: Our findings indicate that CD28 gene polymorphisms contribute to sporadic breast cancer risk and have a significant association with clinicopathological features in a northeast Chinese Han population.

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

    Science.gov (United States)

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

    2016-01-01

    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 r2 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/m2 (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. PMID:27465520

  5. Do nuclear-encoded core subunits of mitochondrial complex I confer genetic susceptibility to schizophrenia in Han Chinese populations?

    Science.gov (United States)

    Li, Xiao; Zhang, Wen; Tang, Jinsong; Tan, Liwen; Luo, Xiong-jian; Chen, Xiaogang; Yao, Yong-Gang

    2015-01-01

    Schizophrenia is one of the most prevalent psychiatric disorders with complex genetic etiology. Accumulating evidence suggests that energy metabolism and oxidative stress play important roles in the pathophysiology of schizophrenia. Dysfunction of mitochondrial respiratory chain and altered expression of complex I subunits were frequently reported in schizophrenia. To investigate whether nuclear-encoded core subunit genes of mitochondrial complex I are associated with schizophrenia, we performed a genetic association study in Han Chinese. In total, 46 tag single nucleotide polymorphisms (SNPs) from 7 nuclear-encoded core genes of mitochondrial complex I were genotyped in 918 schizophrenia patients and 1042 healthy controls. We also analyzed these SNPs in a large sample mainly composed of Europeans through using the available GWAS datasets from the Psychiatric Genomics Consortium (PGC). No significant associations were detected between these SNPs and schizophrenia in Han Chinese and the PGC data set. However, we observed nominal significant associations of 2 SNPs in the NDUFS1 gene and 4 SNPs in the NDUFS2 gene with early onset schizophrenia (EOS), but none of these associations survived the Bonferroni correction. Taken together, our results suggested that common SNPs in the nuclear-encoded core subunit genes of mitochondrial complex I may not confer genetic susceptibility to schizophrenia. PMID:26053550

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

    Science.gov (United States)

    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

  7. Association between AKT1 gene polymorphisms and depressive symptoms in the Chinese Han population with major depressive disorder

    Institute of Scientific and Technical Information of China (English)

    Chunxia Yang; Ning Sun; Yan Ren; Yan Sun; Yong Xu; Aiping Li; Kewen Wu; Kerang Zhang

    2012-01-01

    For this study, 461 Chinese Han patients with depressive disorder were recruited. The AKT1 genotype and allele distribution were determined by PCR amplification and direct sequencing. UNPHASED software was used to analyze associations between the 17-item Hamilton Depression Rating Scale, total score, four factors and the AKT1 rs2494746 and rs3001371 polymorphisms. The results indicate that there is a significant association between suicidal ideation and anxiety symptoms in depressed patients and the rs2494746 polymorphism. The other AKT1 polymorphism, rs3001371, was significantly associated with work and activities. Patients with the rs3001371-A allele had a significantly more severe illness compared to patients with the rs3001371-G allele. Thus, AKT1 polymorphisms appear to be associated with depression severity, anxiety symptoms, work and activities, and suicide attempts in patients with depressive disorder.

  8. Population data of mitochondrial DNA HVS-I and HVS-II sequences for 208 Henan Han Chinese.

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    Xu, Kaikai; Hu, Shengping

    2015-07-01

    The two hypervariable segments (HVS-I and HVS-II) of mitochondrial DNA (mtDNA) control region were sequenced for a population of 208 unrelated healthy individuals sampled from Suiping County, Henan Province, China. A total of 192 different haplotypes were identified, of which 179 haplotypes were unique (93.23%). The variation of the mtDNA HVS-I and HVS-II was confined to 166 nucleotide positions, of which 115 were observed in the HVS-I and 51 in the HVS-II. The haplotype diversity and random match probability were 0.9991 and 0.0061, respectively. Following the principle of the updated East Asian mtDNA phylogeny tree, individual samples were assigned to the specific haplogroups based on the information both from control region and coding-region obtained. Haplogroup D was the most common haplogroup (25.96%). The northern China-prevalent haplogroups (A, C, D, G, M8, Y, and Z) and the southern China-prevalent haplogroups (B, F, M7, N9, and R9) accounted for 48.56% and 46.63%, respectively, of the Henan Han mtDNA gene pool. The mtDNA hypervariable region was highly polymorphic in Henan Han population. These sequences could serve as mtDNA reference data for forensic casework in Henan population as well as for population genetic study. PMID:25759193

  9. Variants of Interleukin-7/Interleukin-7 Receptor Alpha are Associated with Both Neuromyelitis Optica and Multiple Sclerosis Among Chinese Han Population in Southeastern China

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    Zhuang, Jing-Cong; Wu, Lei; Qian, Mei-Zhen; Cai, Ping-Ping; Liu, Qi-Bing; Zhao, Gui-Xian; Li, Zhen-Xin; Wu, Zhi-Ying

    2015-01-01

    Background: Neuromyelitis optica (NMO) and multiple sclerosis (MS) are autoimmune demyelinating diseases of the central nerve system. Interleukin-7 (IL-7) and interleukin-7 receptor alpha (IL-7Rα) were proved to be important in the pathogenesis of both diseases because of the roles they played in the differentiations of autoimmune lymphocytes. The variants of both genes had been identified to be associated with MS susceptibility in Caucasian, Japanese and Korean populations. However, the association of these variants with NMO and MS has not been well studied in Chinese Southeastern Han population. Here, we aimed to evaluate the association of six IL-7 variants (rs1520333, rs1545298, rs4739140, rs6993386, rs7816065, and rs2887502) and one variant of IL-7RA (rs6897932) with NMO and MS among Chinese Han population in southeastern China. Methods: Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MassARRAY system) and Sanger sequencing were used to determine the variants of IL-7 and IL-7RA in 167 NMO patients, 159 MS patients and 479 healthy controls among Chinese Han population in southeastern China. Samples were excluded if the genotyping success rate <90%. Results: Statistical differences were observed in the genotypes of IL-7 rs1520333 in MS patients and IL-7RA rs6897932 in NMO patients, compared with healthy controls (P = 0.035 and 0.034, respectively). There was a statistically significant difference in the genotypes of IL-7 rs2887502 between MS and NMO patients (P = 0.014). And there were statistically significant differences in the rs6897932 genotypes (P = 0.004) and alleles (P = 0.042) between NMO-IgG positive patients and healthy controls. Conclusions: The study suggested that among Chinese Han population in southeastern China, the variant of IL-7RA (rs6897932) was associated with NMO especially NMO-IgG positive patients while the variant of IL-7 (rs1520333) with MS patients. And the genotypic differences of IL-7 rs2887502 between

  10. Variants of Interleukin-7/Interleukin-7 Receptor Alpha are Associated with Both Neuromyelitis Optica and Multiple Sclerosis Among Chinese Han Population in Southeastern China

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    Jing-Cong Zhuang

    2015-01-01

    Full Text Available Background: Neuromyelitis optica (NMO and multiple sclerosis (MS are autoimmune demyelinating diseases of the central nerve system. Interleukin-7 (IL-7 and interleukin-7 receptor alpha (IL-7Rα were proved to be important in the pathogenesis of both diseases because of the roles they played in the differentiations of autoimmune lymphocytes. The variants of both genes had been identified to be associated with MS susceptibility in Caucasian, Japanese and Korean populations. However, the association of these variants with NMO and MS has not been well studied in Chinese Southeastern Han population. Here, we aimed to evaluate the association of six IL-7 variants (rs1520333, rs1545298, rs4739140, rs6993386, rs7816065, and rs2887502 and one variant of IL-7RA (rs6897932 with NMO and MS among Chinese Han population in southeastern China. Methods: Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MassARRAY system and Sanger sequencing were used to determine the variants of IL-7 and IL-7RA in 167 NMO patients, 159 MS patients and 479 healthy controls among Chinese Han population in southeastern China. Samples were excluded if the genotyping success rate <90%. Results: Statistical differences were observed in the genotypes of IL-7 rs1520333 in MS patients and IL-7RA rs6897932 in NMO patients, compared with healthy controls (P = 0.035 and 0.034, respectively. There was a statistically significant difference in the genotypes of IL-7 rs2887502 between MS and NMO patients (P = 0.014. And there were statistically significant differences in the rs6897932 genotypes (P = 0.004 and alleles (P = 0.042 between NMO-IgG positive patients and healthy controls. Conclusions: The study suggested that among Chinese Han population in southeastern China, the variant of IL-7RA (rs6897932 was associated with NMO especially NMO-IgG positive patients while the variant of IL-7 (rs1520333 with MS patients. And the genotypic differences of IL-7 rs2887502

  11. Variants of Interleukin-7/Interleukin-7 Receptor Alpha are Associated with Both Neuromyelitis Optica and Multiple Sclerosis Among Chinese Han Population in Southeastern China

    Institute of Scientific and Technical Information of China (English)

    Jing-Cong Zhuang; Lei Wu; Mei-Zhen Qian; Ping-Ping Cai; Qi-Bing Liu; Gui-Xian Zhao; Zhen-Xin Li

    2015-01-01

    Background: Neuromyelitis optica (NMO) and multiple sclerosis (MS) are autoimmune demyelinating diseases of the central nerve system.Interleukin-7 (IL-7) and interleukin-7 receptor alpha (IL-7Rα) were proved to be important in the pathogenesis of both diseases because of the roles they played in the differentiations of autoimmune lymphocytes.The variants of both genes had been identified to be associated with MS susceptibility in Caucasian, Japanese and Korean populations.However, the association of these variants with NMO and MS has not been well studied in Chinese Southeastern Han population.Here, we aimed to evaluate the association of six IL-7 variants (rs 1520333, rs1545298, rs4739140, rs6993386, rs7816065, and rs2887502) and one variant of IL-7RA (rs6897932) with NMO and MS among Chinese Han population in southeastem China.Methods: Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MassARRAY system) and Sanger sequencing were used to determine the variants ofIL-7 and IL-7RA in 167 NMO patients, 159 MS patients and 479 healthy controls among Chinese Han population in southeastern China.Samples were excluded if the genotyping success rate <90%.Results: Statistical differences were observed in the genotypes ofIL-7 rs 1520333 in MS patients and IL-7RA rs6897932 in NMO patients,compared with healthy controls (P =0.035 and 0.034, respectively).There was a statistically significant difference in the genotypes of IL-7 rs2887502 between MS and NMO patients (P =0.014).And there were statistically significant differences in the rs6897932 genotypes (P =0.004) and alleles (P =0.042) between NMO-IgG positive patients and healthy controls.Conclusions: The study suggested that among Chinese Han population in southeastern China, the variant of IL-7RA (rs6897932) was associated with NMO especially NMO-IgG positive patients while the variant of IL-7 (rs1520333) with MS patients.And the genotypic differences ofIL-7 rs2887502 between MS and NMO

  12. Lack of Association between Missense Variants in GRHL3 (rs2486668 and rs545809) and Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population

    Science.gov (United States)

    He, Miao; Bian, Zhuan

    2016-01-01

    Background Grainyhead-like-3 (GRHL3) was recently identified as the second gene that, when mutated, can leads to Van der Woude syndrome, which is characterized by orofacial clefts (OFC) and lower lip pits. In addition, a missense variant (rs41268753) in GRHL3 confers risk for non-syndromic cleft palate cases of European ancestry. Together with interferon regulatory factor 6 (IRF6), GRHL3 may be associated with the risk of NSOFC which awaits for being verified across different ethnic populations. Objective The aim of this study was to investigate the possible relationship between common functional variants in GRHL3 and susceptibility to NSOFC, especially cleft palate cases, in a Han Chinese population, one of the ethnic groups with the highest birth prevalence of orofacial clefting. Methods Because the allele frequency for rs41268753 minor alleles was zero in our Chinese population, we selected functional single nucleotide polymorphisms (SNPs) spanning GRHL3 with minor allele frequencies (MAFs) > 5% in the Han Chinese population. Two SNPs which meet the above criteria were then genotyped in a case-control cohort comprising 1145 individuals using the TaqMan 5′-exonuclease allelic discrimination assay. Results SNPs rs2486668 and rs545809 were used in this study. Overall genotype and allele distributions of both SNPs in general and stratified genotyping analyses revealed no statistically significant differences between cases and controls. Further logistic regression analyses using different genetic models failed to reveal any evidence that these markers influence risk to NSOFC. Conclusions The variant rs41268753 in GRHL3 increases the risk for cleft palate in European population, but our findings failed to detect the link between two GRHL3 SNPs (rs2486668 and rs545809) and risk to NSOFC in the Han Chinese cohort. Although the present study did not provide any evidence that common functional variants in GRHL3 may contribute to NSOFC etiology in this Chinese population

  13. The mitochondrial tRNA(Gln) T4353C mutation may not be associated with essential hypertension in Han Chinese population.

    Science.gov (United States)

    Meng, Xing; Pei, Hui; Lan, Chao

    2016-09-01

    We reported here the possible role of a mitochondrial tRNA mutation: T4353C in clinical expression of essential hypertension in Chinese population. The human mammalian mitochondrial tRNA database was used to analyze the conservation index of this mutation between different species. Moreover, phylogenetic analysis showed that the T4353C mutation belonged to human mitochondrial haplogroup HV, a West Eurasian haplogroup found throughout Western Asia and Eastern European but was infrequent in China. In addition, structural prediction of the T4353C mutation indicated that this transition did not alter the secondary structure of tRNA(Gln). Together, our data indicated that the T4353C mutation occurred infrequent and may not be associated with essential hypertension in Han Chinese population. PMID:25693701

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

    Science.gov (United States)

    Li, Ning; Luo, Huaichao; 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

  15. Variants of Interferon Regulatory Factor 5 are Associated with Neither Neuromyelitis Optica Nor Multiple Sclerosis in the Southeastern Han Chinese Population

    Institute of Scientific and Technical Information of China (English)

    Qi-Bing Liu; Lei Wu; Gui-Xian Zhao; Ping-Ping Cai; Zhen-Xin Li; Zhi-Ying Wu

    2015-01-01

    Background:Neuromyelitis optica (NMO) and multiple sclerosis (MS) are demyelinating disorders of the central nervous system.Interferon regulatory factor 5 (IRF5) is a common susceptibility gene to different autoimmune disorders.However,the association of IRF5 variants with NMO and MS patients has not been well studied.Therefore,we aimed to evaluate whether IRF5 variants were associated with NMO and MS in the Southeastern Han Chinese population.Methods:Four single nucleotide polymorphisms (SNPs) were selected and genotyped by matrix-assisted laser desorption/ionization time of flight mass spectrometry in 111 NMO patients,145 MS patients and 300 controls from Southeastern China.Results:None of these 4 SNPs was associated with NMO or MS patients.Conclusions:Our preliminary study indicates that genetic variants in IRF5 may affect neither NMO nor MS in the Southeastern Han Chinese population.Further studies with a large sample size and diverse ancestry populations are needed to clarify this issue.

  16. SLC26A4 gene polymorphism and late-onset Alzheimer's disease in a Han Chinese population from Qingdao,China

    Institute of Scientific and Technical Information of China (English)

    Jifang Zhang; Yantuan Li

    2013-01-01

    In a recent genome-wide association study, the SLC26A4 gene rs2072064 polymorphism was found to be associated with late-onset Alzheimer's disease in Caucasians. Here, we investigated this association in a large Northern Han Chinese cohort consisting of 599 sporadic late-onset Alzheimer's disease patients and 598 healthy controls matched for sex and age in a Northern Han Chinese population from Qingdao, China. Genotyping by the polymerase chain reaction-ligase detection reaction revealed that there were significant differences in the genotype (P = 0.017) and allele (P = 0.007) frequencies of the rs2072064 polymorphism between late-onset Alzheimer's disease patients and controls. The A allele of this polymorphism was significantly associated with a reduced risk of late-onset Alzheimer's disease (odds ratio (OR) = 0.792, 95% confidence interval (CI) = 0.670–0.937, P = 0.007). When the data were stratified by the apolipoprotein E ε4 status, there was a significant difference only among apolipoprotein E ε4 non-carriers (genotypic P = 0.001, allelic P = 0.001). Furthermore, the association between rs2072064 and late-onset Alzheimer's disease remained significant by logistic regression analysis after adjustment for age, gender, and the apolipoprotein E ε4 carrier status (dominant model: OR = 0.787, 95% CI = 0.619–1.000, P = 0.050; recessive model: OR = 0.655, 95% CI = 0.448–0.959, P = 0.030; additive model: OR = 0.792, 95% CI = 0.661–0.950, P = 0.012). These findings suggest that SLC26A4 is a susceptibility gene for late-onset Alzheimer's disease in a Northern Han Chinese population from the Qingdao area.

  17. Peripheral blood mitochondrial DNA content, A10398G polymorphism, and risk of breast cancer in a Han Chinese population.

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    Jiang, Huangang; Zhao, Hong; Xu, Hui; Hu, Liu; Wang, Wenbo; Wei, Yuehua; Wang, You; Peng, Xiaohong; Zhou, Fuxiang

    2014-06-01

    It has been reported that quantitative alterations and sequence variations of mtDNA are associated with the onset and progression of particular types of tumor. However, the relationship between mtDNA content, certain mtDNA polymorphisms in peripheral blood leukocytes and breast cancer risk remain obscure. This study was undertaken to investigate whether mtDNA content and the A10398G polymorphism in peripheral blood leukocytes could be used as risk predictors for breast cancer in Han Chinese women. Blood samples were obtained from a total of 506 breast cancer patients and 520 matched healthy controls. The mtDNA content was measured by using quantitative real-time PCR assay; A10398G polymorphism was determined by PCR-RFLP assay. There was no statistically significant difference between cases and controls in terms of peripheral blood mtDNA content or A10398G polymorphism. However, further analysis suggested that the risk of breast cancer was associated with decreased mtDNA content in premenopausal women (P = 0.001; odds ratio = 0.54; 95% confidence interval, 0.38-0.77), with increased mtDNA content in postmenopausal women (P = 0.027; odds ratio = 1.49; 95% confidence interval, 1.05-2.11). In addition, the associations between mtDNA content and several clinicopathological parameters of cases such as age, menopausal status, and number of pregnancies and live births were observed. This case-control study indicated that the peripheral blood mtDNA content might be a potential biomarker to evaluate the risk of breast cancer for selected Chinese women. PMID:24703408

  18. Association of the p22phox polymorphism C242T with the risk of late-onset Alzheimer's disease in a northern Han Chinese population.

    Science.gov (United States)

    Fu, Qingxi; Qi, Faying; Tian, Fengyun; Ma, Guozhao; Che, Fengyuan; Du, Yifeng; Gao, Naiyong

    2016-07-01

    The C242T polymorphism of the CYBA gene that encodes p22phox, a component of nicotinamide adenine dinucleotide phosphate oxidase, has been found to modulate reactive oxygen species (ROS) production. Oxidative stress is thought to play a pivotal role in the pathophysiology of Alzheimer's disease (AD), which is manifested as increased availability of ROS because of an imbalanced redox state. Therefore, the aim of this study was to investigate potential associations of the p22phox C242T polymorphism with the risk of late-onset AD (LOAD) in a northern Han Chinese population. Patients with LOAD (n = 276) and 320 control subjects were recruited for the study. Polymerase chain reaction-restriction fragment length polymorphism was used to detect the genotypes. No significant differences were found between LOAD and p22phox C242T polymorphism, but a significant association was obtained in the genotype and allele distributions of p22phox C242T between LOAD patients and controls in apolipoprotein E (ApoE) ϵ4 carriers. These results suggested that p22phox C242T polymorphism has a possible role in changing the genetic susceptibility to LOAD in ApoE ϵ4 carriers of this northern Han Chinese population. PMID:26000926

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

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    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 (pEmotional Intelligence Test (MSCEIT) were significantly higher in FEDN than in chronic patients (all pMultiple 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. PMID:27086233

  20. Association of UCP3, APN, and TNF-a Gene Polymorphisms with Type 2 Diabetes in a Population of Northern Chinese Han Patients

    Institute of Scientific and Technical Information of China (English)

    WANG Ling-ling; DU Zhen-wu; LIU Jia-nan; WU Mei; SONG Yang; JIANG Ri-hua; ZHANG Gui-zhen

    2012-01-01

    We observed the polymorphism distribution and coaction of uncoupling protein 3(UCP3)-55C/T,adiponectin(APN)+45T/G and tumor necrosis factor(TNF)-a-308G/A on the onset and development of T2DM in a Northern Chinese Han population of 213[100 type 2 diabete(T2DM)patients and 113 health control subjects]by polymerase chain reaction-restriction fragment length polymorphisum(PCR-RFLP)method.Results demonstrate the polymorphism of UCP3-55C/T,APN+45T/G,and TNF-α-308G/A related to T2DM onset and developement.And the individuals carrying UCP3-55T,APN+45G and TNF-α-308A allele had higher T2DM risk.Those results are the first report to evaluate the association of the coaction of UCP3,APN,TNF-α genes polymorphism on T2DM risk and the susceptibility of T2DM in the Northern Chinese Han population.

  1. Association Between LYPLAL1 rs12137855 Polymorphism With Ultrasound-Defined Non-Alcoholic Fatty Liver Disease in a Chinese Han Population

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    Yuan

    2015-12-01

    Full Text Available Background Recent genome-wide association studies (GWAS identified that gene Lysophospholipase-like 1 (LYPLAL1 rs12137855 associated with non-alcoholic fatty liver disease (NAFLD. No research has been performed regarding the association between LYPLAL1 and NAFLD in China. Objectives The aim of the present study was to investigate the association between the gene LYPLAL1 rs12137855 and NAFLD, and the effect on serum lipid profiles in a Chinese Han population. Patients and Methods LYPLAL1 rs12137855 gene was genotyped in 184 patients with NAFLD and 114 healthy controls using sequencing and polymerase chain reaction analysis (PCR. We tested serum lipid profiles using biochemical methods. Results No significant differences in genotype and allele frequencies of LYPLAL1 rs12137855 was found between the NAFLD group and the controls group (P > 0.05. Subjects with the variant LYPLAL1 rs12137855 CC genotype had a higher mean weight, body mass index (BMI and low density lipoprotein (LDL. Conclusions Our results showed for the first time that LYPLAL1 gene is not associated with a risk of NAFLD development in the Chinese Han population. The variant carriers of overall subjects significantly increased weight, BMI and LDL.

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

    Science.gov (United States)

    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. PMID:26852650

  3. Association of tumor necrosis factor genetic polymorphism with chronic atrophic gastritis and gastric adenocarcinoma in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Bao-Ying Fei; Bing Xia; Chang-Sheng Deng; Xiao-Qing Xia; Min Xie; J Bart A Crusius; A Salvador Pena

    2004-01-01

    AIM: To investigate the association of TNF polymorphisms with chronic atrophic gastritis (CAG) and gastric adenocarcinoma in Chinese Han patients.METHODS: The TNFa-e 5 microsatellites and 3 RFLP sites were typed using PCR technique, followed by high-voltage denaturing PAGE with silver staining and restriction enzyme digestion respectively in specimens from 53 patients with CAG and 56 patients with gastric adenocarcinoma and 164 healthy controls. The PCR products were cloned and sequenced.RESULTS: The frequency of TNF-β Ncol*1/2 genotype was higher in patients with chronic atrophic gastritis than in healthy controls, but no significant difference was observed (60.38% vs 46.34%, P=0.076). The frequency of TNa10 allele was significantly higher in patients with chronic atrophic gastritis than in healthy controls (19.81% vs 11.89%,P=0.04). However, it did not relate to age, gender, atrophic degree or intestinal metaplasia in patients with chronic atrophic gastritis. The frequency of TNF-β Ncol*1/2 and d2/d6 genotypes were significantly higher in patients with gastric adenocarcinoma than in healthy individuals(P>0.05).However, TNF-β Ncol*1/2 and d2/d6 genotypes did not relate to age, gender, grade of differentiation and clinicopathologic stage in patients with gastric adenocarcinoma. The frequency of TNFa6b5c1 haplotype homozygote was significantly lower in patients with gastric adenocarcinoma than in healthy controls (1.79% vs15.85%, P=0.006).CONCLUSION: TNFa10 allele may be a risk factor for chronic atrophic gastritis. TNF-β Ncol*1/2 and d2/d6 genotypes are associated with the susceptibility to gastric adenocarcinoma,whereas TNFa6b5c1 haplotype homozygote may contribute to the resistance against gastric adenocarcinoma.

  4. Association of single nucleotide polymorphisms in TCF2 with type 2 diabetes susceptibility in a Han Chinese population.

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    Xuelong Zhang

    Full Text Available Hepatocyte nuclear factor 1β (HNF1β, a transcription factor encoded by the transcription factor 2 gene (TCF2, plays a critical role in pancreatic cell formation and glucose homeostasis. It has been suggested that single nucleotide polymorphisms (SNPs of TCF2 are associated with susceptibility to type 2 diabetes (T2D. However, published results are inconsistent and inclusive. To further investigate the role of these common variants, we examined the association of TCF2 polymorphisms with the risk of T2D in a Han population in northeastern China. We genotyped five SNPs in 624 T2D patients and 630 healthy controls by using a SNaPshot method, and evaluated the T2D risk conferred by individual SNPs and haplotypes. In the single-locus analysis, we found that rs752010, rs4430796 and rs7501939 showed allelic differences between T2D patients and healthy controls, with an OR of 1.26 (95% CI 1.08-1.51, P = 0.003, an OR of 1.23 (95% CI 1.06-1.55, P = 0.001 and an OR of 1.28 (95% CI 1.10-1.61, P = 0.001, respectively. Genotype association analysis of each locus also revealed that the homozygous carriers of the at-risk allele had a significant increased T2D risk compared to homozygous carriers of the other allele (OR 1.78, 95% CI 1.20-2.64 for rs752010; OR 1.82, 95% CI 1.24-2.67 for rs4430796; OR 1.95, 95% CI 1.31-2.90 for rs7501939, even after Bonferroni correction for multiple comparisons. Besides, the haplotype-based analysis demonstrated that AGT in block rs752010-rs4430796-rs7501939 was associated with about 30% increase in T2D risk (OR 1.31, 95% CI 1.09-1.57, P = 0.01. Our findings suggested that TCF2 variants may be involved in T2D risk in a Han population of northeastern China. Larger studies with ethnically diverse populations are warranted to confirm the results reported in this investigation.

  5. ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population.

    Science.gov (United States)

    Zhou, Luo; Cao, Yuze; Long, Hongyu; Long, Lili; Xu, Lin; Liu, Zhaoqian; Zhang, Ying; Xiao, Bo

    2015-06-01

    Drug resistance is common in epilepsy despite multiple available medications. Single nucleotide polymorphisms (SNP) may influence drug efficacy in epilepsy. We therefore aimed to clarify the association between polymorphisms of several controversial SNP loci and drug resistance in Chinese Han epilepsy patients from central China. Among all the 391 recruited subjects, 235 and 156 patients were classified into a drug responsive and resistant group, respectively, according to the definition of drug resistance proposed by the International League Against Epilepsy. The candidate SNP loci, including ATP-binding cassette (ABC) subfamily gene ABCB1 rs2032582 and rs1045642; ABC subfamily gene ABCC2 rs717620 and rs2273697; sodium channel subunit gene SCN1A rs3812718, SCN2A rs2304016; γ-amino butyric acid type A (GABAA) receptor subunit subtype gene GABRA1 rs2279020 were genotyped following the Illumina protocols. There were no significant differences in allelic or genotypic frequencies between the drug responsive and resistant patients. The polymorphisms of the above SNP loci may not be associated with drug resistance of epilepsy in the Chinese Han population. PMID:26189305

  6. Genetic Polymorphism of Nine Non-CODIS STR Loci in Hu-nan Province-based Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    GUO Juan-juan; LIU Ying; GUO Ya-dong; YAN Jie; CHANG Yun-feng; CAI Ji-feng; LU Ting; ZHA Lagabaiyila

    2014-01-01

    Objective To determine the allelic frequency distribution and genetic parameters of nine non-CODIS DNA index systems of the short tandemrepeat (STR ) loci (D2S1772, D6S1043, D7S3048, D8S1132, D11S2368, D12S391, D13S325, D18S1364, and GATA198B05). Methods A total of 353 blood samples were collected, extracted, amplified, and analyzed fromunrelated healthy individuals of Han na-tionality in Hunan Province, China. Results O ne hundred and fourteen alleles were observed in the pop-ulation with corresponding allelic frequencies ranged from0.001 0 to 0.323 0. For all the nine non-CODIS STR loci, the observed genotypic data showed no significant deviations fromthe Hardy-W einberg equi-librium. The Ho, He, PIC, D P, and PE of the studied non-CODIS STR loci ranged from0.108 0 to 0.195 0, 0.805 0 to 0.892 0, 0.770 0 to 0.860 0, 0.925 0 to 0.966 0 and 0.607 0 to 0.780 0, respectively. Conclusion N ine non-CODIS STR loci have high degrees of polymorphisms, which may be useful in in-dividual forensic identification and parentage testing in forensic practice.

  7. Genetic Variation in miR-146a Is Not Associated with Susceptibility to IgA Nephropathy in Adults from a Chinese Han Population.

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    Bin Yang

    Full Text Available MicroRNA 146a (miR-146a is a 19 to 23 nucleotide long, small non-coding RNA with gene regulatory functions that has influence on the pathogenesis of many diseases. A single nucleotide polymorphism (rs2910164 C>G in pre-miR-146a is correlated with the expression of miR-146a. The aim of this study was to perform an association analysis of rs2910164 with IgA nephropathy in adult patients from a Chinese Han population.A total of 145 patients with renal biopsy-proved IgA nephropathy (IgAN and 179 healthy controls were recruited to the current study. rs2910164 was genotyped by the polymerase chain reaction (PCR and high-resolution melting methods (HRM. Clinical characteristics and pathology grading of patients with IgAN were recorded at the time of kidney biopsy.There were significant differences among the population of patients grouped by different age of onset in a co-dominant model (CG vs. CC vs. GG (p = 0.033 and a recessive model (CG+CC vs. GG (p = 0.001. However, no significant difference was observed in the distribution of genotypes between cases and controls (p = 0.144. There was also no significant difference between rs2910164 and patient quantitative traits (all p > 0.003 or different pathology grading (Lee's grading system and tubular atrophy/interstitial fibrosis in the Oxford classification (all p > 0.05.There was no association of rs2910164 with susceptibility to IgAN in adults from a Chinese Han population. However, rs2910164 was correlated with the age of onset of IgAN in adult patients.

  8. Genetic association of urokinase-type plasminogen activator gene rs2227564 site polymorphism with sporadic Alzheimer's disease in the Han Chinese population

    Institute of Scientific and Technical Information of China (English)

    Xuelian Ji; Longfei Jia; Jianping Jia; Li Qi

    2012-01-01

    A missense C/T polymorphism in exon 6 (the NCBI rsID is rs2227564) of the urokinase-type plasminogen activator gene has been identified as a possible hot spot for Alzheimer's disease risk.The present study analyzed urokinase-type plasminogen gene polymorphisms of rs2227564 with sporadic Alzheimer's disease by PCR-restriction fragment length polymorphism.Results showed that CC,CT and TT genotype distribution frequencies had significant differences between sporadic Alzheimer's disease patients and healthy controls.In-depth analysis of the association between urokinase-type plasminogen gene rs2227564 polymorphisms and sporadic Alzheimer's disease indicated that people with the C-positive genotype CC + CT were at a higher risk for developing sporadic Alzheimer's disease.These results support the contribution of the polymorphisms of rs2227564 in the urokinase-type plasminogen gene to the pathogenesis of sporadic Alzheimer's disease in the Han Chinese population.

  9. -94 G/A polymorphism in the dopamine D1 receptor gene is associated with schizophrenia in a Chinese Han population from Shandong province

    Institute of Scientific and Technical Information of China (English)

    Zhaoyun Du; Guangxin Wang; Yuebing Zhang; Yiren Cheng; Chuanan Zhu

    2011-01-01

    The correlation between-94 G/A polymorphism in the dopamine D1 receptor gene and schizophrenia remains poorly understood despite extensive research.This study sought to evaluate the genotypes and allele frequencies of the-94 G/A polymorphism in the dopamine D1 receptor gene by real-time PCR using TaqMan fluorescent probes.One hundred and sixty-two patients with schizophrenia and 101 healthy controls living in Shandong province of China were evaluated.Experimental results showed that the G/A genotype distribution was significantly higher in the schizophrenia patients than in healthy controls.The frequencies of G allele and A allele were not significantly different between the schizophrenia patients and the controls.Thus,the-94 G/A polymorphism in the dopamine D1 receptor gene was found to be associated with schizophrenia in a Chinese Han population from Shandong province.

  10. A Functional Variant at the miR-214 Binding Site in the Methylenetetrahydrofolatereductase Gene Alters Susceptibility to Gastric Cancer in a Chinese Han Population

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    Qiaoyun Chen

    2015-05-01

    Full Text Available Background and Aims: Single nucleotide polymorphisms in miRNA binding sites, which are located in mRNA 3' untranslated regions (3'-UTRs, were recently found to influence microRNA-target interactions. Specifically, such polymorphisms can modulatebinding affinity or create or destroy miRNA-binding sites; such variants have also been found to be associated with cancer risk. In this study, we explored the effect of a functional variant at the miR-214 binding site in the methylenetetrahydrofolate reductase gene (rs114673809 on gastric cancer (GC risk in a hospital-based case-control study in a Chinese Han population. Methods and Results: We genotyped the rs114673809 polymorphism in 345 gastric cancer patients and 376 cancer-free controls using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP technique. The functions of rs114673809 were investigated using a luciferase activity assay and validated by immunoblotting. We found that participants carrying the rs114673809 AA genotype or A allele had a significantly increased risk of gastric cancer (OR = 1.667, 95% CI = 1.044-2.660, P = 0.034; OR = 1.261, 95% CI = 1.017-1.563, P = 0.037, respectively compared to those carrying the GG genotype and G allele. In addition, rs114673809 modified the binding of hsa-miR-214 to MTHFR as well as MTHFR protein levels in gastric cancer patients. Conclusion: Our data suggested that rs114673809, which is located at the miR-214 binding site in the 3'-UTR of MTHFR, may play an important role in the development of gastric cancer in a Chinese Han population.

  11. Associations of MMP1, MMP2 and MMP3 Genes Polymorphism with Coal Workers' Pneumoconiosis in Chinese Han Population.

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    Ji, Xiaoming; Wang, Lijuan; Wu, Baiqun; Han, Ruhui; Han, Lei; Wang, Ting; Yang, Jingjin; Ni, Chunhui

    2015-11-01

    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

  12. Associations of MMP1, MMP2 and MMP3 Genes Polymorphism with Coal Workers’ Pneumoconiosis in Chinese Han Population

    Science.gov (United States)

    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

  13. Associations of MMP1, MMP2 and MMP3 Genes Polymorphism with Coal Workers’ Pneumoconiosis in Chinese Han Population

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    Xiaoming Ji

    2015-10-01

    Full Text Available 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.

  14. Association of Common Genetic Variants in Mitogen-activated Protein Kinase Kinase Kinase Kinase 4 with Type 2 Diabetes Mellitus in a Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    Ting-Ting Li; Hong Qiao; Hui-Xin Tong; Tian-Wei Zhuang; Tong-Tong Wang

    2016-01-01

    Background:A study has identified several novel susceptibility variants of the mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4) gene for type 2 diabetes mellitus (T2DM) within the German population.Among the variants,five single nucleotide polymorphisms (SNPs) of MAP4K4 (rs1003376,rs11674694,rs2236935,rs2236936,and rs6543087) showed significant association with T2DM or diabetes-related quantitative traits.We aimed to evaluate whether common SNPs in the MAP4K4 gene were associated with T2DM in the Chinese population.Methods:Five candidate SNPs were genotyped in 996 patients newly diagnosed with T2DM and in 976 control subjects,using the SNPscanTM method.All subjects were recruited from the Second Affiliated Hospital,Harbin Medical University from October 2010 to September 2013.We evaluated the T2DM risk conferred by individual SNPs and haplotypes using logistic analysis,and the association between the five SNPs and metabolic traits in the subgroups.Results:Of the five variants,SNP rs2236935T/C was significantly associated with T2DM in this study population (odds ratio =1.293;95% confidence interval:1.034-1.619,P =0.025).In addition,among the controls,rs 1003376 was significantly associated with an increased body mass index (P =0.045) and homeostatic model assessment-insulin resistance (P =0.037).Conclusions:MAP4K4 gene is associated with T2DM in a Chinese Han population,and MAP4K4 gene variants may contribute to the risk toward the development of T2DM.

  15. A Promoter Region Polymorphism in PDCD-1 Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China

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    CuiPing Liu

    2014-01-01

    Full Text Available Objective. Programmed cell death 1 (PD-1 induces negative signals to T cells during interaction with its ligands and is therefore a candidate gene in the development of autoimmune diseases such as rheumatoid arthritis (RA. Herein, we investigate the association of PDCD-1 polymorphisms with the risk of RA among Chinese patients and healthy controls. Methods. Using the PCR-direct sequencing analysis, 4 PDCD-1 SNPs (rs36084323, rs11568821, rs2227982, and rs2227981 were genotyped in 320 RA patients and 309 matched healthy controls. Expression of PD-1 was determined in peripheral blood lymphocytes by flow cytometry and quantitative real-time reverse transcriptase polymerase chain reaction. Results. We observed that the GG genotype of rs36084323 was associated with a increased risk for developing RA (OR 1.70, 95% 1.11–2.61, P=0.049. Patients carrying G/G genotype displayed an increased mRNA level of PD-1 (P=0.04 compared with A/A genotype and healthy controls. Meanwhile, patients homozygous for rs36084323 had induced basal PD-1 expression on activated CD4+ T cells. Conclusion. The PDCD-1 polymorphism rs36084323 was significantly associated with RA risk in Han Chinese population. This SNP, which effectively influenced the expression of PD-1, may be a biomarker of early diagnosis of RA and a suitable indicator of utilizing PD-1 inhibitor for treatment of RA.

  16. Association between Polymorphisms in Interleukins 4 and 13 Genes and Chronic Periodontitis in a Han Chinese Population

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    Dong Chen; Tian-liang Zhang; Xia Wang

    2016-01-01

    Chronic periodontitis (CP) is one of the most common chronic inflammatory diseases and cytokines play a pivotal role in the regulation of immune response. Interleukin-4 (IL-4) and interleukin-13 (IL-13) are anti-inflammatory cytokines and several polymorphisms of them have been proved involved in periodontal disease. This study aimed to evaluate whether three single nucleotide polymorphisms (SNPs), rs2070874 and rs2243248 from IL4 and rs1800925 from IL13, are associated with CP in a Han Chine...

  17. Identification of Novel Susceptibility Loci for Kawasaki Disease in a Han Chinese Population by a Genome-Wide Association Study

    OpenAIRE

    Tsai, Fuu-Jen; Lee, Yi-Ching; Chang, Jeng-Sheng; Huang, Li-Min; Huang, Fu-Yuan; Chiu, Nan-Chang; Chen, Ming-Ren; CHI, Hsin; Lee, Yann-Jinn; Chang, Li-Ching; Liu, Yi-Min; Wang, Hsiang-Hua; Chen, Chien-Hsiun; Chen, Yuan-Tsong; Wu, Jer-Yuarn

    2011-01-01

    Kawasaki disease (KD) is an acute systemic vasculitis syndrome that primarily affects infants and young children. Its etiology is unknown; however, epidemiological findings suggest that genetic predisposition underlies disease susceptibility. Taiwan has the third-highest incidence of KD in the world, after Japan and Korea. To investigate novel mechanisms that might predispose individuals to KD, we conducted a genome-wide association study (GWAS) in 250 KD patients and 446 controls in a Han Ch...

  18. Meta-analysis of 5,10-methylenetetrahydrofolate reductase gene polymorphism as a risk factor for ischemic cerebrovascular disease in a Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Hua Bai

    2011-01-01

    OBJECTIVE: To assess whether 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism(-genotype or T allele) is a risk factor for ischemic cerebrovascular disease (ICVD).DATA SOURCES: MEDLINE and PubMed databases from September 1997 to December 2009 were searched for case-control studies that examined MTHFR genotype in human ICVD using "MTHFR, gene, polymorphism, and ischemic cerebrovascular disease" as search kev words.J I UU T JCLCU I 1Urv: cigmeen associatea stuaies were identified.1 he methods used to collect relevant information factors were similar between case and control groups, and diagnosis of ischemic cerebrovascular disease was in accordance with Trial of ORG 10172 in Acute Stroke Treatment criteria classification, with some referring to European Stroke Diagnostic Criteria.Quality of all included studies was evaluated, and meta-analysis was conducted using RevMan4.2 software (Cochrane Collaboration, http://www.cochrane-handbook.orq) following strict screenina.MAIN UU r UUMt MLAJUrrts: I ne correlation Detween M 1 Hi-H gene I I genotype or T allele and ICVD was determined.RESULTS: Eighteen studies involving 4 295 patients with ICVD and 6 169 control subjects were included for this meta-analysis.There was a significant difference in MTHFR gene TT aenotvoe or T auele frequency(X2=15.31, 9.156, P U.U5) in the Uhinese Han population.CONCLUSION: Results from the present meta-analysis suggested that the MTHFR gene TT genotype or T allele is a risk factor for ICVD.However, the-genotype or T allele is not a risk factor for ICVD in the Chinese Han population.

  19. Effect of genetic variants in KCNJ11, ABCC8, PPARG and HNF4A loci on the susceptibility of type 2 diabetes in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    WANG Fang; HAN Xue-yao; REN Qian; ZHANG Xiu-ying; HAN Ling-chuan; LUO Ying-ying; ZHOU Xiang-hai; JI Li-nong

    2009-01-01

    Background KCNJ11, ABCC8, PPARG, and HNF4A have been found to be associated with type 2 diabetes in populations with different genetic backgrounds. The aim of this study was to test, in a Chinese Han population from Beijing, whether the genetic variants in these four genes were associated with genetic predisposition to type 2 diabetes.Methods We studied the association of four representative SNPs in KCNJ11, ABCC8, PPARG and HNF4A by genotyping them using ABI SnaPshot(R) Multiplex System in 400 unrelated type 2 diabetic patients and 400 unrelated normoglycaemic subjects. Results rs5219(E23K) in KCNJ11 was associated with genetic susceptibility to type 2 diabetes (OR=1.400 with 95% Cl 1.117 1.755, P=0.004 under an additive model, OR=-1.652 with 95% Cl 1.086 2.513, P=0.019 under a recessive model,and OR=1.521 with 95% Cl 1.089 2.123, P=0.014 under a dominant model) after adjusting for sex and body mass index (BMI). We did not find evidence of association for ABCC8 rs1799854, PPARG rs1801282 (Pro12Ala) and HNF4A rs2144908. Genotype-phenotype correlation analysis revealed that rs1799854 in ABCC8 was associated with 2-hour postprandial insulin secretion (P=0.005) after adjusting for sex, age and BMI. Although no interactions between the four variants on the risk of type 2 diabetes were detected, the multiplicative interaction between PPARG Pro12Ala and HNF4A rs2144908 was found to be associated with 2-hour postprandial insulin (P=-0.004 under an additive model for rs2144908;and P=0.001 under a dominant model for rs2144908) after adjusting for age, sex and BMI, assuming a dominant model for PPARG Pro12Ala.Conclusions Our study replicated the association of rs5219 in KCNJ11 with type 2 diabetes in Chinese Han population in Beijing. And we also observed that ABCC8 as well as the interaction between PPARG and HNF4A may contribute to post-challenge insulin secretion.

  20. ASSOCIATION ANALYSIS OF POLYMORPHISMS OF ACE GENE AND AGT GENE WITH ESSENTIAL HYPERTENSION IN CHINESE HAN'S POPULATION

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    刘英; 周文郁; 侯淑琴; 邱长春

    1998-01-01

    Objective. To investigate whether the polymorphisms in the angiotensin converting enxyme (ACE) gene and angiotensinogen (AGT) gene are associated with essential hypertension. Methods. A case-contrul study was carried out using 103 hypertensive (HT) and 131 normotensive (NT) subjects. The insertion/daletion(I/D) polymorphism of the ACE gene and the methionine→threonine variant at position 235 (M235T) of the AGT gene were determined by the polymerase chain reaction (PCR) technique and PCR/restriction fragment length polymorphism (PCR/RFLP) analysis, respectively. Results. The differences of D allele frequency and genotype distribution of the ACE gene between NT and HT groups were statistically significant (X2= 18.12,P<0. 005). The T235 allele frequeacy of the AGT gene was 69% in NT Chinese group (approximately 1.38 to 1.64 fold that in Caucasians), and was greater in female HT than in NT (0.82 vs 0. 72, X2=8. 1,P<0.025). A corralation between M235T molecular variant of the AGT gene and I/D molecular variant of ACE gene to hypertension was found. Concluions. The possession of D allele of the ACE gene might be a marker for predisposition to hypertension. The T235 allele of the AGT gene was more common in Chinese than in Caucasians, and might contribute to the risk for hypertension in female Chinese.

  1. Evidence for association between Disrupted-in-schizophrenia 1 (DISC1 gene polymorphisms and autism in Chinese Han population: a family-based association study

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    Ruan Yan

    2011-05-01

    Full Text Available Abstract Background Disrupted-in-Schizophrenia 1 (DISC1 gene is one of the most promising candidate genes for major mental disorders. In a previous study, a Finnish group demonstrated that DISC1 polymorphisms were associated with autism and Asperger syndrome. However, the results were not replicated in Korean population. To determine whether DISC1 is associated with autism in Chinese Han population, we performed a family-based association study between DISC1 polymorphisms and autism. Methods We genotyped seven tag single nucleotide polymorphisms (SNPs in DISC1, spanning 338 kb, in 367 autism trios (singleton and their biological parents including 1,101 individuals. Single SNP association and haplotype association analysis were performed using the family-based association test (FBAT and Haploview software. Results We found three SNPs showed significant associations with autism (rs4366301: G > C, Z = 2.872, p = 0.004; rs11585959: T > C, Z = 2.199, p = 0.028; rs6668845: A > G, Z = 2.326, p = 0.02. After the Bonferroni correction, SNP rs4366301, which located in the first intron of DISC1, remained significant. When haplotype were constructed with two-markers, three haplotypes displayed significant association with autism. These results were still significant after using the permutation method to obtain empirical p values. Conclusions Our study provided evidence that the DISC1 may be the susceptibility gene of autism. It suggested DISC1 might play a role in the pathogenesis of autism.

  2. Enzyme Kinetics Studies of Nucleoside Diphosphate Kinase in Human Erythrocytes and Frequency Distribution in Healthy Subjects and Transplant Recipients in Chinese Han Population

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    Rufei Shen

    2015-09-01

    Full Text Available Nucleoside diphosphate kinase (NDPK, as a house-keeping protein, involves in various molecular processes including signal transduction, energy and drug metabolism. The main objective was to investigate NDPK kinetics in human erythrocytes and to monitor the frequency distribution of NDPK activity levels in Chinese healthy subjects and transplant recipients. METHODS: NDPK activity in erythrocytes was detected by a validated ion-pair high-performance liquid chromatogram method. NDPK kinetics studies were carried out systematically. NDPK activity levels were determined in 500 healthy subjects, 250 kidney and 250 liver transplant recipients in Chinese Han population. RESULTS: Thermal and pH stability studies indicated NDPK was relatively stable at temperature 30-45ºC and pH 6.0-9.0. In substrate dependency study, the apparent Michaelis-Menten constant (Km and maximum velocity of enzymatic reaction (Vmax increased with concentration of substrates. Meanwhile, in product inhibition study, with the increasing concentration of dATP, the Vmax of dADP decreased with constant Km and Km of dGTP increased with constant Vmax. NDPK activity levels revealed a 7-fold variability and were not normally distributed in all groups. NDPK activity levels were significantly (P<0.05 higher in transplant group than those in health group. Additionally, much higher NDPK activity levels had been shown (P<0.001 in liver transplant recipients when compared to kidney transplant cases. CONCLUSIONS: NDPK kinetics studies indicated substrate dependency of NDPK and a “ping-pong” mechanism for production inhibition. Skewness distributions of NDPK activity levels were shown in the study population. The transplant recipients showed higher NDPK activity levels when compared to healthy subjects.

  3. The association between gene polymorphism of TCF7L2 and type 2 diabetes in Chinese Han population: a meta-analysis.

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    Haoying Dou

    Full Text Available In recent years, it has been widely accepted that transcription factor 7-like 2 (TCF7L2 is associated with type 2 diabetes mellitus (T2DM in multiple ethnic groups, especially its single nucleotide polymorphisms of rs7903146C/T, rs12255372G/T and rs290487T/C. However, the results previously obtained in Chinese Han population are often inconsistent. For clearing this issue, herein we performed meta-analysis based on the reports that can be found to assess the association. In the meta-analysis, Odds ratio (OR and 95% confidence interval (95% CI were calculated with random-effect model or fixed-effect model based on the heterogeneity analysis. The quality of included studies was evaluated by using the Newcastle-Ottawa Scale. The sensitivity analysis was used to confirm the reliability and stability of the meta-analysis. In total, 20 case-control studies with 9122 cases of T2DM and 8017 controls were included. Among these case-control studies, we selected 13 ones on rs7903146 C/T, 5 ones on rs12255372 G/T, 8 ones on rs290487 T/C. The results indicated that rs7903146C/T polymorphism was significantly associated with T2DM (T vs. C, OR = 1.73, 95% CI = 1.39-2.16. There was no evidence that rs12255372G/T and rs290487T/C polymorphisms increased T2DM risk (T vs. G, OR = 1.77, 95% CI = 0.88-3.56; C vs. T, OR = 1.08, 95% CI = 0.93-1.25. Subgroup analysis of different regions proved the relationship between rs7903146C/T polymorphism and T2DM risk in both the northern and the southern China. The association of rs290487 with T2DM was affected by body mass index, whereas the association of rs7903146 and rs290487 with T2DM was influenced neither by age nor by sex. In conclusion, this study indicated that the rs7903146C/T polymorphism of the TCF7L2 gene had a significant effect on T2DM risk in Chinese Han population, with rs12255372G/T and rs290487T/C polymorphisms showing no significant effect.

  4. Association Study of N-Methyl-D-Aspartate Receptor Subunit 2B (GRIN2B Polymorphisms and Schizophrenia Symptoms in the Han Chinese Population.

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    Yongfeng Yang

    Full Text Available Schizophrenia (SZ is a common and complex psychiatric disorder that has a significant genetic component. The glutamatergic system is the major excitatory neurotransmitter system in the central nervous system, and is mediated by N-methyl-D-aspartate (NMDA receptors. Disturbances in this system have been hypothesized to play a major role in SZ pathogenesis. Several studies have revealed that the NMDA receptor subunit 2B (GRIN2B potentially associates with SZ and its psychiatric symptoms. In this study, we performed a case-control study to identify polymorphisms of the GRIN2B gene that may confer susceptibility to SZ in the Han Chinese population. Thirty-four single nucleotide polymorphisms (SNPs were genotyped in 528 paranoid SZ patients and 528 control subjects. A significant association was observed in allele and genotype between SZ and controls at rs2098469 (χ2 = 8.425 and 4.994; p = 0.025 and 0.014, respectively. Significant associations were found in the allele at rs12319804 (χ2 = 4.436; p = 0.035, as well as in the genotype at rs12820037 and rs7298664 between SZ and controls (χ2 = 11.162 and 38.204; p = 0.003 and 4.27×10(-8, respectively. After applying the Bonferroni correction, rs7298664 still had significant genotype associations with SZ (p = 1.71×10(-7. In addition, rs2098469 genotype and allele frequencies, and 12820037 allele frequencies were nominally associated with SZ. Three haplotypes, CGA (rs10845849-rs12319804-rs10845851, CC (rs12582848-rs7952915, and AAGAC (rs2041986-rs11055665-rs7314376-rs7297101-rs2098469, had significant differences between SZ and controls (χ2 = 4.324, 4.582, and 4.492; p = 0.037, 0.032, and 0.034, respectively. In addition, three SNPs, rs2098469, rs12820037, and rs7298664, were significantly associated with cognition factors PANSS subscores in SZ (F = 16.799, 7.112, and 13.357; p = 0.000, 0.017, and 0.000, respectively. In conclusion, our study provides novel evidence for an association between GRIN2B

  5. Association Study of N-Methyl-D-Aspartate Receptor Subunit 2B (GRIN2B) Polymorphisms and Schizophrenia Symptoms in the Han Chinese Population

    Science.gov (United States)

    Zhang, Hongxing; Yang, Ge; Wang, Xiujuan; Ding, Minli; Jiang, Tianzi; Lv, Luxian

    2015-01-01

    Schizophrenia (SZ) is a common and complex psychiatric disorder that has a significant genetic component. The glutamatergic system is the major excitatory neurotransmitter system in the central nervous system, and is mediated by N-methyl-D-aspartate (NMDA) receptors. Disturbances in this system have been hypothesized to play a major role in SZ pathogenesis. Several studies have revealed that the NMDA receptor subunit 2B (GRIN2B) potentially associates with SZ and its psychiatric symptoms. In this study, we performed a case–control study to identify polymorphisms of the GRIN2B gene that may confer susceptibility to SZ in the Han Chinese population. Thirty-four single nucleotide polymorphisms (SNPs) were genotyped in 528 paranoid SZ patients and 528 control subjects. A significant association was observed in allele and genotype between SZ and controls at rs2098469 (χ2 = 8.425 and 4.994; p = 0.025 and 0.014, respectively). Significant associations were found in the allele at rs12319804 (χ2 = 4.436; p = 0.035), as well as in the genotype at rs12820037 and rs7298664 between SZ and controls (χ2 = 11.162 and 38.204; p = 0.003 and 4.27×10-8, respectively). After applying the Bonferroni correction, rs7298664 still had significant genotype associations with SZ (p = 1.71×10-7). In addition, rs2098469 genotype and allele frequencies, and 12820037 allele frequencies were nominally associated with SZ. Three haplotypes, CGA (rs10845849—rs12319804—rs10845851), CC (rs12582848—rs7952915), and AAGAC (rs2041986—rs11055665—rs7314376—rs7297101—rs2098469), had significant differences between SZ and controls (χ2 = 4.324, 4.582, and 4.492; p = 0.037, 0.032, and 0.034, respectively). In addition, three SNPs, rs2098469, rs12820037, and rs7298664, were significantly associated with cognition factors PANSS subscores in SZ (F = 16.799, 7.112, and 13.357; p = 0.000, 0.017, and 0.000, respectively). In conclusion, our study provides novel evidence for an association between

  6. Lack of association between four SNPs in the SLC22A3-LPAL2-LPA gene cluster and coronary artery disease in a Chinese Han population: a case control study

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    Lv Xiaofei

    2012-10-01

    Full Text Available Abstract Background Lipoprotein (a (Lp [a] is known being correlated with coronary artery disease (CAD. The SLC22A3-LPAL2-LPA gene cluster, relating with modulating the level of plasma Lp (a, has recently been reported to be associated with CAD in Caucasians. The purpose of this study was to verify whether this finding can be expanded to the Chinese Han population. Methods and Results Using a Chinese Han sample, which consisted of 1012 well-characterized CAD patients and 889 healthy controls, we tested the associations of four SNPs (rs2048327, rs3127599, rs7767084 and rs10755578 in the SLC22A3-LPAL2-LPA gene cluster, and their inferred haplotypes with the risk of CAD. Allelic, genotypic and haplotype association analyses all showed that the gene cluster was not associated with CAD in this Chinese Han sample. Conclusions We for the first time explored the association of the four SNPs in the SLC22A3-LPAL2-LPA gene cluster with CAD in a large Chinese Han sample. Nevertheless, this study did not reveal any significant evidence of this gene cluster to increase the risk of CAD in this population.

  7. A SNP in pri-miR-10a is associated with recurrent spontaneous abortion in a Han-Chinese population.

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    Li, Ying; Wang, Xue-Qin; Zhang, Lu; Lv, Xiao-Dan; Su, Xing; Tian, Shi; Liu, Chun-Mei; Ma, Xu; Xia, Hong-Fei

    2016-02-16

    MicroRNA-10a (miR-10a) has a wide range of functions in nearly all mammalian tissues and is involved in the occurrence of many diseases. However, it remains unknown whether miR-10a is associated with human recurrent spontaneous abortion (RSA). In this study, we found that rs3809783 A > T in miR-10a coding region was significantly associated with the increase of the risk of human unexplained RSA (URSA) acquisition in a Han-Chinese population. The T allele of rs3809783 hindered the production of mature miR-10a. A to T substitution in miR-10a rs3809783 repressed cell proliferation and migratory capacity. Further investigation discovered that Bcl-2-interacting mediator (Bim) was the functional target of miR-10a and inversely regulated Bim expression. Dual-luciferase assay indicated that A allele in miR-10a rs3809783 could more effectively suppress Bim expression than T allele. In addition, A to T substitution in miR-10a rs3809783 attenuated the sensibility of cells to progesterone and its antagonist mifepristone. Collectively, our data suggest that rs3809783 A > T in pri-miR-10a may be conductive to the genetic predisposition to RSA by disrupting the production of mature miR-10a and reinforcing the expression of Bim. PMID:26824181

  8. The European GWAS-identified risk SNP rs457717 within IQGAP2 is not associated with age-related hearing impairment in Han male Chinese population.

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    Luo, Huajie; Wu, Hao; Shen, Hailian; Chen, Haifeng; Yang, Tao; Huang, Zhiwu; Jin, Xiaojie; Pang, Xiuhong; Li, Lei; Hu, Xianting; Jiang, Xuemei; Fan, Zhuping; Li, Jiping

    2016-07-01

    This study aimed to test the association between the European GWAS-identified risk IQGAP2 SNP rs457717 (A>G) and age-related hearing impairment (ARHI) in a Han male Chinese (HMC) population. A total of 2420 HMC subjects were divided into two groups [group 70+: >70 years (n = 1306), and group 70-: ≤70 years (n = 1114)]. The participants were categorised into case and control groups according to Z high scores for group 70- and the severity of hearing loss and different audiogram shapes identified by K-means cluster analysis for group 70+. The IQGAP2 tagSNP rs457717 was genotyped in accordance with the different ARHI phenotypes. The genotype distributions of IQGAP2 (AA/AG/GG) were not significantly different between the case and control groups (P = 0.613 for group 70-; P = 0.602 for group 70+). Compared with genotype AA, the ORs of genotypes AG and GG for ARHI were not significantly different following adjustment for other environmental risk factors. We demonstrated that the IQGAP2 TagSNP rs457717 (A/G) was not associated with ARHI in HMC individuals. PMID:26187738

  9. A meta-analysis of the association between TNF-α -308G>A polymorphism and type 2 diabetes mellitus in Han Chinese population.

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    Zheng-hui Liu

    Full Text Available OBJECTIVE: A meta-analysis was applied to evaluate the associations between tumor necrosis factor-α (TNF-α -308G>A (rs1800629 polymorphism and type 2 diabetes mellitus (T2DM. METHODS: Hardy-Weinberg equilibrium (HWE was employed to test genetic equilibrium among the genotypes of the selected literature. Power analysis was performed with the Power and Sample Size Calculation (PS program. A fixed or random effect model was used on the basis of heterogeneity. Publication bias was quantified and examined with the Begg's funnel plot test and Egger's linear regression test. The meta-analysis was performed with Review Manager 5.1 and Stata 11.0. RESULTS: There were 10 studies including 1425 T2DM patients and 1116 healthy control subjects involved in this meta-analysis. No significant publication bias was found in the studies. The pooled ORs (95% CIs for TNF-α -308G>A of A vs. G allele and GA+AA vs. GG genotype were 1.63 (1.17-2.25 and 1.47 (1.17-1.85, respectively. CONCLUSION: This meta-analysis result suggested that TNF-α -308G>A polymorphism was strongly associated with T2DM risk, and A allele at this locus might be a susceptibility allele for the development of T2DM in Han Chinese population.

  10. FADS gene polymorphisms confer the risk of coronary artery disease in a Chinese Han population through the altered desaturase activities: based on high-resolution melting analysis.

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    Si-Wei Li

    Full Text Available OBJECTIVE: We explored the desaturase activities and the correlation of fatty acid desaturases (FADS gene single nucleotide polymorphisms (SNPs with plasma fatty acid in coronary artery disease (CAD patients in a Chinese Han population. METHODS: Plasma fatty acids were measured by gas chromatography in CAD patients (n = 505 and a control group (n = 510. Five SNPs in the FADS gene were genotyped with high-resolution melting (HRM methods. RESULTS: After adjustment, D6D activity, assessed as arachidonic acid (AA, C20:4n-6/linoleic acid (LA, C18:2n-6, was higher in CAD patients (pT and rs174460 C>T were different between the two groups. The rs174537 T allele was associated with a lower risk of CAD [OR 0.743, 95% CI (0.624, 0.884, p = 0.001]. Carriers of the rs174460 C allele were associated with a higher risk of CAD [OR 1.357, 95% CI (1.106, 1.665, p = 0.003]. CONCLUSIONS: We firstly report that the rs174460 C allele is associated with a higher risk of CAD, and confirm that the rs174537 T allele is associated with a lower risk of CAD. Our results indicate that FADS gene polymorphisms are likely to influence plasma fatty acid concentrations and desaturase activities.

  11. Genetic variants in PCSK1 gene are associated with the risk of coronary artery disease in type 2 diabetes in a Chinese Han population: a case control study.

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    Xiaowei Wei

    Full Text Available BACKGROUND: Insulin and glucagon-like peptide 1 (GLP-1, converted by proprotein convertase 1 (PC1/3 from proinsulin and proglucagon, are associated with type 2 diabetes (T2DM and coronary artery disease (CAD. The aim of this study is to investigate the association of PCSK1 gene, which encodes PC1/3, with the risk of CAD in Chinese patients with T2DM. METHODS: We selected and genotyped 5 haplotype-tagging single nucleotide polymorphisms (SNPs at PCSK1 gene (across 39873bp locus in a case-control study of Chinese Han population involving 425 diabetic patients (62.1% male, mean age 63.2 years with CAD as positive cases and 258 diabetic patients (44.2% male, mean age 62.0 years without CAD as controls. RESULTS: The allele frequencies at rs3811951 were significantly different between cases and controls (30.7% vs. 37.2%, with the allele G associated with decreased risk for CAD (OR = 0.75, 95% CI = 0.59-0.94, p = 0.013. In recessive inheritance mode, the carriers of GG had a lower risk (OR = 0.50, 95%CI = 0.31-0.82, p = 0.005, even after adjusted for gender, age, BMI and smoking (OR = 0.43, 95%CI = 0.24-0.77, p = 0.004. The carriers of the minor allele A at rs156019 had a higher risk (OR = 1.66, 95%CI = 1.10-2.50, p = 0.016 after adjustment in dominant inheritance mode. The SNP rs6234 was also significantly associated with CAD risk in women, with the carriers of the minor allele G at rs6234 associated with a reduced CAD risk in recessive inheritance mode (OR = 0.42, 95% CI = 0.18-0.95, p = 0.036 after adjustment. CONCLUSIONS: Our results found that common genetic variants in PCSK1 were associated with CAD in Chinese patients with T2DM.

  12. MADD-FOLH1 Polymorphisms and Their Haplotypes with Serum Lipid Levels and the Risk of Coronary Heart Disease and Ischemic Stroke in a Chinese Han Population

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    Dong-Feng Wu

    2016-04-01

    Full Text Available This study aimed to detect the association of the MADD-FOLH1 single nucleotide polymorphisms (SNPs and their haplotypes with the risk of coronary heart disease (CHD and ischemic stroke (IS in a Chinese Han population. Six SNPs of rs7395662, rs326214, rs326217, rs1051006, rs3736101, and rs7120118 were genotyped in 584 CHD and 555 IS patients, and 596 healthy controls. The genotypic and allelic frequencies of the rs7395662 SNP were different between controls and patients, and the genotypes of the rs7395662 SNP were associated with the risk of CHD and IS in different genetic models. Six main haplotypes among the rs1051006, rs326214, rs326217, rs3736101, and rs7120118 SNPs were detected in our study population, the haplotypes of G-G-T-G-C and G-A-T-G-T were associated with an increased risk of CHD and IS, respectively. The subjects with rs7395662GG genotype in controls had higher triglyceride (TG and lower high-density lipoprotein cholesterol (HDL-C levels than the subjects with AA/AG genotypes. Several SNPs interacted with alcohol consumption to influence serum TG (rs326214, rs326217, and rs7120118 and HDL-C (rs7395662 levels. The SNP of rs3736101 interacted with cigarette smoking to modify serum HDL-C levels. The SNP of rs1051006 interacted with body mass index ≥24 kg/m2 to modulate serum low-density lipoprotein cholesterol levels. The interactions of several haplotypes and alcohol consumption on the risk of CHD and IS were also observed.

  13. A longitudinal cohort based association study between uric acid level and metabolic syndrome in Chinese Han urban male population

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    Zhang Qian

    2012-06-01

    Full Text Available Abstract Background It has been recently demonstrated that serum uric acid (UA is associated with metabolic syndrome (MetS or its related clinical indications based on cross-sectional or prospective cohort studies. Nonetheless, due to the fact that UA level constantly fluctuates from time to time even for the person, using a single measure of UA level at baseline of those studies may not be sufficient for estimating the UA-Mets association. Methods To further estimate this time-dependent association, we fitted a generalized estimating equation (GEE regression model with data from a large-scale 6-year longitudinal study, which included 2222 participants aged > =25 years with an average of 3.5 repeated measures of UA per person in the Health Management Center of Shandong Provincial Hospital, Shandong, China. Results After adjusting for other potential confounding factors (i.e., total cholesterol, low-density lipoprotein, it was verified that time-dependent UA level was an independent risk factor for MetS (OR = 1.6920, p  Conclusions Serum UA level may serve as an important risk factor of MetS. Additionally, our study suggested that UA level be an independent risk factor to obesity, hypertension and dyslipidemia, but a protective factor to hyperglycemia. These findings are concordant with results from other studies on Asian populations, and jointly provide a basis to further develop a risk assessment model for predicting MetS using UA levels and other factors in China.

  14. Association studies of genomic variants with treatment response to risperidone, clozapine, quetiapine and chlorpromazine in the Chinese Han population.

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    Xu, Q; Wu, X; Li, M; Huang, H; Minica, C; Yi, Z; Wang, G; Shen, L; Xing, Q; Shi, Y; He, L; Qin, S

    2016-08-01

    Schizophrenia is a widespread mental disease with a prevalence of about 1% in the world population. Continuous long-term treatment is required to maintain social functioning and prevent symptom relapse of schizophrenia patients. However, there are considerable individual differences in response to the antipsychotic drugs. There is a pressing need to identify more drug-response-related markers. But most pharmacogenomics of schizophrenia have typically focused on a few candidate genes in small sample size. In this study, 995 subjects were selected for discovering the drug-response-related markers. A total of 77 single-nucleotide polymorphisms of 25 genes have been investigated for four commonly used antipsychotic drugs in China: risperidone, clozapine, quetiapine, and chlorpromazine. Significant associations with treatment response for several genes, such as CYP2D6, CYP2C19, COMT, ABCB1, DRD3 and HTR2C have been verified in our study. Also, we found several new candidate genes (TNIK, RELN, NOTCH4 and SLC6A2) and combinations (haplotype rs1544325-rs5993883-rs6269-rs4818 in COMT) that are associated with treatment response to the four drugs. Also, multivariate interactions analysis demonstrated the combination of rs6269 in COMT and rs3813929 in HTR2C may work as a predictor to improve the clinical antipsychotic response. So our study is of great significance to improve current knowledge on the pharmacogenomics of schizophrenia, thus promoting the implementation of personalized medicine in schizophrenia.The Pharmacogenomics Journal advance online publication, 18 August 2015; doi:10.1038/tpj.2015.61. PMID:26282453

  15. Genetic Variation in the REL Gene Increases Risk of Behcet's Disease in a Chinese Han Population but That of PRKCQ Does Not.

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    Feilan Chen

    Full Text Available Genome-wide association studies (GWAS and candidate gene studies have identified the REL and PRKCQ genes as risk loci for various autoimmune diseases. The purpose of the present study was to investigate the association of the REL and PRKCQ genes with Behcet's disease (BD in a Chinese Han population. A case-control study was conducted on three single nucleotide polymorphisms (SNPs, rs13031237, rs702873, and rs842647 of the REL gene and three SNPs (rs4750316, rs11258747, and rs947474 of the PRKCQ gene using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP in a total of 623 BD patients and 1,074 healthy controls. Multiple variables were assessed, including age, sex distribution, and extra-ocular findings. In the present study, the frequencies of rs842647 GG genotypes and rs842647 G alleles were significantly higher in patients than in controls and those of the rs842647 AG genotypes were lower in patients than in controls [GG genotype: Bonferroni corrected P-value for gender adjustment (Pc(a = 0.0074, odds ratio (OR = 1.63; G allele: Pc(a = 0.0072, OR = 1.57; AG genotype: Pc(a = 0.024, OR = 0.63, respectively]. No statistically significant differences in the frequencies of rs702873, rs13031237, rs4750316, rs11258747, and rs947474 between BD patients and controls were observed. Stratification analysis indicated that the REL rs842647 polymorphism was associated with BD patients with skin lesions. No significant association of the other five SNPs between BD patients with other extra-ocular findings, including genital ulcer, arthritis, and positive pathergy test results was found. The REL rs842647 polymorphism may be a susceptibility factor for BD pathogenesis and skin lesions, which indicate that c-Rel may be involved in the pathogenesis and skin lesions of BD through the NF-κB pathway.

  16. Serum IL-18 level, clinical symptoms and IL-18-607A/C polymorphism among chronic patients with schizophrenia in a Chinese Han population.

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    Zhang, Xiang Yang; Tan, Yun-Long; Chen, Da-Chun; Tan, Shu-Ping; Malouta, Michelle Z; Bernard, Jared D; Combs, Jessica L; Bhatti, Sarai; Davis, Michael C; Kosten, Thomas R; Soares, Jair C

    2016-06-01

    Literature suggests that alterations in the inflammatory and immune systems are involved in the pathogenesis of schizophrenia. Specifically, patients diagnosed with schizophrenia exhibit increased IL-18, a pleiotropic proinflammatory cytokine in type 1 T-helper (Th1) responses. The functional 607A/C promoter polymorphism of the IL-18 gene is also associated with the psychopathology of this disorder. However, no current study has explored its role in the clinical symptoms of schizophrenia as mediated through IL-18 levels. We recruited 772 inpatients with schizophrenia and 775 healthy controls in a Han Chinese population and genotyped the IL-18-607A/C polymorphism. Patient psychopathology was assessed using the Positive and Negative Syndrome Scale (PANSS). Serum IL-18 levels were measured in 80 patients and 93 healthy controls. Our results showed that there were no significant differences in the distribution of the allele and genotype frequencies between the patients and controls. Both increased IL-18 serum level and the IL-18-607A/C polymorphism were positively associated with the PANSS general psychopathology subscore and the PANSS total score. Moreover, interaction of increased IL-18 serum level and the IL-18-607A/C polymorphism influenced the clinical psychopathological symptoms, indicating that association of IL-18 level with the PANSS general psychopathology subscale or the total scores was present only among patients carrying the C allele. We demonstrate an association between the IL-18-607A/C variant and clinical psychopathological symptoms in schizophrenia. Findings suggest that the association between higher IL-18 levels and clinical symptoms in schizophrenia is dependent on the IL-18-607A/C polymorphism. PMID:26974498

  17. Association of Single Nucleotide Polymorphisms in the Apoptosis-Related Genes TP63 and CD40 with Risk for Lung Cancer in a Chinese Han Population.

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    Tang, WenJun; Xue, Li; Yan, QiXing; Cai, ShaoXi; Bai, YuJie; Lin, Li; Lin, BiLin; Huang, MingLong; Yi, GuoHui; Li, Hui

    2016-01-01

    Apoptosis plays a critical role in tumorigenesis. TP63 inhibits the pro-apoptosis function of TP53, and CD40 increases expression of anti-apoptotic proteins. Two single nucleotide polymorphisms (SNPs), rs6790167 (g243059A>G) in intron 9 of TP63 and rs1535045 (g6194C>T) in intron 1 of CD40 respectively, may affect the susceptibility of lung cancer. To evaluate the association of these SNPs with lung cancer, we performed a case-control study with 258 patients, including 149 adenocarcinoma and 47 small cell lung cancer, and 270 controls. Genotyping was conducted using allele-specific polymerase chain reaction and pyrosequencing. We found that rs6790167 and rs1535045 are associated with the risk of lung adenocarcinoma (P = 0.048) and small cell lung cancer (P = 0.019), respectively. Non-smoking males carrying the GG genotype of rs6790167 had higher risk for lung adenocarcinoma than individuals carrying the AA genotype (OR = 7.58, 95% CI: 2.43-23.65). Compared to the TT genotype of rs1535045, non-smoking women with the CC genotype had higher risk for lung adenocarcinoma (OR = 4.20, 95% CI: 1.34-13.12). After stratified analysis based on clinical characteristics, the frequency of the CC genotype of rs1535045 was higher in patients at I-II stages (P = 0.013) or patients whose tumor markers were negative (P = 0.003). Individuals carrying both the GG genotype of rs6790167 and the CC genotype of rs1535045 were associated with significantly higher risk for lung adenocarcinoma. Thus, the polymorphisms in the TP63 and CD40 genes are associated with lung cancer in a Chinese Han population. PMID:27063419

  18. Genetic polymorphisms in MMP 2, 3, 7, and 9 genes and the susceptibility and clinical outcome of cervical cancer in a Chinese Han population.

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    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. PMID:26526578

  19. Differences in Platelet Indices between Healthy Han Population and Tibetans in China

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    Niu, Qian; Zhang, Ruke; Zhao, Min; Zeng, Sugen; Huang, Xunbei; Jiang, Hong; An, Youfang; Zhang, Luwen

    2013-01-01

    Introduction The present data on the evaluation of platelet (PLT) parameters in Chinese Han population and Tibetans are still limited. The objective of this study was to determine the differences in common PLT indices between Han population and Tibetans in China, through a large-scale investigation of healthy people. Methods 2131 Han people from Chengdu Plain, 1099 Tibetans from Qinghai-Tibet Plateau and 956 Plateau Han migrants were included in this study. All the subjects were healthy peopl...

  20. A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland.

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    Hu, Yakun; Deng, Libing; Zhang, Jie; Fang, Xin; Mei, Puming; Cao, Xuebing; Lin, Jiari; Wei, Yi; Zhang, Xiong; Xu, Renshi

    2016-09-01

    Genome-wide association studies (GWAS) on sporadic Parkinson's disease (sPD) are mainly conducted in European and American populations at present, and the Han populations of Chinese mainland (HPCM) almost have not been studied yet. Here, we conducted a pooling GWAS combining a pathway analysis with 862,198 autosomal single nucleotide polymorphisms of IlluminaHumanOmniZhongHua-8 in 250 sPD and 250 controls from HPCM precluded toxicant exposure, age, and heavy coffee drinking habit interference. We revealed that among the 22 potential loci implicated, PRDM2/KIAA1026 (kgp8090149), TSG1/MANEA (kgp154172), PDE10A (kgp8130520), MDGA2 (rs9323124), ATPBD4/LOC100288892 (kgp11333367), ZFP64/TSHZ2 (kgp4156164), PAQR3/ARD1B (kgp9482779), FLJ23172/FNDC3B (kgp760898), C18orf1 (kgp348599), FLJ43860/NCRNA00051 (kgp4105983), CYP1B1/C2orf58 (kgp11353523), WNT9A/LOC728728 (rs849898), ANXA1/LOC100130911 (rs10746953), FLJ35379/LOC100132423 (kgp9550589), PLEKHN1 (kgp7172368), DMRT2/SMARCA2 (kgp10769919), ZNF396/INO80C (rs1362858), C3orf67/LOC339902 (rs6783485), LOC285194/IGSF11 (rs1879553), FGF10/MRPS30 (rs13153459), BARX1/PTPDC1 (kgp6542803), and COL5 A2 (rs11186), the peak significance was at the kgp4105983 of FLJ43860 gene in chromosome 8, the first top strongest associated locus with sPD was PRDM2 (kgp8090149) in chromosome 1, and the 24 pathways including 100 significantly associated genes were strongly associated with sPD from HPCM. The 40 genes were shared by at least two pathways. The most possible associated pathways with sPD were axon guidance, ECM-receptor interaction, neuroactive ligand-receptor interaction, tight junction, focal adhesion, gap junction, long-term depression, drug metabolism-cytochrome P450, adherens junction, endocytosis, and protein digestion and absorption. Our results indicated that these loci, pathways, and their related genes might be involved in the pathogenesis of sPD from HPCM and provided some novel evidences for further searching the genetic

  1. Association Between P2RX7 Gene and Hepatocellular Carcinoma Susceptibility: A Case-Control Study in a Chinese Han Population.

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    Duan, Shaobo; Yu, Jie; Han, Zhiyu; Cheng, Zhigang; Liang, Ping

    2016-01-01

    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

  2. Dopamine receptor D2 and catechol-O-methyltransferase gene polymorphisms associated with anorexia nervosa in Chinese Han population: DRD2 and COMT gene polymorphisms were associated with AN.

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    Peng, Sufang; Yu, Shunying; Wang, Qian; Kang, Qing; Zhang, Yanxia; Zhang, Ran; Jiang, Wenhui; Qian, Yiping; Zhang, Haiyin; Zhang, Mingdao; Xiao, Zeping; Chen, Jue

    2016-03-11

    Dopamine receptor D2 (DRD2) and catechol-O-methyltransferase (COMT) are important in dopamine system which is proved to be associated with food-anticipatory behavior, food restriction, reward and motivation. This has made them good candidates for anorexia nervosa (AN). The aim of this work is to explore the roles of DRD2 (rs1800497) and COMT (rs4680, rs4633, rs4818) gene polymorphisms in the susceptibility of AN within the Chinese Han population. We recruited 260AN patients with DSM-IV diagnosis criteria, and 247 unrelated, normal weight controls. DRD2 (rs1800497) and COMT (rs4680, rs4633, rs4818) were genotyped in all subjects. We found rs1800497 and rs4633 were associated with the susceptibility of AN within the Chinese Han sample, and allele C of rs1800497 was a protective factor. There was a gene-gene interaction between rs1800497 of DRD2 gene and rs4633 of COMT gene. We concluded that rs1800497 and rs4633 play important roles in the AN susceptibility with respect to the Chinese Han population. The gene-gene interaction between DRD2 and COMT contributes to the risk of AN. PMID:26808641

  3. Complete blood count reference intervals for healthy Han Chinese adults.

    Directory of Open Access Journals (Sweden)

    Xinzhong Wu

    Full Text Available Complete blood count (CBC reference intervals are important to diagnose diseases, screen blood donors, and assess overall health. However, current reference intervals established by older instruments and technologies and those from American and European populations are not suitable for Chinese samples due to ethnic, dietary, and lifestyle differences. The aim of this multicenter collaborative study was to establish CBC reference intervals for healthy Han Chinese adults.A total of 4,642 healthy individuals (2,136 males and 2,506 females were recruited from six clinical centers in China (Shenyang, Beijing, Shanghai, Guangzhou, Chengdu, and Xi'an. Blood samples collected in K2EDTA anticoagulant tubes were analyzed. Analysis of variance was performed to determine differences in consensus intervals according to the use of data from the combined sample and selected samples.Median and mean platelet counts from the Chengdu center were significantly lower than those from other centers. Red blood cell count (RBC, hemoglobin (HGB, and hematocrit (HCT values were higher in males than in females at all ages. Other CBC parameters showed no significant instrument-, region-, age-, or sex-dependent difference. Thalassemia carriers were found to affect the lower or upper limit of different RBC profiles.We were able to establish consensus intervals for CBC parameters in healthy Han Chinese adults. RBC, HGB, and HCT intervals were established for each sex. The reference interval for platelets for the Chengdu center should be established independently.

  4. Molecular characterization of a Han Chinese family with essential hypertension.

    Science.gov (United States)

    Zhu, J F; Zhang, X; Ling, L

    2016-01-01

    Mutations in the mitochondrial genome have been found to be associated with essential hypertension. Here, we report the clinical and molecular characterization of a three-generation Han Chinese family with maternally inherited hypertension. Most strikingly, this pedigree exhibited a high penetrance of hypertension. Sequence analysis of the mitochondrial genome showed the presence of a homoplasmic T16189C mutation in the D-loop and the intergenic CO2/tRNA(Lys) 9-bp common deletion, as well as a set of polymorphisms belonging to the East Asia haplogroup B5b1. The well-known T16189C mutation, which is in the first hypervariable segment of the mitochondrial control region, is implicated to be associated with a wide range of clinical disorders. Moreover, the genetic polymorphism 9-bp common deletion is found to be associated with hepatocellular carcinoma in the Han Chinese population. Thus, the combination of T16189C mutation and the 9-bp deletion may have caused mitochondrial dysfunction and contributed to the development of essential hypertension in this Chinese family. PMID:27323027

  5. Relationship between the -455G/A and -148C/T polymorphisms in the beta-fibrinogen gene and cerebral infarction in the Xinjiang Uygur and Han Chinese populations

    Institute of Scientific and Technical Information of China (English)

    Xiaoning Zhang; Yanyun Li; Xuebing Guo; Lei Du; Jianhua Ma

    2012-01-01

    We sought to investigate the correlation between the -455G/A and -148C/T polymorphisms of the β-fibrinogen gene and plasma fibrinogen levels in patients with cerebral infarction and in healthy subjects among the Xinjiang Uygur and Han Chinese populations, by using polymerase chain reaction-restriction enzyme digestion analysis.Results showed that there were no statistically significant differences in the distributions of the -455G/A genotype and allele frequency between the Uygurs and the Han.Plasma fibrinogen levels in cerebral infarction patients among the Uygurs and the Han were higher than those among healthy subjects.In particular, the frequencies of the -455G/A AA and -148C/T TT genotypes were significantly higher than in healthy subjects.Individuals carrying the A or T allele had a higher incidence of cerebral infarction compared with those carrying the G or C allele.Our experimental findings indicate that the -148C/T and -455G/A polymorphisms are associated with cerebral infarction in Xinjiang Uygur and Han Chinese subjects.The susceptibility- conferring alleles are -148T and -455A, and the susceptibility-conferring genotype is -455G/A + AA.

  6. Xue Han Zi: using multimedia to teach chinese

    OpenAIRE

    Lam, Sun; Oliveira, Alexandre Rocha; Lavender, Tony; Cabral, Luís; Marcos, Adérito

    2001-01-01

    As the Chinese-speaking areas are becoming the focus of the world economy, more and more people are attracted by their language and culture. The number of beginners in Chinese language is growing rapidly. Although the Chinese language has unique characteristics, there are still very few teaching and learning materials which serve the basic needs for starting the acquisition of Han Zi. A multimedia application, both in CD-ROM and on-line, can provide a virtual teacher for understanding a...

  7. Common variants on 17q25 and gene-gene interactions conferring risk of schizophrenia in Han Chinese population and regulating gene expressions in human brain.

    Science.gov (United States)

    Guan, L; Wang, Q; Wang, L; Wu, B; Chen, Y; Liu, F; Ye, F; Zhang, T; Li, K; Yan, B; Lu, C; Su, L; Jin, G; Wang, H; Tian, H; Wang, L; Chen, Z; Wang, Y; Chen, J; Yuan, Y; Cong, W; Zheng, J; Wang, J; Xu, X; Liu, H; Xiao, W; Han, C; Zhang, Y; Jia, F; Qiao, X; Zhang, D; Zhang, M; Ma, H

    2016-09-01

    Recently, two genome-wide association studies (GWASs) of schizophrenia (SCZ) in Han Chinese identified several susceptibility loci. Replication efforts aiming to validate the GWAS findings were made and focused on the top hits. We conducted a more extensive follow-up study in an independent sample of 1471 cases and 1528 matched controls to verify 26 genetic variants by including nine top single-nucleotide polymorphisms (SNPs) that reached genome-wide significance and 17 promising SNPs nominated in the initial discovery phase. rs8073471 in an intron of tubulin-folding cofactor D (TBCD) obtained nominal significance (Phuman central nervous system. We observed that rs3744165 × rs8073471 interaction modulated the expression profile of TEAD3 (P=1.87 × 10(-8)), SH3TC2 (P=2.00 × 10(-8)), KCNK9 (P=5.20 × 10(-7)) and PPDPF (P=1.13 × 10(-6)) in postmortem cortex tissue; EFNA1 (P=7.26 × 10(-9)), RNU4ATAC (P=2.32 × 10(-8)) and NUPL2 (P=6.79 × 10(-8)) in cerebellum tissue. To the best of our knowledge, our study is the first one that links TBCD and ZNF750 mutations to SCZ susceptibility and to the transcript levels in human brain tissues. Further efforts are needed to understand the role of those variants in the pathogenesis of SCZ. PMID:26728569

  8. -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.

    Science.gov (United States)

    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. PMID:26346037

  9. Prediabetes Is Associated with HNF-4α P2 Promoter Polymorphism rs1884613: A Case-Control Study in Han Chinese Population and an Updated Meta-Analysis

    OpenAIRE

    Changyi Wang; Sihan Chen; Tao Zhang; Zhongwei Chen; Shengyuan Liu; Xiaolin Peng; Jianping Ma; Xiaohong Zhong; Yanqiong Yan; Linlin Tang; Yifeng Mai; Liyuan Han; Shiwei Duan

    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...

  10. Association of ACE gene I/D polymorphism and diabetic nephropathy in Chinese Han population: a Meta-analysis%中国汉族人群糖尿病肾病ACE基因I/D多态性的Meta-分析

    Institute of Scientific and Technical Information of China (English)

    刘晓丹; 范秋灵; 姚丽; 朱新旺; 刘强; 王力宁

    2012-01-01

    [Objective] To evaluate the relationship between genetic polymorphism of angiotensin-converting enzyme (ACE) and diabetic nephropathy (DN) in Chinese Han population. [Methods] Databases including Pubmed, CNKI, CBM and WanFang Data were searched from their establishment to December 2011 to collect the literature about the relationship between genetic polymorphism of ACE and DN in Chinese Han population. Meta analysis by Stata11.0 was adopted to conduct consistency check and data merging, and to evaluate publication bias. [Results] Meta-analysis results showed that the pooled OR of DD genotype compared to DI+Ⅱ genotype under recessive model was 1.96(95%CI, 1.72~2.22), and the pooled OR value of DI+DD genotype compared to Ⅱ genotype under dominant model was 1.78(95% CI, 1.49~2.12), both with significant difference. [Conclusion] ACE gene I/D polymorphism is associated with susceptibility of DN in Chinese Han population.%[目的]综合评价中国汉族人群血管紧张素转换酶(angiotensin convertion enzyme,ACE)基因多态性与糖尿病肾病(diabetic nephropathy,DN)的相关性.[方法]通过检索文献数据库收集ACE基因多态性与中国汉族人群DN相关性的文献.应用Stata1 1.0统计学软件运用Meta-分析法对各研究结果进行一致性检验和数据合并,并评估发表偏倚.[结果]通过37项研究Meta分析,结果显示,隐性模型下DD基因型相对于DI+Ⅱ基因型的OR值为1.96(95%CI,1.72~2.22);显性模型下DI+DD基因型相对于Ⅱ基因型的OR值为1.78(95%CI,1.49 ~ 2.12),差异具有统计学意义.[结论]ACE基因I/D多态性与我国汉族人群DN的易感性相关.

  11. Rs4948496 within ARID5B gene is associated with clinical features of systemic lupus erythematosus in the Chinese Han population.

    Science.gov (United States)

    Jiang, Long; Wu, Jianping; Li, Weiran; Du, Juan; Wang, Wenjun; Zhu, Zhengwei; Gao, Jinping; Sheng, Yujun; Yin, Xianyong; Zheng, Xiaodong; Li, Hui; Li, Yang; Meng, Li; Fan, Xing; Liu, Shengxiu; Zeng, Ming; Wang, Zaixing; Cui, Yong; Tang, Huayang; Sun, Liangdan; Yang, Sen; Zhang, Xuejun

    2015-06-01

    In our previous meta-analysis of genome-wide association study, we identified the single nucleotide polymorphism (SNP) rs4948496 (P = 5.1 × 10(-11) , odds ratio [OR] = 0.85) within the ARID5B gene associated with systemic lupus erythematosus (SLE) in a Chinese population. To investigate its association with disease subphenotypes, we further analyzed the genotype data of rs4948496 in 4348 cases and 6679 controls from our previous meta-analysis and an independent replication cohort in this study. The SNP rs4948496 was significantly associated with SLE (P = 1.61 × 10(-5) , OR = 0.88, 95% confidence interval [CI] = 0.83-0.93) in our group. In case-only study, the genotype of rs4948496 was associated with antinuclear antibodies (P = 0.03, OR = 0.81, 95% CI = 0.68-0.98) and anti-RNP (P = 0.03, OR = 0.86, 95% CI = 0.76-0.99). This study showed that rs4948496 in ARID5B is associated with several subphenotypes of SLE and this gene may cause the complicacy of clinical features. PMID:25808444

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

    Science.gov (United States)

    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. PMID:25682306

  13. 新疆地区部分汉族职业人群症状自评量表常模建立%Establishment of SCL-90 norm for part of Han-Chinese occupational population in Xinjiang region

    Institute of Scientific and Technical Information of China (English)

    宁丽; 连玉龙; 刘继文

    2012-01-01

    目的 建立新疆地区部分汉族职业人群症状自评量表(SCL-90)常模,为当地职业人群的心理健康研究提供本底资料.方法 采用SCL-90对新疆2 246名石油工人、中小学教师、医生、银行职员、环境保护管理技术人员心理健康状况进行测查,计算信度、效度,并分析相关结果.结果 全量表内部一致性高达0.981,总体折半相关系数为0.944;各个分量表之间的相关系数为0.537 ~0.822,各分量表与总量表的相关系数为0.669 ~0.908;信度、效度良好.2 246名汉族职业人群SCL-90量表得分与全国常模比较,人际敏感得分低于全国常模(P<0.05);躯体化、强迫、抑郁、焦虑、敌对、精神病性因子得分均显著高于全国常模(P<0.05).各因子分、总分存在职业、年龄、工龄的差异.结论 新疆地区部分汉族职业人群SCL-90常模具有较高的内部一致性和较好的内容结构效度,可进行推广应用.%Objective To establish a SCL-90 norm for part of occupational population of Han-Chinese in Xinjiang region and to collect localized background information and data for further research on psychological health in this occupational group. Methods With SCL-90, the psychological health conditions were assessed among 2 246 Han-Chinese working people including oil workers, primary and middle school teachers, physicians, bank staff and environmental workers. The reliability, validity and correlation of the data were calculated and analyzed. Results The overall internal consistency value of the full scale was 0.981 and the split-half reliability coefficient was 0. 944; the correlation coefficients values between the subscales were varied from 0. 337 to 0. 822, the correlation coefficient values between the general scale and different subscales were varied from 0. 669 to 0. 908. Compared with the national norm of the SCL-90, the results of 2 246 Han-Chinese working people showed that the score of interpersonal

  14. Prediabetes Is Associated with HNF-4α P2 Promoter Polymorphism rs1884613: A Case-Control Study in Han Chinese Population and an Updated Meta-Analysis

    Science.gov (United States)

    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

  15. Prediabetes Is Associated with HNF-4α P2 Promoter Polymorphism rs1884613: A Case-Control Study in Han Chinese Population and an Updated Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Changyi Wang

    2014-01-01

    Full Text Available 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.

  16. Genetic Variants in Human Leukocyte Antigen-DP Influence Both Hepatitis C Virus Persistence and Hepatitis C Virus F Protein Generation in the Chinese Han Population

    Directory of Open Access Journals (Sweden)

    Xiaodong Xu

    2014-06-01

    Full Text Available Chronic hepatitis C is a serious liver disease that often results in cirrhosis or hepatocellular carcinoma. The aim of this study was to assess the association of human leukocyte antigen-DP (HLA-DP variants with risk of chronic hepatitis C virus (HCV or anti-F antibody generation. We selected two single nucleotide polymorphisms (SNPs in a region including HLA-DPA1 (rs3077 and HLA-DPB1 (rs9277534 and genotyped SNPs in 702 cases and 342 healthy controls from the Chinese population using TaqMan SNP genotyping assay. Moreover, the exon 2 of the HLA-DPA1 and HLA-DPB1 genes were amplified and determined by sequencing-based typing (SBT. The results showed that rs3077 significantly increased the risk of chronic HCV infection in additive models and dominant models (odds ratio (OR = 1.32 and 1.53. The rs3077 also contributed to decrease the risk of anti-F antibody generation in additive models and dominant models (OR = 0.46 and 0.56. Subsequent analyses revealed the risk haplotypes (DPA1*0103-DPB1*0501 and DPA1*0103-DPB1*0201 and protective haplotypes (DPA1*0202-DPB1*0501 and DPA1*0202-DPB1*0202 to chronic HCV infection. Moreover, we also found that the haplotype of DPA1*0103-DPB1*0201 and DPA1*0202-DPB1*0202 were associated with the anti-F antibody generation. Our findings show that genetic variants in HLA-DP gene are associated with chronic HCV infection and anti-F antibody generation.

  17. Mitochondrial DNA Haplogroups and the Risk of Sporadic Parkinson's Disease in Han Chinese

    OpenAIRE

    Ya-Fang Chen,; Wan-Jin Chen; Xiao-Zhen Lin; Qi-Jie Zhang; Jiang-Ping Cai; Chia-Wei Liou; Ning Wang

    2015-01-01

    Background: Mitochondrial dysfunction is linked to the pathogenesis of Parkinson′s disease (PD). However, the precise role of mitochondrial DNA (mtDNA) variations is obscure. On the other hand, mtDNA haplogroups have been inconsistently reported to modify the risk of PD among different population. Here, we try to explore the relationship between mtDNA haplogroups and sporadic PD in a Han Chinese population. Methods: Nine single-nucleotide polymorphisms, which define the major Asian mtDNA ...

  18. Analysis of Y-chromosomal biallelic potymorphisms in Sichuan Han of Chinese population%中国四川汉族人群Y染色体单核苷酸多态性分析

    Institute of Scientific and Technical Information of China (English)

    宋晓红; 张海军; 云力兵; 高爽; 王玉; 吴谨; 彦静; 李英碧; 侯一平

    2008-01-01

    Objective To evaluate the forensic utility of Y-single nucleotide polymorphisms(SNPs) markers.Methods Allele-specffic PCR,restriction enzyme digestion or direct PCR were performed to examine 10 different SNP loci on Y chromosome,namely M9,M15,M45,M89,M95,M122, M134, M145,M173 and P25 in 161 Chinese Han males.Results A total of 8 of the 10 SNIPs are reported to be polymorphic in Chincse.The gene diversity for the loci showing polymorphism ranged from 0.988/0.012-0.752/0.248,with a power of discrimination 0.094-0.373.Loci M122 and M134 were the most polymorphic markers in Chinese Hans.Nine different haplogroups with frequencies from 1.2%tO 51.6% were observed and 3 of the haplogroups-K * (x 02a,03,P),03 *(x 03e) and 03e were found in 75.2%of Chinese Hans.Conclusion A comprehensive gene diversity data of Y chromosome and haplogroups were obtained in Sichuan Han population.which will be served as the base for using these Y-SNP markers in forensic medicine and individual identification in Sichuan Hans.%目的 评估Y染色体单核苷酸多态性(single nucleotide polymorphisms,SNPs)遗传标记的法医学应用价值.方法 用等位基因特异性PCR,限制性酶切和直接扩增法检测了161名中国四川汉族人Y染色体上10个SNPs位点M9,M15,M45,M89,M95,M122,M134,M145,M173和P25的多态性.结果 有8个位点发现遗传多态性,多态性频率0.988/0.012~0.752/0.248.个人识别能力0.094~0.373,累积个人识别能力为0.8308,M122和M134在中国四川汉族人群中的多态性最高.按照国际Y染色体学会的命名原则,10个位点命名了9种单倍组型,单倍组型频率1.2%~52.2%,其中75.2%的中国四川汉族人主要是K*(XO2a,O3,P),O3*(XO3e)和O3e 3种单倍组型.结论 该研究获得了中国四川汉族人群Y染色体的10个SNPs位点的多态性频率分布及其构建的9种单倍组型,为Y-SNPs做为法医遗传学个人识别和亲子鉴定的遗传标记奠定了基础.

  19. RELN基因rs12705169位点与女性偏执型精神分裂症关联%Positive association between rs12705169 in RELN and female schizophrenia patients in a Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    郭伟云; 张红星; 赵晶媛; 宋学勤; 李文强; 郝伟; 吕路线

    2012-01-01

    目的 以中国汉族偏执型精神分裂症患者为研究对象,重复验证RELN(Reelin)基因单核苷酸多态性与精神分裂症的关联性.方法 以美国精神障碍诊断与统计手册第四版为诊断标准(Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition,DSM-Ⅳ)在河南省北部地区收集326 例偏执型精神分裂症患者(男女各半),在同一地域招募健康体检者334 名(男女各半) 作为对照,检测RELN 基因rs12705169、rs11764507 和rs17157643 单核苷酸多态性位点.结果 仅发现患者组和对照组之间rs12705169 位点的基因型和等位基因频率差异有统计学意义(P < 0.01).按性别分层后进一步分析,rs12705169 在女性患者和对照之间基因型和基因频率分布差异具有统计学意义(CC:OR = 0.27,95%CI = 0.18 ~ 0.45; AC:OR = 0.43,95%CI = 0.29 ~ 0.63,P < 0.01).结论 RELN 基因多态性与中国女性偏执型汉族精神分裂症存在关联,RELN 基因可能是精神分裂症的易感基因.%Objective To analyze the association between single nucleotide polymorphisms (SNPs) , in RELN gene and paranoid schizophrenia, and to determine if the RELN gene is a susceptibility gene for schizophrenia in the Han Chinese population. Methods The participants consisted of 326 patients with paranoid schizophrenia (163 males and 163 females) and 334 healthy controls (167 males and 167 females). All patients were unrelated Han Chinese born and living in the North Henan province. The concurrent diagnoses were made by psychiatrists according to the Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition (DSM-IV) (1994). Healthy controls were recruited from volunteers with simple nonstructured interview performed by psychiatrists. Three SNPs were selected and genotyped. Genotyping was performed using the Real-time PCR. Genotype and allele frequencies were compared between patients and controls to assess the association to schizophrenia. Results A

  20. Genetic polymorphism of 17 Y-STR loci in Han Chinese living in Lanzhou.

    Science.gov (United States)

    Sun, Hong-bing; Yang, Xin; Ha, Fei; Zhang, Zi-long

    2013-12-01

    The genetic polymorphism across 17 Y-STR loci in a population of Han Chinese in Lanzhou was investigated. Haplotypes and allele frequencies for the 17 Y-chromosomal STRs loci DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATA H4, DYS437, DYS438 and DYS448 were determined in 500 healthy unrelated autochthonous males from Lanzhou. The results showed that no shared haplotypes were observed. Gene diversity values ranged from 0.3987 (DYS391) to 0.9740 (DYS385a,b). It was concluded that these loci will be very useful for human identification in forensic cases and paternity tests within the Han Chinese population inhabiting Lanzhou. PMID:24337856

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

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    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. PMID:27084066

  2. Polymorphisms in C-Reactive Protein and Glypican-5 Are Associated with Lung Cancer Risk and Gartrokine-1 Influences Cisplatin-Based Chemotherapy Response in a Chinese Han Population

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    Shuo Zhang

    2015-01-01

    Full Text Available The role of genetics in progression of cancer is an established fact, and susceptibility risk and difference in outcome to chemotherapy may be caused by the variation in low-penetrance alleles of risk genes. We selected seven genes (CRP, GPC5, ACTA2, AGPHD1, SEC14L5, RBMS3, and GKN1 that previously reported link to lung cancer (LC and genotyped single nucleotide polymorphisms (SNPs of these genes in a case-control study. A protective allele “C” was found in rs2808630 of the C-reactive protein (CRP. Model association analysis found genotypes “T/C” and “C/C” in the dominant model and genotype “T/C” in the overdominant model of rs2808630 associated with reduced LC risk. Gender-specific analysis in each model showed that genotypes “T/T” and “C/C” in rs2352028 of the Glypican 5 (GPC5 were associated with increased LC risk in males. Logistic regression analysis showed “C/T” genotype carriers of rs4254535 in the Gastrokine 1 (GKN1 had less likelihood to have chemotherapy response. Our results suggest a potential association between CRP and GPC5 variants with LC risk; variation in GKN1 is associated with chemotherapy response in the Chinese Han population.

  3. Association Between Single Nucleotide Polymorphisms in DNA Polymerase Kappa Gene and Breast Cancer Risk in Chinese Han Population: A STROBE-Compliant Observational Study.

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    Dai, Zhi-Jun; Liu, Xing-Han; Ma, Yun-Feng; Kang, Hua-Feng; Jin, Tian-Bo; Dai, Zhi-Ming; Guan, Hai-Tao; Wang, Meng; Liu, Kang; Dai, Cong; Yang, Xue-Wen; Wang, Xi-Jing

    2016-01-01

    DNA polymerases are responsible for ensuring stability of the genome and avoiding genotoxicity caused by a variety of factors during DNA replication. Consequently, these proteins have been associated with an increased cancer risk. DNA polymerase kappa (POLK) is a specialized DNA polymerase involved in translesion DNA synthesis (TLS) that allows DNA synthesis over the damaged DNA. Recently, some studies investigated relationships between POLK polymorphisms and cancer risk, but the role of POLK genetic variants in breast cancer (BC) remains to be defined. In this study, we aimed to evaluate the effects of POLK polymorphisms on BC risk.We used the Sequenom MassARRAY method to genotype 3 single nucleotide polymorphisms (SNPs) in POLK (rs3213801, rs10077427, and rs5744533), in order to determine the genotypes of 560 BC patients and 583 controls. The association of genotypes and BC was assessed by computing the odds ratio (OR) and 95% confidence intervals (95% CIs) from logistic regression analyses.We found a statistically significant difference between patient and control groups in the POLK rs10077427 genotypic groups, excluding the recessive model. A positive correlation was also found between positive progesterone receptor (PR) status, higher Ki67 index, and rs10077427 polymorphism. For rs5744533 polymorphism, the codominant, dominant, and allele models frequencies were significantly higher in BC patients compared to healthy controls. Furthermore, our results indicated that rs5744533 SNP has a protective role in the postmenopausal women. However, we failed to find any associations between rs3213801 polymorphism and susceptibility to BC.Our results indicate that POLK polymorphisms may influence the risk of developing BC, and, because of this, may serve as a prognostic biomarker among Chinese women. PMID:26765445

  4. Population data of 17 short tandem repeat loci in 2923 individuals from the Han population of Nantong in East China.

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    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. PMID:26932871

  5. The association between common genetic variation in the FTO gene and metabolic syndrome in Han Chinese

    Institute of Scientific and Technical Information of China (English)

    WANG Tong; ZHANG Li-li; ZHANG Yun; SUN Xiao-fang; ZHANG Qian; HUANG Yi; XIAO Xin-hua; WANG Duen-mei; DIAO Cheng-ming; ZHANG Feng; XU Ling-ling; ZHANG Yong-biao; LI Wen-hui

    2010-01-01

    Background Genome-wide association studies for type 2 diabetes mellitus (T2DM) identified FTO gene as a locus conferring increased risk for common obesity in many populations with European ancestry. However, the involvement of FTO gene in obesity or T2DM related metabolic traits has not been consistently established in Chinese populations. The objective of this study was to investigate the association of FTO genetic polymorphisms with metabolic syndrome (MetS) in Han Chinese.Methods We tested 41 FTO single nucleotide polymorphisms (SNPs) for association between FTO and MetS-related traits. There were a total of 236 unrelated subjects (108 cases and 128 controls), grouped according to the International Diabetes Federation (IDF) criteria.Results Of the 41 SNPs examined, only SNP rs8047395 exhibited statistical significance (P=0.026) under a recessive model, after Bonferroni adjustment for multiple testing (OR 1.64, 95% CI 1.11-2.42; P=0.014). The common distributions of this polymorphism among Chinese-with a minor allele frequency (MAF) of 36% in the control group versus 48% in the MetS group-greatly improved our test power in a relatively small sample size for an association study. Previously identified obesity-(or T2DM-) associated FTO SNPs were less common in Han Chinese and were not associated with MetS in this study. No significant associations were found between our FTO SNPs and any endophenotypes of MetS.Conclusions A more common risk-conferring variant of FTO for MetS was identified in Han Chinese. Our study substantiated that genetic variations in FTO locus are involved in the pathogenesis of MetS.

  6. Evaluation of Four Genetic Variants in Han Chinese Subjects with High Myopia

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    Zimeng Ye

    2015-01-01

    Full Text Available High myopia is one of the leading causes of blindness worldwide. However, the exact etiology of high myopia remains unraveled despite numerous attempts of elucidation. Previous genome-wide association study (GWAS has revealed that four single nucleotide polymorphisms (SNPs, including rs2969180, rs1652333, rs9307551, and rs7837791, were associated with high myopia in Caucasians. The present study was conducted to investigate whether these genetic variants were associated with high myopia in Han Chinese. These four SNPs were genotyped by SNaPshot method in a Han Chinese cohort composed of 827 patients with high myopia and 988 healthy controls. Among the SNPs genotyped, only rs9307551 was found to be significantly associated with high myopia in this study. Carriers of rs9307551A allele, AA, and AC genotypes had an increased risk of high myopia (OR = 1.33, 95% CI 1.14–1.54; OR = 1.75, 95% CI 1.28–2.38; OR = 1.59, 95% CI 1.24–2.01, resp.. Interestingly, when split by gender, the association between rs9307551 and high myopia proved to be gender-specific with significance observed only in females but not males. These findings suggested that the SNP of rs9307551 showed a gender-specific association with high myopia in the Han Chinese population. In addition, LOC100506035, a lincRNA gene, might play a crucial role in the susceptibility to high myopia.

  7. The association between paternal age and schizophrenia in a Chinese Han population%父亲生育年龄与子女罹患精神分裂症的相关性分析

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    吴月静; 刘祥; 赵高峰; 马小红; 李涛

    2011-01-01

    Objective To investigate whether advanced paternal age is related to an increased risk of schizophrenia in Chinese Han population. Methods A case-control design study was performed. Three hundred and fifty-one patients with schizophrenia and 199 unrelated healthy volunteers were recruited. By using Logistic regression, paternal age was divided into five categories, and maternal age into four categories. Setting the paternal age of 26-30 years as reference, the OR, P values and 95% CI of the other paternal age categories were analyzed, respectively. The participant's sex, age and parental age at birth were used as covariants for adjusting confounding effects. Results The OR for schizophrenia in offspring whose paternal age at birth of 31-35 years, 36-40 years, and ≥41 years categories were 3.834, 8.805, and 11.619 respectively. The advanced maternal age had no significant effects on the risk for schizophrenia in offspring. Conclusion The advanced paternal age was associated with elevated risk for schizophrenia in offspring among a Han Chinese population. Putative biological mechanisms may include accumulated de novo mutations and alterations in epigenetic regulations with aging in spermatogenesis.%目的 探讨在汉族人群中生父生育年龄与子女罹患精神分裂症风险的相关性.方法 收集351例精神分裂症患者与199名健康志愿者进行病例对照研究.将患者生父母生育年龄分组,以26~30岁组作为参照组,分别对生父母生育年龄的不同组别进行分类变量的Logistic回归分析,并予被试年龄、性别、生母或生父生育年龄等进行校正.结果 校正后,与生育年龄在26~30岁的父亲相比,31~35岁、36~40岁、≥41岁3个年龄组父亲子女罹患精神分裂症的OR值分别为3.834、8.805和11.619(P0.05).生母各生育年龄组P值无统计学意义.结论 生父生育年龄与子女罹患精神分裂症显著相关;生父生育年龄越大,子女罹患精神分裂症的风险越

  8. Mitochondrial DNA Haplogroups and the Risk of Sporadic Parkinson′s Disease in Han Chinese

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    Ya-Fang Chen

    2015-01-01

    Conclusions: Our study indicates that haplogroup B might confer a lower risk for EOPD and people younger than 50 years in Han Chinese, while haplogroup D probably lead a higher risk of PD in people younger than 50 years of age. In brief, particular Asian mtDNA haplogroups likely play a role in the pathogenesis of PD among Han Chinese.

  9. An Unknown Tradition of Han Chinese Conversions to Tibetan Buddhism:Han Chinese Incarnate Lamas and Parishioners of Tibetan Buddhist Monasteries in Amdo

    Institute of Scientific and Technical Information of China (English)

    Gray Tuttle

    2013-01-01

    AbstrActThis article examines Han Chinese who has historically practiced Tibetan Buddhism in the Qinghai-Gansu border region. The main primary sources were published in the 1990s, based on surveys by Chinese social scientists who were sent around in the 1950s to collect data on Tibetan Buddhist institutions as well as additional independent surveys from the 1980s and my own site visits in 2006. On the basis of these sources, I argue that there are at least 100,000 and probably as many as 200,000 Han Chinese on the borders of Qinghai and Gansu (part of the Amdo cultural region for Tibetans) practicing Tibetan Buddhism, following traditions that seem to have been in place for centuries. I also discuss the sixteen historic cases of Han Chinese reincarnate lamas and the over one hundred monasteries in this region affiliated with Han Chinese. Finally, I note the sectarian affiliations (jiaopai: Nyingma, Geluk, etc.) and religious practices of these Chinese communities practicing Tibetan Buddhism.

  10. Incidence of gastroesophageal reflux disease in Uygur and Han Chinese adults in Urumqi

    Institute of Scientific and Technical Information of China (English)

    Chun-Yan Niu; Yong-Li Zhou; Rong Yan; Ni-La Mu; Bao-Hua Gao; Fang-Xiong Wu; Jin-Yan Luo

    2012-01-01

    AIM:To investigate the incidence of gastroesophageal reflux disease (GERD) and its related risk factors in Uygur and Han Chinese adult in Urumqi,China.METHODS:A population-based cross-sectional survey was undertaken in a total of 972 Uygur (684 male and 288 female) aged from 24 to 61 and 1023 Han Chinese (752 male and 271 female) aged from 23 to 63 years.All participants were recruited from the residents who visited hospital for health examination from November 2011 to May 2012.Each participant signed an informed consent and completed a GERD questionnaire (Gerd Q) and a lifestyle-food frequency questionnaire survey.Participants whose Gerd Q score was ≥ 8 and met one of the following requirements would be enrolled into this research:(1) being diagnosed with erosive esophagitis (EE) or Barrett's esophagus (BE) by endoscopy; (2) negative manifestation under endoscopy (non-erosive reflux disease,NERD) with abnormal acid reflux revealed by 24-h esophageal pH monitoring; and (3) suffering from typical heartburn and regurgitation with positive result of proton pump inhibitor test.RESULTS:According to Gerd Q scoring criteria,340 cases of Uygur and 286 cases of Han Chinese were defined as GERD.GERD incidence in Uygur was significantly higher than in Han Chinese (35% vs 28%,x2 =11.09,P < 0.005),Gerd Q score in Uygur was higher than in Han Chinese (7.85 ± 3.1 w 7.15 ± 2.9,P < 0.005),and Gerd Q total score in Uygur male was higher than in female (8.15 ± 2.8 vs 6.85 ± 2.5,P <0.005).According to normalized methods,304 (31%) cases of Uygur were diagnosed with GERD,including 89 cases of EE,185 cases of NERD and 30 cases of BE; 256 (25%) cases of Han Chinese were diagnosed with GERD,including 90 cases of EE,140 cases of NERD and 26 cases of BE.GERD incidence in Uygur was significantly higher than in Han Chinese (31% vs 25%,x2=9.34,P < 0.005) while the incidences were higher in males of both groups than in females (26% vs 5% in Uygur,x2 =35.95,P < 0

  11. Quantitative candidate gene association studies of metabolic traits in Han Chinese type 2 diabetes patients.

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    Wei, F J; Cai, C Y; Yu, P; Lv, J; Ling, C; Shi, W T; Jiao, H X; Chang, B C; Yang, F H; Tian, Y; Li, M S; Wang, Y H; Zou, L; Shi, J M; Chen, L M; Li, W D

    2015-01-01

    Recent genome-wide association studies have identified many loci associated with type 2 diabetes mellitus (T2DM), hyperuricemia, and obesity in various ethnic populations. However, quantitative traits have been less well investigated in Han Chinese T2DM populations. We investigated the association between candidate gene single nucleotide polymorphisms (SNPs) and metabolic syndrome-related quantitative traits in Han Chinese T2DM subjects. Unrelated Han Chinese T2DM patients (1975) were recruited. Eighty-six SNPs were genotyped and tested for association with quantitative traits including lipid profiles, blood pressure, body mass index (BMI), serum uric acid (SUA), glycated hemoglobin (HbA1c), plasma glucose [fasting plasma glucose (FPG)], plasma glucose 120 min post-OGTT (P2PG; OGTT = oral glucose tolerance test), and insulin resistance-related traits. We found that CAMTA1, ABI2, VHL, KAT2B, PKHD1, ESR1, TOX, SLC30A8, SFI1, and MYH9 polymorphisms were associated with HbA1c, FPG, and/or P2PG; GCK, HHEX, TCF7L2, KCNQ1, and TBX5 polymorphisms were associated with insulin resistance-related traits; ABCG2, SLC2A9, and PKHD1 polymorphisms were associated with SUA; CAMTA1, VHL, KAT2B, PON1, NUB1, SLITRK5, SMAD3, FTO, FANCA, and PCSK2 polymorphisms were associated with blood lipid traits; CAMTA1, SPAG16, TOX, KCNQ1, ACACB, and MYH9 polymorphisms were associated with blood pressure; and UBE2E3, SPAG16, SLC2A9, CDKAL1, CDKN2A/B, TCF7L2, SMAD3, and PNPLA3 polymorphisms were associated with BMI (all P values <0.05). Some of the candidate genes were associated with metabolic and anthropometric traits in T2DM in Han Chinese. Although none of these associations reached genome-wide significance (P < 5 x 10(-8)), genes and loci identified in this study are worthy of further replication and investigation. PMID:26634513

  12. Association study of monoamine oxidase A/B genes and schizophrenia in Han Chinese

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    Li Sheng-Bin

    2011-10-01

    Full Text Available Abstract Background Monoamine oxidases (MAOs catalyze the metabolism of dopaminergic neurotransmitters. Polymorphisms of isoforms MAOA and MAOB have been implicated in the etiology of mental disorders such as schizophrenia. Association studies detected these polymorphisms in several populations, however the data have not been conclusive to date. Here, we investigated the association of MAOA and MAOB polymorphisms with schizophrenia in a Han Chinese population. Methods Two functional single nucleotide polymorphisms (SNPs, rs6323 of MAOA and rs1799836 of MAOB, were selected for association analysis in 537 unrelated schizophrenia patients and 536 healthy controls. Single-locus and Haplotype associations were calculated. Results No differences were found in the allelic distribution of rs6323. The G allele of rs1799836 was identified as a risk factor in the development of schizophrenia (P = 0.00001. The risk haplotype rs6323T-rs1799836G was associated with schizophrenia in female patients (P = 0.0002, but the frequency difference was not significant among male groups. Conclusions Our results suggest that MAOB is a susceptibility gene for schizophrenia. In contrast, no significant associations were observed for the MAOA functional polymorphism with schizophrenia in Han Chinese. These data support further investigation of the role of MAO genes in schizophrenia.

  13. DNM2 mutations in Chinese Han patients with centronuclear myopathy.

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    Lin, Pengfei; Liu, Xinhong; Zhao, Dandan; Dai, Tingjun; Wu, Huamin; Gong, Yaoqin; Yan, Chuanzhu

    2016-06-01

    Centronuclear myopathy (CNM) is a congenital myopathy characterized by an abnormally high number of muscle fibers with centrally located nuclei. Autosomal-dominant centronuclear myopathy-1 (CNM1) results from mutations in the dynamin 2 gene (DNM2) and accounts for approximately 50 % of all CNM cases. Up to now, around 35 mutations of DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics and the genotype-phenotype correlation of DNM2 gene mutation with CNM have not yet been defined. Here, we report the clinical characteristics, molecular diagnosis strategy, and DNM2 gene mutations of four Chinese Han patients with CNM. Congenital myopathy-targeted next-generation sequencing (NGS) was applied to sequence the regions of the genome that contain all the coding regions of all known CNM genes and other congenital myopathy genes. We found potential DNM2 mutations in all four of the patients. Further targeted Sanger DNA sequencing of DNM2 found the 1106G>A (p.R369Q) mutation in patients 1 and 2, the c.1393C>T (p.R465W) mutation in patient 3, and the c.1565G>A (p.R522H) mutation in patient 4, all of which were reported previously to be causative mutations of DNM2-related CNM. Our results suggest that the combination of targeted NGS and Sanger sequencing is an effective, rapid, and reliable strategy for the molecular diagnosis of CNM and other genetically heterogeneous disorders. PMID:26908122

  14. Mitochondrial DNA Haplogroups and the Risk of Sporadic Parkinson's Disease in Han Chinese

    Institute of Scientific and Technical Information of China (English)

    Ya-Fang Chen; Wan-Jin Chen; Xiao-Zhen Lin; Qi-Jie Zhang; Jiang-Ping Cai; Chia-Wei Liou; Ning Wang

    2015-01-01

    Background:Mitochondrial dysfunction is linked to the pathogenesis of Parkinson's disease (PD).However,the precise role of mitochondrial DNA (mtDNA) variations is obscure.On the other hand,mtDNA haplogroups have been inconsistently reported to modify the risk of PD among different population.Here,we try to explore the relationship between mtDNA haplogroups and sporadic PD in a Han Chinese population.Methods:Nine single-nucleotide polymorphisms,which define the major Asian mtDNA haplogroups (A,B,C,D,F,G),were detected via polymerase chain reaction-restriction fragment length polymorphism or denaturing polyacrylamide gel electrophoresis in 279 sporadic PD patients and 510 matched controls of Han population.Results:Overall,the distribution ofmtDNA haplogroups did not show any significant differences between patients and controls.However,after stratification by age at onset,the frequency of haplogroup B was significantly lower in patients with early-onset PD (EOPD) compared to the controls (odds ratio [OR] =0.225,95% confidence interval [CI]:0.082-0.619,P =0.004),while other haplogroups did not show significant differences.After stratification by age at examination,among subjects younger than 50 years of age:Haplogroup B also showed a lower frequency in PD cases (OR =0.146,95% CI:0.030-0.715,P =0.018) while haplogroup D presented a higher risk of PD (OR =3.579,95% CI:1.112-11.523,P =0.033),other haplogroups also did not show significant differences in the group.Conclusions:Our study indicates that haplogroup B might confer a lower risk for EOPD and people younger than 50 years in Han Chinese,while haplogroup D probably lead a higher risk of PD in people younger than 50 years of age.In brief,particular Asian mtDNA haplogroups likely play a role in the pathogenesis of PD among Han Chinese.

  15. Association of polymorphisms in the DCDC2 gene with developmental dyslexia in the Han Chinese

    Institute of Scientific and Technical Information of China (English)

    ZUO Peng-xiang; WU Han-rong; LI Zeng-chun; CAO Xu-dong; PANG Li-juan; YANG Lan; LIU Fan; ZHAO Feng

    2012-01-01

    Background Genetic association studies on populations of European origin have identified the DCDC2 gene as a susceptibility locus for developmental dyslexia.Here,we sought to investigate the association of DCDC2 polymorphisms with developmental dyslexia in children of Han Chinese origin.Methods We undertook a case-control genetic association study on 76 dyslexic children and 79 non-dyslexic matched controls.We isolated DNA from oral mucosal cell samples and genotyped two DCDC2 coding-sequence single nucleotide polymorphisms,rs2274305 and rs6456593,in each sample using SNaPshot single nucleotide extension.We compared the allele and genotype frequencies between the groups using the X2 test and analyzed the relationship between dyslexia and the polymorphism at both loci using unconditional logistic regression.We also predicted haplotypes and compared their frequencies between the two groups.Results The differences in the genotype distribution and the allelic genes of the two single nucleotide luci of the DCDC2 gene,rs2274305 and rs6456593,between the two dyslexic and non-dyslexic groups were statistically meaningless (P >0.05).The differences in the haplotype distributions of the DCDC2 gene between the dyslexic and normal group were statistically meaningless (P >0.05).Conclusion The DCDC2 gene may not be a susceptibility factor for developmental dyslexia among the Han Chinese.However,methodological issues may have prevented the detection of oositive associations.

  16. Polymorphism of the catechol-O-methyltransferase gene in Han Chinese patients with psoriasis vulgaris

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    Lin Gao

    2009-01-01

    Full Text Available Psoriasis vulgaris is defined by a series of linked cellular changes in the skin: hyperplasia of epidermal keratinocytes, vascular hyperplasia and ectasia, and infiltration of T lymphocytes, neutrophils and other types of leukocytes in the affected skin. Catechol-O-methyltransferase ( COMT 158 polymorphism can reduce the activity of the COMT enzyme that may trigger defective differentiation of keratinocytes in psoriasis. Immunocytes can degrade and inactivate catecholamines via monamine oxidase (MAO and COMT in the cells. We hypothesized that the COMT-158 G > A polymorphism was associated with the risk of psoriasis vulgaris in Han Chinese people. In a hospital-based case-control study, 524 patients with psoriasis vulgaris and 549 psoriasis-free controls were studied. COMT-158 G > A polymorphism was genotyped using the PCR sequence-specific primer (PCR-SSP technique. We found no statistically significant association between the COMT-158 allele A and the risk of psoriasis vulgaris (p = 0.739 adjusted OR = 1.03; 95% CI = 0.81-1.31. This suggests that the COMT-158 G > A polymorphism may not contribute to the etiology of psoriasis vulgaris in the Han Chinese population.

  17. Profiling plasma peptides for the identification of potential ageing biomarkers in Chinese Han adults.

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    Jiapeng Lu

    Full Text Available Advancing age is associated with cardiovascular disease, diabetes mellitus and cancer, and shows significant inter-individual variability. To identify ageing-related biomarkers we performed a proteomic analysis on 1890 Chinese Han individuals, 1136 males and 754 females, aged 18 to 82 years, using weak cation exchange magnetic bead based MALDI-TOF-MS analysis. The study identified 44 peptides which varied in concentration in different age groups. In particular, apolipoprotein A-I (ApoA1 concentration gradually increased between 18 to 50 years of age, the levels of fibrinogen alpha (FGA decreased over the same age span, while albumin (ALB was significantly degraded in middle-aged individuals. In addition, the plasma peptide profiles of FGA and four other unidentified proteins were found to be gender-dependent. Plasma proteins such as FGA, ALB and ApoA1 are significantly correlated with age in the Chinese Han population and could be employed as indicative ageing-related biomarkers.

  18. Association of the KLF14 rs4731702 SNP and serum lipid levels in the Guangxi Mulao and Han populations.

    Science.gov (United States)

    Huang, Ping; Yin, Rui-Xing; Huang, Ke-Ke; Zeng, Xiao-Na; Guo, Tao; Lin, Quan-Zhen; Wu, Jian; Wu, Dong-Feng; Li, Hui; Pan, Shang-Ling

    2013-01-01

    The objective of the present study was to detect the association of the rs4731702 single nucleotide polymorphism (SNP) and serum lipid levels in the Guangxi Mulao and Han populations. A total of 727 subjects of Mulao and 740 subjects of Han Chinese were included. Serum low-density lipoprotein cholesterol (LDL-C) and apolipoprotein (Apo) B levels were higher in Mulao than in Han (P KLF14 rs4731702 SNP and serum lipid levels between the two ethnic groups might partly result from different gene-environmental interactions. PMID:24195066

  19. Association of the KLF14 rs4731702 SNP and Serum Lipid Levels in the Guangxi Mulao and Han Populations

    OpenAIRE

    Ping Huang; Rui-Xing Yin; Ke-Ke Huang; Xiao-Na Zeng; Tao Guo; Quan-Zhen Lin; Jian Wu; Dong-Feng Wu; Hui Li; Shang-Ling Pan

    2013-01-01

    The objective of the present study was to detect the association of the rs4731702 single nucleotide polymorphism (SNP) and serum lipid levels in the Guangxi Mulao and Han populations. A total of 727 subjects of Mulao and 740 subjects of Han Chinese were included. Serum low-density lipoprotein cholesterol (LDL-C) and apolipoprotein (Apo) B levels were higher in Mulao than in Han (P < 0.05). The T allele carriers had higher serum LDL-C and ApoAI levels in Mulao, whereas they had lower high-dens...

  20. Positive Association Between Type 2 Diabetes Risk Alleles Near CDKAL1 and Reduced Birthweight in Chinese Han Individuals

    OpenAIRE

    Xiao-Fang Sun; Xin-Hua Xiao; Zhen-Xin Zhang; Ying Liu; Tao Xu; Xi-Lin Zhu; Yun Zhang; Xiao-Pan Wu; Wen-Hui Li; Hua-Bing Zhang; Miao Yu

    2015-01-01

    Background: Fetal insulin hypothesis was proposed that the association between low birth weight and type 2 diabetes is principally genetically mediated. The aim of this study was to investigate whether common variants in genes CDKAL1, HHEX, ADCY5, SRR, PTPRD that predisposed to type 2 diabetes were also associated with reduced birthweight in Chinese Han population. Methods: Twelve single nucleotide polymorphisms (rs7756992/rs10946398 in CDKAL1, rs1111875 in HHEX, rs391300 in SRR, rs175844...

  1. Association of rs2072183 SNP and serum lipid levels in the Mulao and Han populations

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    Miao Lin

    2012-05-01

    Full Text Available Abstract Background Niemann-pick C1-like 1 (NPC1L1 is a key protein for intestinal cholesterol transportation. Common single nucleotide polymorphisms (SNPs in the NPC1L1 gene have been associated with cholesterol absorption and serum lipid levels. The present study was undertaken to explore the possible association of NPC1L1 rs2072183 1735 C > G SNP and several environmental factors with serum lipid levels in the Mulao and Han populations. Methods Genotyping of the rs2072183 SNP was performed in 688 subjects of Mulao and 738 participants of Han Chinese. The interactions between NPC1L1 1735 C > G polymorphism and several environmental factors on serum lipid phenotypes were tested using the factorial design covariance analysis after controlling for potential confounders. Results The frequency of G allele was lower in Mulao than in Han (29.72% vs. 37.26%, P P P P P P P P P  Conclusions The present study suggests that the rs2072183 SNP in NPC1L1 gene and its association with serum lipid profiles are different between the Mulao and Han populations. The difference in serum lipid profiles between the two ethnic groups might partly result from different rs2072183 SNP or NPC1L1 gene-environmental interactions.

  2. Association Study of IL-12B Polymorphisms Susceptibility with Ankylosing Spondylitis in Mainland Han Population.

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    Li Zhang

    Full Text Available This study aims to determine whether the genetic polymorphisms of IL-12B gene is a susceptibility factor to Ankylosing spondylitis (AS in mainland Han Chinese population.Eight single-nucleotide polymorphisms (SNPs (rs10045431, rs11167764, rs3212227, rs6556412, rs6556416, rs6871626, rs6887695 and rs7709212 in the IL-12B gene were genotyped by iMLDR Assay technology in 400 patients [96% (384/400 HLA-B27(+] and 395 geographically and ethnically matched healthy controls in mainland Han Chinese population. The correlation between IL-12B genetic polymorphisms and AS activity index (BASDAI, BASFI were tested.The significant difference was found in genotype distribution between AS and healthy controls (χ2 = 6.942, P-value = 0.031 of the SNP rs6871626. Furthermore, significant evidence was also detected under the recessive model for minor allele A. The AA genotype carrier had 1.830 fold risk compared with C allele carrier (with CC and AC genotypes [OR (95% CI = 1.830 (1.131-2.961, P-value = 0.014]. Nevertheless, the difference was no longer significant after Bonferroni correction. Subset analysis on cases with HLA-B27(+ did find the same results. Three genotypic groups (AA, CC and CA in rs6871626 site was highly associated with the BASDAI and BASFI (P-value = 0.012 and P-value = 0.023, respectively, after adjustment for effect of age, sex, and disease duration, the P-value was 0.031 and 0.041, respectively. The AA genotype of rs6871626 was also significantly correlated with an increased BASDAI and BASFI compared to the AC and CC genotypes in AS patients.Our findings suggest that rs6871626 may be associated AS susceptibility and with disease activity (BASDAI, BASFI in mainland Han Chinese population.

  3. [Genetic variability and phylogenetic analysis of 39 short tandem repeat loci in Beijing Han population].

    Science.gov (United States)

    Xiuyan, Ruan; Weini, Wang; Yaran, Yang; Bingbing, Xie; Jing, Chen; Yacheng, Liu; Jiangwei, Yan

    2015-07-01

    In this study, we studied the genetic polymorphisms of short tandem repeat (STR) loci from 13 CODIS and 26 non-CODIS system in Beijing Han population for the first time, and established a database of 39 STR loci whose forensic parameters were further evaluated. Our results demonstrated no significant deviation from the Hardy-Weinberg equilibrium of 39 STR loci and no pairwise linkage disequilibrium between them. The power of discriminations, expected heterozygosity, polymorphic information content, and power of exclusion of 39 STR loci ranged from 0.7740-0.9818, 0.6000-0.9350, 0.5317-0.9047 and 0.2909-0.8673. The cumulated discrimination power and cumulative probability of exclusion were 0.999999999999999999999999999999999999999964971 and 0.999999999973878, respectively. Moreover, the genetic distance was calculated based on allele frequency and phylogenetic tree was built using STR loci data from Beijing Han and other 11 Chinese ethnic groups.This study provides important basic data for Chinese forensic DNA database and population genetics database, and has important significance in carrying out forensic individual identification, paternity testing, and population genetic study. PMID:26351168

  4. Comprehensive cortical thickness and surface area comparison between young Uyghur and Han Chinese cohorts.

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    Lu, Jun; Jiang, Chunhui; Wang, Jian; Jia, Wenxiao

    2016-10-01

    We hypothesized that the brain structural differences as discovered previously between Westerners and East Asians could also be revealed between Han Chinese and Uyghur, which were genetically related ethnic groups with distinct languages. We conducted a brain MRI structural comparison in terms of cortical thickness and surface area between 15 healthy young Uyghurs and 15 age-matched Han Chinese. Widespread regions with significantly greater cortical thickness were found in the Uyghurs, and their distribution showed strong resemblance to previous "Westerners vs. Asians" findings. While surface area analysis displayed less widespread brain differences. Notably, our detected regions with structural differences contained a large part of language-specific or at least closely language-related brain areas, which may partly be attributable to the brain plasticity respectively driven by Uyghur and Mandarin. Our findings will help to better understand the neurobiological basis of interethnic differences along with the language processing mechanisms of Han Chinese and Uyghur. PMID:27067474

  5. Role of IL-17 Variants in Preeclampsia in Chinese Han Women.

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    Haiyan Wang

    Full Text Available Previous studies have suggested an important role for IL-17, mainly secreted by Th17 cells, in the development of systemic inflammation in preeclampsia (PE. This study therefore investigated the association between genetic variants in IL-17A, IL-17F, and IL-17RA and susceptibility to PE in Chinese Han women. We recruited 1,031 PE patients and 1,298 controls of later pregnant women, and used TaqMan allelic discrimination real-time PCR to genotype the polymorphisms of IL17A rs2275913, IL-17F rs763780, and IL-17RA rs4819554. No significant differences in genotypic or allelic frequencies were found at all three polymorphic sites between PE patients and controls (rs2275913: genotype χ2 = 0.218, p = 0.897 and allele χ2 = 0.157, p = 0.692, OR = 1.024, 95%CI 0.911-1.152; rs763780: genotype χ2 = 1.948, p = 0.377 and allele χ2 = 1.242, p = 0.265, OR = 0.897, 95%CI 0.741-1.086; rs4819554: genotype χ2 = 0.633, p = 0.729 and allele χ2 = 0.115, p = 0.735, OR = 1.020, 95%CI 0.908-1.146. There were also no significant differences in genetic distributions between mild/severe PE or early/late-onset PE and control subgroups. Our data indicate that the genetic variants of rs2275913 in IL-17A, rs763780 in IL-17F, and rs4819554 in IL-17RA may not play a role in the pathogenesis of PE in Chinese Han women. However, these findings should be confirmed in other ethnic populations.

  6. The relationship of haplotype in lactotransferrin and its expression levels in Chinese Han ovarian cancer

    Institute of Scientific and Technical Information of China (English)

    Lanqin Cao; Yanhong Zhou; Xin Li; Hong Yi

    2011-01-01

    Chromosomal DNA sequence polymorphisms may contribute to individuality,confer risk for diseases,and most commonly are used as genetic markers in association study.The iron-binding protein lactoferrin inhibits bacterial growth by sequestering essential iron and also exhibits antitumor,anti-inflammatory,and immunoregulatory activities.The gene coding for lactotransferrin (LTF) is polymorphic,with the occurrence of several common alleles in the general population.This genetically determined variation can affect LTF functions.In this study,we determined the distribution of LTF gene polymorphisms (rs1126477,rs1126478,rs2073495,and rs9110) in the Chinese Han population and investigated whether these polymorphisms were associated with increased risk of ovarian carcinoma in the Chinese.It was found that the rs1126477 was correlated significantly with ovarian cancer.The frequency of A allele of rs1126477 was significantly higher in 700 ovarian cancer patients compared with that in the control group of 700 cases (P < 0.01,x2=6.79).The frequency of AA genotype was significantly higher in ovarian cancer patients compared with that in the control group (P < 0.05,x2=6.49).AA genotype is the risk factor of ovarian cancer.The odds ratio (OR) was 2.24 and the 95% confidence interval (CI) was 1.08-4.59,respectively.The ‘A-G-C-C' haplotype constructed with rs1126477,rs1126478,rs2073495,and rs9110 was the risk factor to be ovarian cancer.The expression of LTF gene was lower in individuals with ‘A-G-C-C' haplotype compared with that in individuals without ‘A-G-C-C' haplotype.These findings suggested that rs1126477 could play important roles in ovarian carcinoma physiological processes in the Chinese.

  7. Principal component analysis of gene frequencies of Chinese populations

    Institute of Scientific and Technical Information of China (English)

    肖春杰; L.L.Cavalli-Sforza; E.Minch; 杜若甫

    2000-01-01

    Principal components (PCs) were calculated based on gene frequencies of 130 alleles at 38 loci in Chinese populations, and geographic PC maps were constructed. The first PC map of the Han shows the genetic difference between Southern and Northern Mongoloids, while the second PC indicates the gene flow between Caucasoid and Mongoloids. The first PC map of the Chinese ethnic minorities is similar to that of the second PC map of the Han, while their second PC map is similar to the first PC map of the Han. When calculating PC with the gene frequency data from both the Han and ethnic minorities, the first and second PC maps most resemble those of the ethnic minorities alone. The third and fourth PC maps of Chinese populations may reflect historical events that allowed the expansion of the populations in the highly civilized regions. A clear-cut boundary between Southern and Northern Mongoloids in the synthetic map of the Chinese populations was observed in the zone of the Yangtze River. We suggest that the a

  8. High resolution human leukocyte antigen class I allele frequencies and HIV-1 infection associations in Chinese Han and Uyghur cohorts.

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    Yanhou Liu

    Full Text Available BACKGROUND: Host immunogenetic factors such as HLA class I polymorphism are important to HIV-1 infection risk and AIDS progression. Previous studies using high-resolution HLA class I profile data of Chinese populations appeared insufficient to provide information for HIV-1 vaccine development and clinical trial design. Here we reported HLA class I association with HIV-1 susceptibility in a Chinese Han and a Chinese Uyghur cohort. METHODOLOGY/PRINCIPAL FINDINGS: Our cohort included 327 Han and 161 Uyghur ethnic individuals. Each cohort included HIV-1 seropositive and HIV-1 seronegative subjects. Four-digit HLA class I typing was performed by sequencing-based typing and high-resolution PCR-sequence specific primer. We compared the HLA class I allele and inferred haplotype frequencies between HIV-1 seropositive and seronegative groups. A neighbor-joining tree between our cohorts and other populations was constructed based on allele frequencies of HLA-A and HLA-B loci. We identified 58 HLA-A, 75 HLA-B, and 32 HLA-Cw distinct alleles from our cohort and no novel alleles. The frequency of HLA-B*5201 and A*0301 was significantly higher in the Han HIV-1 negative group. The frequency of HLA-B*5101 was significantly higher in the Uyghur HIV-1 negative group. We observed statistically significant increases in expectation-maximization (EM algorithm predicted haplotype frequencies of HLA-A*0201-B*5101 in the Uyghur HIV-1 negative group, and of Cw*0304-B*4001 in the Han HIV-1 negative group. The B62s supertype frequency was found to be significantly higher in the Han HIV-1 negative group than in the Han HIV-1 positive group. CONCLUSIONS: At the four-digit level, several HLA class I alleles and haplotypes were associated with lower HIV-1 susceptibility. Homogeneity of HLA class I and Bw4/Bw6 heterozygosity were not associated with HIV-1 susceptibility in our cohort. These observations contribute to the Chinese HLA database and could prove useful in the

  9. Was acupuncture developed by Han Dynasty Chinese anatomists?

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    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 tian (heavenly/superior), xia (below/inferior), liao (bone-hole), fei (flying), wei (bend), and 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. Anat Rec, 299:643-659, 2016. © 2016 Wiley Periodicals, Inc. PMID:26861920

  10. Polymorphism of Resistin Gene SNP-420C/G and Risks to Type 2 Diabetes among the Chinese Han Population: A Meta-analysis%中国人Resistin基因SNP-420C/G多态性与2型糖尿病发病风险关系的Meta分析

    Institute of Scientific and Technical Information of China (English)

    张四青; 郭经琴; 钟树妹

    2011-01-01

    目的 利用Meta分析的方法,综合评价Resistin基因SNP-420C/G位点多态与中国汉族人2型糖尿病发病的相关性.方法 计算机检索2001年1月~2010年7月CNIG、万方、VIP、中国生物医学服务系统(SinoMed)和PubMed数据库,并手工检索相关杂志,收集有关中国汉族人群Resistin基因-420C/G位点多态的基因型频率和/或等位基因频率的独立病例对照研究.在评价纳入研究质量,提取有效数据后,采用RevMan 4.2软件进行Meta分析.结果 共纳入5个病例对照研究,包括2型糖尿病组709例,对照组572例.Meta分析结果显示:以cc基因型为暴露因素,具有CC基因型的人群2型糖尿病发病风险无明显增高[OR=1.02,95%CI (0.81,1.29)];以GG基因型为暴露因素,具有GG基因型的人群2型糖尿病发病风险无明显增高[OR=1.34,95%CI (0.95,1.90)].结论 本Meta分析结果提示,中国汉族人群Resistin基因SNP-420C/G位点多态可能与2型糖尿病的发病不相关.%Objective To investigate the association of the polymorphism of resistin gene SNP-420C/G and type 2 diabetes (T2DM) among the Chinese Hah population. Methods Such databases as CNKI, WanFang database, VIP,SinoMed, and PubMed were electronically searched from January 2001 to July 2010 to collect case-control studies on polymorphism of resistin gene SNP-420C/G and T2DM among the Chinese Hah population. The quality of the included studies was evaluated and the data was extracted. RevMan 4.2 software was used for meta-analyses. Results A total of five case-control studies were identified, involving 709 cases in the T2DM group and 572 cases in the control group. The results of meta-analysis showed that the Chinese Han population with CC genotypes of SNP-420 had no higher risks to T2DM (OR=l.02, 95%CI 0.81 to 1.29), and the Chinese Han population with GG genotypes of SNP-420 still had no higher risks to T2DM (OR=1.34, 95%CI 0.95 to 1.90). Conclusion Current evidence suggests that there is no

  11. Association of Gghrelin Polymorphisms with Metabolic Syndrome in Han Nationality Chinese

    Institute of Scientific and Technical Information of China (English)

    LING-LING XU; HONG-DING XIANG; CHANG-CHUN QIU; QUN XU

    2008-01-01

    Objective To investigate the association of ghrelin gene polymorphisms with metabolic syndrome in Han Nationality Chinese. Methods A total of 240 patients with metabolic syndrome annd 427 adults aged above forty years were recruited. Genotypes were determined by polymerase chain reaction and restriction fragment lengthpolymorphism analysis.Results The allelic frequency of the Leu72Met polymorphismwas 17.3% in the patient group and 11.9% in the control group(x2=7.36, P=0.007). Metabolic syndrome was more prevalent among carriers of the Met72 variant (43.8 vs 33.1%, age- and sex-adjusted odds ratio=1.57, P=0.01). No Arg51Gln variants were found in our study subjects. Conclusion Rather than being associated with its individual components, Leu72Met polymorphism is associated with metabolic syndrome in the Han Nationality Chinese. Arg51Gln polymorphism is rare in the Hart Nationality Chinese.

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

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    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. PMID:9426813

  13. Replication of Han Chinese GWAS loci for schizophrenia via meta-analysis of four independent samples.

    Science.gov (United States)

    Xiao, Xiao; Li, Ming

    2016-04-01

    Schizophrenia is a highly heritable psychiatric disorder with unclear aetiology. Recent genome-wide association studies (GWAS) in European populations have reported numerous susceptibility variants, while GWAS in East Asians also identified several risk loci but with fewer independent replications. Here we focus on nine single nucleotide polymorphisms (SNPs) which have shown genome-wide significant associations with schizophrenia in previous Han Chinese GWAS, and we tend to replicate the associations in four independent samples of East Asian origin including a total of 3977 cases and 5589 controls. The results showed that rs10489202 in MPC2 (BRP44) is significantly associated with schizophrenia in these East Asian replication samples (one-tailed P=5.75×10(-3), OR=1.12), and further meta-analysis after including previous GWAS data yielded a genome-wide significant association (two-tailed P=1.11×10(-10), OR=1.19), adding further support for the involvement of this locus in the genetic risk of schizophrenia, and future studies regarding the underlying molecular mechanisms of the risk association are necessary. PMID:26899211

  14. Association analysis of monoamine oxidase A gene and bipolar affective disorder in Han Chinese

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    Lai Te-Jen

    2008-05-01

    Full Text Available Abstract Background Monoamine oxidase A (MAOA is a mitochondrial enzyme involved in degrading several different biological amines, including serotonin. Although several pieces of evidence suggested that MAOA is important in the etiology of bipolar affective disorder (BPD, associations for markers of the MAOA gene with BPD were not conclusive and the association has not been investigated in Taiwanese population. This study was designed to illustrate the role of MAOA in the etiology of BPD in Han Chinese. Methods Two markers, a dinucleotide polymorphism in exon 2 and a functional uVNTR on the promoter of the MAOA gene, were used to study the genetic association in 108 unrelated patients with BPD and 103 healthy controls. Allelic distributions of two polymorphisms were analyzed and, caused the MAOA located at X chromosome, haplotype association was performed using haplotype unambiguously assigned in male participants. Results While no difference in allelic distributions of two MAOA polymorphisms was found, the risk haplotype 114S was associated with BPD in male patients (P = 0.03. The significance, however, was not found in female patients with 114S haplotype. Conclusion Results from this study suggest that MAOA may have a gender-specific and small effect on the etiology of BPD in Taiwan. Due to the limited sample size, results from this study need to be confirmed in replicates.

  15. Association of the KLF14 rs4731702 SNP and Serum Lipid Levels in the Guangxi Mulao and Han Populations

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    Ping Huang

    2013-01-01

    Full Text Available The objective of the present study was to detect the association of the rs4731702 single nucleotide polymorphism (SNP and serum lipid levels in the Guangxi Mulao and Han populations. A total of 727 subjects of Mulao and 740 subjects of Han Chinese were included. Serum low-density lipoprotein cholesterol (LDL-C and apolipoprotein (Apo B levels were higher in Mulao than in Han (P<0.05. The T allele carriers had higher serum LDL-C and ApoAI levels in Mulao, whereas they had lower high-density lipoprotein cholesterol (HDL-C levels and ratio of ApoAI to ApoB in Han (P<0.05 than the T allele noncarriers. Subgroup analyses showed that the T allele carriers had higher HDL-C, LDL-C, and ApoAI levels in Mulao males and lower ApoAI levels and ratio of ApoAI to ApoB in Han males than the T allele noncarriers. The subjects with TT genotype in Han females also had higher total cholesterol, LDL-C, ApoAI, and ApoB levels than the subjects with CT or CC genotype. Serum lipid parameters were also correlated with several environmental factors in both ethnic groups. The differences in the association of KLF14 rs4731702 SNP and serum lipid levels between the two ethnic groups might partly result from different gene-environmental interactions.

  16. Review - Critical Han Studies

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    Zhiguo Ye

    2013-12-01

    Full Text Available Review of: Thomas Mullaney, James Leibold, Stéphane Gros, and Eric Armand Vanden Bussche (eds. 2012. Critical Han Studies: The History, Representation, and Identity of China's Majority. Berkeley, Calif: University of California Press. This path-breaking volume is an academic collaboration that emerged out of the "Critical Han Studies Conference and Workshop" at Stanford University in April 2008. Eleven scholars contributed to the question of what it means to be 'Han' in China, both historically and at present. Constituting over ninety percent of China's population, the Han are not only the largest ethnic group in China, but are also one of the largest categories of collective identity in the world. Despite this, the dominant Han group has so far eluded careful scholarly scrutiny, with the Han often referred to as an unmarked majority category in contemporary China. This volume challenges such conventional views by conceptualizing new interdisciplinary approaches to the question of Hanness. The eleven essays of the volume are divided into three themes: 'Han and China', 'The Problem of Han Origins', and 'The Problem of Han Formations'. The first theme, comprised of four essays, analyzes the ties that bind the category of Han to those of Chinese ethnicity, race, and polity. Kevin Carrico in "Recentering China: The Cantonese in and Beyond the Han" questions a single, unitary Hanness that he believes conceals "countless other perceived and imagined lines of differentiation" (25. The study examines how multiple identities...

  17. Association of Lumican Gene with Susceptibility to Pathological Myopia in the Northern Han Ethnic Chinese

    OpenAIRE

    Yang Li; Yudong Wu; Zhongjun Zhou; Tingzhun Zhu; Fengju Zhang

    2009-01-01

    Pathological myopia is a severe hereditary ocular disease leading to blindness. It is urgent and very important to find the pathogenesis and therapy for this disease. The purpose of the study is to analyze sequences of lumican and decorin genes with pathological myopia(PM) and control subjects to verify the relationship between lumican, decorin genes and PM in Northern Han Chinese. We collected and analyzed the blood samples of 94 adults (including 12 pedigree cases and 82 sporadic cases) wit...

  18. Association of HLA-B27 and ERAP1 with ankylosing spondylitis susceptibility in Beijing Han Chinese.

    Science.gov (United States)

    Zhang, Z; Dai, D; Yu, K; Yuan, F; Jin, J; Ding, L; Hao, Y; Liang, F; Liu, N; Zhao, X; Long, J; Xi, Y; Sun, Y-Y

    2014-05-01

    This study investigated the genetic polymorphisms of HLA-B27, together with polymorphisms on endoplasmic reticulum aminopeptidase 1 (ERAP1), and susceptibility for ankylosing spondylitis (AS) in the Beijing Han population. A case-control study was carried out for 602 AS patient samples and 619 matched controls of Han Chinese. HLA-B27 genotyping was performed by polymerase chain reaction-sequence specific primers (PCR-SSP), and four ERAP1 SNPs (rs27037, rs27980, rs27582, and rs27434) were selected and genotyped on the Sequenom iPlex platform (Sequenom, San Diego, CA). Association analysis was performed using the likelihood ratio χ(2) test. This study identified four HLA-B27 alleles in Beijing Han AS patients, B*27:02, B*27:04, B*27:05, and B*27:07, of which B*27:05 was the most significant geographical different subtype among AS patients in Chinese. Our results confirmed that HLA-B27 was strongly associated with AS (P=1.9 × 10(-150) ), and the most strongly associated alleles were B*27:04, B*27:05, and B*27:02. Our study also confirmed a weak association between ERAP1 (rs27434) and AS. We also observed that for HLA-B*27:02 and HLA-B*27:04 positive AS patients, rs27434 and rs27582 were associated with AS. In contrast, for HLA-B27-negative and HLA-B*27:05-positive AS patients, this association was not observed. This is the first study to show that both B27 and ERAP1 are AS genetic susceptibility genes in Beijing Han. Interactions between ERAP1 and HLA-B*27:02 and B*27:04 may play an important role in the AS pathogenesis. PMID:24666027

  19. Investigation of associations between ten polymorphisms and the risk of coronary artery disease in Southern Han Chinese.

    Science.gov (United States)

    Huang, Er-Wen; Peng, Long-Yun; Zheng, Jin-Xiang; Wang, Dan; Tan, Xiao-Hong; Yang, Zhong-Yi; Li, Xue-Mei; Wu, Qiu-Ping; Tang, Shuang-Bo; Luo, Bin; Quan, Li; Liu, Shui-Ping; Liu, Xiao-Shan; Li, Zhao-Hui; Shi, He; Lv, Guo-Li; Zhao, Jian; Liu, Chao; Cheng, Jian-Ding

    2016-05-01

    A large-scale meta-analysis of 14 genome-wide association studies has identified and replicated a series of susceptibility polymorphisms for coronary artery disease (CAD) in European ancestry populations, but evidences for the associations of these loci with CAD in other ethnicities remain lacking. Herein we investigated the associations between ten (rs579459, rs12413409, rs964184, rs4773144, rs2895811, rs3825807, rs216172, rs12936587, rs46522 and rs3798220) of these loci and CAD in Southern Han Chinese (CHS). Genotyping was performed in 1716 CAD patients and 1572 controls using mass spectrography. Both allelic and genotypic associations of rs964184, rs2895811 and rs3798220 with CAD were significant, regardless of adjustment for covariates of gender, age, hypertension, type 2 diabetes, blood lipid profiles and smoking. Significant association of rs12413409 was initially not observed, but after the adjustment for the covariates, both allelic and genotypic associations were identified as significant. Neither allelic nor genotypic association of the other six polymorphisms with CAD was significant regardless of the adjustment. Our results indicated that four loci of the total 10 were associated with CAD in CHS. Therefore, some of the CAD-related loci in European ancestry populations are indeed susceptibility loci for the risk of CAD in Han Chinese. PMID:26740236

  20. A rare coding variant in TREM2 increases risk for Alzheimer's disease in Han Chinese.

    Science.gov (United States)

    Jiang, Teng; Tan, Lan; Chen, Qi; Tan, Meng-Shan; Zhou, Jun-Shan; Zhu, Xi-Chen; Lu, Huan; Wang, Hui-Fu; Zhang, Ying-Dong; Yu, Jin-Tai

    2016-06-01

    Two recent studies have identified that a rare coding variant (p.R47H) in exon 2 of triggering receptor expressed on myeloid cells 2 (TREM2) gene is associated with Alzheimer's disease (AD) susceptibility in Caucasians. This association was not successfully replicated in Han Chinese, where this variant was rare or even absent. Previously, we resequenced TREM2 exon 2 to investigate whether additional rare variants conferred risk to AD in our cohort. Although several new variants had been identified, none of them was significantly associated with disease susceptibility. Here, to test whether TREM2 is truly a susceptibility gene of AD in Han Chinese, we extend our previous study by sequencing the other four exons of TREM2 in 988 AD patients and 1,354 healthy controls. We provided the first evidence that a rare coding variant (p.H157Y) in TREM2 exon 3 conferred a considerable risk of AD in our cohort (Pcorrected = 0.02, odds ratio = 11.01, 95% confidence interval: 1.38-88.05). This finding indicates that rare coding variants of TREM2 may play an important role in AD in Han Chinese. PMID:27067662

  1. Genetic Polymorphisms of SNP Loci in the 5' and 3' Region of TPH2 Gene in Northern Chinese Han Population%中国北方汉族群体TPH2基因5'和3'端SNP位点遗传多态性

    Institute of Scientific and Technical Information of China (English)

    徐晓明; 丁梅; 庞灏; 邢佳鑫; 宣金锋; 王保捷

    2013-01-01

    Objective To investigate the genetic polymorphism in the 5' and 3' region of TPH2 gene of Northern Chinese Han population and to explore its application value in forensic medicine. Methods The sequence variants and the genetic polymorphisms of 6 SNP loci (rs4570625,rsl 1178997,rsl 1178998,rs41317118,rsl7110747 and rs41317114) within a 905 bp 5' flanking region and a 1 104 bp 3' flanking region of TPH2 gene were analyzed by DNA sequencing in a total of 244 unrelated healthy individuals in Northern Chinese Han population. The statistical analysis was carried out by Haploview v4.2 software. Results The genotypic distributions of the 6 SNP loci in the TPH2 gene were in accordance with Hardy-Weinberg equilibrium. One C/T variant in 92922 site was found. There was a high linkage disequilibrium among the 3 SNP loci (rs4570625,rsl 1178997 and rsl 1178998) in the 5' region and the 3 SNP loci (rs41317118,rsl7110747 and rs41317114) in the 3' region of TPH2 gene,respectively. The parameters of population genetics of 6 SNP loci were obtained. Conclusion There are great polymorphisms in the 5' and 3' region of TPH2 gene in Northern Chinese Han population,which could be used as genetic indexes for association analysis of the related diseases,as well as for forensic individual identification and paternity testing.%目的 调查中国北方汉族群体TPH2基因5’和3’端SNP位点遗传多态性并探讨其法医学应用价值.方法 测序分析244例中国北方健康无关个体TPH2基因5’端905 bp和3’端1104bp两个靶片段的序列特征和6个SNP位点(rs4570625、rs11178997、rs11178998、rs41317118、rs17110747和rs41317114)的遗传多态性,应用Haploview v4.2软件进行统计分析. 结果 244例中国北方汉族个体6个SNP位点基因型分布均符合Hardy-Weinberg平衡定律,在92922位点检测到1例C/T变异,TPH2基因5’端3个SNP位点(rs4570625、rs11178997和rs11178998)和3’端3个SNP位点(rs41317118、rs17110747和rs41317114)分别显示

  2. Polymorphisms of renin-angiotensin-aldosterone system gene in chinese han patients with nonfamilial atrial fibrillation.

    Directory of Open Access Journals (Sweden)

    Li-Qun Zhao

    Full Text Available Atrial fibrillation(AF is the most common arrhythmia in the adult population. The activated renin-angiotensin-aldosterone system (RAS has been reported to play an important role in the pathogenesis of atrial fibrillation. The aim of this study was to investigate the association between nonfamilial AF and polymorphisms in RAS gene.A total of 931 patients with nonfamilial AF, 663 non-AF heart disease patients and 727 healthy subjects were selected. 10 tagSNPs (tSNPs (ACE gene rs8066114, AGT gene rs7539020, rs3789678, rs2478544, rs11568023, rs2478523, rs4762, rs699 and CYP11B2 rs3802230, rs3097 were chosen and genotyped in our study. Single-locus analysis and haplotype analysis were used in this study.In single-locus analysis, we found rs11568023 and rs3789678 in AGT gene were associated with nonfamilial AF in Chinese Han population. AF risk was associated with rs3789678 between the AF group and control groups. Under dominant model, the significant AF risk was observed in rs3789678 between the AF group and non AF heart control group; And the protective effect was found in rs11568023, compared with the non-AF heart disease control group. In multilocus haplotype analysis, the association between frequencies of the haplotypes and AF risk was showed in AGT gene (rs7539020-rs3789678, compared 'TT' haplotype with the common 'TC' haplotype, adjusted for age, gender, LVEF, LVEDD, LAD and frequency of hypertension and diabetes. The diplotype with 'TC', carrying rs3789678-C-allele, was associated with reduced risk of AF between the AF group and the healthy control group. The diplotype with 'TT' haplotype in the same block, carrying rs3789678-T-allele, was associated with increased risk of AF.Via a large-scale case-control study, we found that rs3789678 site was potential susceptible locus of AF whereas rs11568023 was protective factor.

  3. Genetic Variants of VEGF (rs201963 and rs3025039) and KDR (rs7667298, rs2305948, and rs1870377) Are Associated with Glioma Risk in a Han Chinese Population: a Case-Control Study.

    Science.gov (United States)

    Zhang, Jiannan; Yang, Jian; Chen, Yuqing; Mao, Qin; Li, Shanquan; Xiong, Wenhao; Lin, Yingying; Chen, Jie; Ge, Jianwei

    2016-05-01

     % CI 1.16-1.98, P = 0.002), OR = 1.41 (95 % CI 1.05-1.87, P = 0.020), and OR = 1.48 (95 % CI 1.13-1.93, P = 0.004), respectively], and allele models [OR = 1.39 (95 % CI 1.15-1.67, P = 0.001), OR = 1.47 (95 % CI 1.14-1.89, P = 0.002), and OR = 1.27 (95 % CI 1.05-1.52, P = 0.013), respectively]. The genetic polymorphisms of VEGF [rs3025039 (C>T), rs2010963 (G>C)] and KDR [rs7667298 (A>G), rs2305948 (C>T), rs1870377 (T>A)] increased glioma susceptibility in a Chinese population, suggesting the possibility of VEGF and KDR as genetic markers for glioma. Additional functional and association studies with different ethnic groups included are needed to further confirm our results. PMID:26093379

  4. Haplotyping of GH1 Gene Proximal to Promoter Region and the Association with Adult Height in Chinese Han Population%中国汉族人群GH1基因启动子区单体型及与身高的关系

    Institute of Scientific and Technical Information of China (English)

    葛芸英; 陈松; 张广峰

    2016-01-01

    目的:研究中国汉族人群GH1基因启动子区域的单核苷酸多态性及其在中国汉族人群中的分布规律,建立其单体型分析方法并探索与成年人身高间的关系,为今后个体身高特征推测研究奠定基础。方法采用直接测序法进行SNP检测,获得其分型数据;采用等位位点特异性PCR方法和基于人群的单体型推断方法分别进行单体型分析,并采用Haplo.stats软件构建单体型与身高的广义线性模型。结果GH1基因启动子区域含有多个SNP位点,在前人研究的基础上发现了−261、−250、+20三个新SNP位点;找到−278、−57、−6三个标签SNP位点,以最常见的单体型GTA为参照,TTA、GGG、TTG携带者的身高更矮(P<0.05),差异具有统计学意义。结论基于人群的单体型推断方法是一种比较准确可行的方法,可以在后续的研究中单独使用,不需要再进行复杂费时的等位位点特异性PCR操作;GH1基因启动子区域在中国汉族人群中表现出高度多态性,并存在一定的人种差异;GH1基因启动子区域的序列及单体型与身高存在一定的关系。%ABATRACT:ObjectiveThe aim of this study is to investigate the single nucleotide polymorphisms (SNPs) located at the GH1 gene proximal to promoter region in Chinese Han population, and to explore its haplotype association with adult height.MethodsSNP typing was performed by direct DNA sequencing in a control Chinese population of 109 unrelated male adults. By using both allele-speciifc PCR and the Haploview software, the haplotypes on the basis of the SNPs were obtained. Haplo.stats software was employed to analyze the association between haplotype and adult height.Results69 samples were successfully genotyped with 34 samples bearing at least two polymorphic sites. 13 SNPs were found in the GH1 gene proximal to promoter region in Chinese Han population, and three of them located at sites of −261,

  5. Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han.

    Science.gov (United States)

    Dong, H R; Li, H S; Wang, S C; Balin, Q M; Chang, P Y

    2015-01-01

    Systemic lupus erythematosus (SLE) is an autoimmune disease that results in chronic inflammation of different organ systems. Several susceptibility loci for SLE have been suggested in different populations, but the nature of the susceptibility genes has yet to be determined. The programmed cell death 1 gene (PDCD1), the cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, and the methyl-CpG-binding protein 2 gene (MECP2) are considered to be the candidate genes associated with SLE. We analyzed the role of PDCD1, CTLA4, and MECP2 gene polymorphisms in Han patients suffering from SLE. Using a case-control study, 263 SLE patients and 263 healthy controls were collected from Chinese Northern Han people. Genomic DNA was prepared from peripheral blood leukocytes and the genotyping was performed using a polymerase chain reaction/ligase detection reaction assay. A statistically significant difference was observed in the rs2239464 and rs2075596 polymorphisms of MECP2 between SLE subjects and controls. The GG genotype in rs2239464 and the GG genotype in rs2075596 might protect against SLE. In contrast, no such association was found in the CTLA4 or PDCD1 polymorphisms. The rs2239464 and rs2075596 polymorphisms of MECP2 might play a significant role in the development of SLE in the Northern Han of China. PMID:26782401

  6. Association of Canonical Wnt/β-Catenin Pathway and Type 2 Diabetes: Genetic Epidemiological Study in Han Chinese

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    Jinjin Wang

    2015-06-01

    Full Text Available We aimed to investigate the associations of polymorphisms in Canonical Wnt/β-catenin pathway (WNT signaling genes (including low-density lipoprotein-related protein 5 [LRP5] and transcription factor 7-like 2 [TCF7L2] gene and the downstream gene glucagon (GCG and risk of type 2 diabetes mellitus (T2DM in a Han Chinese population. We genotyped the single nucleotide polymorphisms (SNPs for LRP5, TCF7L2 and GCG gene were genotyped in 1842 patients with T2DM and 7777 normal glucose-tolerant healthy subjects. We used multifactor dimensionality reduction (MDR and multiplicative logistic regression adjusting for sex, age, anthropometric measurements and lipid levels to investigate the gene-gene interactions for the risk of T2DM. Among the five SNPs in LRP5, the recessive model of rs7102273 and the haplotype GCTCC were associated with T2DM risk; the haplotype GCTTC was associated with decreased risk. For TCF7L2, the rs11196218 genotype GA and the haplotype CCG, TTG, TTA were associated with T2DM risk; whereas, the haplotype CTG and TCG were associated with decreased risk. Both MDR and multiplicative logistic regression revealed potential gene–gene interactions among LRP5, TCF7L2, and GCG associated with T2DM. The WNT signaling pathway may play a significant role in risk of T2DM in Han Chinese people.

  7. Association of Canonical Wnt/β-Catenin Pathway and Type 2 Diabetes: Genetic Epidemiological Study in Han Chinese.

    Science.gov (United States)

    Wang, Jinjin; Zhao, Jingzhi; Zhang, Jianfeng; Luo, Xinping; Gao, Kaiping; Zhang, Ming; Li, Linlin; Wang, Chongjian; Hu, Dongsheng

    2015-06-01

    We aimed to investigate the associations of polymorphisms in Canonical Wnt/β-catenin pathway (WNT) signaling genes (including low-density lipoprotein-related protein 5 [LRP5] and transcription factor 7-like 2 [TCF7L2] gene) and the downstream gene glucagon (GCG) and risk of type 2 diabetes mellitus (T2DM) in a Han Chinese population. We genotyped the single nucleotide polymorphisms (SNPs) for LRP5, TCF7L2 and GCG gene were genotyped in 1842 patients with T2DM and 7777 normal glucose-tolerant healthy subjects. We used multifactor dimensionality reduction (MDR) and multiplicative logistic regression adjusting for sex, age, anthropometric measurements and lipid levels to investigate the gene-gene interactions for the risk of T2DM. Among the five SNPs in LRP5, the recessive model of rs7102273 and the haplotype GCTCC were associated with T2DM risk; the haplotype GCTTC was associated with decreased risk. For TCF7L2, the rs11196218 genotype GA and the haplotype CCG, TTG, TTA were associated with T2DM risk; whereas, the haplotype CTG and TCG were associated with decreased risk. Both MDR and multiplicative logistic regression revealed potential gene-gene interactions among LRP5, TCF7L2, and GCG associated with T2DM. The WNT signaling pathway may play a significant role in risk of T2DM in Han Chinese people. PMID:26083111

  8. Population Exposure to Depleted Uranium in the Han Pijesak Region

    OpenAIRE

    Zora S. Žunić; Rodoljub Simović; Zoran Ćurguz; Olivera Čuknić; Jerzy Mietelski; Predrag Ujić; Igor Čeliković; Predrag Kolarž; Branko Predojević

    2011-01-01

    In September 1995 the Han Pijesak area of Republic of Srpska was heavily attacked by Depleted Uranium (DU) ammunition. In this area, from 2003 to 2004, during one year, the components of natural ionizing radiation sources like radon, thoron, and gamma radiation were measured. In addition, during the same period, the samples of soil, moss, and lichen were collected in order to identify the content of technologically enhanced natural radionuclides in them and particularly their isotopic ratios,...

  9. Prevalence of Diabetes and Associated Factors in the Uyghur and Han Population in Xinjiang, China

    OpenAIRE

    Haiying Gong; Lize Pa; Ke Wang; Hebuli Mu; Fen Dong; Shengjiang Ya; Guodong Xu; Ning Tao; Li Pan; Bin Wang(Department of Physics and Astronomy, Shanghai Jiao Tong University, Shanghai 200240, China); Guangliang Shan

    2015-01-01

    Objective: To estimate the prevalence of diabetes and identify risk factors in the Uyghur and Han population in Xinjiang, China. Methods: A cross-sectional study in urban and rural areas in Xinjiang, including 2863 members of the Uyghur population and 3060 of the Han population aged 20 to 80 years, was conducted from June 2013 to August 2013. Data on fasting plasma glucose (FPG) and personal history of diabetes were used to estimate the prevalence of diabetes. Data on demographic characterist...

  10. Analysis of the private, collective, and relational self-cognitions among Han and Tibetan Chinese.

    Science.gov (United States)

    Huang, Wei; Mamat, Marhaba; Shang, Rui; Zhang, Tianyang; Li, Hao; Wang, Yao; Luo, Wei; Wu, Yanhong

    2014-08-01

    Differences in the concepts of private, collective, and relational selves between two Chinese ethnic groups, the Han and Tibetan-adhering to the philosophies of Confucianism and Tibetan Buddhism, respectively-were examined. 128 students (54 men, 74 women; M age = 20.9 yr., SD = 2.2) completed the revised Twenty Statements Test and self-reference paradigm. Study 1 found that for Han participants relational and private selves were ranked similarly and as more important than the collective self. Studies 2 and 3 found that adjective words describing private and relational selves were recalled in greater proportions than words describing the collective self. Tibetan participants showed no significant differences between the three self-cognitions. The findings correspond to differences in self-identity among these two subcultures. PMID:25153957

  11. Prevalence of Diabetes and Associated Factors in the Uyghur and Han Population in Xinjiang, China

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    Haiying Gong

    2015-10-01

    Full Text Available Objective: To estimate the prevalence of diabetes and identify risk factors in the Uyghur and Han population in Xinjiang, China. Methods: A cross-sectional study in urban and rural areas in Xinjiang, including 2863 members of the Uyghur population and 3060 of the Han population aged 20 to 80 years, was conducted from June 2013 to August 2013. Data on fasting plasma glucose (FPG and personal history of diabetes were used to estimate the prevalence of diabetes. Data on demographic characteristics, lifestyle risk factors, and lipid profiles were collected to identify risks factors using the multivariate logistic regression model. Results: In urban areas, the age- and gender-standardized prevalence of diabetes was 8.21%, and the age- and gender-standardized prevalence of diabetes was higher in the Uyghur population (10.47% than in the Han population (7.36%. In rural areas, the age- and gender-standardized prevalence of diabetes was 6.08%, and it did not differ significantly between the Uyghur population (5.71% and the Han population (6.59%. The results of the multivariate logistic regression analysis showed that older age, obesity, high triglycerides (TG, and hypertension were all associated with an increased risk of diabetes in the Uyghur and Han population. Urban residence and low high-density lipoprotein cholesterol (HDL-C were associated with an increased risk of diabetes in the Uyghur population. Being an ex-drinker was associated with an increased risk of diabetes and heavy physical activity was associated with a decreased risk of diabetes in the Han population. Conclusions: Our study indicates that diabetes is more prevalent in the Uyghur population compared with the Han population in urban areas. Strategies aimed at the prevention of diabetes require ethnic targeting.

  12. Prevalence of Diabetes and Associated Factors in the Uyghur and Han Population in Xinjiang, China

    Science.gov (United States)

    Gong, Haiying; Pa, Lize; Wang, Ke; Mu, Hebuli; Dong, Fen; Ya, Shengjiang; Xu, Guodong; Tao, Ning; Pan, Li; Wang, Bin; Shan, Guangliang

    2015-01-01

    Objective: To estimate the prevalence of diabetes and identify risk factors in the Uyghur and Han population in Xinjiang, China. Methods: A cross-sectional study in urban and rural areas in Xinjiang, including 2863 members of the Uyghur population and 3060 of the Han population aged 20 to 80 years, was conducted from June 2013 to August 2013. Data on fasting plasma glucose (FPG) and personal history of diabetes were used to estimate the prevalence of diabetes. Data on demographic characteristics, lifestyle risk factors, and lipid profiles were collected to identify risks factors using the multivariate logistic regression model. Results: In urban areas, the age- and gender-standardized prevalence of diabetes was 8.21%, and the age- and gender-standardized prevalence of diabetes was higher in the Uyghur population (10.47%) than in the Han population (7.36%). In rural areas, the age- and gender-standardized prevalence of diabetes was 6.08%, and it did not differ significantly between the Uyghur population (5.71%) and the Han population (6.59%). The results of the multivariate logistic regression analysis showed that older age, obesity, high triglycerides (TG), and hypertension were all associated with an increased risk of diabetes in the Uyghur and Han population. Urban residence and low high-density lipoprotein cholesterol (HDL-C) were associated with an increased risk of diabetes in the Uyghur population. Being an ex-drinker was associated with an increased risk of diabetes and heavy physical activity was associated with a decreased risk of diabetes in the Han population. Conclusions: Our study indicates that diabetes is more prevalent in the Uyghur population compared with the Han population in urban areas. Strategies aimed at the prevention of diabetes require ethnic targeting. PMID:26473908

  13. Volume measurement of thalami in normal Chinese Han nationality adults by the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To measure the volume of thalamus in 1000 healthy Chinese Han nationality adults, and to analyze the relationship between thalamic volume and age, sex, weight and cerebral volume, to provide reliable data for the construction of database of Chinese adults' digital standard brain. Methods: Totally 1000 healthy Chinese adults of Han nationality aged from 18 to 80 years were recruited.They were divided into 5 groups by age: 18-30, 31-40, 41-50, 51-60 and 61-80 years. Each group included 100 males and 100 females. Brain images were obtained on a 1.5 T MR, and the outline of thalami was drawn with Aquariusws software. Then the thalamic volume was calculated automatically. The volumes of left and right thalamus were compared by paired sample t-test. Thalamic volumes of the same side were compared between males and females by independent sample t-test. And thalamic volumes of different age groups were compared by one-way ANOVA. The relationships between thalamic volume and age, sex, weight and cerebral volume were analyzed respectively. Results: The males' standardized volumes of left and right thalamus of healthy Chinese Han nationality adults were (5776 ± 780), (5655 ± 759) mm3, and they were (5464 ±573), (5360 ± 542) mm3 for female. The males' thalamic volume was more than the females' on the same side (t=2.245, 2.200, P<0.01). The left thalamic volumes of various age groups were (6180 ± 534), (6047 ± 562), (5426 ± 471), (5552 ± 526), (4866 ± 552) mm3, respectively, while the right thalamic volumes of the 5 groups were (6069 ± 532), (5895 ± 539), (5357 ± 480), (5396 ± 445),(4791 ± 558)mm3, respectively. There were statistically significant difference among the 5 groups (F=165.686, 165.235, P<0.01). The left and right thalamic volume were all negatively correlated with age (r=-0.633, -0.645, P<0.05). Conclusions: With high resolution 1.5 T MR scanner,grey matter and white matter can be depicted clearly and the outline of

  14. Variants in GLIS3 and CRY2 are associated with type 2 diabetes and impaired fasting glucose in Chinese Hans.

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    Chen Liu

    Full Text Available BACKGROUND: Recent genome-wide association studies have identified a number of common variants associated with fasting glucose homeostasis and type 2 diabetes in populations of European origin. This is a replication study to examine whether such associations are also observed in Chinese Hans. METHODS: We genotyped nine variants in or near MADD, ADRA2A, CRY2, GLIS3, PROX1, FADS1, C2CD4B, IGF1 and IRS1 in a population-based cohort including 3,210 unrelated Chinese Hans from Beijing and Shanghai. RESULTS: We confirmed the associations of GLIS3-rs7034200 with fasting glucose (beta = 0.07 mmol/l, P = 0.03, beta cell function (HOMA-B (beta = -3.03%, P = 0.009, and type 2 diabetes (OR [95%CI]  = 1.27 [1.09-1.49], P = 0.003 after adjustment for age, sex, region and BMI. The association for type 2 diabetes remained significant after adjusting for other diabetes related risk factors including family history of diabetes, lipid profile, medication information, hypertension and life style factors, while further adjustment for HOMA-B abolished the association. The A-allele of CRY2-rs11605924 was moderately associated with increased risk of combined IFG/type 2 diabetes (OR [95%CI]  = 1.15[1.01-1.30], P = 0.04. SNPs in or near MADD, ADRA2A, PROX1, FADS1, C2CD4B, IGF1, and IRS1 did not exhibit significant associations with type 2 diabetes or related glycemic traits (P≥0.10. CONCLUSIONS: In conclusion, our results indicate the associations of GLIS3 locus with type 2 diabetes and impaired fasting glucose in Chinese Hans, partially mediated through impaired beta-cell function. In addition, we also found modest evidence for the association of CRY2-rs11605924 with combined IFG/type 2 diabetes.

  15. Analysis of PPARGC1B, RUNX3 and TBKBP1 polymorphisms in Chinese Han patients with ankylosing spondylitis: a case-control study.

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    Zijian Lian

    Full Text Available BACKGROUND: Susceptibility to and severity of ankylosing spondylitis (AS are largely genetically determined. PPARGC1B, RUNX3 and TBKBP1 have recently been found to be associated with AS in patients of western European descent. Our purpose is to examine the influence of PPARGC1B, RUNX3 and TBKBP1 polymorphisms on the susceptibility to and the severity of ankylosing spondylitis in Chinese ethnic majority Han population. METHODS: Blood samples are drawn from 396 AS patients and 404 unrelated healthy controls. All the patients and the controls are Han Chinese and the patients are HLA-B27 positive. The AS patients are classified based on the severity of the disease. Twelve tag single nucleotide polymorphisms (tagSNPs in PPARGC1B, RUNX3 and TBKBP1 are selected and genotyped. Frequencies of different genotypes and alleles are analyzed among the different severity AS patients and the controls. RESULTS: After Bonferroni correction, the rs7379457 SNP in PPARGC1B shows significant difference when comparing all AS patients to controls (p = 0.005. This SNP also shows significant difference when comparing normal AS patients to controls (p = 0.002. The rs1395621 SNP in RUNX3 shows significant difference when comparing severe AS patients to controls (p = 0.007. The rs9438876 SNP in RUNX3 shows significant difference when comparing normal AS patients to controls (p = 0.007. The rs8070463 SNP in TBKBP1 shows significant difference in genotype distribution when comparing severe AS patients to controls (p = 0.003. CONCLUSIONS: The rs7379457 SNP in PPARGC1B is related to susceptibility to AS in Chinese Han population. The rs7379457 SNP in PPARGC1B, the rs1395621 and rs9438876 SNPs in RUNX3, and the rs8070463 SNP in TBKBP1 are related to the severity of AS in Chinese Han population.

  16. Ethnic disparities in the clustering of risk factors for cardiovascular disease among the Kazakh, Uygur, Mongolian and Han populations of Xinjiang: a cross-sectional study

    OpenAIRE

    Li Nanfang; Wang Hongmei; Yan Zhitao; Yao Xiaoguang; Hong Jing; Zhou Ling

    2012-01-01

    Abstract Background Chinese Uygur, Kazakh, Mongolian and Han populations represent >90% of the total population of Xinjiang Uygur Autonomous Region, and their genetic backgrounds, customs, culture, and food consumption are different. The effect of ethnic differences on cardiovascular disease risk factors (CRFs; hypertension, obesity, diabetes, dyslipidemia, smoking) can be striking but is rarely studied. We report here the findings of the relationship among these ethnic groups and their CRFs ...

  17. Establishment of the Method of Immunohistochemistry Assay for the Detection of Scrapie in Chinese Short-Tailed Han Sheep by Monoclonal Antibody

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    The method of immunohistochemistry assay for the detection of scrapie in Chinese Short-tailed Han sheep was established using monoclonal antibody. Genomic DNA was isolated from Chinese Short-tailed Han sheep blood. Using the polymerase chain reaction technique, PrP27-30 gene sequence was amplified from Chinese Short-tailed Han sheep genomic DNA. By recombinant DNA technology, the recombinant protein of Chinese Short-tailed Han sheep PrP27-30 was obtained. Then, using standard methodology of myeloma cell fusion, a panel of monoclonal antibodies was generated. With mAbs, scrapie in Chinese Short-tailed Han sheep was detected by immunohistochemistry assay. The recombinant protein of Chinese Short-tailed Han sheep PrP27-30 was obtained and a panel of six hybridoma cell lines secreting specific antibodies to Chinese Short-tailed Han sheep PrP27-30 related to scrapie was obtained with one fusion between myeloma Sp2/0 and spleen cells from mice immunized with the purified recombinant protein. Four hybridoma cell lines can be used in immunohistochemistry assay for the detection of scrapie in Chinese Short-tailed Han sheep. So that the special monoclonal antibody developed in author's institute can be used to detect PrPsc of scrapie in Chinese Short-tailed Han sheep by immunohistochemistry in China.

  18. 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.

    Science.gov (United States)

    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 t1/2 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. PMID:26730802

  19. HLA-A Gene Polymorphism Defined by High-Resolution Sequence Based Typing in 161 Northern Chinese Han People

    Institute of Scientific and Technical Information of China (English)

    Chunxia Yan; Haiyan Sun; Xiuqing Zhang; Jian Wang; Huanming Yang; Shengbin Li; Ruilin Wang; Jingxiang Li; Yajun Deng; Dongying Wu; Hongbo Zhang; Hongxing Zhang; Lidong Wang; Chunrong Zhang

    2003-01-01

    Human leukocyte antigen (HLA) system is the most polymorphic region known in the human genome. In the present study, we analyzed for the first time the HLA-A gene polymorphisms defined by the high-resolution typing methods--sequence-based typing (SBT) in 161 Northern Chinese Han people. A total of 74 different HLA-A gene types and 36 alleles were detected. The most frequent alleles were A*110101 (GF=0.2360), A*24020101 (GF=0.1646), and A*020101 (GF=0.1553); followed by A*3303 (GF=0.1180), A*3001 (GF=0.0590),and A*310102 (GF=0.0404). The frequencies of following alleles, A*0203, A*0205,A*0206, A*0207, A*030101, A*2423, A*2601, A*3201, and A*3301, are all higher than 0.0093. The homozygous alleles include A*020101, A*110101, A*24020101 and A*310102. Heterozygosity (H), polymorphism information content (PIC), discrimination power (DP) and probability of paternity exclusion (PPE) of HLA-A in the samples were calculated and their values were 0.8705, 0.8491, 0.6014, and 0.9475, respectively. These results by SBT analysis of HLA-A polymorphism in Northern Chinese Han population, especially the allele subtypes character, will be of great interest for clinical transplantation, disease-associated study and forensic identification. Implementation of high-resolution typing methods allows a significantly wider spectrum of HLA variation including rare alleles. This spectrum will further be extensively utilized in many fields.

  20. Association study of the endothelial nitric oxide synthase gene polymorphisms with essential hypertension in northern Han Chinese

    Institute of Scientific and Technical Information of China (English)

    ZHAO Qi; SU Shao-yong; CHEN Shu-feng; LI Biao; GU Dong-feng

    2006-01-01

    Background Nitric oxide (NO) synthesized by endothelial nitric oxide synthase (eNOS) plays an important role in both the regulation of endothelial function and the control of blood pressure. Up to now, there has been conflicting data regarding the association between three clinically relevant polymorphisms (T-786C, intron4b/a and G894T) of the eNOS gene and essential hypertension.Methods To examine the contribution of the three eNOS gene polymorphisms to the development of hypertension in the northern Han Chinese, a case-control study including 503 hypertensive cases and 490 age-,gender-, and area-matched controls recruited from the International Collaborative Study of Cardiovascular Disease in Asia (InterASIA) was conducted. Genotyping was performed by polymerase chain reaction (PCR) or PCR-restriction fragment length polymorphism (RFLP).Results The T-786C and intron4b/a polymorphisms were observed in significant linkage disequilibrium (D'=0.87, P<0.001). The minor allele frequencies of these three polymorphisms in healthy controls were much lower than those of Caucasians (9.3% vs 39.6%-42.0%, 8.9% vs 15.0%- 16.0% and 10.9% vs 34.5%-34.9%for -786C, intron4a and 894T, respectively). Genotype distributions and allele frequencies of the three polymorphisms did not differ between cases and controls (all P > 0.05). In addition, none of the eight estimated haplotypes significantly increased or decreased the risk of hypertension before or after adjustment for several known risk factors.Conclusion The study results suggest that the three eNOS gene polymorphisms are unlikely to be major genetic susceptibility factors for essential hypertension in the northern Han Chinese population.

  1. Polymorphism analysis of PARK2 gene mutations in Han Chinese patients with early-onset Parkinson's disease

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    Yuancheng Bao; Ting Guan; Yuanxun Yu; Huaizhou Jiang; Changshui Fang; Lijuan Chen

    2010-01-01

    The PARK2 gene is a common disease gene in Han Chinese patients with Parkinson's disease.The detection of mutations in the PARK2 gene remains low.To investigate the role PARK2 gene mutations play in the pathogenesis of Parkinson's disease,30 Han Chinese patients with early-onset Parkinson's disease and 38 normal controls were studied to determine the sequence changes of 1,4,6 and 7 exon sections.In the 30 patients with Parkinson's disease,a heterozygous intron mutation(nt 119,G→G/A)in exon 1 was detected in one case;a homozygous intron mutation(nt 526500,T→C)between intron 3 and exon 4 in fourteen cases was found;a heterozygous intron mutation(nt 526607,G→G/A)between intron 3 and exon 4 was observed in eight cases;an exon 6missense mutation(nt 754317,C→C/T;codon 193,CGG→CGG/TGG;aa 193,Arg→Arg/Trp)in three cases was seen;and an exon 7 missense mutation(nt 941943,C→A/C;codon 272,CTC→CTC/ATC;aa 272,Leu→Leu/lle)was found in one case.These changes were not found in the normal population.The results indicated that the PARK2 exons 6 and 7 mutations are possibly pathogenic mutations,along with the intron 3-exert 4 and exon 1 mutations.PARK2 gene mutations are possible factors leading to the onset of Parkinson's disease.

  2. Toll-like receptor 2 -196 to -174 del polymorphism influences the susceptibility of Han Chinese people to Alzheimer's disease

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    Mao Cai-Xia

    2011-10-01

    Full Text Available Abstract Background Toll-like receptor 2 (TLR2 represents a reasonable functional and positional candidate gene for Alzheimer's disease (AD as it is located under the linkage region of AD on chromosome 4q, and functionally is involved in the microglia-mediated inflammatory response and amyloid-β clearance. The -196 to -174 del polymorphism affects the TLR2 gene and alters its promoter activity. Methods We recruited 800 unrelated Northern Han Chinese individuals comprising 400 late-onset AD (LOAD patients and 400 healthy controls matched for gender and age. The -196 to -174 del polymorphism in the TLR2 gene was genotyped using the polymerase chain reaction (PCR method. Results There were significant differences in genotype (P = 0.026 and allele (P = 0.009 frequencies of the -196 to -174 del polymorphism between LOAD patients and controls. The del allele was associated with an increased risk of LOAD (OR = 1.31, 95% CI = 1.07-1.60, Power = 84.9%. When these data were stratified by apolipoprotein E (ApoE ε4 status, the observed association was confined to ApoE ε4 non-carriers. Logistic regression analysis suggested an association of LOAD with the polymorphism in a recessive model (OR = 1.64, 95% CI = 1.13-2.39, Bonferroni corrected P = 0.03. Conclusions Our data suggest that the -196 to -174 del/del genotype of TLR2 may increase risk of LOAD in a Northern Han Chinese population.

  3. TNFR 2 M196R Polymorphism and Acne Vulgaris in Han Chinese:A Case-control Study

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    田黎明; 谢红付; 杨婷; 胡耀华; 李吉; 王玮蓁

    2010-01-01

    In this case-control study,the relationship between M196R(676 T→G) variant in exon 6 of tumor necrosis factor receptor type 2(TNFR2) gene and genetic susceptibility of acne vulgaris in Han Chinese was investigated.A total of 93 acne vulgaris patients and 90 healthy subjects from Han Chinese ethnic group were enrolled in this study.Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) technique was adopted to analyze the single nucleotide polymorphisms(SNPs) of TNFR2 M196R gene,and to ...

  4. T细胞受体α链稳定区基因-575A/G与原发抗中性粒细胞抗体相关性小血管炎的关联分析%Relationship of TCRCα-575A/G polymorphism with anti-neutrophil antibody associated vasculitis in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    薛超; 张益民; 廖蕴华; 杨桢华; 黄莉; 许佳; 项新

    2009-01-01

    Objective To investigate the relationship of TCRCα-575A/G polymorphism with anti-neutrophil antibody(ANCA) associated vasculitis in Chinese Han population. Methods 86 cases of ANCA associated vasculi-tis in Chinese Han population and 196 healthy subjects were enrolled. TCRCα-575A/G was genotyped by PCR-re-striction fragment length polymorphism (PCR-RFLP) assay. Case-control study was performed. Results No signifi-cant difference was found in either genotype distribution(AA,AG,GG) or allele frequencies between 86 patients and healthy subjects(P>0.05);But significant differences between AA group, AG group, and GG group in systolic pres-sure[(127.47±24.18)、(124.11±25.21)、(148.92±19.23) mm Hg],diastolic pressure [(75.35±14.12)、 (74.50±13.01)、(85.46±9.40) mm Hg],red blood cell count[(3.41±1.01)×109/L、(3.46±1.04)× 109/L、(2.68±0.67)×109/L] and hemoglobin [(90.45±20.69)、(100.66±29.80)、(77.61±15.81) g/L (P0.05 ). Conclusions In Chi-nese Han population,TCRCα-575A/G polymorphism might not be related to genetic susceptibility and chronic renal failure of ANCA associated vaseulitis;but G allele might be associated with more serious anaemia and hypertension.%目的 探讨T细胞受体α链稳定区(TCRCα)基因-575 A/G多态性与汉族人群原发抗中性粒细胞抗体(ANCA)相关性小血管炎的关联关系.方法 86例原发ANCA相关性小血管炎汉族患者与196例汉族健康人作对照,PCR-RFLP鉴定其TCRCα-575A/G基因型,进行病例-对照研究与临床分析.结果 86例患者中,TCRCα基因-575 A/G存在从、AG、GG 3种基因型和A、G 2种等位基因,与正常对照组相比,分布频率差异均无统计学意义(P均>0.05);TCRCα基因-575A/G基因型不同的患者组(AA组、AG组、GG组)相比,在收缩压[(127.47±24.18)、(124.11±25.21)、(148.92±19.23)mm Hg]、舒张压[(75.35±14.12)、(74.50±13.01)、(85.46±9.40)mm Hg]、红细胞数[(3.41±1.01)×109/L、(3.46±1.04)×109/L、(2.68±0.67)×109/L

  5. Analysis on association between anti-gliadin IgA and anti-gliadin IgG antibodies and schizophrenia in Chinese Han population%人血浆抗谷胶蛋白 IgA和IgG 抗体与精神分裂症发病及临床表型的关联性分析

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    王嘉欣; 武宁; 杜伟利; 赵鑫丽; 赵晓霞; 惠李; 王珍琦; 张萱

    2014-01-01

    目的:检测中国北方汉族人群精神分裂症患者血浆中抗谷胶蛋白 IgA(anti-gliadin IgA)和抗谷胶蛋白IgG(anti-gliadin IgG)抗体水平,探讨人血浆抗谷胶蛋白 IgA和 IgG 抗体水平与中国北方汉族人群精神分裂症发病及临床表型的关系,阐明谷胶蛋白在精神分裂症发病中的作用。方法:收集428例中国北方汉族人群精神分裂症患者与555例健康对照者全血样品,分离血浆,采用 ELISA法检测血浆中抗谷胶蛋白 IgA和抗谷胶蛋白IgG 抗体水平。应用χ2检验比较精神分裂症组和健康对照组受试者血浆抗谷胶蛋白 IgA和 IgG 抗体阳性率,采用 Mann-Whitney U检验比较精神分裂症组和健康对照组受试者血浆抗谷胶蛋白 IgA和抗谷胶蛋白 IgG 抗体水平。结果:与健康对照组比较,精神分裂症组患者血浆抗谷胶蛋白 IgA 阳性率及 IgA 水平均明显升高(P<0.01),抗谷胶蛋白 IgG 阳性率及 IgG 水平差异无统计学意义(P>0.05)。携带关系妄想、读心症、被迫害妄想、嫉妒妄想、夸大妄想、思维连贯性障碍、思维逻辑性障碍、古怪行为、攻击性行为、幻觉-妄想综合征、思维贫乏、情感迟钝/淡漠和意志缺乏等临床表型的精神分裂症患者血浆中抗谷胶蛋白 IgA水平均显著高于健康对照者(P<0.05);携带读心症和夸大妄想等临床表型的精神分裂症患者血浆抗谷胶蛋白 IgG水平显著高于健康对照者(P<0.05)。结论:谷胶蛋白与中国北方汉族人群精神分裂症发病密切相关,血浆中的谷胶蛋白自身抗体在精神分裂症发病中可能发挥重要作用。%Objective To detect the levels of anti-gliadin IgA and anti-gliadin IgG antibodies in the plasma of the patients with schizophrenia, and to investigate the association between schizophrenia and anti-gliadin IgA, IgG bodies in a Chinese Han population, and to clarify the effect of

  6. Genetic polymorphism of 11 Y-chromosomal STR loci in Yunnan Han Chinese.

    Science.gov (United States)

    Yanmei, Yang; Tao, Gu; Yubao, Zeng; Chunjie, Xiao; Bifeng, Chen; Shi, Luo; Bingying, Xu; Qiang, Jing; Qinyong, Zhuang; Wen, Zhang; Shengjun, Luo; Shengjie, Nie

    2010-02-01

    Allele frequencies and haplotypes of 11 Y-chromosome STR loci, DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385 ab, DYS438, DYS439 and DYS437 were determined in 320 unrelated Yunnan Han Chinese males. A total of 293 haplotypes were identified, of which 268 were unique, 23 were shared in two individuals, and 2 were shared in three individuals. The allele diversity values for each locus ranged from 0.4087 (DYS438) to 0.9701 (DYS385). The allele observed haplotypes diversity value was 0.9994. The combined Y-chromosome STR polymorphisms provide a powerful discrimination tool for routine forensic applications. PMID:20129460

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

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    Yuzhang Zhu

    Full Text Available 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.

  8. 中国汉族人群中BRCA1和BRCA2基因突变携带者患乳腺癌风险的研究%Breast cancer risk in BRCA1 and BRCA2 mutation carriers in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    杨晓晨; 胡震; 吴炅; 柳光宇; 沈镇宙; 邵志敏

    2015-01-01

    背景与目的:BRCA1和BRCA2基因突变携带者终生患乳腺癌和卵巢癌的风险显著增高。通过遗传咨询,突变携带者可采取适当的措施来降低相应肿瘤的发生风险。目前,相关的报道几乎均为白种人,尚缺乏中国人群的资料。该研究旨在探索中国汉族人群中BRCA1和BRCA2基因突变携带者患乳腺癌的风险。方法:回顾20个经基因检测证实携带BRCA1或BRCA2致病性基因突变的汉族乳腺癌高风险家系。利用Kaplan-Meier生存分析法对女性BRCA1/2基因突变携带者单侧乳腺癌及对侧乳腺癌的累积发病风险进行估算。结果:BRCA1和BRCA2基因突变携带者70岁时单侧乳腺癌的累积发病风险(外显率)分别为67.2%(sx 0.100)和76.8%(sx 0.079)。与BRCA1不同的是,BRCA2基因突变携带者70岁后乳腺癌累积发病率继续增加,到80岁时达93.1%。BRCA1/2基因突变携带者对侧乳腺癌10年和20年的累积发病率分别为19.4%(sx 0.089)和50.3%(sx 0.155)。结论:中国汉族人群中BRCA1和BRCA2基因突变携带者具有很高的乳腺癌发病风险。因而对中国高风险人群进行BRCA1/2基因突变检测具有重要临床意义。%Background and purpose: BRCA1 and BRCA2 mutation carriers have a high lifetime risk of developing breast and ovarian cancer. Through genetic counseling, mutation carriers can take the appropriate measures to reduce such cancer risk. At present, almost all related studies were conducted in Caucasian, while, the studies in Chinese population were rare. This study aimed to investigate the risk of breast cancer in BRCA1 and BRCA2 mutation carriers in Chinese Han population. Methods:Twenty unrelated families with BRCA1 or BRCA2 mutations were re-viewed. Kaplan-Meier analyses were used to estimate the cumulative risks of unilateral breast cancer and contralateral breast cancer for female BRCA1 and BRCA2 mutation carriers. Results:Breast cancer risk to 70 years (penetrance) was 67

  9. Ethnic disparities in the clustering of risk factors for cardiovascular disease among the Kazakh, Uygur, Mongolian and Han populations of Xinjiang: a cross-sectional study

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    Li Nanfang

    2012-07-01

    Full Text Available Abstract Background Chinese Uygur, Kazakh, Mongolian and Han populations represent >90% of the total population of Xinjiang Uygur Autonomous Region, and their genetic backgrounds, customs, culture, and food consumption are different. The effect of ethnic differences on cardiovascular disease risk factors (CRFs; hypertension, obesity, diabetes, dyslipidemia, smoking can be striking but is rarely studied. We report here the findings of the relationship among these ethnic groups and their CRFs across the four largest ethnic groups of Xinjiang. Methods A cross-sectional survey of representative samples was conducted 2002–2008 in Chinese Uygur, Kazakh, Mongolian and Han populations (age >30 years; 4,421 Kazakh, 3884 Han, 3,218 Uygur, and 892 Mongolian individuals in Xinjiang. Results A total of 90.4% of Kazakh, 91.9% of Uygur, 90.4% of Mongolian, 85.1% of Han individuals had at least one CRF. Clustering of ≥2 or ≥3 of these risk factors was noted in 65.2% or 32.1% of Kazakh, 64.8% or 33.0% of Uygur, 66.9% or 36.5% of Mongolian as well as 62.0% or 28.3% of Han subjects, respectively. Compared with the Han population, the adjusted odds ratios of ≥1, ≥2, and ≥3 CRFs for Kazakh, Uygur and Mongolian populations were higher (all P Conclusions Ethnic groups living in Xinjiang had striking differences in CRFs. Ethnic-specific strategies should be developed to prevent cardiovascular disease in different ethnic groups.

  10. 中国汉族人群冠心病候选基因变异及其临床关联的地域特征%Geographical characteristics of single nucleotide polymorphism of candidate genes associated with coronary artery disease in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    王胜煌; 白锋; Muhlestein JB; 崔翰斌; 王东琦; 陈晓敏; 张宏考; 崔长琮; 陈新义; 刘新宏; 张征

    2008-01-01

    -C及(或)TG的影响不尽一致.4个SNP对三个地区汉族人群冠心病发病的影响均无统计学意义.结论 不同地域中国汉族人群冠心病危险因素(环境因素和遗传因素)存在一定异质性;候选基因SNP可预测冠心病中间表型,但对临床表型缺乏显著影响,此联系独立于地域因素.%Objective To investigate the geographical characteristics of single nucleotide polymorphism(SNP) of candidate genes associated with coronary artery disease in Chinese Han population.Methods Study population were Chinese Han nationality recruited from Xi'an,Shiyan and Ningbo districts.Patients with coronary artery disease were defined by coronary angiography with stenosis ≥ 50% and control subjects with stenosis <10%,respectively.The DNA was extracted from peripheral white blood cell by approach comprised proteinase K digestion,phenol and chloroform extraction as well as isopropanol precipitation.The SNP of ATP-binding cassette transporter(ABCA1)-G596A,cholesteryl ester transfer protein(CETP)-Taq1B,Lipoprotein lipase(LPL)-Hind Ⅲ and LPL-Pvu Ⅱ were genotyped by PCR-RFLPs,and verified by gene sequencing.Results A Total of 615 patients undertaken coronary angiography were recruited from cardiac center in Xi'an(220),Ningbo(209)and Shiyan district(186),China (mean age 60±10 years,75.9% males).Diabetes melitus was more prevalent in Xi'an Cohort population than Shiyan and Ningbo cohort(P<0.01).Plasma total cholesterol,LDL cholestcol and trigtyceride levels in Xi'an Cohort population were significantly higher,and HDL-C siginificantly lower than in Shiyan and Ningbo cohort population [HDL-C:(1.17±0.48)mmol/L vs.(1.25±0.33)mmol/L and (1.29±0.44)mmol/L,P<0.05].Distribution differences for ABCA1-G596A and CETP-Taq1B genotypes were found in Xi'an Cohort population compared to Ningbo and Shiyan cohorts(for ABCA1,Xi'an:0.24,0.53,0.23 and Shiyan:0.17,0.62,0.21 and Ningbo:0.34,0.37,0.29,for GG,AG,AA,respectively,P<0.01;and for CETP,Xi'an:0.29,0.54,0.17 and Shiyan:0

  11. Common variant rs7579169 is associated with preeclampsia in Han Chinese women.

    Science.gov (United States)

    Guo, L F; Wang, Z H; Wang, Y F

    2016-01-01

    As a heterogeneous group of disorders in pregnancy, many genetic factors are involved in the development of preeclampsia. The single nucleotide polymorphism (SNP) rs7579169, located on chromosome 2q14.2, has been shown to be associated with pregnancy-induced hypertension in Europeans. In this study, we examined whether the SNP rs7579169 is associated with the susceptibility to preeclampsia through a case-control research model in Han Chinese women. Genotypes of 145 patients with preeclampsia and 150 healthy pregnant subjects were identified by direct sequencing. The correlation between the rs7579169 genotype and the susceptibility to preeclampsia was evaluated using an unconditional logistic regression model. Although there were no differences of having the rs7579169 SNP between early onset and late onset preeclampsia, patients carrying the CT or TT genotype were more likely to develop preeclampsia than those carrying the CC genotype (CT vs CC: OR = 1.76, 95%CI = 1.07-2.87, P Chinese women. PMID:27173354

  12. A sex-specific association of common variants of neuroligin genes (NLGN3 and NLGN4X with autism spectrum disorders in a Chinese Han cohort

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    Li Hui

    2011-05-01

    Full Text Available Abstract Background Synaptic genes, NLGN3 and NLGN4X, two homologous members of the neuroligin family, have been supposed as predisposition loci for autism spectrum disorders (ASDs, and defects of these two genes have been identified in a small fraction of individuals with ASDs. But no such rare variant in these two genes has as yet been adequately replicated in Chinese population and no common variant has been further investigated to be associated with ASDs. Methods 7 known ASDs-related rare variants in NLGN3 and NLGN4X genes were screened for replication of the initial findings and 12 intronic tagging single nucleotide polymorphisms (SNPs were genotyped for case-control association analysis in a total of 229 ASDs cases and 184 control individuals in a Chinese Han cohort, using matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF mass spectrometry. Results We found that a common intronic variant, SNP rs4844285 in NLGN3 gene, and a specific 3-marker haplotype XA-XG-XT (rs11795613-rs4844285-rs4844286 containing this individual SNP were associated with ASDs and showed a male bias, even after correction for multiple testing (SNP allele: P = 0.048, haplotype:P = 0.032. Simultaneously, none of these 7 known rare mutation of NLGN3 and NLGN4X genes was identified, neither in our patients with ASDs nor controls, giving further evidence that these known rare variants might be not enriched in Chinese Han cohort. Conclusion The present study provides initial evidence that a common variant in NLGN3 gene may play a role in the etiology of ASDs among affected males in Chinese Han population, and further supports the hypothesis that defect of synapse might involvement in the pathophysiology of ASDs.

  13. [Correlation between the genetic polymorphisms of apolipoprotein M with the susceptibility to rheumatic diseases of Chinese Han populastion in Lanzhou].

    Science.gov (United States)

    Li, Meiyong; Guo, Xinling; Li, Qiannan; You, Chongge

    2016-08-01

    Objective To investigate the relationship between the genetic polymorphisms of apolipoprotein M (ApoM) and the susceptibility to rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and ankylosing spondylitis (AS) among Chinese Han population in Lanzhou. Methods Primers for the two single nucleotide polymorphism (SNP) sites (rs805296 and rs805297) in ApoM gene were designed and their genotyping methods of polymerase chain reaction-high resolution melting (PCR-HRM) assay were established. Case-control studies were performed among the 599 cases of RA, 194 cases of SLE, 179 cases of AS and 273 matched healthy controls to analyze the correlations between the two SNPs and the susceptibility to rheumatic diseases. Results The genotype frequencies of rs805296 were AA 87.0%, AG 12.7%, GG 0.3% in RA cases, AA 84.5%, AG 15.0%, GG 0.5% in SLE cases, AA 91.6%, AG 7.3%, GG 1.1% in AS cases, AA 85.0%, AG 15.0%, GG 0% in healthy controls. The ones of rs805297 were GG 38.2%, GT 51.8%, TT 10.0% in RA cases, GG 44.3%, GT 45.4%, TT 10.3% in SLE cases, GG 37.4%, GT 47.5%, TT 15.1% in AS cases, GG 40.7%, GT 46.1%, TT 13.2% in healthy controls. Statistical analyses showed that only the genotype distribution of rs805296 was significantly different between the AS cases and the healthy controls. Under the dominant model, the G allele carriers of rs805296 (AG heterozygote and GG homozygote) were found to significantly decrease the risk for AS development. Conclusion The established PCR-HRM genotyping assays in the present study can successfully achieve the molecular diagnosis of the two SNPs sites (rs805296 and rs805297) from clinical samples, and the study found a significant association between the SNP of rs805296 and the susceptibility to AS among Chinese Han population in Lanzhou. PMID:27412944

  14. Association between HLA-A,HLA-B,HLA-DRB1 polymorphisms and chronic kidney disease in Han Chi-nese population from northwestern plateau%西北高原汉族人群人类白细胞抗原-A、B、DRB1基因多态性与慢性肾衰竭相关性分析

    Institute of Scientific and Technical Information of China (English)

    欧剑锋; 任晖; 张茜; 王存邦; 白海

    2014-01-01

    目的:研究西北高原汉族人群人类白细胞抗原(human leukocyte antigen,HLA)-A、B、DRB1基因多态性与慢性肾脏疾病(chronic kidney disease,CKD)的相关性。方法选择410例等待肾移植的CKD患者和403例健康个体作为研究对象,且所有研究对象均来自中国西北高原地区并在当地生活多年。采用序列特异引物聚合酶链式反应技术对研究对象进行基因分型,比较两个群体HLA-A、HLA-B和 HLA-DRB1基因频率的差异,并采用相对风险系数评价 HLA与CKD的相关性。结果与健康对照组比较,CKD 组 HLA-A∗32(2.43%比0.37%,P=0.001;odds ratio [OR]=6.692,confidence interval [CI]:1.981~22.608)、HLA-A∗68(2.07%比0.37%,P=0.002;OR=5.667,CI:1.654~19.412)和HLA-DRB1∗16(3.41%比0.87%,P=0.001;OR=4.035;CI:1.753~9.292)具有高频率,而HLA-B∗14(0.36%比1.48%,P=0.02;OR=0.243;CI:0.068~0.864)却频率较低。结论西北汉族人群中,HLA-A∗32、HLA-A∗68和 HLA-DRB1∗16可能是 CKD 的易感基因,而HLA-B∗14则可能是保护性基因。%Objective To investigate the association between chronic kidney disease (CKD)and the polymorphism of human leukocyte antigen (HLA)-A,B,DRB1 and to find susceptible genes and protective genes in Han Chinese population from northwestern plateau.Methods 410 patients with CKD who underwent HLA typing for future kidney transplantation and 403 healthy individuals were enrolled in this study.All participants were northwestern Han Chinese who have been living in high al-titude for several decades.HLA genes were detected by a polymerase chain reaction (PCR)method,u-sing DNA sequence-specific primers (SSP).Then the frequencies of HLA genotypes were statistically analyzed and relative risks (RR)for the disease were calculated between CKD patients and healthy in-dividuals.Results Our results showed that the gene frequencies of HLA-A∗32 (2.43% vs.0.37%, P=0.001,odds ratio [OR]=6.692,confidence interval [CI]:1.981-22.608),HLA

  15. The relation of SNPs at THADA locus with type 2 diabetes in northern Chinese Han population%我国北方汉族人群甲状腺腺瘤相关基因单核苷酸多态性与2型糖尿病的关联研究

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    吕超; 韩学尧; 张晓梅; 孙秀芹; 张秀英; 周翔海; 任倩; 纪立农

    2011-01-01

    Objective To assess relationship of the single nucleotide polymorphisms (SNPs) at THADA locus with type 2 diabetes (T2DM) in northern Chinese Han population. Methods We genotyped 1050 patients with T2DM and 1030 control subjects for rsl3026309, rs4952986, rs6739828, rsl3029250, rsl3022691 at THADA genetic locus. The associations between these SNPs and T2DM were examined by logistic regression on additive, dominant, and recessive genetic models after adjusting for age, gender, and body mass index (BMI). Linear regression was used to analyze the associations between SNPs and quantitative diabetes-related traits. Results No significant association was found between any one of rsl3026309, rs4952986, rs6739828, rsl3029250, rsl3022691 with T2DM. Rs4952986 was associated with fasting insulin concentration, insulin resistance (HOMA-IR) and beta cell function (HOMA-β) assessed by homeostasis model in women under additive model (Empirical P values=0. 0095, 0. 0123, 0. 0089, respectively). Conclusion A common genetic variation of THADA loci is associated with higher level of fasting insulin, insulin resistance and beta-cell function in Chinese female population. We do not replicate the association of THADA gene with type 2 diabetes .%目的 评估甲状腺腺瘤相关基因(THADA)与中国北方汉族人群2型糖尿病(T2DM)的相关性.方法以1050例T2DM患者和1 030名糖耐量正常者(NGT)为研究对象,采用病例一对照研究设计,对THADA基因区的5个单核苷酸多态性(SNPs)位点:rs13026309、rs13029250、rs13022691、rs4952986、rs6739828进行基因分型,通过Logistic回归、线性回归分析等位基因变异与T2DM及其相关性状的关联.结果女性NGT人群在相加遗传模式下调整年龄、性别和BMI后,rs4952986位点与FIns(P=0.0095)、HOMA-IR(P=0.0123)、HOMA-β(P=0.0089)相关.结论 THADA基因的rs4952986位点在中国北方汉族女性人群中,与胰岛素抵抗、胰岛素分泌功能相关,所选的5

  16. Association analysis of the tyrosine hydroxylase gene polymorphisms with early-onset schizophrenia in Chinese population

    Institute of Scientific and Technical Information of China (English)

    吕钦谕

    2014-01-01

    Objective To investigate the relationship between the tyrosine hydroxylase(TH)gene and early-onset schizophrenia in Chinese Han population.Methods To tag single nucleotide polymorphisms(tag SNPs)rs2070762,rs6356 and rs11042978 in the TH gene were genotyped in 315 early-onset schizophrenics(188 male patients,127 female patients)and 391 controls subjects

  17. Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease

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    Yu Chaowen

    2011-12-01

    Full Text Available Abstract Background Autosomal dominant polycystic kidney disease (ADPKD is the most common inherited renal disease with an incidence of 1 in 400 to 1000. The disease is genetically heterogeneous, with two genes identified: PKD1 (16p13.3 and PKD2 (4q21. Molecular diagnosis of the disease in at-risk individuals is complicated due to the structural complexity of PKD1 gene and the high diversity of the mutations. This study is the first systematic ADPKD mutation analysis of both PKD1 and PKD2 genes in Chinese patients using denaturing high-performance liquid chromatography (DHPLC. Methods Both PKD1 and PKD2 genes were mutation screened in each proband from 65 families using DHPLC followed by DNA sequencing. Novel variations found in the probands were checked in their family members available and 100 unrelated normal controls. Then the pathogenic potential of the variations of unknown significance was examined by evolutionary comparison, effects of amino acid substitutions on protein structure, and effects of splice site alterations using online mutation prediction resources. Results A total of 92 variations were identified, including 27 reported previously. Definitely pathogenic mutations (ten frameshift, ten nonsense, two splicing defects and one duplication were identified in 28 families, and probably pathogenic mutations were found in an additional six families, giving a total detection level of 52.3% (34/65. About 69% (20/29 of the mutations are first reported with a recurrent mutation rate of 31%. Conclusions Mutation study of PKD1 and PKD2 genes in Chinese Hans with ADPKD may contribute to a better understanding of the genetic diversity between different ethnic groups and enrich the mutation database. Besides, evaluating the pathogenic potential of novel variations should also facilitate the clinical diagnosis and genetic counseling of the disease.

  18. Polymorphism Profile of Nine Short Tandem Repeat Loci in the Han Chinese

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    Shuangding Li; Chunxia Yan; Yajun Deng; Ruilin Wang; Jian Wang; Huanming Yang; Shengbin Li

    2003-01-01

    Nine short tandem repeat (STR) markers (D3S1358, VWA, FGA, THO1, TPOX,CSFIPO, D5S818, D13S317, and D7S820) and a sex-identification marker (Amel-ogenin locus) were amplified with multiplex PCR and were genotyped with afour-color fluorescence method in samples from 174 unrelated Han individuals inNorth China. The allele frequencies, genotype frequencies, heterozygosity, prob-ability of discrimination powers, probability of paternity exclusion and Hardy-Weinberg equilibrium expectations were determined. The results demonstratedthat the genotypes at all these STR loci in Han population conform to Hardy-Weinberg equilibrium expectations. The combined discrimination power (DP) was1.05 × 10-10 within nine STR loci analyzed and the probability of paternity exclusion(EPP) was 0.9998. The results indicate that these nine STR loci and the Amelo-genin locus are useful markers for human identification, paternity and maternitytesting and sex determination in forensic sciences.

  19. A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing

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    Xiaofei Xiu

    2014-01-01

    Full Text Available Alport syndrome (AS is a monogenic disease of the basement membrane (BM, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies. It is caused by mutations in the collagen type IV alpha-3 gene (COL4A3, the collagen type IV alpha-4 gene (COL4A4, and the collagen type IV alpha-5 gene (COL4A5, which encodes type IV collagen α3, α4, and α5 chains, respectively. To explore the disease-related gene in a four-generation Chinese Han pedigree of AS, exome sequencing was conducted on the proband, and a novel deletion mutation c.499delC (p.Pro167Glnfs*36 in the COL4A5 gene was identified. This mutation, absent in 1,000 genomes project, HapMap, dbSNP132, YH1 databases, and 100 normal controls, cosegregated with patients in the family. Neither sensorineural hearing loss nor typical COL4A5-related ocular abnormalities (dot-and-fleck retinopathy, anterior lenticonus, and the rare posterior polymorphous corneal dystrophy were present in patients of this family. The phenotypes of patients in this AS family were characterized by early onset-age and rapidly developing into end-stage renal disease (ESRD. Our discovery broadens the mutation spectrum in the COL4A5 gene associated with AS, which may also shed new light on genetic counseling for AS.

  20. The common variant rs11646213 is associated with preeclampsia in Han Chinese women.

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    Ji-peng Wan

    Full Text Available BACKGROUND: Preeclampsia, characterized by hypertension and proteinuria, is a multifactorial disease caused by complex interactions between environmental and genetic factors. A recent genome-wide association study of blood pressure reported an association between hypertension and rs11646213. This study evaluated the association between preeclampsia and rs11646213. METHODS: A total of 454 cases and 460 controls were recruited to participate in this study. The single nucleotide polymorphism (SNP rs11646213 was genotyped by polymerase chain reaction (PCR and direct sequencing. RESULTS: The allele frequency of rs11646213 was significantly different between the preeclampsia and control groups (P = 0.017, OR = 1.36, 95% CI = 1.06-1.76. Differences were particularly significant in the severe preeclampsia subgroup (P = 0.002, OR = 1.54, 95% CI = 1.17-2.03 and the early-onset preeclampsia subgroup (P = 0.004, OR = 1.57, 95% CI = 1.16-2.13. Genotyping analysis showed that the T allele of rs11646213 could confer a risk for preeclampsia, severe preeclampsia and early-onset preeclampsia. CONCLUSIONS: Rs11646213 upstream of the CDH13 gene is associated with preeclampsia in Han Chinese women.

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

    Science.gov (United States)

    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. PMID:26822593

  2. Mandibular incisive canal in Han Chinese using cone beam computed tomography.

    Science.gov (United States)

    Kong, N; Hui, M; Miao, F; Yuan, H; Du, Y; Chen, N

    2016-09-01

    The aim of this study was to provide reference information for implantology and chin bone harvesting in people of Han Chinese ethnicity by studying the mandibular incisive canal (MIC) using cone beam computed tomography (CBCT). Fifty subjects were included in the study. CBCT scans were obtained for all subjects, and 22 also underwent panoramic radiography to evaluate the visibility of the MIC. The CBCT data of the 50 subjects were reconstructed to measure MIC diameter, length, and location within the mandible. A MIC was identified in 38.6% of panoramic radiographs, with good clarity in 13.6%, while a MIC was identified in 100% of CBCT images, with good clarity in 63.6%. The diameter of the MIC decreased from origin to end. The left and right average MIC lengths were 17.84mm and 17.73mm, respectively. The MIC was close to the buccal cortical border and lower margin of the mandible. In conclusion, the MIC is an anatomical structure in the mandible that can be identified reliably with CBCT. On insertion, implants should be inclined slightly towards the lingual aspect of the anterior mandible to protect the MIC. The chin bone harvesting depth should be limited to 4mm; the harvesting site can be adjusted to the region above or below the MIC. PMID:27184354

  3. The association of metabolic syndrome with left ventricular mass and geometry in community-based hypertensive patients among Han Chinese

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    Shuxia Wang

    2015-01-01

    Full Text Available Background: The association of metabolic syndrome (MS with left ventricular (LV hypertrophy is controversial. The objective of our study was to investigate the influence of MS on LV mass and geometry in community-based hypertensive patients among Han Chinese. Materials and Methods: This study included 1733 metabolic syndrome patients according to the International Diabetes Federation (IDF definition and 2373 non-MS hypertension patients. LV hypertrophy was diagnosed by the criteria of LV mass ≥49.2 g/m 2.7 for men and 46.7 g/m 2.7 for women. LV geometric patterns (normal, concentric remodeling, concentric or eccentric hypertrophy were calculated according to LV hypertrophy and relative wall thickness. Logistic regression analysis was used to determine odds ratio (OR and 95% confidence interval (CI of MS for LV hypertrophy and LV geometry abnormality. Results: The LV mass and LV mass index were higher in the MS group than in the non-MS group. In multiple adjusted models. LV mass index, LV mass, interventricular septum, and post wall were raised with the increased number of MS disorders. MS was associated with increased LV hypertrophy risk (unadjusted OR 1.38; 95% CI 1.21-1.57; age, sex, and blood pressure (BP; adjusted OR 1.39; 95% CI 1.22-1.59. MS was also associated with increased risk of eccentric hypertrophy in male and female patients. MS was only associated with increased risk of concentric hypertrophy in female patients; and MS was not associated with concentric remodeling. Conclusion: LV mass and LV mass index were associated with the increased number of MS disorders in the Chinese community-based hypertensive population. MS was not only associated with increased LV hypertrophy risk, but also associated with concentric and eccentric LV geometry abnormality, especially in females.

  4. Association of Polymorphisms in STRA6 and RARRES2 Genes with Type 2 Diabetes in Southern Han Chinese

    Science.gov (United States)

    Liang, Bi-Yu; Li, Yun-Xi

    2016-01-01

    Stimulated by retinoic acid gene homolog 6 (STRA6) and retinoic acid receptor responder 2 (RARRES2) are candidate genes involved in the pathogenesis of type 2 diabetes mellitus (T2DM). Three tag-SNPs in STRA6 and one in RARRES2 gene were selected and genotyped with TaqMan or PCR-RFLP method in 603 populations (571 patients with T2D versus 632 control subjects) in Southern Han Chinese. We estimated the interactions between T2DM risk and genetic variants in the STRA6 and RARRES2 genes using polymerase chain reaction. Rs736118 in STRA6 gene were significantly associated with T2DM occurrence in the recessive genetic model. The genotype of rs974456 was significantly associated with T2DM in the dominant genetic model correlated to sex, MBI, and triglyceride. However, the association of other SNPs with T2DM was not found. Furthermore, smoking history and other factors may be independent risk factors for the incidence of T2DM. This study suggested that a role of STRA6 polymorphism could also be of value in predicting the risk of T2DM while RARRES2 polymorphism could not predict the risk of T2DM. PMID:27446956

  5. The study of the distal femur anterior posterior line and rotational alignment in Chinese Han population and its clinical significance%汉族人群正常股骨远端髁间前后轴线与旋转轴线的对位关系及其临床意义

    Institute of Scientific and Technical Information of China (English)

    马德思; 曲铁兵; 温亮; 潘江; 林源; 张博; 辛星; 赵潇雄; 王志为

    2014-01-01

    Objective To explore the distal femur anterior posterior line and rotational alignment in normal Chinese Han population and discuss its clinical application.Methods From October 2012 to July 2013,288 volunteers (148 males and 140 females) from Beijing,Hebei,Xinjiang and Chongqing,aged from 17 to 65(36.3 in average)had undergone CT scan of their lower limbs.The CT scan images of 575 normal knees (288 left and 287 right knees) were obtained.With computer-assisted image processing and reconstruction,the correlative parameters,including anterior posterior line with surgical transepicongdylar axis angle (ASA),anterior posterior line with clinical transepicondylar axis angle (ACA) and anterior posterior line with anterior posterior line angle(APA) were measured.The parameters of two groups between males and females,left and right sides were analyzed.Results ASA:87.19° ± 1.92° in average,87.03° ± 1.95° in males,87.35° ± 1.87° in females,87.33° ± 1.88° in left knees and 87.05° ± 1.95° in right knees; ACA:90.93° ±2.03° in average,90.68° ± 2.01° in males,91.19° ± 2.03° in females,91.05° ±1.93° in left knees and 90.81° ± 2.13° in right knees; APA:83.99° ± 2.16° in average,83.86° ± 2.20° in males,84.12° ± 2.12° in females,84.05° ± 2.09° in left knees and 83.92° ± 2.23° in right knees.There was significant difference between males and females in terms of ACA (t =3.000,P =0.003) and ACA in females was 0.51° larger than that in males.There was no significant difference both in gender and sides in terms of other parameters (all P values > 0.05).Conclusions The relatively accurate relationship between distal femur anterior posterior line and rotational alignment was obtained by investigating larger samples in Chinese Han population,and it can guide the osteotomy of distal femur to get the appropriate rotational alignment.%目的 探讨中国汉族人群正常股骨远端髁间前后轴线与旋转轴线的对位关系及在全膝关

  6. DVL2基因多态性与中国汉族人群先天性脊柱侧凸遗传易感性的关联研究%Association of DVL2 gene polymorphisms with susceptibility to congenital scoliosis in a Chinese Han population

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    费琦; 吴志宏; 王以朋; 周熹; 王海; 李想; 邱贵兴

    2011-01-01

    BACKGROUND: In recent 20 years, mouse molecular embryology research has achieved much molecular information regardingvertebrae development. It is possible to determine the candidate gene for congenital scoliosis (CS) using linear analysis.OBJECTIVE: To investigate the association of DVL2 polymorphisms with CS clinical phenotypes in a Chinese Han population byscreening key single nucleotide polymorphism sites of candidate gene DVL2.METHODS: A case-control design was applied in this study. A total of 127 patients diagnosed with CS and 127 scoliosis-freecontrol subjects were enrolled in this study. According to genotype data from International HapMap project, the key singlenucleotide polymorphisms (SNPs) of DVL2 were initially selected using Haploview 4.1 software. The patient group was classifiedinto different clinical phenotypes according to vertebral defect type, deformity location, defect degree, combined rib malformationsand neural canal deformity. All selected SNPs were genotype identified using SNPstream UHT Genotyping system. Anassociation analysis based on genotype/allele frequency was further performed. Pairwised linkage disequilibrium was evaluatedin the control group using Haploview 4.1 software.RESULTS AND CONCLUSION: Five SNPs of DVL2 gene were genotyped: SNP1 (rs2074222), SNP2 (rs222837), SNP3(rs222835), SNP4 (rs10671352) and SNP5 (rs222836), and all polymorphisms were in Hardy-Weinberg equilibrium both incontrol and in patient groups. Five SNPs were in linkage disequilibrium. No association (P > 0.05) was observed between SNPgenotypes/allele polymorphisms/haploid and CS risk and clinical phenotypes. Results showed that genetic variants of DVL2 genemay not be associated with the susceptibility to CS and different clinical phenotypes of CS in a Chinese Han population.%背景:近20年来小鼠的分子胚胎学研究进展获得了大量关于脊椎发育的分子信息,用同线性分析法确立先天性脊柱侧凸的候选基因已成为可

  7. Positive Association Between Type 2 Diabetes Risk Alleles Near CDKAL1 and Reduced Birthweight in Chinese Han Individuals

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    Xiao-Fang Sun

    2015-01-01

    Conclusions: This study identified the association between type 2 diabetes risk variants in CDKAL1 and birthweight in Chinese Han individuals, and the carrier of risk allele within SRR had the trend of reduced birthweight. This demonstrates that there is a clear overlap between the genetics of type 2 diabetes and fetal growth, which proposes that lower birth weight and type 2 diabetes may be two phenotypes of one genotype.

  8. The relationship between polymorphisms in the promoter region of Tim-3 and unexplained recurrent spontaneous abortion in Han Chinese women

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    Shen, Yang; Wang, Chen; Hong, Dun; Zeng, Baojin; Fang, Congcheng; Yuan, Chiting; Fan, Lilong; Lv, Haiyan; Zhu, Min

    2013-01-01

    Background Recurrent spontaneous abortion (RSA) refers to 2 or more consecutive pregnancy losses, and RSA with unknown causes is called unexplained recurrent spontaneous abortion (URSA). Tim-3, a subtype of the T-cell immunoglobulin domain and mucin domain (Tim) protein family, might be an important regulatory molecule that plays a pivotal role in URSA, which might be triggered mostly by Th1/Th2 immune deviation. To understand the etiology and pathogenesis of URSA in Han Chinese women, we inv...

  9. Association between ERAP1 gene polymorphisms and ankylosing spondylitis susceptibility in Han population

    OpenAIRE

    Wang, Jian; Li, Hang; Wang, Jianwei; Gao, Xiang

    2015-01-01

    Purposes: The present study was designed to investigate the relationship between endoplasmic reticulum amino peptidase 1 (ERAP1) gene polymorphisms and ankylosing spondylitis (AS) in Han population of Shaanxi province. Methods: 100 AS patients and 100 healthy people were enrolled in present study as case and control groups respectively, and the control group was matched with the case group by age and gender. ERAP1 gene rs27434 and rs7711564 polymorphisms were test by TaqMan probe genotyping m...

  10. Network-assisted analysis of primary Sjögren's syndrome GWAS data in Han Chinese.

    Science.gov (United States)

    Fang, Kechi; Zhang, Kunlin; Wang, Jing

    2015-01-01

    Primary Sjögren's syndrome (pSS) is a complex autoimmune disorder. So far, genetic research in pSS has lagged far behind and the underlying biological mechanism is unclear. Further exploring existing genome-wide association study (GWAS) data is urgently expected to uncover disease-related gene combination patterns. Herein, we conducted a network-based analysis by integrating pSS GWAS in Han Chinese with a protein-protein interactions network to identify pSS candidate genes. After module detection and evaluation, 8 dense modules covering 40 genes were obtained for further functional annotation. Additional 31 MHC genes with significant gene-level P-values (sigMHC-gene) were also remained. The combined module genes and sigMHC-genes, a total of 71 genes, were denoted as pSS candidate genes. Of these pSS candidates, 14 genes had been reported to be associated with any of pSS, RA, and SLE, including STAT4, GTF2I, HLA-DPB1, HLA-DRB1, PTTG1, HLA-DQB1, MBL2, TAP2, CFLAR, NFKBIE, HLA-DRA, APOM, HLA-DQA2 and NOTCH4. This is the first report of the network-assisted analysis for pSS GWAS data to explore combined gene patterns associated with pSS. Our study suggests that network-assisted analysis is a useful approach to gaining further insights into the biology of associated genes and providing important clues for future research into pSS etiology. PMID:26686423

  11. The Genetic Deafness in Chinese Population

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    LIU Xuezhong; Ouyang Xiaomei; Denise Yan

    2006-01-01

    Deafness is an etiologically heterogeneous trait with many known genetic, environmental causes or a combination thereof. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing. However, recent findings indicate that a large proportion of both syndromic and nonsyndromic forms of deafness in Chinese population are caused by a small number of mutations.This review is focused on syndromic and nonsyndromic deafness as well as on the latest information linking inherited mitochondrial pathologies to a variety of etiologies of sensorineural deafness in Chinese population. Better understanding of the genetic causes of deafness in Chinese population is important for accurate genetics counseling and early diagnosis for timely intervention and treatment options.

  12. Study on association between polymorphisms of 5-HTTLPR gene and anorexia nervosa in Chinese Han population%中国汉族人群5-羟色胺转运体基因多态性与神经性厌食的关联研究

    Institute of Scientific and Technical Information of China (English)

    岳玲; 张明岛; 贾秀珍; 陈珏; 禹顺英; 张燃; 袁爱花; 蒋文晖; 范娟; 肖泽萍

    2012-01-01

    Objective: To explore the genetic association between anorexia nervosa (AN) and polymorphism of serotonin transporter promoter gene (5-HTTLPR) in Chinese Han population. Method;The genotype is detected with PCR-RFLP technique to analyze the polymorphism of 5-HTTLPR among 198 patients with AN and 225 normal controls. Results;(1)Genotypes S/S,L/S,L/L distributed in AN patients were respectively 65.7% ,26. 8% ,7.6% and controls were 48.8% ,37. 8% , 13.4%. There was significant difference between patients and controls on genotype frequencies of 5-HTTLPR (P < 0. 05). Alleles S, L distributed in AN patients were respectively 79.0% ,21.0% ,and controls were 69. 3% ,30.1%. There was significant difference between patients and controls on alleles frequencies ( P < 0.05 ) . This study showed negative association of L al-lele with AN ( OR = 0. 52,95 % CI: 0. 35 - 0. 77) , and negative association of L/S genotype with AN ( OR = 0. 52,95% C/:0.34 ~0.79). (2)Genotypes of functionally triallelic polymorphism of 5-HTTLPR( LA/LA,S/LA + LA/LG.S /S + S /LG + LG/LG) distributed in AN patients were respectively 2. 0% ,12. 2% ,85. 8% ,and controls were 4. 1% ,23.4% ,72.5%. There was significant difference in frequency distributions of genotypes of functionally triallelic polymorphism of 5-HTTLPR between case group and control group (P < 0.05 ). This study showed negative association of LA allele with AN (OR =0.44,95%C/;0.25 ~0.77),and negative association of S/LA genotype with AN (OR =0. 44,95%C/:0.24~0.81). Conclusion: Polymorphism of 5-HTTLPR is probably associated with anorexia nervosa in this Han population;L,LA allele and L/S,S/LA genotype are the protective allele and genotype for the patients with AN.%目的:探讨中国汉族人群5-羟色胺转运体基因启动子区域(5-HTTLPR)多态性与神经性厌食的关系. 方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对198例神经性厌食患者和225例正常健康对照者进

  13. 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

    OpenAIRE

    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

    2016-01-01

    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 K...

  14. Association analysis between BDNF gene polymorphism and the anxiety symptoms of depressive disorder in Chinese Han population%脑源性神经营养因子基因rs6265与抑郁障碍患者焦虑症状的关联分析

    Institute of Scientific and Technical Information of China (English)

    刘莎; 任燕; 杨红; 赵新苗; 刘伟; 齐志宏; 杨爱国; 张克让

    2009-01-01

    Oblectlve To explore the association of brain-derived neurotrophic factor(BDNF)gene polymorphism and the anxiety symptoms of depressive disorder in Chinese Han population.Methods A total of 458 depressive patients diagnosed by DSM-Ⅳ were admitted in the study.The severity of depression and anxiety were respectively assessed with 17-item Hamilton Depression Hating Scale(17-HAMD)and Hamilton Anxiety Scale (HAMA).Polymerase chain reaction(PCR)and DNA direct sequencing technique were used to detect the genetic polymorphism of the BDNF gene.The analyses of the quantitative trait were performed by UNPHASED(version 3.0).Results There were no significant differences between HAMA score and polymorphism of the BDNF gene rs6265(alleles:X2=1.947,P=0.163;genotypes:X2=2.184,P=0.336).An association between the polymorphism and the quantitative character of anxiety symptoms were observed in the allele(mental anxious factor:X2=4.908,P=0.027;anxious mood:X2=4.312,P=0.038),but not in the genotype.Other item score of HAMA was showed no association with polymorphism of the BDNF gene rs6265(P>0.05).Conclusion The polymorphism in allele of BDNF gene may be associated with the anxiety symptoms of depressive patients.Polymorphism of the BDNF gene might constitute the appearance of the clinical manifestation-anxiety in depressive disorder.The result also suggests that the analysis of symptom phenotype may be more suitable for genetic study of depressive disorder.%目的 探讨脑源性神经营养因子(BDNF)基因rs6265与抑郁障碍患者焦虑症状的关联性.方法 采用聚合酶链反应技术(PCR)对458例抑郁障碍患者BDNF基因的多态性进行基因分型;运用汉密尔顿焦虑量表(HAMA)评估患者的焦虑症状及严重程度;采用数量性状分析比较不同等位基因及基因型间患者的焦虑症状是否有差异.结果 ①未发现抑郁障碍患者BDNF基因rs6265多态性与HAMA总分有关(等位基因:X2=1.947,P=0.163;基因型:X2=2.184,P=0

  15. [Gene and haplotype frequencies for the loci HLA-A, B and DRB1 in 11755 north Chinese Han bone marrow registry donors].

    Science.gov (United States)

    Wu, Qiang-Ju; Liu, Meng-Li; Qi, Jun; Liu, Sheng; Zhang, Yan; Wei, Xiao-Qian

    2007-04-01

    The study was aimed to investigate the human leukocyte antigen (HLA)-A, B, DRB1 alleles and haplotype frequencies and the characteristics of linkage disequilibrium in north Chinese Han bone marrow donors. HLA phenotype data of 11 755 north Chinese Han bone marrow donors were identified by PCR-SSP and PCR-SSO. HLA-A, B, DRB1 allele and haplotype frequencies were calculated by computer software named Arleguin which was based on Expectation-Maximization (EM) algorithms. The results showed that the population of 11755 unrelated-donors was tested by Hardy-Weinberg equilibrium, and 18,42 and 15 specificities of HLA alleles were identified on the HLA-A, B, DRB1 locus respectively, including HLA-A25, B42, B53, B73 and DR3 which were rarely reported in Han population. HLA-A36, A43, A80, B78, B82 and DR18 were not detected in this study. The most frequent alleles with a frequency of over 0.05 were HLA-A*02, A*11, A*24, A*33, A*30, A*01, A*03, A*13, B62, B*51, B*46, B60, B61, B*35, B*44, DRB1*15, DRB1*09, DRB1*04, DRB1*07, DRB1*12, DRB1*11, DRB1*14, DRB1*08, DRB1*13. There were a total of 2 026 kinds of HLA-A-B-DR haplotypes (with a frequency of over 10(-6)) to be obtained. The each frequency of 26 kinds of three-locus haplotypes including HLA-A30-B13-DR7, A2-B46-DR9, A33-B58-DR17 etc was higher than 0.005. A30-B13-DR7 was the most frequent haplotype in north Chinese Han population. There were a total of 538 kinds of haplotypes for HLA-A-B, 227 kinds for A-DR and 522 kinds for B-DR to be obtained, and there were 409, 195, 423 kinds of haplotypes respectively with a frequency higher than 10 - 6. There were 28 kinds of HLA-A-B haplotypes including A30-B13, A2-B46, A33-B58 etc, 26 kinds of HLA-A-DR haplotypes including A2-DR9, A2-DR15, A30-DR7 etc, and 24 kinds of HLA-B-DR haplotypes including B13-DR7, B46-DR9, B13-DR12 etc with a frequency higher than 0.01. 296 (72%) kinds of HLA-A-B, 130 (67%) kinds of A-DR and 308 (73%) kinds of B-DR haplotypes were statistical linkage

  16. A meta-analysis of relationship between β-fibrinogen gene -148C/T polymorphism and susceptibility to cerebral infarction in Han Chinese

    Institute of Scientific and Technical Information of China (English)

    CHEN Xiao-chao; XU Ming-tong; ZHOU Wu; HAN Chun-li; CHEN Wei-qing

    2007-01-01

    Objective The results of studies on association between -148C/T polymorphism in promoter region of β-fibrinogen gene and susceptibility to cerebral infarction in Chinese population are controversial. In this study, we summarize the results of published works in this field by a meta-analysis.Data sources Genetic association studies evaluating the β-fibrinogen gene -148C/T polymorphisms and cerebral infarction involving Chinese population published before December 2005 were collected from PubMed, EMBASE and CNKI.Study selection Case control studies involving unrelated, Han subjects aged from 18 to 80 years, and the internationally recognized diagnostic standard of cerebral infarction and genotype frequencies in control group consistent with Hardy-Weinberg equilibrium were used. Publication bias was tested by funnel plot and the odds ratios of all studies were combined dependent on the result of heterogeneity test among the individual studies. The software Review Manager (Version 4.2) was used for meta-analysis.Results Eleven studies including 1223 patients and 1433 controls met the selection criteria. There was no heterogeneity among the odds ratios (ORs) of individual studies (x2=17.82, P=0.06). The combined OR of susceptibility to cerebral infarction in -148T allele carriers compared to the wild homozygote was 1.32 (95%C/1.12 to 1.55, P=0.0008).In the patients with cerebral infarction, the average plasma fibrinogen level of allele T carrier was 0.42 g/L (95%CI 0.29 to 0.54, P<0.001), higher than that of -148C/C homozygous ones.Conclusions β-fibrinogen gene -148C/T polymorphism might contribute to susceptibility to cerebral infarction in Han Chinese. To reach a definitive conclusion, further gene to gene and gene to environment interactions studies on β-fibrinogen polymorphisms and cerebral infarction with large sample size are required.

  17. Genotyping for Kidd, Kell, Duffy, Scianna, and RHCE blood group antigens polymorphisms in Jiangsu Chinese Han

    Institute of Scientific and Technical Information of China (English)

    LIU Zhong; ZHANG Xue-guang; ZENG Rong; CHEN Qing; LI Min; SHI Guang-yao; WEI Peng; HUANG Cheng-yin; TANG Rong-cai; SUN Jun

    2012-01-01

    Background Molecular testing is more precise compared to serology and has been widely used in genotyping blood group antigens.Single nucleotide polymorphisms (SNPs) of blood group antigens can be determined by the polymerase chain reaction with sequence specific priming (PCR-SSP) assay.Commercial high-throughput platforms can be expensive and are not approved in China.The genotype frequencies of Kidd,Kell,Duffy,Scianna,and RhCE blood group antigens in Jiangsu province were unknown.The aim of this study is sought to detect the genotype frequencies of Kidd,Kell,Duffy,Scianna,and RhCE antigens in Jiangsu Chinese Han using molecular methods with laboratory developed tests.Methods DNA was extracted from EDTA-anticoagulated blood samples of 146 voluntary blood donors collected randomly within one month.Standard serologic assay for red blood cell antigens were also performed except the Scianna blood group antigens.PCR-SSP was designed to work under one PCR program to identify the following SNPs:JK1/JK2,KEL 1/KEL2,FYA/FYB,SC1/SC2,C/c and E/e.Results Serologic antigen results were identical to the phenotypes that were predicted from genotyping results.The allele frequencies for Jk*01 and Jk*02 were 0.51 and 0.49,respectively; for Fy*A and Fy*B 0.94 and 0.06; for RHCE*C and RHCE*c 0.68 and 0.32; and for RHCE*E and RHCE*e 0.28 and 0.72.Among 146 blood donors,all were KEL*02/KEL*02 and SC*01/SC*01,indicating allele frequencies for KEL*02 and SC*01 close to 1.00.Conclusions The use of PCR-SSP working under the same condition for testing multiple antigens at the same time is practical.This approach can be effective and cost-efficient for small-scale laboratories and in developing counties.These molecular tests can be also used for identifying rare blood types.

  18. Association between Interleukin-1 Gene Single Nucleotide Polymorphisms and Ischemic Stroke Classified by TOAST Criteria in the Han Population of Northern China

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    Zheng Zhang

    2013-01-01

    Full Text Available Increasing evidence suggests that IL-1β (C-511T and IL-1α (C-889T genes polymorphisms are associated with the susceptibility to cardiocerebral vascular disease. In this paper, we investigated the relationships between these polymorphisms and the risk of ischemic stroke (IS classified by TOAST criteria in the north Chinese Han population. 440 cases of IS and 486 age- and gender-matched controls of Chinese Han population were enrolled. Association study showed that the TT genotype and T allele of IL-1α-889 C/T were significantly associated with IS of a large artery atherosclerosis (LAA (TT: OR = 2.01, 95% CI = 1.34–3.0, and P<0.001; T: OR = 1.44, 95% CI = 1.18–1.78, and P=0.001. However, there was no significant difference in the distribution of IL-1α-889 C/T genotypes and allele frequencies between the two subgroups (small-artery occlusion (SVD and cardioembolism (CE of IS and control groups. No significant association was also found between the IL-1β-511 TT genotype and T allele (TT: OR = 0.79, 95% CI = 0.56–1.11, and P=0.175; T: OR = 0.83, 95% CI = 0.68–1.01, and P=0.066 and IS as well as subgroups of CE and SVD. Our results implicated that IL-1α-889 C/T gene polymorphism might be associated with the susceptibility to IS, especially to IS with LAA, in a north Chinese Han population.

  19. Perilipin Gene 1237 T>C Polymorphism is not Associated with Obesity Risk in Northern Chinese Han Adults

    Institute of Scientific and Technical Information of China (English)

    DONG-SHENG HU; JING XIE; DA-HAI YU; GUO-HENG XU; JIE LU; JIN-XIU YANG; CHUN-YANG LI; YAN-YAN LI

    2009-01-01

    Objective To identify the association between PLIN 1237 polymorphism and obesity in Chinese Han adults. Methods A total of 994 adults (157 obese subjects, 322 overweight subjects, and 515 normal controls) were recruited from two rural communities. PLIN 1237 polymorphism was genotyped by polymerase chain reaction-restriction-fragment-length-polymorphism (PCR-RFLP). Association between PLIN polymorphisms and obesity status was estimated by ordinal logistic regression. Results The three genotypes of PLIN 1237 were detected with a percentage of 54.3%, 37.1%, and 8.6% in TT, TC, and CC genotypes, respectively. For the PLIN 1237 polymorphism locus, the frequency of alleles T and C was 0.73 and 0.27, respectively. The PLIN 1237 polymorphisms were in Hardy-Weinberg equilibrium. PLIN 1237 polymorphism was not associated with obesity. The odds ratio for overweight or obesity for the CC+TC genotype was 0.8 (0.4, 1.4) in women (P=0.4) and 0.6 (0.3, 1.3) in men (P=0.2) after adjustment for age, education, household income and alcohol consumption, smoking, and physical activity. Conclusion Chinese Han adults have a lower frequency of variant-allele C in PLIN 1237. PLIN 1237 T>C polymorphism is not significantly associated with obesity in northern Chinese adults.

  20. Detecting the polymorphism sites of p53 and Fas genes of Han population in Zhejiang province

    Institute of Scientific and Technical Information of China (English)

    Yang Zhuo; Xingye Zeng; Dadao Huang; Xuexue Zhou

    2006-01-01

    BACKGROUND: It is of significance for single nucleotide polymorphisms (SNPs),a difference of rank, which exists widely in biology, genetics and other fields.OBJECTIVE: To detect polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene of healthy people in Han nationality in Zhejiang province.DESIGN: Simple random sampling.SETTING: Department of Surgery of the 118 Hospital of Chinese PLA.PARTICIPANTS: A total of 80 healthy people in Han nationality were selected from hospitals in Zhejiang province from August 2005 to January 2006. There were 43 males and 37 females aged from 3 to 78 years with the mean age of 39.5 years, and all subjects were consent. DNA which was used in genetic analysis was selected from peripheral venous blood of all subjects and maintained at -20 ℃.METHODS: Polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene were detected with directly DNA sequencing technique.MAIN OUTCOME MEASURES: Polymorphism sites in exon-4 of p53 gene, promotor of Fas gene and intron-7 of Fas gene of healthy people in Han nationality in Zhejiang province.RESULTS: A total of 80 samples were involved in the final analysis. SNPs sites were found at the 119th base of exon-4 of p53 gene (the 72nd codon of p53 gene), the 670th base of upper start codon in promotor of Fas gene (Fas-670), and the 995th base of intron-7 of Fas gene, especially SNPs in the 995th base of intron-7 pf Fas gene, I.e. C→A transversion, was a new site.CONCLUSION: One unknown SNPs site is discovered in intron-7 of Fas gene of people in Han nationality in Zhejiang province. This study also proves that the 72nd codon exists in p53 gene and the -670 polymorphism site exists in promotor of Fas gene.

  1. FGFR1OP tagSNP but not CCR6 polymorphisms are associated with Vogt-Koyanagi-Harada syndrome in Chinese Han.

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    Xianglong Yi

    Full Text Available BACKGROUND: Polymorphisms of the CC chemokine receptor 6 (CCR6 and FGFR10P tagSNP (locus close to CCR6 at 6q27 have recently been reported to be associated with the susceptibility to several immune-related diseases. This study was designed to determine the association of CCR6 and FGFR10P (tagSNPs with Vogt-Koyanagi-Harada (VKH syndrome, an autoimmune disease directed against melanocytes, in two independent Chinese Han populations. METHODOLOGY/PRINCIPAL FINDINGS: A total of 601 VKH patients and 725 healthy controls from two Chinese Han populations were genotyped by the polymerase chain reaction-restriction fragment length polymorphism method. Hardy-Weinberg equilibrium was tested using the χ(2 test. Genotype frequencies were estimated by direct counting. Allele and genotype frequencies were compared between patients and controls using the χ(2 test. The frequency of the A allele of rs2301436 was significantly higher both in Cohort 1 and Cohort 2 as compared with two separate controls (P = 0.044; P = 0.049, respectively. The significance was lost after Bonferroni correction in both cohorts (Pc = 0.516; Pc = 0.392, respectively. The frequency of the A allele was significantly higher in the combined patient group as compared with all controls before and after Bonferroni correction (P = 0.005, Pc = 0.025. The genotype and allele frequencies of rs3093024, rs6902119, rs3093023 and rs968334 were not different between patients with VKH and healthy controls based on analysis either for both cohorts or for the patients and controls in total. Analysis according to extra ocular clinical findings including headache, alopecia and poliosis, vitiligo and tinnitus did not show any association of the five polymorphisms with these parameters. CONCLUSION: These results suggest that the rs2301436 tagSNP of FGFR10P is positively associated with susceptibility to VKH syndrome in the tested Chinese Han populations. No association was found for

  2. Association of TSHR gene polymorphisms and haplotypes with Graves’ disease in Han population from coastal areas in Shandong province

    Institute of Scientific and Technical Information of China (English)

    王海丽

    2013-01-01

    Objective To investigate the association of thyroid stimulating hormone receptor(TSHR)gene polymorphisms and haplotypes with Graves’disease(GD)in Han population from coastal areas in Shandong province

  3. Association analysis of GWAS and candidate gene loci in a Chinese population with coronary heart disease

    Science.gov (United States)

    Gao, Min; Tang, Haiqin; Zheng, Xiaodong; Zhou, Fusheng; Lu, Wensheng

    2015-01-01

    Objective: Coronary heart disease (CHD), the most severe form of coronary artery disease (CAD), is a complex disease that involves a variety of genetic and environmental factors. Recently, multiple single nucleotide polymorphisms (SNPs) have been associated with CAD in Caucasians by genome-wide association (GWA) studies.However, the association of these SNPs with CHD in Asian populations has not yet been established. Here, we aim to investigate the genetic etiology of CHD in a Chinese population by genotyping SNPs previously been associated with CHD in other ethic origin in GWAS or candidate gene studies. Methods: Five SNPs, rs17114036, rs9369640, rs515135, rs579459 and rs8055236, from 5 different loci were genotyped using a sequenom Mass array system in 545CHD patients and 1008 unrelated controls from a Chinese population. Results: Our study showed that SNP rs515135 is strongly associated with CHD in a Chinese Han population (P-value=0.00333, OR=1.48). We also detected significant difference of SNP rs579459 in APOB gene in patients withsevere CAD compared to patients with mild CAD. Conclusion: SNP rs515135 is associated with the susceptibility of CHD in Chinese Han population. The location of rs515135 in the APOB gene supports its potential involvement in the pathogenesis of CAD. Our study data also support that SNP rs579459 may be associated with the severity of CHD. PMID:26221293

  4. Association of germline variation in CCNE1 and CDK2 with breast cancer risk, progression and survival among Chinese Han women.

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    Ji-Yuan Han

    Full Text Available BACKGROUND: Somatic alterations of cyclin-dependent kinase 2 (CDK2-cyclin E complex have been shown to contribute to breast cancer (BC development and progression. This study aimed to explore the effects of single nucleotide polymorphisms (SNPs in CDK2 and CCNE1 (a gene encoding G1/S specific cyclin E1 protein, formerly called cyclin E on BC risk, progression and survival in a Chinese Han population. METHODOLOGY/PRINCIPAL FINDINGS: We herein genotyped 6 haplotype-tagging SNPs (htSNPs of CCNE1 and 2 htSNPs of CDK2 in 1207 BC cases and 1207 age-matched controls among Chinese Han women, and then reconstructed haplotype blocks according to our genotyping data and linkage disequilibrium status of these htSNPs. For CCNE1, the minor allele homozygotes of three htSNPs were associated with BC risk (rs3218035: adjusted odds ratio [aOR] = 3.35, 95% confidence interval [CI] = 1.69-6.67; rs3218038: aOR = 1.81, 95% CI = 1.22-2.70; rs3218042: aOR = 2.64, 95% CI = 1.31-5.34, and these three loci showed a dose-dependent manner in increasing BC risk (P(trend = 0.0001. Moreover, the 5-SNP haplotype CCGTC, which carried none of minor alleles of the 3 at-risk SNPs, was associated with a favorable event-free survival (hazard ratio [HR] = 0.53, 95% CI = 0.32-0.90. Stratified analysis suggested that the minor-allele homozygote carriers of rs3218038 had a worse event-free survival among patients with aggressive tumours (in tumour size>2 cm group: HR = 2.06, 95% CI = 1.06-3.99; in positive lymph node metastasis group: HR = 2.41, 95% CI = 1.15-5.03; in stage II-IV group: HR = 2.03, 95% CI = 1.09-3.79. For CDK2, no significant association was found. CONCLUSIONS/SIGNIFICANCE: This study indicates that genetic variants in CCNE1 may contribute to BC risk and survival in Chinese Han population. They may become molecular markers for individual evaluation of BC susceptibility and prognosis. Nevertheless, further validation studies are needed.

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

    Science.gov (United States)

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

    2016-01-01

    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. PMID:27173274

  6. Association between single-nucleotide polymorphisms in six hypertensive candidate genes and hypertension among northern Han Chinese individuals.

    Science.gov (United States)

    Wang, Lijuan; Zhang, Bei; Li, Mei; Li, Chuang; Liu, Jielin; Liu, Ya; Wang, Zuoguang; Zhou, Jiapeng; Wen, Shaojun

    2014-12-01

    Hypertension is one of the leading risk factors for mortality. The renin-angiotensin-aldosterone system (RAAS) is a potent and powerful mediator in the homeostasis of hypertension. Here, the association between six candidate genes, renin, adrenoceptor β3, angiotensinogen, aldosterone synthase, angiotensin II receptor type 1 and angiotensin II receptor type 2, that are related to RAAS and essential hypertension (EH) was evaluated and explored in northern Chinese Han individuals. A case-control study including 1090 EH cases and 700 controls was performed. Eight single-nucleotide polymorphisms (SNPs), rs699, rs4762, rs5707, rs5186, rs4994, rs1799998, rs5193 and rs5194, located in the six genes were genotyped with TaqMan real-time PCR method. Statistical analysis software (SPSS 17.0) was used for descriptive statistics and association analyses. Among the six genes related to RAAS, the frequencies of rs4994 (ADRB3) and rs5194 (AGTR2) were found to be significantly different between the EH cases and controls (P ADRB3 rs4994 and CYP11B2 rs1799998 were significantly closely associated with EH in northern Han Chinese individuals. The CC of rs4994 and CC or C allele of rs1799998 might be protective genetic factors of hypertension. PMID:25099490

  7. Association analysis of the brain-derived neurotrophic factor gene polymorphisms with early-onset schizophrenia in the Chinese population

    Institute of Scientific and Technical Information of China (English)

    易正辉

    2012-01-01

    Objective To investigate the relationship between the brain-derived neurotrophic factor (BDNF) gene Tag SNPs(rs 11030101 and rs6265) and early-onset schizophrenia in the Chinese Han population. Methods The tag single nucleotide polymorphisms (tag SNPs) rs11030101 and rs6265 in the BDNF gene were genotyped

  8. Sex-dependent association of phosphodiesterase 4D gene polymorphisms with ischemic stroke in Henan Han population

    Institute of Scientific and Technical Information of China (English)

    HE Ying; QI Hua; SONG Guo-ying; ZHENG Hong; XU Yu-ming; BAI Jun-yu; SONG Bo; TAN Song; CHANG Yin-shu; LI Tao; SHI Cong-cong; ZHANG Hua; FENG Qing-chuan

    2012-01-01

    Background Recent evidence has implicated the gene for phosphodiesterase 4D (PDE4D) as susceptibility gene for ischemic stroke (IS) in lcelandic population.However,there are few reports on the associations between PDE4D gene polymorphisms and IS in Chinese individuals.The present study aimed to investigate the possible association of genetic polymorphisms in PDE4D gene with IS in Henan Han population.Methods A total of 400 patients with IS and 400 matched controls were examined using a case-control design.Two single nucleotide polymorphism (SNPs) (rs918592 and rs2910829) in PDE4D gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.Odds ratios (OR) and 95% confidence intervals (95% Cl) were calculated to test the association between the genetic factors and IS.Genetic parameter and association studies were carried out with SPSS 16.0.Results Among the two SNPs tested,the rs918592 was significantly associated with IS (OR:1.351,95% Cl:1.110-1.645),especially in male patients (OR:1.427,95% Cl:1.105-1.844).Haplotype analysis showed that A-T was associated with an increased risk of the IS (OR:2.114,95% Cl:2.005-2.230) while G-T was associated with decreased risk of IS (OR:0.419,95% Cl:0.302-0.583).Protecting effect of haplotype G-T was also significant in males (OR:0.264,95% Cl:0.162-0.431).Conclusions The present study demonstrated a strong association of rs918592 with IS.Haplotype A-T increased the risk of IS while haplotype G-T had a protective effect in Henan Hen population.The association was sex-dependent with male patients showing stronger effect.

  9. Association of mtDNA M/N haplogroups with systemic lupus erythematosus: a case-control study of Han Chinese women

    OpenAIRE

    Tang, Youzhou; Wang, Li; Zhu, Min; Yang, Ming; Zhong, Kuangbiao; Du, Qing; Zhang, Hao; Gui, Ming

    2015-01-01

    To investigate whether mitochondrial DNA haplogroups M or N are related to occurrence or manifestations of systemic lupus erythematosus (SLE), we collected M/N haplogrouping and clinical characteristics from 868 Han Chinese women with SLE, as well as for 870 age-matched healthy Han Chinese control women. M/N haplogroups were determined in all subjects using allele-specific amplification. The frequency of M haplogroup in all patients was 429 (49.4%) and the frequency of N haplogroup, 439 (50.6...

  10. 中文版蒙特利尔认知评估表在非痴呆性血管性认知障碍筛查中的研究%Feasibility study of the Montreal cognitive assessment of Chinese version for the detection of vascular cognitive impairment-no dementia in Han population

    Institute of Scientific and Technical Information of China (English)

    王益; 张志珺; 岳春贤; 滕玉环; 吴迪; 施咏梅

    2010-01-01

    Objective To explore feasibility of the Chinese version of MoCA for the detection of vascular cognitive impairment-no dementia (VaCIND) and control in a cross-sectional study. Methods One hundred and three Chinese Han were assessed by the MoCA and MMSE. 64 met criteria for VaCIND and 39 were considered cognitively normal. Sensitivities and specificities were calculated using the recommended cut-off scores,and ROC curve analyses were performed to determine optimal sensitivity and specificity. Results No differences were found between groups on age,gender,education degrees. According to their MoCA scores,cognitive impairments including memory,visuospatial, executive function, attention, language, and orientation sub-scores in VaCIND ((0.44 ± 0.96), (2.13 ±1.40), (1.90 ±1.02), (4.61 ±1.41), (4.23 ±1.40), (5.38 ±1.15)) significantly decreased compared with that in controls((2.92 ± 1.42) ,(3.16 ± 1.08) ,(3.32 ± 1.07) ,(5. 87 ±0.41) ,(5.34 ±0.75), (5.79 ±0. 70)) (P0.05),使用中文版MoCA发现VaCIND患者在包括记忆功能、视空间功能、执行功能、注意力、语言功能、定向力得分[分别为(0.44±0.96)分,(2.13±1.40)分,(1.90±1.02)分,(4.61±1.41)分,(4.23±1.40)分,(5.38±1.15)分]均低于正常对照组得分[分别为(2.92±1.42)分,(3.16±1.08)分,(3.32±1.07)分,(5.87±0.41)分,(5.34±0.75)分,(5.79±0.70)分],差异有显著性(P<0.05).MoCA在VaCIND的筛查中较MMSE灵敏,在截断值为24分时对VaCIND的筛查有较高的灵敏度和特异度,分别为0.923和0.906.结论 MoCA是一个简单可靠的VaCIND的筛选工具,并且较MMSE灵敏,需要进一步在大规模人群及不同种族人群中进行研究.

  11. Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene.

    Science.gov (United States)

    Shi, W T; Cai, C Y; Li, M S; Ling, C; Li, W D

    2015-01-01

    We identified three novel mutations of the GTP cyclohydrolase 1 (GCH1) gene in patients with familial dopa-responsive dystonia (DRD), but were unable to identify meaningful sporadic mutations in patients with no obvious family DRD background. To investigate whether GCH1 regional deletions account for the etiology of DRD, we screened for heterozygous exonic deletions in DRD families and in patients with sporadic DRD. Multiple ligation-dependent probe amplification analysis and quantitative real-time polymerase chain reaction amplification was performed in all members of our DRD cohort and in controls to detect exonic deletions in GCH1, tyrosine hydroxylase, and the epsilon-sarcoglycan-encoding (SGCE) genes. Using these techniques, we detected a GCH1 exon 1 heterozygous deletion in 1 of 10 patients with sporadic DRD. Therefore, we concluded that exonic deletion in the GCH1 gene only accounted for the etiology in a small percentage of patients with sporadic DRD in our Han Chinese cohort. PMID:26400349

  12. Haplotype data of 23 Y-chromosome markers in Minnan Han Chinese and comparison with those of 12 Y-chromosome markers.

    Science.gov (United States)

    Shang, Jie; Hu, Sheng-Ping

    2015-06-01

    We genotyped 23 Y-STR loci (DYS576, DYS389I, DYS448, DYS389II, DYS19, DYS391, DYS481, DYS549, DYS533, DYS438, DYS437, DYS570, DYS635, DYS390, DYS439, DYS392, DYS643, DYS393, DYS458, DYS385a/b, DYS456, and GATA-H4) in a sample of 109 unrelated male Chinese people residing in Minnan area and compared the results with those from our previous study on 12 Y-STR. The haplotype diversity and the discrimination capacity of the 23 Y-STR reached 0.9903 and 0.9725, respectively, and the genetic diversity for each locus ranged from 0.321 (DYS391) to 0.955 (DYS385). Besides, we observed a strong correlation between the number of Y-STR markers and the substantial improvement of forensic parameters used to discriminate between individuals. The results indicated that these highly polymorphic Y-STR markers were useful for human identification in forensic cases and paternity tests within the Minnan Han Chinese population. PMID:26072089

  13. Association of methylenetetrahydrofolate reductase C677T polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations

    Directory of Open Access Journals (Sweden)

    Cao Xiao-Li

    2010-10-01

    Full Text Available Abstract Background The association of methylenetetrahydrofolate reductase (MTHFR gene polymorphism and serum lipid profiles is still controversial in diverse ethnics. Bai Ku Yao is an isolated subgroup of the Yao minority in China. The aim of the present study was to eveluate the association of MTHFR C677T polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Methods A total of 780 subjects of Bai Ku Yao and 686 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of the MTHFR C677T was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results The levels of serum total cholesterol (TC, high-density lipoprotein cholesterol (HDL-C, low-density lipoprotein cholesterol (LDL-C, apolipoprotein (Apo AI and ApoB were lower in Bai Ku Yao than in Han (P P P P P P P Conclusions The differences in serum TC, TG, LDL-C and ApoB levels between the two ethnic groups might partly result from different genotypic and allelic frequencies of the MTHFR C677T or different MTHFR gene-enviromental interactions.

  14. Effect of genetic and coexisting polymorphisms on platelet response to clopidogrel in Chinese Han patients with acute coronary syndrome

    Indian Academy of Sciences (India)

    XU LIU; YU LUO; YAN LAI; YIAN YAO; JIMIN LI; YUNKAI WANG; S.LILLY ZHENG; JIANFENG XU; XUEBO LIU

    2016-06-01

    Polymorphisms of CYP2C19 are associated with platelet response to clopidogrel. This study was conducted to evaluate the contribution of the previously identified polymorphisms to the response of clopidogrel in a cohort of Chinese Han patients. Atotal of 222 acute coronary syndrome patients undergoing percutaneous coronary intervention treated with clopidogrel were enrolled from September 2012 to June 2013. Residual platelet aggregations for all patients were measured by the Verify Now P2Y12 system. Sixteen single-nucleotide polymorphisms among nine genes were genotyped including CYP2C19, ABCB1 and PON1. In this study, CYP2C19*2 and CYP2C19*17 were strongly associated with higher platelet aggregation and lower platelet aggregation to clopidogrel treatment, respectively (P ≯0.001). Patients with CYP2C19*2 allele had a higher risk of high on-treatment platelet reactivity than non carriers (adjusted OR, 5.434; 95% CI, 1.918–15.399, P=0.01). The coexistenceof CYP2B6*9 (rs8192719) and P2Y12 (rs2046934) and the coexistence of CYP2B6*1B (rs7254579) and P2Y12 (rs2046934) were also associated with poor response to clopidogrel. No significant relation of CYP2C19*3 and other polymorphisms to the platelet aggregation was found. In conclusion, CYP2C19*2, CYP2C19*17 coexistence of CYP2B6*9 (rs8192719) and P2Y12 (rs2046934) and coexistence of CYP2B6*1B (rs7254579) and P2Y12 (rs2046934) were identified to be associated with response to clopidogrel treatment in Chinese Han patients.

  15. Association of tag SNPs of GPx-3 with essential hypertension in rural Han Chinese in Fuxin, Liaoning, China

    Institute of Scientific and Technical Information of China (English)

    HAO Ying; LI Hong; SUN Ying-xian; WU Bao-gang; SHI Jin; CHEN Yan-li; SUN Zhao-qing; ZHENG Li-qiang; ZHANG Xin-gang; GENG Ning; LI Tie-jun

    2011-01-01

    Background Genetic mechanisms contribute to blood pressure regulation. This study investigated whether glutathione peroxidase (GPx-3) tag single nucleotide polymorphisms (SNPs) are associated with hypertension in the rural areas of Fuxin county, Liaoning province, China.Methods Indigenous Fuxin Han people participated, 523 unrelated hypertensives and 547 controls were recruited. All tag SNPs of GPx-3 gene were selected. We estimated SNP allele frequency in DNA pools with pyrosequencing.Results Before Bonferroni correction, C allele frequency for rs8177417 was significantly higher in hypertensives than those in controls (23.4% vs. 19.3%, P=0.014); T allele frequency for rs3828599 was significantly lower in hypertensives than those in controls (35.6% vs. 40.8%,P=0.009). However, when a Bonferroni correction for multiple testing was applied, only the polymorphisms rs3828599 of GPx-3 gene was associated with hypertension (P=0.045, OR: 0.833, 95%CI: 0.695-0.998).Conclusion The polymorphism of rs3828599 of GPx-3 gene might be associated with hypertension in rural Han Chinese from Fuxin, Liaoning.

  16. Vitamin D receptor genetic polymorphisms and tuberculosis among Chinese Han ethnic group

    Institute of Scientific and Technical Information of China (English)

    CAO Shang; LUO Peng-fei; LI Wei; TANG Wan-qin; CONG Xiao-na; WEI Ping-min

    2012-01-01

    Background In epidemiological studies,tuberculosis (TB) appears intimately with vitamin D insufficiency whereas its relationship with vitamin D receptor (VDR) polymorphism caused by radical difference remains unspecified.This study aimed to investigate the relationship between vitamin D genetic polymorphism and tuberculosis in Han ethnic group.Methods Meta-analysis was adopted in the synthetic quantitative analysis of documents home and abroad on the relationship between vitamin D genetic polymorphisms and tuberculosis,which were openly published during June 2000 to January 2010.Random effect model and fixed effect model analyses were used to calculate the incorporated odds ratio (OR) based on the heterogeneity test data.Results A total of 6 eligible studies were included in this analysis.The Fokl-ff genotype showed a significant marginal association (Fixed effect model:OR 1.91,95% CI 1.44-2.52; Random effect model:OR 1.91,95% CI 0.94-3.88),yet Taql polymorphisms was not significantly related to TB.Conclusion The interaction between FoKI genotype polymorphism and TB observed demonstrates that vitamin D deficiency might exist as a risk factor during the development of TB in Han ethnic group and more evidences needed to validate the conclusion.

  17. No Significant Effect of ASAP1 Gene Variants on the Susceptibility to Tuberculosis in Chinese Population

    Science.gov (United States)

    Hu, Xuejiao; Peng, Wu; Chen, Xuerong; Zhao, Zhenzhen; Zhang, Jingya; Zhou, Juan; Cai, Bei; Chen, Jie; Zhou, Yanhong; Lu, Xiaojun; Ying, Binwu

    2016-01-01

    Abstract Recent studies have proposed that the ASAP1 gene participates in regulating the adaptive immune response to Mycobacterium tuberculosis infection. A GWAS study has reported that ASAP1 polymorphisms (rs4733781 and rs10956514) were associated with the risk of tuberculosis (TB) in Russians. But due to population heterogeneity, different races would have different causative polymorphisms, and the aim of this study was to investigate the association between single nucleotide polymorphisms (SNPs) of the ASAP1 gene and TB risk in Chinese population. A total of 7 SNPs in the ASAP1 gene were genotyped in 1115 Western Chinese Han and 914 Tibetan population using an improved multiplex ligation detection reaction (iMLDR) method. The associations of SNPs with TB risk and clinical phenotypes were determined based on the distributions of allelic frequencies and different genetic models. A meta-analysis was carried out to further assess the relationship between ASAP1 polymorphism and TB risk. Statistical comparisons of cases and controls after correction for multiple testing did not yield any significant associations with the risk of TB via analyses of a single locus, haplotype, and subgroup differences. Meta-analysis showed no evidence supporting association between rs10956514 and overall risk for TB. Subsequent analysis referring to the genotypes of SNPs in relationship to clinical phenotypes identified that rs4236749 was associated with different serum C-reactive protein levels, suggesting a role of this locus in influencing the inflammatory state of Western Chinese Han patients with TB. Our present data revealed that ASAP1 polymorphisms are unlikely to confer susceptibility to TB in the Western Chinese Han and Tibetan populations, which challenges the promising roles of the ASAP1 gene in the development of TB and highlights the importance of validating the association findings across ethnicities. PMID:27227929

  18. Immunogenetic Study in Chinese Population with Ankylosing Spondylitis: Are There Specific Genes Recently Disclosed?

    Directory of Open Access Journals (Sweden)

    Jiayu Zhai

    2013-01-01

    Full Text Available Purpose. Ankylosing spondylitis (AS is a systemic, autoimmune disease resulting in the destruction of the affected joints. Over the past 5 years, several new genes or genetic regions associated with AS have been identified in the Chinese population. This paper aims to discuss the major findings and related potential mechanisms of these studies in our population. Recent Findings. In recent years, due to the rapid advances in computational genetics and technology, there has been an increasing list of well-validated genes or genetic regions associated with AS susceptibility. So far, several genes or genetic regions have now been reported in the Han ethnic Chinese population, containing the major histocompatibility complex (MHC, ERAP1, IL-23R, 12q12, 2p15, 5q14.3, and so on. Different hypotheses for disease mechanisms have been investigated on the basis of the functional studies of these genes or genetic regions. Summary. This paper tries to summarize the association of several candidate genes with risk for AS in the Han ethnic Chinese population and aims to identify the novel inflammatory pathways and provide potential strategies for better therapies.

  19. Association of HLA-DPB1 with scleroderma and its clinical features in Chinese population.

    Directory of Open Access Journals (Sweden)

    Jiucun Wang

    Full Text Available Human leukocyte antigen DPB1 was reported to contain singly nucleotide polymorphisms conferring the strongest susceptibility to systemic sclerosis in Korean population. However, associations of specific DPB1 alleles with SSc vary in different ethnic populations. The aim of this study was to profile DPB1 alleles in Chinese population and to identify specific DPB1 alleles in association with SSc and clinical and serological features of SSc in Han Chinese. A cohort containing 338 patients with SSc and 480 gender-matched and unrelated controls were examined in the study. The HLA-DPB1 genotyping was performed with sequence-based typing method. Exact p-values were obtained (Fisher's test from 2×2 tables of allele counts or allele carriers and disease status. Thirty eight DPB1 alleles were found in the cohort. DPB1*05:01 was the most common allele in this cohort. DPB1*03:01 and *13:01 were significantly increased in SSc. DPB1*13:01 association had already been described in other ethnic populations, whereas DPB1*03:01 was specific to Han Chinese patients with SSc. In addition, comparisons between SSc subsets indicated that patients carrying DPB1*03:01 were more likely to develop pulmonary fibrosis, DPB1*04 carriers were increased in SSc patients with anti-centromere autoantibodies and in contrast, SSc patients with homozygous DPB1*05:01 showed an opposite association with marginal significance.

  20. Population pharmacokinetics of propofol in Chinese patients

    Institute of Scientific and Technical Information of China (English)

    LIYu-Hong; RUIJian-Zhong; ZHOUYong-Gang; WANGLi-Qin; FUSu-E; YANGJian-Jun; LIuFu-Kun; HUShu-Ya; WENQuan; XUJian-Guo

    2003-01-01

    AIM:To analyze population pharmacokinetics of propofol in Chinese surgical patients using a nonlinear mixedeffect model (NONMEM) program and to quantitate the effects of covariance of gender, age, and body weight. METHODS: The population pharmacokinetics of propofol was investigated in 76 selective surgical patients (37 males and 39 females aged 19-77a, weighing 39-86kg). A total of 1439 blood samples were analyzed using NONMEM(NONMEM Projeft Group, University of California, San Francisco, CA). Interindividual variability was estimated fro clearances and distribution volumes. The effects of age, body weight, and gender were in vestigated. RESULTS: The pharmacokinetics of propofol in Chinese patients was best described by a three-compartment pharmacokinetic model. Body weight was found to be a significant factor for the elimination clearance, the two inter-compartmental clearances, and the volume of the central compartment. The volumes of the shallow peripheral compartment and deep peripheral compartment remain constant for all individuals. The estimates of these parameters for a 60-kg adult were 1.56L/min, 0.737L/min, 0.360L/min, 12.1L, 43L, and 213L, respectively. For old patients, the elimination clearance and volume of the central compartment decreased. CONCLUSION:The pharmacokinetics of propofol in Chinese patients can be well described by a standard three-compartment pharmacokinetic model. Inclusion of age and body weight as covariances significantly improved the model. Adjusting pharmacokinetics to the individual patients should improve the precision of target-controlled infusion system.

  1. Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Kuster-Hauser Syndrome in Chinese Han.

    Directory of Open Access Journals (Sweden)

    Wenqing Ma

    Full Text Available Mayer-Rokitansky-Küster-Hauser (MRKH syndrome is a rare syndrome that is characterized by congenital aplasia of the uterus and the upper portion (2/3 of the vagina. Previous attempts to identify causal mutations of MRKH syndrome have primarily resulted in negative outcomes. We investigated whether these reported variants are associated with MRKH syndrome (types I and II in a relatively large sample size of Chinese Han patients, and whether any gene-gene epistatic interactions exist among these variants.This study included 182 unrelated Chinese women with MRKH syndrome (155 with type I and 27 with type II and 228 randomized female controls. Seventeen candidate loci in the AMH, PBX1, WNT4, WNT7A, WNT9B, HOXA10, HOXA11, LHXA1 and GALT genes were genotyped using the Sequenom MassARRAY iPLEX platform. Single-marker association, additive effects and multifactor interactions were investigated.The gene frequency distributions of MRKH type 1 and type 2 were similar. Rs34072914 in WNT9B was found to be associated with MRKH syndrome (P = 0.024, OR = 2.65, 95%CI = 1.14-6.17. The dominant models of rs34072914 and rs2275558 in WNT9B and PBX1, respectively, were significantly associated with MRKH syndrome risk in the Chinese Han patients. Additive gene-gene interaction analyses indicated a significant synergetic interaction between WNT9B and PBX1 (RERI = 1.397, AP = 0.493, SI = 4.204. Multifactor dimensionality reduction (MDR analysis revealed novel dimensional epistatic four-gene effects (AMH, PBX1, WNT7A and WNT9B in MRKH syndrome.This association study successfully identified two susceptibility SNPs (WNT9B and PBX1 associated with MRKH syndrome risk, both separately and interactively. The discovery of a four-gene epistatic effect (AMH, PBX1, WNT7A and WNT9B in MRKH syndrome provides novel information for the elucidation of the genetic mechanism underlying the etiology of MRKH syndrome.

  2. Automated Determination of Bone Age in a Modern Chinese Population

    OpenAIRE

    Zhang, Shao-yan; Liu, Gang; Ma, Chen-Guo; Han, Yi-San; Shen, Xun-Zhang; XU, RUI-LONG; Thodberg, Hans Henrik

    2013-01-01

    Rationale and Objective. Large studies have previously been performed to set up a Chinese bone age reference, but it has been difficult to compare the maturation of Chinese children with populations elsewhere due to the potential variability between raters in different parts of the world. We re-analysed the radiographs from a large study of normal Chinese children using an automated bone age rating method to establish a Chinese bone age reference, and to compare the tempo of maturation in the...

  3. Measuring the volume of caudate nucleus in healthy Chinese adults of the Han nationality on the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To explore the normal range of the caudate nucleus' volume in Chinese adults of the Han nationality and provide morphological data for the construction of database for Chinese Standard Brain. Methods: This was a clinical multi-center study. One thousand Chinese healthy volunteers (age range =18 to 70) recruited from 16 hospitals were divided into 5 groups, i.e, Group A (age range = 18 to 30), B (age range =31 to 40), C (age range =41 to 50), D (age range =51 to 60), and E (age range =61 to 70). Each group contained 100 males and 100 females. All of the volunteers were scanned by MR using T1 weighted three-dimensional magnetization prepared rapid acquisition gradient echo sequence. The volume of caudate was measured manually using 3D volume analysis software. The difference of volumes of the caudate between male and female were analyzed by independent sample t-test, and among age groups by ANOVA. Pearson's correlation coefficient was used to characterize the relationship between volumes and age. The differences of measurements between left and right caudate nucleus were analyzed by paired t test. Results: (1) The mean volume of bilateral caudate nucleus in healthy Chinese adults was (10.973± 1.647) cm3. The mean volume of the the male's left and right caudate nucleus were (5.656±0.860) and (5.671±0.855) cm3 respectively,no significant differences were found between the volume of left and right caudate nucleus (t=1.230, P>0.05). The mean volume of the the female's left and right caudate nucleus were (5.287±0.774) and (5.331±0.766) cm3 respectively, and the right's was larger than the left's with significant differences (t=3.999, P<0.01); (2) Pearson correlation analysis showed a significant negative correlation between the nucleus volume and age (male and female's, left and right) (r=-0.561, -0.568, -0.548, -0.552, P<0.05). Conclusion: With high-resolution MRI and 3D volumetric analytic software (Midob), the volume of the caudate nucleus can be

  4. Increasing imputation and prediction accuracy for Chinese Holsteins using joint Chinese-Nordic reference population

    DEFF Research Database (Denmark)

    Ma, Peipei; Lund, Mogens Sandø; Ding, X;

    2015-01-01

    This study investigated the effect of including Nordic Holsteins in the reference population on the imputation accuracy and prediction accuracy for Chinese Holsteins. The data used in this study include 85 Chinese Holstein bulls genotyped with both 54K chip and 777K (HD) chip, 2862 Chinese cows g...

  5. 汉族面肩肱型肌营养不良症4q35致病区域基因结构特征及其与临床表型的关系%Characteristics of gene structure in facioscapulohumeral muscular dystrophy -related 4q35 subtelomere and genotype-phenotype correlation in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    王志强; 吴志英; 王柠; 林珉婷; 慕容慎行

    2009-01-01

    Objective To investigate the characteristics of gene structure in facioscapulohumeral muscular dystrophy (FSHD) -related 4q35 subtelomere, to analyze the distribution of 2 alleles (4qA and 4qB) distal to D4Z4 of this locus, and to further elucidate the genotype-phenotype correlation in Chinese Han FSHD patients. Methods Peripheral blood samples were collected from 52 unrelated families including 62 FSHD-affected and 57 unaffected members. Genomic DNA was extracted from the lymphocytes according to the specific procedure designed to minimize DNA shearing, then digested with EcoR Ⅰ or Hind Ⅲ, or double digested with EeoR Ⅰ and Bin Ⅰ. The cleaved DNA was separated by pulsed field electrophoresis (PFGE) and Southern blotting with the probes p13E-11,4qA, and 4qB. The size of FSHD-causing 4qA allele and its distribution was analyzed by " curve fitting". Then the characteristics of translocation and mosaicism, the frequencies of two allelic variants of chromosome 4q and their genotypes were calculated to analyze the genotype-phenotype correlation. Results It was found that 69 patients carried a short chromosome 4-type allele of 4qA origin with the length 10 - 38 kb. The mean length of these pathogenic EcoR Ⅰ/4qA arrays was 20 kb±7 kb, without significant difference between the sporadic cases and familial cases (t=1.413, P>0.05). Three different translocation types were observed with a translocation rate of 14.49%. The rate of 4q→10q translocation was 13.04%, significantly higher than that of 10q→4q translocation (1.45%, X2 = 6.900, P0.05 ; H = 0.693,P>0.05). Conclusion About 95% of Chinese FSHD patients carry a pathogenic 4-type allele of 4qA origin less than 30 kb long. The frequent translocations between chromosome 4q and 10q may play an essential rote for FSHD mechanism. The frequency of 4qA/4qB heterozygote is significantly higher than that of 4qA/4qA homozygote, while the allelic variant genotypes do not contribute to modify FSHD manifestations

  6. 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.

    Science.gov (United States)

    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

    2016-03-01

    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 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. PMID:26927145

  7. Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China

    OpenAIRE

    Xin, Feng; Yuan, Yongyi; Deng, Xiaoming; Han, Mingyu; Wang, Guojian; Zhao, Jiandong; Gao, Xue; Liu, Jun; Yu, Fei; Han, Dongyi; Dai, Pu

    2013-01-01

    Background Each year in China, 30,000 babies are born with congenital hearing impairment. However, the molecular etiology of hearing impairment in the Yunnan Province population where more than 52 minorities live has not been thoroughly investigated. To provide appropriate genetic testing and counseling to these families, we investigated the molecular etiology of nonsyndromic deafness in this population. Methods Unrelated students with hearing loss (n = 235) who attended Kunming Huaxia second...

  8. A family-based study of the association between the G72/G30 genes and schizophrenia in the Chinese population

    Institute of Scientific and Technical Information of China (English)

    FanggengZou; ChaoLi; ShiweiDuan; YonglanZheng; NiufanGu; GuoyinFeng; YanglingXing; JianguoShi; LinHe

    2005-01-01

    Studies have shown a strong positive association between schizophrenia and G72/G30, demonstrated by both individual markers and haplotypes. A further functional study also supports the role of G72 in the etiology of schizophrenia. In this study,we have replicated these results of transmission/disequilibrium testing (TDT) and haplotype analysis in the Han Chinese population, showing P values of 0.0018 and 0.00007 for individual markers and haplotypes, respectively. Hence, our datasupports the hypothesis that G72/G30 are important candidate genes for explaining schizophrenia in the Han Chinese population.

  9. Measuring the volume of cingulate cortex in Chinese normal adults of the Han nationality on the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To explore the normal range of cingulate cortex volumes of Chinese adults of the Han nationality and its relationship with age, which provide morphological data for the construction of database for Chinese Standard Brain. Methods: This is a clinical multi-center study. One thousand Chinese healthy volunteers (age range = 18 to 70) recruited from 15 hospitals were divided into 5 groups, i.e., Group A (age range = 18 to 30), B (age range =31 to 40), C (age range =41 to 50), D (age range =51 to 60), and E (age range =61 to 70). Each group contained 100 males and 100 females. All of the volunteers were scanned by MR using T1 weighted three-dimensional magnetization prepared rapid acquisition gradient echo sequence. Cingulate cortex volume (including bulk volume and the left/right volume) was measured semi-manually using 3D volume analysis software. Cingulate cortex volumes among age groups were compared by one-way ANOVA. Right and left cingulate cortex volumes between sexualities were analyzed by paired samples t test. The relationship between cingulate cortex volume and age was analyzed by Pearson correlations and regression analysis. Results: Cingulate cortex volumes of male and female were (20 347 ± 2504) and (19 432 ± 2184) mm3 respectively, and the male's was significantly larger than that of female's (two sample t'-test for independent samples, t'=6.156, P3 respectively, and those of female's were (10 064 ± 1407) and (9368 ± 1441) mm3 respectively. The volumes of cingulate cortex were significantly different between right and left in male or female (t=-12.960, -8.511, P3; right: (11212±1442), (11 096±1602), (11 040±1403), (10633±1638), (9604±1522) mm3] had statistical differences (F=16.738, 18.707, P3; right: (10 558± 1325), (10 266 ±1463), (10 100 ± 1497), (9779 ± 1304), (9617 ± 1254) mm3] also had significant differences (F=16.859,7.528,P<0.01). Bilateral cingulate cortex volume in both male and female were negatively correlated with

  10. Measuring the volume of temporal lobe in healthy Chinese adults of the Han nationality on the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To explore the morphological features of temporal lobe of healthy Chinese Han adults on the high-resolution MRI and provide morphological data of temporal lobe for the construction of database for Chinese Standard Brain. Methods: This is a clinical multi-center study. Three hundred healthy Chinese volunteers (male 150, and female 150) recruited from 15 hospitals were divided equally into five groups according to their age, i.e., 18-30 (Group A), 31-40 (Group B), 41-50 (Group C), 51- 60(Group D), 61-70(Group E). All subjects were scanned using T1WI 3D MPRAGE sequence and volumes of standardized temporal lobe were collected. The bilateral volumes of standardized temporal lobe were compared by variance analysis between male and female subjects and among five age groups. Results: The mean volumes of left and right temporal lobe were (97 126±15 703) mm3 and (97 015 ± 15 545) mm3 respectively for men, and (95 123 ± 14 564) mm3 and (96 423 ± 13 407) mm3 for women. The difference temporal lobe volume between male and female wasn't significant on the same side (F=1.336, 0.127, P= 0.249, 0.722). The left temporal lobe volumes of Group A-E were (93 873±13 351), (95 566± 11 964), (10 1890 ± 14 511), (93 972 ± 14 050) and (95 636 ± 19 864) mm3 respectively, and those on the right side were (93 409 ± 10 984), (98 158 ± 16 392), (102 079 ± 15 112), (95 448 ± 11 123) and (94 658 ± 16 928) mm3. There were significant differences among 5 groups between left and right temporal lobe volume(F=2.940, 3.514, P=0.021, 0.008). Further pairwise comparison revealed that left and right temporal lobe volume in Group C is higher than those of Group A and D (P0.05). Conclusion: High-resolution MRI could offer detailed images and precise morphological data of temporal lobe, which provides morphological data of temporal lobe for the construction of database for Chinese Standard Brain. (authors)

  11. Genetic variants in insulin-like growth factor binding protein-3 are associated with prostate cancer susceptibility in Eastern Chinese Han men

    Directory of Open Access Journals (Sweden)

    Zhang G

    2015-12-01

    Full Text Available Guiming Zhang,1–3 Yao Zhu,1,2 Fang Liu,4,5 Chengyuan Gu,1,2 Haitao Chen,4,5 Jianfeng Xu,4–6 Dingwei Ye1,2 1Department of Urology, Fudan University Shanghai Cancer Center, 2Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 3Department of Urology, The Affiliated Hospital of Qingdao University, Shandong, 4Fudan Institute of Urology, Huashan Hospital, Fudan University, 5State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, People’s Republic of China; 6Center for Cancer Genomics, Wake Forest School of Medicine, Winston-Salem, NC, USA Background: Growing evidence has indicated that insulin-like growth factor binding protein-3 (IGFBP-3 polymorphisms are associated with altered risk of prostate cancer (PCa. However, few studies have been conducted in Chinese population to validate this association. Materials and methods: Herein, we examined the association between genetic variants in the IGFBP-3 gene and PCa risk in the Chinese Han population based on a genome-wide association study (1,417 cases and 1,008 controls, and replicated three genetic variants loci in an independent case-control study (1,755 cases and 1,523 controls using Sequenom platform. Logistic regression analyses were performed to estimate odds ratios (ORs and 95% confidence intervals (95% CIs. Results: We found that in the discovery stage, rs9691259 (OR =0.691, 95% CI: 0.587–0.814, P<0.001 and rs6950179 (OR =1.420, 95% CI: 1.201–1.677, P<0.001 were significantly associated with PCa risk, whereas rs2854744 showed a marginal association with PCa risk. In the replication stage, the association between rs9691259 and rs6950179 and PCa risk was not replicated, whereas rs2854744 conferred a significant association with PCa risk (OR =1.399, 95% CI: 1.010–1.937, P=0.043. After combining the two stages, we found that rs9691259, rs6950179, and rs2854744 were all significantly associated with PCa risk. Conclusion

  12. [Genetic polymorphism of FIBRA,DHFRP2 and ACTBP2 and their forensic application in Yunnan Han population].

    Science.gov (United States)

    Jing, Qiang; Nie, Sheng-Jie

    2002-09-01

    To investigate the genetic polymorphism of FIBRA,DHFRP2 and ACTBP2 in Yunnan Han population as well as their application in forensic science, EDTA-blood specimens were collected from 200 healthy individuals. The DNA were extracted either by the Chloro form, phenol method or by the Chelex-100 method. The PCR products were analyzed by PAG vertical electrophoresis,following by silver staining. All gene frequencies, discrimination power (DP), exclusion of paternity probability (EPP), heterozygosity (H),polymorphisms information content (PIC),matching probability (PM) as well as the Hardy-Weinberg test were calculated. The obtained data are beneficial in the understanding of population genetics of the three STR loci in Yunnan Han population and the results suggest that these loci are valuable genetic markers for paternity testing and personal identification in forensic science practice. PMID:16135442

  13. Genetic variability of CYP2B6 polymorphisms in four southern Chinese populations

    Institute of Scientific and Technical Information of China (English)

    Bing-Ying Xu; Ming-Liang He; Li-Ping Guo; Shui-Shan Lee; Qing-Ming Dong; Yi Tan; Hong Yao; Li-Hua Li; Che-Kit Lin; Hsiang-Fu Kung

    2007-01-01

    AIM: To investigate the genotype and allelic frequencies of Cytochrome P450 2B6 polymorphisms in four southern Chinese populations.METHODS: DNA was obtained from blood samples from Han Chinese from Hong Kong and three minority groups,the Wa, Bulang and Lahu from Yunnan in southern China. Genotyping was performed using real-time PCR and confirmed by direct sequencing.RESULTS: A total of 507 subjects from southern China were studied. Results showed there is a high prevalence of 516G > T (34.5%) in ethnic Chinese compared to literature reports on other Asian populations and Caucasians. The frequency of the 516TT genotype is higher in the Hah majority (23.1%) than in three other ethnic minority groups (i.e., 7.4%, 9.1% and 15.8%) in southern China.CONCLUSION: This was the first study to document the spectrum of CYP2B6 allelic variants and genotypes in a southern Chinese population. The 516G > T allele is associated with a defective metabolism of efavirenz (EFV), which therefore may predispose to drug toxicity.Treatment regimens for human immunodeficiency virus (HIV) and heroin addiction may need to be optimized in different populations because of the marked variability of the key metabolizing enzyme.

  14. BAIAP2 exhibits association to childhood ADHD especially predominantly inattentive subtype in Chinese Han subjects

    OpenAIRE

    Liu, Lu; Sun, Li; Li, Ze-Hua; Li, Hai-Mei; Wei, Li-Ping; Wang, Yu-Feng; Qian, Qiu-Jin

    2013-01-01

    Background Attention-deficit/hyperactivity disorder (ADHD) is a common chronic neurodevelopmental disorder with a high heritability. Much evidence of hemisphere asymmetry has been found for ADHD probands from behavioral level, electrophysiological level and brain morphology. One previous research has reported possible association between BAIAP2, which is asymmetrically expressed in the two cerebral hemispheres, with ADHD in European population. The present study aimed to investigate the assoc...

  15. Gly71Arg UGT1A1 polymorphism is associated with breast cancer susceptibility in Han Chinese women.

    Science.gov (United States)

    Shi, J; Li, L H; Duan, X Y; Liu, Q; Sun, L L; Tian, Y T

    2016-01-01

    Breast cancer is among the most common causes of cancer-related death in women worldwide. Previous studies have demonstrated an association between prolonged estrogen exposure and increased risk of breast cancer. Uridine 5'-diphospho-glucuronosyltransferase 1-1 (UGT1A1) plays a significant role in the detoxification of estrogens. Two major genetic polymorphisms have been identified in the UGT1A1 locus. UGT1A1*28 has been previously linked to increased risk of breast cancer. The aim of this study was to elucidate the possible correlation between UGT1A1*6, a single nucleotide polymorphism causing a Gly71Arg substitution, and breast cancer susceptibility. Forty-six women diagnosed with breast cancer, 15 patients with gastrointestinal cancer, and 13 healthy women were recruited to this study. The genotype in the polymorphic UGT1A1 locus was determined by DNA sequencing. The frequency of each genotype was compared among the three groups. The frequency of the UGT1A1*6 allele was significantly higher in breast cancer and gastrointestinal cancer patients than that in healthy females (both P 0.05). Therefore, the UGT1A1*6 polymorphism was deduced to be a risk factor for breast cancer in women of Han Chinese ethnicity. UGT1A1 may serve as a therapeutic target for the prevention and treatment of breast cancer and other estrogen-related diseases. PMID:27525948

  16. A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan

    Directory of Open Access Journals (Sweden)

    Hardy John

    2006-12-01

    Full Text Available Abstract Background Parkinson's disease (PD is the most common neurodegenerative movement disorder, characterized clinically by resting tremor, bradykinesia, postural instability and rigidity. The prevalence of PD is approximately 2% of the population over 65 years of age and 1.7 million PD patients (age ≥ 55 years live in China. Recently, a common LRRK2 variant Gly2385Arg was reported in ethnic Chinese PD population in Taiwan. We analyzed the frequency of this variant in our independent PD case-control population of Han Chinese from Taiwan. Methods 305 patients and 176 genetically unrelated healthy controls were examined by neurologists and the diagnosis of PD was based on the published criteria. The region of interest was amplified with standard polymerase chain reaction (PCR. PCR fragments then were directly sequenced in both forward and reverse directions. Differences in genotype frequencies between groups were assessed by the X2 test, while X2 analysis was used to test for the Hardy-Weinberg equilibrium. Results Of the 305 patients screened we identified 27 (9% with heterozygous G2385R variant. This mutation was only found in 1 (0.5% in our healthy control samples (odds ratio = 16.99, 95% CI: 2.29 to 126.21, p = 0.0002. Sequencing of the entire open reading frame of LRRK2 in G2385R carriers revealed no other variants. Conclusion These data suggest that the G2385R variant contributes significantly to the etiology of PD in ethnic Han Chinese individuals. With consideration of the enormous and expanding aging Chinese population in mainland China and in Taiwan, this variant is probably the most common known genetic factor for PD worldwide.

  17. Associations of educational attainment, occupation, social class and major depressive disorder among Han Chinese women.

    Directory of Open Access Journals (Sweden)

    Jianguo Shi

    Full Text Available BACKGROUND: The prevalence of major depressive disorder (MDD is higher in those with low levels of educational attainment, the unemployed and those with low social status. However the extent to which these factors cause MDD is unclear. Most of the available data comes from studies in developed countries, and these findings may not extrapolate to developing countries. Examining the relationship between MDD and socio economic status in China is likely to add to the debate because of the radical economic and social changes occurring in China over the last 30 years. PRINCIPAL FINDINGS: We report results from 3,639 Chinese women with recurrent MDD and 3,800 controls. Highly significant odds ratios (ORs were observed between MDD and full time employment (OR = 0.36, 95% CI = 0.25-0.46, logP = 78, social status (OR = 0.83, 95% CI = 0.77-0.87, logP = 13.3 and education attainment (OR = 0.90, 95% CI = 0.86-0.90, logP = 6.8. We found a monotonic relationship between increasing age and increasing levels of educational attainment. Those with only primary school education have significantly more episodes of MDD (mean 6.5, P-value = 0.009 and have a clinically more severe disorder, while those with higher educational attainment are likely to manifest more comorbid anxiety disorders. CONCLUSIONS: In China lower socioeconomic position is associated with increased rates of MDD, as it is elsewhere in the world. Significantly more episodes of MDD occur among those with lower educational attainment (rather than longer episodes of disease, consistent with the hypothesis that the lower socioeconomic position increases the likelihood of developing MDD. The phenomenology of MDD varies according to the degree of educational attainment: higher educational attainment not only appears to protect against MDD but alters its presentation, to a more anxious phenotype.

  18. Further characterization of six miniSTR loci in the Han population from China

    Directory of Open Access Journals (Sweden)

    Zhen-jun JIA

    2012-02-01

    Full Text Available Objective  To describe the characteristics of two miniplex sets: NC01 (D10S1248, D14S1434 and D22S1045, which was recommended by EDNAP/ENFSI, and a new miniplex one (D2S2944, D18S872 and D19S591. Methods  DNA was extracted using the Chelex-100 extraction method. The products were genotyped by ABI PRISM® 310 Genetic Analyzer and the results were analyzed with GeneScan 3.7 and GenoTyper 3.7 software. Results  All loci meet Hardy-Weinberg equilibrium. The combined power of discrimination for the six loci in Chinese population was 0.9999 and the cumulative probability of exclusion was 0.9793. We also compared the sequencing data of NC01 with other different ethic groups. Conclusion  Two miniplex sets were constructed. These miniSTR makers have different characteristics in different ethic groups.

  19. Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men.

    Science.gov (United States)

    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

    2015-10-01

    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

  20. Association of HLA-DRB1 Alleles with Polymyositis/ Dermatomyositis in Northern Chinese Hans

    Institute of Scientific and Technical Information of China (English)

    翟宁; 张庆瑞; 韩秀萍; 宋芳吉

    2002-01-01

    The HLA system is a highly polymorphic antigen and genetic system in human,and different population has different distribution of HLA alleles. Polymyositis/dermatomyositis (PM/DM) are idiopathic inflammatory myopathies that are characterized clinically by proximal muscle weakness, elevations of serum muscle enzymes, especially creatine kinase (CK), and typical abnormal findings on electromyography. Significant association has been reported between PM/DM and HLA-DR3/DRB1 0301, DRB8/DRB1 08, DR6 and DR2.

  1. Correlation between single nucleotide polymorphism of FCRL-3 gene and Graves’ disease in Han population of northern Anhui province, China

    OpenAIRE

    Jin, Guo-Xi; Zhou, Yu-Ye; Yu, Lei; Bi, Ya-Xin

    2015-01-01

    Objective: The frequency distribution of A/G genotype at position-169 in promoter of FCRL3 gene (Fc receptor-like 3) was identified in Han population of northern Anhui Province. The correlation between single nucleotide polymorphism (SNP) at this site and genetic susceptibility of Graves disease (GD) was discussed. How the genotype at this position correlated to age, gender, severity of goiter, presence or absence of exophthalmos, levels of thyrotrophin receptor antibody (TRab), thyroid perox...

  2. Anthropometric measures of 9-to 10-year-old native tibetan children living at 3700 and 4300m above sea level and han Chinese living at 3700m

    DEFF Research Database (Denmark)

    Bianba, B.; Yangzong, Y.; Gonggalanzi, G.;

    2015-01-01

    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...... 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...... Tibetan children living at a higher residential altitude (Tingri) than the lower residential altitude (Lhasa), in addition to being higher among Han Chinese children than Tibetan children living at the same residential altitude (Lhasa). Thus, physical growth according to age, in terms of both height and...

  3. Haplotype analysis of the polymorphic 40 Y-STR markers in Chinese populations.

    Science.gov (United States)

    Ou, Xueling; Wang, Ying; Liu, Chao; Yang, Donggui; Zhang, Chuchu; Deng, Shujiao; Sun, Hongyu

    2015-11-01

    Forty Y-STR loci were analyzed in 1128 males from the following six Chinese ethnic populations: Han (n=300), Hui (n=244), Korean (n=100), Mongolian (n=100), Uighur (n=284) and Tibetan (n=100), utilizing two new generation multiplex Y-STR systems, AGCU Y24 STR and GFS Y24 STR genotyping kits, which allow for the genotyping of 24 loci from a single amplification reaction in each system. The lowest estimates of genetic diversity (below 0.5) correspond to markers DYS391 (0.441658) and DYS437 (0.496977), and the greatest diversity corresponds to markers DYS385a/b (0.969919) and DYS527a/b (0.94676). A considerable number of duplicate and off-ladder alleles were also revealed. Additionally, there were 1111 different haplotypes identified from the total 1128 samples, of which 1095 were unique. Notably, no shared haplotypes between populations were observed. The estimated overall haplotype diversity (HD) was 0.999085, and its discrimination capacity (DC) was 0.970745. An MDS plot based on the genetic distances between populations showed the genetic similarity of the southern Han population to the Northern populations of Hui, Korean, Mongolian and Uighur and a clear genetic departure of the Tibetan population from other populations. For the Y STR markers, population substructure correction was considered when calculating the rarity of the Y STR profile. However, because the haplotype based Fst values are extremely small within the present data (0.000153 with 40 Y-STRs), no substructure correction is required to estimate the rarity of a haplotype comprising 40 markers. In summary, the results of our study indicate that the 40 Y-STRs have a high level of polymorphism in Chinese ethnic groups and could therefore be a powerful tool for forensic applications and population genetic studies. PMID:26344901

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

    Institute of Scientific and Technical Information of China (English)

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

    2012-01-01

    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.

  5. 汉族人群磷酸二酯酶-4A基因单核苷酸多态性与双相障碍的关联分析%Association study between phosphodiesfierase-4A SNPs and bipolar disorder in the Han Chinese population

    Institute of Scientific and Technical Information of China (English)

    隋净净; 庞剑月; 曹素霞; 李恒芬

    2015-01-01

    目的 探讨汉族人群磷酸二酯酶-4A(PDE4A)基因单核苷酸多态性(SNPs)与双相障碍的关系.方法 采用病例对照研究,纳入432例双相障碍患者(病例组),健康对照569名(对照组);采用荧光实时定量PCR技术,分别检测病例组和对照组PDE4A的rs1057738和rs7256672的基因型和等位基因.结果 病例组与对照组比较发现,PDE4A rs1057738病例组的基因分布(AA、AC、CC的基因型频率分别为12%、8%、80%,A、C等位基因频率分别为16%、84%)与对照组(AA、AC、CC的基因型频率分布为2%、19%、79%,A、C等位基因频率分别为12%、88%)相比,差异均有统计学意义(P<0.001);PDE4A rs7256672病例组的基因分布(GG、GT、TT的基因型频率分别为18%、50%、32%,G、T等位基因频率分别为43%、57%)与对照组(GG、GT、TT的基因型频率分别为20%、48%、32%,G、T等位基因频率分别为45%、55%)相比,基因型和等位基因频率均未发现差异有统计学意义(P=0.620,P=0.446).结论 PDE4A rs1051738与双相障碍存在关联,可能是具有标志性意义的功能位点.%Objective To explore wbether there is an association between the single nucleotide polymorphisms (SNPs) of phosphodiestierase-4A (PDE4A) and bipolar disorder in Han population.Methods A casecontrol association study was done in this study,432 bipolar disorder patients(patients group),and 569 age and gender-matched controls(control group)were recruited.Real-time fluorescent quantitative polymerase chain reaction (PCR) was used to detect genotypes and alleles distributive frequency of rs1051738 and rs7256672 of 432 bipolar disorder patients and 569 normal people.Results The PDE4A rs1051738 genotypes and alleles frequency distribution between patients group(AA,AC,CC genotypes:12%,8%,80%,A,C alleles:16%,84%) and control group (AA,AC,CC genotypes:2%,19%,79%,A,C alleles:12%,88%) showed statistically significance (P< 0.01).The

  6. A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese.

    Directory of Open Access Journals (Sweden)

    Yun Liu

    Full Text Available Leukocyte telomere length (LTL is a predictor of aging and a number of age-related diseases. We performed genome-wide association studies of mean LTL in 2632 individuals,with a two-stage replication in 3917 individuals from Chinese populations. To further validate our findings, we get the results of 696 samples from a cohort of European ancestry. We identified two loci associated with LTL that map in telomerase reverse transcriptase (TERT; rs2736100, P = 1.93×10(-5 on chromosome 5p15.33 and near keratin 80 (KRT80; rs17653722, P = 6.96×10(-6 on 12q13.13. In Chinese population each C allele of rs2736100 and T allele of rs17653722 was associated with a longer mean telomere length of 0.026 and 0.059 T/S, respectively, equivalent to about 3 and 7 years of average age-related telomere attrition. Our findings provide new insights into telomere regulatory mechanism and even pathogenesis of age-related diseases.

  7. Potentially Functional Polymorphisms in POU5F1 Gene Are Associated with the Risk of Lung Cancer in Han Chinese

    Science.gov (United States)

    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

  8. Measuring the volume of the hippocampus in healthy Chinese adults of the Han nationality on the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To measure the volume of hippocampal formation (HPF) in healthy Chinese Han adults and provide database for researching on a variety of diseases associated with alteration of hippocampal structure. Methods: This is a clinical multi-center study. One thousand Chinese healthy volunteers (age range=18 to 70) recruited from 15 hospitals were divided into 5 groups, i. e., Group A (age range=18 to 30), B (age range=31 to 40), C (age range =41 to 50), D (age range =51 to 60), and E (age range = 61 to 70). Each group contained 100 males and 100 females. All of the volunteers were scanned by MR using T1 weighted three-dimensional magnetization prepared rapid acquisition gradient echo sequence. The margin of HPF were outlined manually for each side. Using multiple linear regression, relationships between hippocampal volume and sex, age, weight and height were analyzed respectively. Independent two sample t test was used to study the differences between male and female and between left and right. The differences of hippocampal volume among age groups were analyzed by ANOVA. Results: Hippocampal volume for left and right side were (4752±659) and (5032±660) mm3 respectively. The volume of HPF is significant correlated with gender and age, but without relevance to height and weight (left and right r=0.283,0.311, F=30.127,37.050,P3 respectively for men, and (4647±624) and (4904±630) mm3 for women. The right hippocampal volume was larger than the left (t=7.030,6.696, P3 respectively, while the volumes of the fight hippocampus were (5340± 647), (5276±582), (5264±620), (5133±661), (4894±699) mm3 respectively. Among age groups, the differences were statistically significant (left and right F=5.737,7.607, P0.05). There was no significant difference of hippocampal among different groups in women (P>0.05). Conclusions: With high-resolution MRI, the volume of the HPF was accurately measured, so as to provide the basic data for research of the hippocampus

  9. Network-assisted analysis of primary Sjögren’s syndrome GWAS data in Han Chinese

    Science.gov (United States)

    Fang, Kechi; Zhang, Kunlin; Wang, Jing

    2015-01-01

    Primary Sjögren’s syndrome (pSS) is a complex autoimmune disorder. So far, genetic research in pSS has lagged far behind and the underlying biological mechanism is unclear. Further exploring existing genome-wide association study (GWAS) data is urgently expected to uncover disease-related gene combination patterns. Herein, we conducted a network-based analysis by integrating pSS GWAS in Han Chinese with a protein-protein interactions network to identify pSS candidate genes. After module detection and evaluation, 8 dense modules covering 40 genes were obtained for further functional annotation. Additional 31 MHC genes with significant gene-level P-values (sigMHC-gene) were also remained. The combined module genes and sigMHC-genes, a total of 71 genes, were denoted as pSS candidate genes. Of these pSS candidates, 14 genes had been reported to be associated with any of pSS, RA, and SLE, including STAT4, GTF2I, HLA-DPB1, HLA-DRB1, PTTG1, HLA-DQB1, MBL2, TAP2, CFLAR, NFKBIE, HLA-DRA, APOM, HLA-DQA2 and NOTCH4. This is the first report of the network-assisted analysis for pSS GWAS data to explore combined gene patterns associated with pSS. Our study suggests that network-assisted analysis is a useful approach to gaining further insights into the biology of associated genes and providing important clues for future research into pSS etiology. PMID:26686423

  10. The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma

    Indian Academy of Sciences (India)

    Xiao-Ping Qi; Rong-Xin Zhang; Jin-Lin Cao; Zhen-Guang Chen; Hang-Yang Jin; Ren-Rong Yang

    2014-06-01

    We report intracellular RET mutation in a Han Chinese pedigree with familial medullary thyroid carcinoma (FMTC). Direct sequencing of RET proto-oncogene identified a missense c.2671T > G (p.S891A) mutation in 6 of 14 family members. The single nucleotide polymorphisms c. 135A > G (p.A45A), IVS4+48A >G, c. 1296A > G (p.A432A), c. 2071G > A (p.G691S), c. 2307T > G (p.L769L) and a variant c. 833C > A (p.T278N) were also found in 6 carriers. Among 5 of the 6 carriers presented medullary thyroid carcinoma (MTC) as an isolated clinical phenotype, with elevated basal serum calcitonin (Ct). Two underwent non-normative thyroidectomy either two or four times without physician awareness or diagnosis of this disease at initial treatment, but with elevated Ct. One with elevated pre-Ct accepted total thyroidectomy (TT) with modified bilateral neck dissection (MBiND), and whose seventh posterior rib MTC metastases was confirmed 5 months after surgery. Moreover, results of two affected individuals with elevated Ct were reduced to normal after TT with MBiND or prophylactic VI compartmental dissection. However, only another carrier with the variant p.T278N had slightly elevated Ct rejected surgery and was strictly monitored. Given these case results, we suggest that screening of RET and pre-surgical Ct levels in the management of MTC patients is essential for earlier diagnosis and more normative initial treatment, that FMTC patients with cervical lymph nodes metastases may be cured by TT with MBiND, and that prophylactic VI compartmental dissection should be avoided when Ct levels are low.

  11. Clinical features of patients with dysthymia in a large cohort of Han Chinese women with recurrent major depression.

    Directory of Open Access Journals (Sweden)

    Wenqing Wu

    Full Text Available BACKGROUND: Dysthymia is a form of chronic mild depression that has a complex relationship with major depressive disorder (MDD. Here we investigate the role of environmental risk factors, including stressful life events and parenting style, in patients with both MDD and dysthymia. We ask whether these risk factors act in the same way in MDD with and without dysthymia. RESULTS: We examined the clinical features in 5,950 Han Chinese women with MDD between 30-60 years of age across China. We confirmed earlier results by replicating prior analyses in 3,950 new MDD cases. There were no significant differences between the two data sets. We identified sixteen stressful life events that significantly increase the risk of dysthymia, given the presence of MDD. Low parental warmth, from either mother or father, increases the risk of dysthymia. Highly threatening but short-lived threats (such as rape are more specific for MDD than dysthymia. While for MDD more severe life events show the largest odds ratio versus controls, this was not seen for cases of MDD with or without dysthymia. CONCLUSIONS: There are increased rates of stressful life events in MDD with dysthymia, but the impact of life events on susceptibility to dysthymia with MDD differs from that seen for MDD alone. The pattern does not fit a simple dose-response relationship, suggesting that there are moderating factors involved in the relationship between environmental precipitants and the onset of dysthymia. It is possible that severe life events in childhood events index a general susceptibility to chronic depression, rather than acting specifically as risk factors for dysthymia.

  12. Polymorphism of the HLA-DQA1 and -DQB1 genes of Han population in Jiangsu Province, China

    Institute of Scientific and Technical Information of China (English)

    YU Rong-bin; HONG Xin; DING Wei-liang; TAN Yong-fei; WU Guan-ling

    2006-01-01

    @@ The HLA genes, located on the short arm of human chromosome 6, encode peptides involved in host immune response, are important in tissue transplantation and are associated with a variety of infectious, autoimmune, and inflammatory diseases. Moreover, the HLA loci display an unprecedented degree of diversity and the distribution of HLA alleles and haplotypes among different populations is considerably variable.1 The expression of particular HLA alleles may be associated with the susceptibility or resistance to some diseases.2 In this study, the genetic polymorphism of HLA-DQA1 and -DQB1 in Jiangsu Han population was analyzed by polymerase chain reaction-sequence-based typing (PCR-SBT).

  13. Dietary intake and practices in the Hong Kong Chinese population

    OpenAIRE

    Woo, J; Leung, S. S.; Ho, S C; Lam, T. H.; Janus, E. D.

    1998-01-01

    OBJECTIVES: To examine dietary intake and practices of the adult Hong Kong Chinese population to provide a basis for future public health recommendations with regard to prevention of certain chronic diseases such as cardiovascular disease, hypertension, and osteoporosis. PARTICIPANTS: Age and sex stratified random sample of the Hong Kong Chinese population aged 25 to 74 years (500 men, 510 women). METHOD: A food frequency method over a one week period was used for nutrient quantificatio...

  14. Automated Determination of Bone Age in a Modern Chinese Population

    International Nuclear Information System (INIS)

    Rationale and Objective. Large studies have previously been performed to set up a Chinese bone age reference, but it has been difficult to compare the maturation of Chinese children with populations elsewhere due to the potential variability between raters in different parts of the world. We re-analysed the radiographs from a large study of normal Chinese children using an automated bone age rating method to establish a Chinese bone age reference, and to compare the tempo of maturation in the Chinese with other populations. Materials and Methods. X-rays from 2883 boys and 3143 girls aged 2–20 years from five Chinese cities, taken in 2005, were evaluated using the BoneXpert automated method. Results. Chinese children reached full maturity at the same age as previously studied Asian children from Los Angeles, but 0.6 years earlier than Caucasian children in Los Angeles. The Greulich-Pyle bone age method was adapted to the Chinese population creating a new bone age scale BX-China05. The standard deviation between BX-China05 and chronologic age was 1.01 years in boys aged 8–14, and 1.08 years in girls aged 7–12. Conclusion. By eliminating rater variability, the automated method provides a reliable and efficient standard for bone age determination in China

  15. Genome-Wide Analysis of DNA Methylation and Cigarette Smoking in a Chinese Population

    Science.gov (United States)

    Zhu, Xiaoyan; Li, Jun; Deng, Siyun; Yu, Kuai; Liu, Xuezhen; Deng, Qifei; Sun, Huizhen; Zhang, Xiaomin; He, Meian; Guo, Huan; Chen, Weihong; Yuan, Jing; Zhang, Bing; Kuang, Dan; He, Xiaosheng; Bai, Yansen; Han, Xu; Liu, Bing; Li, Xiaoliang; Yang, Liangle; Jiang, Haijing; Zhang, Yizhi; Hu, Jie; Cheng, Longxian; Luo, Xiaoting; Mei, Wenhua; Zhou, Zhiming; Sun, Shunchang; Zhang, Liyun; Liu, Chuanyao; Guo, Yanjun; Zhang, Zhihong; Hu, Frank B.; Liang, Liming; Wu, Tangchun

    2016-01-01

    Background: Smoking is a risk factor for many human diseases. DNA methylation has been related to smoking, but genome-wide methylation data for smoking in Chinese populations is limited. Objectives: We aimed to investigate epigenome-wide methylation in relation to smoking in a Chinese population. Methods: We measured the methylation levels at > 485,000 CpG sites (CpGs) in DNA from leukocytes using a methylation array and conducted a genome-wide meta-analysis of DNA methylation and smoking in a total of 596 Chinese participants. We further evaluated the associations of smoking-related CpGs with internal polycyclic aromatic hydrocarbon (PAH) biomarkers and their correlations with the expression of corresponding genes. Results: We identified 318 CpGs whose methylation levels were associated with smoking at a genome-wide significance level (false discovery rate Zhang X, He M, Guo H, Chen W, Yuan J, Zhang B, Kuang D, He X, Bai Y, Han X, Liu B, Li X, Yang L, Jiang H, Zhang Y, Hu J, Cheng L, Luo X, Mei W, Zhou Z, Sun S, Zhang L, Liu C, Guo Y, Zhang Z, Hu FB, Liang L, Wu T. 2016. Genome-wide analysis of DNA methylation and cigarette smoking in Chinese. Environ Health Perspect 124:966–973; http://dx.doi.org/10.1289/ehp.1509834 PMID:26756918

  16. Mitochondrial DNA haplogroup associated with sperm motility in the Han population

    OpenAIRE

    Guo-fang FENG; Jing ZHANG; Feng, Li-Min; Shen, Nai-Xian; Li, Le-jun; Zhu, Yi-Min

    2013-01-01

    In this study, we aimed to determine whether the main mitochondrial DNA (mtDNA) haplogroups of the Han people have an impact on spermatozoa motility. We recruited 312 men who were consecutively admitted to two affiliated hospitals of College of Medicine, Zhejiang University from May 2011 to April 2012 as part of fertility investigations. Semen and whole blood samples were collected from the men. We determined the mtDNA haplogroups by analysing the sequences of mtDNA hypervariable segment I an...

  17. Distribution of HLA-A, -B, and -C Alleles and HLA/KIR Combinations in Han Population in China

    Directory of Open Access Journals (Sweden)

    Yunsong Shen

    2014-01-01

    Full Text Available We investigated polymorphisms of the human leukocyte antigen (HLA class I (A, B, and C loci of a Han population (n, 239 from the Yunnan province, Southwest China, using high-resolution polymerase chain reaction-Luminex (PCR-Luminex typing. We combined the HLA data from this study with the KIR genotypes from a previous study of this Han population to analyze the combination of KIR/HLA ligands. A total of 27 HLA-A, 54 HLA-B, and 31 HLA-C alleles were found in this population. The frequencies of A*11:01, A*24:02, B*40:01, B*46:01, C*01:02, C*03:04, and C*07:02 were all > 10%. The following haplotypes were common, with frequencies > 5%: 1 A-B (A*02:07-B*46:01, 2 A-C (A*02:07-C*01:02, and A*11:01-C*07:02, 4 C-B (B*13:01-C*03:04, B*40:01-C*07:02, B*46:01-C*01:02 and B*58:01-C*03:02, and 1 A-C-B (A*02:07-C*01:02-B*46:01. Analysis of KIR3D and their ligands HLA-A3/A11 and HLA-Bw4 showed that the frequencies of 3DL2+-A3/A11+ and 3DL2+-A3/A11− were 0.527 and 0.473, and the frequencies of 3DL1+-Bw4+, 3DL1+-Bw4−, 3DL1−-Bw4+, and 3DL1−-Bw4− were 0.552, 0.397, 0.038, and 0.013, respectively. The results of KIR/HLA-C combination analysis showed that all individuals had at least one inhibitory or activating KIR/HLA-C pair, and one KIR/HLA-C pair was the most frequent (157/239, followed by two pairs (46/239, three pairs (33/239, and no pairs (3/239. Comparison of KIR gene and HLA gene and their pair frequency between Yunnan Han and the isolated Han (FYDH who also lived in Yunnan province showed no significant difference (P>0.05 in KIR frequencies, but significant differences (P0.05 between the two populations for KIR/HLA pairs.

  18. On the Influence from Han Nationality Thinking on Chinese Grammar%论汉民族思维对汉语语法的影响

    Institute of Scientific and Technical Information of China (English)

    杨建

    2015-01-01

    The thinking and the language are closely related. Different thinking modes make the language show various characteristics. Different language structures will reflect different ways of thinking. Due to the geographical environment, national characteristics, and thousands of years of history development, the Han nationality has formed a deep meaning of thinking in character, and reflects the deep meaning thinking on the expression of the object . The Chinese grammar is the rule of Chinese structure, which is the result of Chinese abstract thinking used by Chinese people in a long term, and is close to their thinking.The deep meaning of thinking of the Han nationality is prominently reflected in Chinese grammar.%思维和语言关系密切,不同的思维模式会使语言表现出不同的特征,不同的语言结构则会体现出不同的思维方式.由于地域环境、民族特点和上千年的历史发展积淀,汉民族在思维上形成了重意的特点,在表达对象时体现出重意的思维.汉语语法是汉语的结构规则,是汉民族长期使用汉语抽象化的思维成果,与汉民族思维有着密切的关系.汉民族重意思维在汉语语法中有着突出的反映.

  19. Deep vein thrombosis and pulmonary embolism in the Chinese population

    OpenAIRE

    Nandi, PL; Li, WS; Leung, R.; Chan, HT; Chan, J

    1998-01-01

    Deep vein thrombosis and pulmonary embolism is a well-recognised major health problem in the West. There is a deep-rooted belief among clinicians that deep vein thrombosis is rare in Asians, particularly in the Chinese population. However, it appears that the incidence of venous thrombosis and pulmonary embolism is increasing in Chinese patients. Prophylaxis reduces the incidence of venous thrombosis by 66% and of pulmonary embolism by 50%Ը? prophylaxis should therefore be considered for Chin...

  20. An evaluation of the performance of HapMap SNP data in a Shanghai Chinese population: Analyses of allele frequency, linkage disequilibrium pattern and tagging SNPs transferability on chromosome 1q21-q25

    Directory of Open Access Journals (Sweden)

    Wang Jie

    2008-02-01

    Full Text Available Abstract Background The HapMap project aimed to catalog millions of common single nucleotide polymorphisms (SNPs in the human genome in four major populations, in order to facilitate association studies of complex diseases. To examine the transferability of Han Chinese in Beijing HapMap data to the Southern Han Chinese in Shanghai, we performed comparative analyses between genotypes from over 4,500 SNPs in a 21 Mb region on chromosome 1q21-q25 in 80 unrelated Shanghai Chinese and 45 HapMap Chinese data. Results Three thousand and forty-two SNPs were analyzed after removal of SNPs that failed quality control and those not in the HapMap panel. We compared the allele frequency distributions, linkage disequilibrium patterns, haplotype frequency distributions and tagging SNP sets transferability between the HapMap population and Shanghai Chinese population. Among the four HapMap populations, Beijing Chinese showed the best correlation with Shanghai population on allele frequencies, linkage disequilibrium and haplotype frequencies. Tagging SNP sets selected from four HapMap populations at different thresholds were evaluated in the Shanghai sample. Under the threshold of r2 equal to 0.8 or 0.5, both HapMap Chinese and Japanese data showed better coverage and tagging efficiency than Caucasian and African data. Conclusion Our study supported the applicability of HapMap Beijing Chinese SNP data to the study of complex diseases among southern Chinese population.

  1. Association of interleukin-10 gene polymorphisms with breast cancer in a Chinese population

    Directory of Open Access Journals (Sweden)

    Song Bao

    2010-06-01

    Full Text Available Abstract Backgroud Interleukin-10(IL-10 is a multifunctional cytokine with both immunosuppressive and antiangiogenic functions. Polymorphisms in the IL-10 gene promoter genetically determine interindividual differences in IL-10 production. This study was performed to determined whether polymorphisms in the IL-10 gene promoter were associated with breast cancer in a Chinese Han population. Methods We genotyped 315 patients with breast cancer and 322 healthy control subjects for -1082A/G, -819T/C and -592A/C single nucleotide polymorphisms in the promoter region of the IL-10 gene by polymerase chain reactionerestriction fragment length polymorphism (PCR-RFLP. Results There were no significant differences in genotype, allele, or haplotype frequencies in all three loci between patients and healthy controls. Analysis of breast cancer prognostic and predictive factors revealed that the -1082AA genotype was associated with a significantly increased risk of lymph node (LN involvement (P = 0.041 and larger tumor size (P = 0.039 at the time of diagnosis. Furthermore, in the haplotype analysis of IL-10 gene, we found that patients carrying ATA haplotype were in higher LN involvement (p = 0.022 and higher tumor stage(p = 0.028 of breast cancer at the time of diagnosis compared with others. Conclusions Our findings suggest that IL-10 promoter polymorphisms participate in the progression of breast cancer rather than in its initial development in Chinese Han women.

  2. Genetic polymorphisms and mutation rates of 27 Y-chromosomal STRs in a Han population from Guangdong Province, Southern China.

    Science.gov (United States)

    Wang, Ying; Zhang, Yong-Ji; Zhang, Chu-chu; Li, Ran; Yang, Yang; Ou, Xue-Ling; Tong, Da-yue; Sun, Hong-Yu

    2016-03-01

    In this study, we collected blood samples from 1033 father-son pairs of a Han population from Guangdong Province, Southern China, of which 1007 fathers were unrelated male individuals. All together, 2040 male individuals were analyzed at 27 Y-chromosomal short tandem repeats (Y-STRs) with Yfiler(®) Plus system. A total of 1003 different haplotypes were observed among 1007 unrelated fathers, with the overall haplotype diversity (HD) 0.999992 and discrimination capacity (DC) 0.996. The gene diversity (GD) values for the 27 Y-STR loci ranged from 0.4400 at DYS438 to 0.9597 at DYS385a/b. 11 off-ladder alleles and 25 copy number variants were detected in 1007 males. Population relationships were analyzed by comparison with 19 other worldwide populations. With 27,920 allele transfers in 1033 father-son pairs, 124 mutation events occurred, of which 118 were one-step mutations and 6 were two-step mutations. Eleven father-son pairs were found to have mutations at two loci, while one pair at three loci. The estimated locus-specific mutation rates varied from 0 to 1.74×10(-2), with an average estimated mutation rate 4.4×10(-3) (95%CI: 3.7×10(-3) to 5.3×10(-3)). Mutations were most frequently observed at three rapidly mutating Y-STRs (RM Y-STRs), DYS576, DYS518 and DYS627. However, at DYS570, DYS449 and DYF387S1 loci, which were also described as RM Y-STRs, the mutation rates in Guangdong Han population were not as high as estimated in other populations. PMID:26619377

  3. Associations of Lipoprotein Lipase Gene rs326 with Changes of Lipid Profiles after a High-Carbohydrate and Low-Fat Diet in Healthy Chinese Han Youth

    OpenAIRE

    Xing-chun Zhu; Jia Lin; Qian Wang; Hui Liu; Li Qiu; Ding-zhi Fang

    2014-01-01

    To investigate the effects of a high-carbohydrate and low-fat (HC/LF) diet on plasma lipids and apolipoproteins (Apos) of healthy Chinese Han youth with different genotypes of lipoprotein lipase gene (LPL) rs326, 56 subjects were given a washout diet of 30.1% fat and 54.1% carbohydrate for seven days, followed by the HC/LF diet of 13.8% fat and 70.1% carbohydrate for six days, with no total energy restriction. Plasma glucose, triglyceride (TG), total cholesterol (TC), high density lipoprotein...

  4. The long rather than the short allele of 5-HTTLPR predisposes Han Chinese to anxiety and reduced connectivity between prefrontal cortex and amygdala

    Institute of Scientific and Technical Information of China (English)

    Haixia Long; Bing Liu; Bing Hou; Chao Wang; Jin Li; Wen Qin; Dawei Wang

    2013-01-01

    The short allele of the serotonin-transporter gene is associated with higher risk for anxiety and depression in Caucasians,but this association is still unclear in Asians.Here,we addressed this issue using behavioral and multi-modal MRI approaches in a large group of healthy Han Chinese participants (n =233).In contrast to findings in Caucasians,we found that long-allele (L) carriers had higher anxiety scores.In another group (n =64) experiencing significant levels of depression or anxiety,the L-allele frequency was also significantly higher.In healthy participants,L-carriers had reduced functional and anatomical connectivity between the amygdala and prefrontal cortex (PFC),which was correlated with anxiety or depression scores.Our findings demonstrated that in Chinese Han participants,in contrast to Caucasians,the L-allele confers vulnerability to anxiety or depression and weakens top-down emotional control between the PFC and amygdala.Therefore,ethnic background should be taken into account in generelated studies and their potential clinical applications.

  5. Runs of homozygosity associated with speech delay in autism in a taiwanese han population: evidence for the recessive model.

    Directory of Open Access Journals (Sweden)

    Ping-I Lin

    Full Text Available Runs of homozygosity (ROH may play a role in complex diseases. In the current study, we aimed to test if ROHs are linked to the risk of autism and related language impairment. We analyzed 546,080 SNPs in 315 Han Chinese affected with autism and 1,115 controls. ROH was defined as an extended homozygous haplotype spanning at least 500 kb. Relative extended haplotype homozygosity (REHH for the trait-associated ROH region was calculated to search for the signature of selection sweeps. Totally, we identified 676 ROH regions. An ROH region on 11q22.3 was significantly associated with speech delay (corrected p = 1.73×10(-8. This region contains the NPAT and ATM genes associated with ataxia telangiectasia characterized by language impairment; the CUL5 (culin 5 gene in the same region may modulate the neuronal migration process related to language functions. These three genes are highly expressed in the cerebellum. No evidence for recent positive selection was detected on the core haplotypes in this region. The same ROH region was also nominally significantly associated with speech delay in another independent sample (p = 0.037; combinatorial analysis Stouffer's z trend = 0.0005. Taken together, our findings suggest that extended recessive loci on 11q22.3 may play a role in language impairment in autism. More research is warranted to investigate if these genes influence speech pathology by perturbing cerebellar functions.

  6. Association of Apo-E gene polymorphism with biochemical and lipid metabolism parameters in patients with diabetic nephropathy of Hui and Han populations in Gansu Province

    Institute of Scientific and Technical Information of China (English)

    郭茜

    2006-01-01

    Objective To study the association of apolipoprotein (Apo) E gene polymorphism with difference in biochemical metabolism of diabetic nephropathy of Hui and Han populations. Methods ApoE genotype was determined by PCR-RFLP in diabetic patients with or without diabetic nephropathy (DN) and normal peoples in Hui and Han peoples, the related biochemical parameters were simultaneously detected. Results (1) Huis had 3 genotypes, i. e. E2/E3, E3/E3 and E3/E4, and their fre-

  7. Relationship between IRS-2G1057D variant and type 2 diabetes mellitus in Han population in Liaoning Province, China

    Institute of Scientific and Technical Information of China (English)

    KONG Ling-fang; QIAN Cong; ZHENG Xiao-min; HOU Yong-sheng; LI Qiang; LIU Guo-liang

    2005-01-01

    @@ The two major pathogeneses of type 2 diabetes mellitus (T2DM) are insulin resistance and insulin secretion deficiency. During recent years, researches on the molecular target sites of insulin resistance and the mechanism of the signal transduction has made great progress: especially, the study of insulin receptor substrate-2 (IRS-2). Human IRS-2 gene is located at 13q8.6. IRS-2G1057D is a replacement of G (glycine) by D (aspartic acid) at site 1057 of insulin receptor substrate-2, which is caused by simple nucleotide polymorphism. The role of this variant is still not clear. We detected IRS-2G1057D variant in Han population in Liaoning Province by measuring body mass index (BMI), waistline/hip ratio (WHR) and other parameters of insulin secretion, as well as insulin action to explore the relationship between IRS-2G1057D variant and T2DM.

  8. Evidence for association of D1S249 locus on human chromosome 1 with the susceptibility to essential hypertension in Han Chinese

    Institute of Scientific and Technical Information of China (English)

    ZHENG; Yong; (

    2001-01-01

    [1]Jeunemaitre, X., Soubrier, F., Kotelevtsev, Y. V. et al., Molecular basis of hypertension: role of angiotensinogen, Cell, 1993, 71: 169.[2]Hingorani, A. D., Sharma, P., Jia, H. et al., Blood pressure and M235T polymorphism of the angiotensinogen gene, Hypertension, 1996, 28: 907.[3]Liu, Y., Zhou, W. Y., Qiu, C. C. et al., Association analysis of polymorphisms of ACE gene and AGT gene with essential hypertension in Chinese Han's population, Chin. Med. Sci. J., 1998, 13(2): 71.[4]Davies, E., Bonnar, D. A., Lathrop, G. M. et al., Human angiotensin II type I receptor locus, CA repeat polymorphism and genetic mapping, Hum. Mol. Genet., 1994, 3: 838.[5]Kainulainen, K., Perola, M., Terwilliger, J. et al., Evidence for involvement of the type I angiotensin II receptor locus in essential hypertension, Hypertension, 1999, 33: 844.[6]Wang, W. Y. S., Zee, R. Y. L., Morris, B. J. et al., Association of angiotensin II type I receptor gene polymorphism with essential hypertension, Clin. Genet., 1997, 51: 31.[7]Mastana, S., Nunn, J., Angiotensin-converting enzyme deletion polymorphism is associated with hypertension in a sikh population, Human Hered., 1997, 47: 250.[8]Poirier, O., Georges, J. L., Ricard, S. et al., New polymorphisms of the angiotensin II type I receptor gene and their associations with myocardial infarction and blood pressure: the ECTIM study, J. of Hypertension, 1998, 16: 1443.[9]Liu, Y., Qiu, C. C., Zhou, W. Y. et al., Gene polymorphisms of the renin-angiotensin system in essential hypertension, Chinese Medical Journal, 1999, 112(2): 115.[10] Todd, J. A., Genetic analysis of type I diabetes using whole genome approaches, Proc. Natl. Acad. Sci. USA, 1995, 92: 8560.[11] Hanis, C. L., Boerwinkle, E., Chakraborty, R. et al., A genome-wide search for human non-insulin-dependent (type II) diabetes genes reveals a major susceptibility locus on chromosome 2, Nature Genetics, 1996, 13: 161.[12] Hager, J., Dina, C

  9. Association of single nucleotide polymorphisms in the 3'UTR of ERAP1 gene with essential hypertension in the Northeastern Han Chinese.

    Science.gov (United States)

    Yang, Sibao; Liu, Xueyan; Gao, Yongjian; Ding, Mei; Li, Bing; Sun, Huan; He, Yuquan; Yang, Ping

    2015-04-15

    Endoplasmic reticulum aminopeptidase 1 (ERAP1) may be involved in blood pressure regulation by inactivation of angiotensin II and generation of bradykinin. Our previous study with cDNA microarray indicated that the expression of ERAP1 is down-regulated in essential hypertension (EH) patients. Since the 3'untranslated region (3'UTR) is known to play an important role in the post-transcriptional regulation by influencing the stability and translation process of mRNA, the present study aims to identify single nucleotide polymorphisms (SNPs) in the 3'UTR of ERAP1 gene in a case-control study among the Northeastern Han Chinese through PCR-sequencing, and analyze the association with EH. Our results further verified the lower expression level of ERAP1 in the peripheral blood cells in patients with EH (917.12±517.57 vs. 1506.59±1214.09pg/mL, P=0.011). Four SNPs, 3'UTR-761G>A, 3'UTR-787C>T, 3'UTR-1008A>C and 3'UTR-1055A>G, were identified in the 3'UTR of ERAP1. 3'UTR-1008A>C and 3'UTR-1055A>G were in almost complete linkage disequilibrium. Association analysis showed that the genotypic and allelic frequencies of 3'UTR-1008A>C and 3'UTR-1055A>G were significantly different between EH and the control groups. Logistic regression and haplotypic analysis indicated that alleles of E20-1037C and E20-1084G as well as haplotype of C-G were the risk factors of EH (PC and 3'UTR-1055A>G as well as the haplotypes C-G and A-A were significantly different between EH and the control in the younger group (C and 3'UTR-1055A>G polymorphisms of ERAP1 gene were associated with EH, especially in the younger population, and the haplotype C-G could be the independent marker of EH. PMID:25665737

  10. Genetic relationship between serum pregnancy-associated plasma protein-A gene polymorphism and ischemic cerebrovascular disease in a Northern Han Chinese population☆

    OpenAIRE

    Wang, Haiping; Song, Yan; Zhang, Chen; Zhan, Jingjing; Zhang, Rui; Wang, Haiji

    2012-01-01

    The present study recruited 193 patients with ischemic cerebrovascular disease from Inpatient and Outpatient Departments at the Affiliated Hospital of Qingdao University Medical College, China from August 2008 to May 2010, as well as 120 healthy volunteers from the Medical Examination Center at the Affiliated Hospital of Qingdao University Medical College, China, who served as controls for this study. Patients and control subjects were from the Han population in northern China. Enzyme- linked...

  11. Polymorphism of Prodynorphin promoter is associated with schizophrenia in Chinese population

    Institute of Scientific and Technical Information of China (English)

    Chang-shun ZHANG; Zheng TAN; Lan YU; Sheng-nan WU; Ying HE; Niu-fan GU; Guo-yin FENG; Lin HE

    2004-01-01

    AIM: To investigate the correlation between single nucleotide polymorphisms (SNPs) of functional candidate gene Prodynorphin (PDYN) and schizophrenia. METHODS: SNPs in the promoter and exon regions of PDYN were screened and genotyped for association study in a cohort of Chinese Han schizophrenia cases and controls. RESULTS:Two SNPs PDYN-1576C>T and PDYN-946C>G were identified in the promoter region but PDYN-946C>G showed significant differences of allele distribution (x2=6.15, P=0.013) and genotype distribution (x2=6.87, P=0.032) between schizophrenic and control subjects. CONCLUSION: PDYN-946C>G polymorphism demonstrated an association with population susceptibility to schizophrenia (P<0.05).

  12. Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population

    Science.gov (United States)

    Li, Dan; Wang, Siying; Ye, Hongfei; Tang, Yating; Qiu, Xiaodi; Fan, Qi; Rong, Xianfang; Liu, Xin; Chen, Yuhong; Yang, Jin

    2016-01-01

    Purpose This study aimed to investigate the genetic effects underlying non-familial sporadic congenital cataract (SCC). Methods We collected DNA samples from 74 patients with SCC and 20 patients with traumatic cataract (TC) in an age-matched group and performed genomic sequencing of 61 lens-related genes with target region capture and next-generation sequencing (NGS). The suspected SCC variants were validated with MassARRAY and Sanger sequencing. DNA samples from 103 healthy subjects were used as additional controls in the confirmation examination. Results By filtering against common variants in public databases and those associated with TC cases, we identified 23 SCC-specific variants in 17 genes from 19 patients, which were predicted to be functional. These mutations were further confirmed by examination of the 103 healthy controls. Among the mutated genes, CRYBB3 had the highest mutation frequency with mutations detected four times in four patients, followed by EPHA2, NHS, and WDR36, the mutation of which were detected two times in two patients. We observed that the four patients with CRYBB3 mutations had three different cataract phenotypes. Conclusions From this study, we concluded the clinical and genetic heterogeneity of SCC. This is the first study to report broad spectrum genotyping for patients with SCC. PMID:27307692

  13. Genetic Variation in the EGFR Gene and the Risk of Glioma in a Chinese Han Population

    OpenAIRE

    Hou, Wu-Gang; Ai, Wen-Bo; Bai, Xiao-Guang; Dong, Hai-long; Li, Zhen; Zhang, Yuan-Qiang; Xiong, Li-Ze

    2012-01-01

    Previous studies have shown that regulation of the epidermal growth factor gene (EGFR) pathway plays a role in glioma progression. Certain genotypes of the EGFR gene may be related to increased glioblastoma risk, indicating that germ line EGFR polymorphisms may have implications in carcinogenesis. To examine whether and how variants in the EGFR gene contribute to glioma susceptibility, we evaluated nine tagging single-nucleotide polymorphisms (tSNPs) of the EGFR gene in a case–control study f...

  14. CNTNAP2 Is Significantly Associated With Speech Sound Disorder in the Chinese Han Population.

    Science.gov (United States)

    Zhao, Yun-Jing; Wang, Yue-Ping; Yang, Wen-Zhu; Sun, Hong-Wei; Ma, Hong-Wei; Zhao, Ya-Ru

    2015-11-01

    Speech sound disorder is the most common communication disorder. Some investigations support the possibility that the CNTNAP2 gene might be involved in the pathogenesis of speech-related diseases. To investigate single-nucleotide polymorphisms in the CNTNAP2 gene, 300 unrelated speech sound disorder patients and 200 normal controls were included in the study. Five single-nucleotide polymorphisms were amplified and directly sequenced. Significant differences were found in the genotype (P = .0003) and allele (P = .0056) frequencies of rs2538976 between patients and controls. The excess frequency of the A allele in the patient group remained significant after Bonferroni correction (P = .0280). A significant haplotype association with rs2710102T/+rs17236239A/+2538976A/+2710117A (P = 4.10e-006) was identified. A neighboring single-nucleotide polymorphism, rs10608123, was found in complete linkage disequilibrium with rs2538976, and the genotypes exactly corresponded to each other. The authors propose that these CNTNAP2 variants increase the susceptibility to speech sound disorder. The single-nucleotide polymorphisms rs10608123 and rs2538976 may merge into one single-nucleotide polymorphism. PMID:25895914

  15. Systematic Confirmation Study of GWAS-Identified Genetic Variants for Kawasaki Disease in A Chinese Population

    Science.gov (United States)

    Lou, Jiao; Zhong, Rong; Shen, Na; Lu, Xu-zai; Ke, Jun-tao; Duan, Jia-yu; Qi, Yan-qi; Wang, Yu-jia; Zhang, Qing; Wang, Wei; Gong, Fang-qi; Miao, Xiao-ping

    2015-01-01

    Genome-wide association studies (GWASs) have identified multiple single nucleotide polymorphisms (SNPs) associated with Kawasaki disease (KD). In this study, we replicated the associations of 10 GWAS-identified SNPs with KD in a Han Chinese population. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by logistic regression, and cumulative effect of non-risk genotypes were also performed. Although none of the SNPs reached the corrected significance level, 4 SNPs showed nominal associations with KD risk. Compared with their respective wild type counterparts, rs1801274 AG+GG genotypes and rs3818298 TC+CC genotypes were nominally associated with the reduced risk of KD (OR = 0.77, 95% CI = 0.59–0.99, P = 0.045; OR = 0.74, 95% CI = 0.56–0.98, P = 0.038). Meanwhile, rs1801274 GG genotype, rs2736340 CC genotype or rs4813003 TT genotype showed a reduced risk trend (OR = 0.57, 95% CI = 0.35–0.93, P = 0.024; OR = 0.46, 95% CI = 0.26–0.83, P = 0.010; OR = 0.64, 95% CI = 0.43–0.94, P = 0.022), compared with rs1801274 AG+AA genotypes, rs2736340 CT+TT genotypes or rs4813003 TC+CC genotypes, respectively. Furthermore, a cumulative effect was observed with the ORs being gradually decreased with the increasing accumulative number of non-risk genotypes (Ptrend<0.001). In conclusion, our study suggests that 4 GWAS-identified SNPs, rs2736340, rs4813003, rs3818298 and rs1801274, were nominally associated with KD risk in a Han Chinese population individually and jointly. PMID:25645453

  16. Population Migration in the Western Regions during the Han Dynasty%论汉代西域的人口迁移

    Institute of Scientific and Technical Information of China (English)

    陈跃

    2014-01-01

    There were a series of population migration in the western regions in the Han Dynasty. The migration can be roughly divided into two types: migration between the nomads and that between the farming and the nomadic. The population migration in west regions also included population plunder in wars, soldiers of garrison reclamation in the western regions and the whole group migration of Wusun nomads. By and large, the population migration in that period was mainly compulsory. The population migration during that period of time exerted a far-fetching influence on politics, economy, cultural development and national layout in the western regions.%两汉时期,西域发生了一系列具有一定规模人口迁移现象。人口迁移大致可以分成游牧民族间的迁移和农耕与游牧民族间的迁移两大类型。西域地区人口迁移包括了战争对人口的掠夺、汉族将士在西域的戍守农垦以及乌孙等游牧民族的全族迁移等。总体看,该时期人口迁移以强制性和被迫性迁移为主。该时期人口迁移对西域的政治经济、文化发展和民族布局产生了深远的影响。

  17. Novel NR5A1 missense mutation in premature ovarian failure: detection in han chinese indicates causation in different ethnic groups.

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    Xue Jiao

    Full Text Available BACKGROUND: The etiology of most premature ovarian failure (POF cases is usually elusive. Although genetic causes clearly exist and a likely susceptible region of 8q22.3 has been discovered, no predominant explanation exists for POF. More recently, evidences have indicated that mutations in NR5A1 gene could be causative for POF. We therefore screened for mutations in the NR5A1 gene in a large cohort of Chinese women with non-syndromic POF. METHODS: Mutation screening of NR5A1 gene was performed in 400 Han Chinese women with well-defined 46,XX idiopathic non-syndromic POF and 400 controls. Subsequently, functional characterization of the novel mutation identified was evaluated in vitro. RESULTS: A novel heterozygous missense mutation [c.13T>G (p.Tyr5Asp] in NR5A1 was identified in 1 of 384 patients (0.26%. This mutation impaired transcriptional activation on Amh, Inhibin-a, Cyp11a1 and Cyp19a1 gene, as shown by transactivation assays. However, no dominant negative effect was observed, nor was there impact on protein expression and nuclear localization. CONCLUSIONS: This novel mutation p.Tyr5Asp, in a novel non-domain region, is presumed to result in haploinsufficiency. Irrespectively, perturbation in NR5A1 is not a common explanation for POF in Chinese.

  18. Transfer of ERR for radiation-related leukemia from Japanese population to Chinese population

    International Nuclear Information System (INIS)

    Objective: To establish a transfer model for excess relative risk (ERR) for radiation-related leukemia from Japanese population to Chinese population. Methods: Combined ERR of several subtypes of leukemia published in 1994, with the corresponding leukemia baseline incidence rates obtained from Cancer Incidence in Five Continents Vol. Ⅸ (CI5-Ⅸ) for Japanese population and Chinese population, a weighted risk transfer model was employed between an additive model and a multiplicative model, to execute ERR transfer. Results: A range of weighing factors was proposed for risk transfer models: weighing factor was 0.4 for male and 0.3 for female, acute lymphoblastic leukemia, acute myeloid leukemia and chronic myeloid leukemia. The uncertainty for ERR transfer was characterized by lognormal distribution. Conclusions: Based on the difference of baseline incidence rate for subtypes of leukemia between Japanese population and Chinese population, the transfer model and these weighing factors discussed in the present study could be applicable to transfer ERR for radiation-related leukemia from Japanese population to Chinese population. (authors)

  19. Developmental validation of an X-Insertion/Deletion polymorphism panel and application in HAN population of China

    Science.gov (United States)

    Zhang, Suhua; Sun, Kuan; Bian, Yingnan; Zhao, Qi; Wang, Zheng; Ji, Chaoneng; Li, Chengtao

    2015-01-01

    InDels are short-length polymorphisms characterized by low mutation rates, high inter-population diversity, short amplicon strategy and simplicity of laboratory analysis. This work describes the developmental validation of an X-InDels panel amplifying 18 bi-allelic markers and Amelogenin in one single PCR system. Developmental validation indicated that this novel panel was reproducible, accurate, sensitive and robust for forensic application. Sensitivity testing of the panel was such that a full profile was obtainable even with 125 pg of human DNA with intra-locus balance above 70%. Specificity testing was demonstrated by the lack of cross-reactivity with a variety of commonly encountered animal species and microorganisms. For the stability testing in cases of PCR inhibition, full profiles have been obtained with hematin (≤1000 μM) and humic acid (≤150 ng/μL). For the forensic investigation of the 18 X-InDels in the HAN population of China, no locus deviated from the Hardy–Weinberg equilibrium and linkage disequilibrium. Since they are independent from each other, the CDPfemale was 0.999999726 and CDPmale was 0.999934223. The forensic parameters suggested that this X-Indel panel is polymorphic and informative, which provides valuable X-linked information for deficient relationship cases where autosomal markers are uninformative. PMID:26655948

  20. Meta-analysis of two Chinese populations identifies an autoimmune disease risk allele in 22q11.21 as associated with systemic lupus erythematosus

    OpenAIRE

    Yan ZHANG; Wang, Yong-Fei; Yang, Jing; Zhang, Jing; Sun, Liangdan; Hirankarn, Nattiya; Pan, Hai-Feng; Lau, Chak Sing; Chan, Tak Mao; Lee, Tsz Leung; Leung, Alexander Moon Ho; Mok, Chi Chiu; Zhang, Lu; Shen, Jiangshan Jane; Wong, Sik Nin

    2015-01-01

    Introduction Systemic lupus erythematosus (SLE) is a heterogeneous disease with a diverse spectrum of clinical symptoms, ranging from skin rash to end-organ damage. 22q11.21 has been identified as a susceptibility region for several autoimmune diseases, including SLE. However, detailed information for SLE association and the underlying functional mechanism(s) is still lacking. Methods Through meta-analysis of two genome-wide association studies (GWAS) on Han Chinese populations, comprising a ...

  1. Help-Seeking Behavior during Elevated Temperature in Chinese Population

    OpenAIRE

    Chan, Emily Ying Yang; Goggins, William B.; Kim, Jacqueline Jakyoung; Griffiths, Sian; Ma, Timothy K. W.

    2011-01-01

    The negative impact of extreme temperatures on health is well-established. Individual help-seeking behavior, however, may mitigate the extent of morbidity and mortality during elevated temperatures. This study examines individual help-seeking behavior during periods of elevated temperatures among a Chinese population. Help-seeking patterns and factors that influence behavior will be identified so that vulnerable subgroups may be targeted for health protection during heat crises. A retrospecti...

  2. Identification of IGF1, SLC4A4, WWOX, and SFMBT1 as hypertension susceptibility genes in Han Chinese with a genome-wide gene-based association study.

    Directory of Open Access Journals (Sweden)

    Hsin-Chou Yang

    Full Text Available 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

  3. Analysis of female nasal characteristics in Chinese beautiful Han's females%中国美貌汉族女性鼻部特征的测量

    Institute of Scientific and Technical Information of China (English)

    祖青; 米丛波; 李运科; 宋美云; 杨川

    2012-01-01

    BACKGROUND: Based on nose characteristics of beautiful Chinese Han nationality female was established for diagnosis and treatment of aesthetic plastic surgery. OBJECTIVE: To explore nose aesthetic features of Chinese Han nationality beauty female through the measurement of 30 beautiful Chinese Han nationality females. METHODS: 30 cases of anteroposteriorfemale and lateral star photos were selected from fashion magazines, movies, TV series and 16 external nose indexes from 30 Chinese beautiful females were measured by using photoshop CS 3.0 software. RESULTS AND CONCLUSION: The external nose height, length, width, depth, and the proportion related to aesthetics and anatomical data from stars were obtained, it included: nose wide/nose long=1: 1.15, the nose deep/nose wide=1: 2, the nose wide/ the angular distance=1: 0.94, nose wide/quarrel spacing=1: 1.43, and the ratio was relate with each other. The results shows that the ratio between labial groove spacing with nose width of Chinese beauty female is close to golden ratio 1:0.618, and the external nose relative face is not outstanding.%背景:目前,鼻外型的美学指标尚不统一建立中国美貌汉族女性鼻部特征的数据库,可以为美容整形治疗计划的制定提供理论依据.目的:对公众广泛接受的30例中国美貌汉族女性的鼻部特征进行了测量,观察中国美貌汉族女性鼻部的美学特征.方法:选取30例时尚杂志、电影、电视剧中美女明星的正、侧位脸型的照片,利用photoshop CS 3.0软件对30例中国美貌汉族女性的16个外鼻指标进行测量分析.结果与结论:实验获得明星外鼻的长度、宽度、高度、深度和相关比例等多组美学、解剖学数据,包括:鼻宽-鼻长比为1∶1.15,鼻深-鼻宽比为1∶2,鼻宽-内眦间距比为1∶0.94,鼻宽-口角间距比为1∶1.43,且各比例相互间有一定相关性.结果证实,中国美貌女性鼻唇沟间距与鼻宽之比接近黄金比1∶0.618,外鼻相对面部不够突出.

  4. Consistency of linkage disequilibrium between Chinese and Nordic Holsteins and genomic prediction for Chinese Holsteins using the joint reference population

    OpenAIRE

    Lei ZHOU; Ding, Xiangdong; Zhang, Qin; Wang, Yachun; Lund, Mogens S; Su, Guosheng

    2013-01-01

    Background In China, the reference population of genotyped Holstein cattle is relatively small with to date, 80 bulls and 2091 cows genotyped with the Illumina 54 K chip. Including genotyped Holstein cattle from other countries in the reference population could improve the accuracy of genomic prediction of the Chinese Holstein population. This study investigated the consistency of linkage disequilibrium between adjacent markers between the Chinese and Nordic Holstein populations, and compared...

  5. Correlation analysis between single nucleotide polymorphisms of pulmonary surfactant protein A gene and pulmonary tuberculosis in the Han population in China

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    Hong-yi Yang

    2014-09-01

    Conclusions: SNP in SP-A is associated with PTB in the Han population in China. The G allele at aa91, T allele at aa140, and haplotype 6A11–1A8 are risk factors for PTB, but haplotype CGAAC–1A0 and 6A4–1A12 are protective factors for PTB.

  6. Association of DCDC2 Polymorphisms with Normal Variations in Reading Abilities in a Chinese Population

    Science.gov (United States)

    Song, Shuang; Tardif, Twila; Burmeister, Margit; Villafuerte, Sandra M.; Su, Mengmeng; McBride, Catherine; Shu, Hua

    2016-01-01

    The doublecortin domain-containing 2 (DCDC2) gene, which is located on chromosome 6p22.1, has been widely suggested to be a candidate gene for dyslexia, but its role in typical reading development over time remains to be clarified. In the present study, we explored the role of DCDC2 in contributing to the individual differences in reading development from ages 6 to 11 years by analysing data from 284 unrelated children who were participating in the Chinese Longitudinal Study of Reading Development (CLSRD). The associations of eight single nucleotide polymorphisms (SNPs) in DCDC2 with the latent intercept and slope of children’s reading scores were examined in the first step. There was significant support for an association of rs807724 with the intercept for the reading comprehension measure of reading fluency, and the minor “G” allele was associated with poor reading performance. Next, we further tested the rs807724 SNP in association with the reading ability at each tested time and revealed that, in addition to significant associations with the two main reading measures (reading fluency and Chinese character reading) over multiple testing occasions, this SNP also showed associations with reading-related cognitive skills, including morphological production, orthographic judgment and phonological processing skills (rapid number naming, phoneme deletion, and tone detection). This study provides support for DCDC2 as a risk gene for reading disability and suggests that this gene is also operative for typical reading development in the Han population. PMID:27100778

  7. Association of DCDC2 Polymorphisms with Normal Variations in Reading Abilities in a Chinese Population.

    Science.gov (United States)

    Zhang, Yuping; Li, Jun; Song, Shuang; Tardif, Twila; Burmeister, Margit; Villafuerte, Sandra M; Su, Mengmeng; McBride, Catherine; Shu, Hua

    2016-01-01

    The doublecortin domain-containing 2 (DCDC2) gene, which is located on chromosome 6p22.1, has been widely suggested to be a candidate gene for dyslexia, but its role in typical reading development over time remains to be clarified. In the present study, we explored the role of DCDC2 in contributing to the individual differences in reading development from ages 6 to 11 years by analysing data from 284 unrelated children who were participating in the Chinese Longitudinal Study of Reading Development (CLSRD). The associations of eight single nucleotide polymorphisms (SNPs) in DCDC2 with the latent intercept and slope of children's reading scores were examined in the first step. There was significant support for an association of rs807724 with the intercept for the reading comprehension measure of reading fluency, and the minor "G" allele was associated with poor reading performance. Next, we further tested the rs807724 SNP in association with the reading ability at each tested time and revealed that, in addition to significant associations with the two main reading measures (reading fluency and Chinese character reading) over multiple testing occasions, this SNP also showed associations with reading-related cognitive skills, including morphological production, orthographic judgment and phonological processing skills (rapid number naming, phoneme deletion, and tone detection). This study provides support for DCDC2 as a risk gene for reading disability and suggests that this gene is also operative for typical reading development in the Han population. PMID:27100778

  8. Association of MYLIP rs3757354 SNP and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations

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    Yan Ting-Ting

    2012-10-01

    Full Text Available Abstract Background The association of rs3757354 single nucleotide polymorphism (SNP in the E3 ubiquitin ligase myosin regulatory light chain-interacting protein (MYLIP, also known as IDOL gene and serum lipid levels is not well known in the general population. The present study aimed to detect the association of rs3757354 SNP and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Method A total of 627 subjects of Bai Ku Yao minority and 614 participants of Han nationality were randomly selected from our stratified randomized cluster samples. Genotyping of the rs3757354 SNP was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Results The levels of serum total cholesterol (TC, high-density lipoprotein cholesterol (HDL-C, low-density lipoprotein cholesterol (LDL-C, apolipoprotein (Apo AI and ApoB were lower in Bai Ku Yao than in Han (P P P 0.05; respectively. There were no significant differences in the genotypic and allelic frequencies between males and females in both ethnic groups. The levels of HDL-C in Bai Ku Yao were different among the genotypes (P P P P Conclusions The present study suggests that the MYLIP rs3757354 SNP is associated with serum TC, HDL-C and ApoAI levels in the Bai Ku Yao and Han populations. But the association is different between the two ethnic groups.

  9. Population Pharmacokinetics of Rifampicin in Chinese Patients With Pulmonary Tuberculosis.

    Science.gov (United States)

    Jing, Ying; Zhu, Li Qin; Yang, Jian Wei; Huang, Shu Ping; Wang, Qian; Zhang, Jie

    2016-05-01

    Rifampicin (RIF) induces cytochrome P450, which in turn catalyzes drug metabolism; however, pharmacokinetic studies on this phenomenon in the Chinese population, especially in the context of disease, are limited. Therefore, we sought to establish population-based pharmacokinetic models of RIF in a Chinese population with pulmonary tuberculosis (TB). Clinical data were retrospectively collected from 54 patients with pulmonary TB and analyzed alongside RIF blood levels from 95 samples collected prior to RIF administration and between 2 and 12 hours after treatment. HPLC was used to measure serum RIF concentrations. A nonlinear mixed model used to characterize RIF pharmacokinetics and the data generated from the present study were validated using a bootstrap method. Covariates, including demographics, as well as hematological and biological indicators were analyzed. We observed a 1-compartment model with first-order absorption. Typical population values of apparent clearance (CL/F) and apparent volume of distribution (VD /F) were 4.02 L/h and 57.8 L, respectively. No covariate significantly changed the parameters of CL/F and VD . The present study may serve as a foundation for individualized therapy and offer a basis for pharmacokinetic-pharmacodynamic (PK-PD) analysis. PMID:26387492

  10. Measuring the volume of insula in healthy Chinese adults of the Han nationality on the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To explore the normal range of the insula volume of Chinese adults of the Hah nationality and its relationship with age, which provide morphological data for the construction of database for Chinese Standard Brain. Methods: This is a clinical multi-center study. One thousand Chinese healthy volunteers (age range = 18 to 70) recruited from 16 hospitals were divided into 5 groups, i.e., Group A (age range =18 to 30), B (age range =31 to 40), C (age range =41 to 50), D (age range = 51 to 60), and E (age range = 61 to 70). Each group contained 100 males and 100 females. All of the volunteers were scanned by MR using T1 weighted three-dimensional magnetization prepared rapid acquisition gradient echo sequence. After three dimension data reconstruction, the volumes of bilateral insula were manually measured. The volume of bilateral insula were compared by paired sample t test. The insula volumes were compared between male and female by independent sample t test, and the differences among 5 age groups were compared by one-way ANNOVA. The relationship between the volumes of insula and age, sex or cerebral volume were analyzed using bivariate correlation, respectively. Results: The left and right side volume of insula before standarized were (7764 ± 1165) and (7387 ± 1128) mm3 respectively, after standarized were (8413 ± 1201) and (7871 ± 1140) mm3 respectively. The left insula volume were significant larger than that of fight (t=-10.565, -16.014, P3 for male, and (7393 ± 1022) mm3 and (7050 ± 1038) mm for female. The left and right insula volumes for male were larger than the female's (t=10.934,9.945,P3, female were (8043± 1054) and (7515 ± 1091 ) mm3, the left and right insula volume of male were larger than the female's(t=4.858,4.632,P3 respectively, the right were (8028 ± 1156), (7636 ± 1075), (7294 ± 986) (7249 ± 1068), (6717 ± 916) mm3 respectively, there were significant differences among 5 groups between left and right insula volume (F= -0

  11. Growth Hormone Therapy Benefits Pituitary Stalk Interruption Syndrome Patients with Short Stature: A Retrospective Study of 75 Han Chinese

    Science.gov (United States)

    Wang, Cheng-Zhi; Guo, Ling-Ling; Han, Bai-Yu; Wang, An-Ping; Liu, Hong-Yan; Su, Xing; Guo, Qing-Hua; Mu, Yi-Ming

    2016-01-01

    Objective. We aim to investigate the long-term benefits of growth hormone (GH) therapy in short stature adolescents and adults with pituitary stalk interruption syndrome (PSIS), which would be beneficial for future clinical applications. Design and Methods. In this study, initial height, final height, total height gain, and GH treatment history were retrospectively investigated in 75 Chinese PSIS patients. We compared height gain between the GH treated cohort and untreated cohort and explored the impact of different GH therapy duration on height gain. Results. For GH treated patients, their final height (SDS) increased from −1.99 ± 1.91 (−6.93~2.80) at bone age (BA) of 11.2 (5.0~17.0) years to −1.47 ± 1.64 (−7.82~1.05) at BA of 16.6 (8.0~18.0) years (P = 0.016). And GH treated patients had more height gain than the untreated patients (P < 0.05). There was a significant difference between the different GH therapy duration groups (P = 0.001): GH 0 versus GH 3, P = 0.000; GH 1 versus GH 3, P = 0.028; GH 2 versus GH 3, P = 0.044. Conclusion. Adult Chinese PSIS patients with short stature benefited the most from at least 12 months of GH therapy. Although patient diagnosis age was lagged behind in the developing countries, GH treatment was still effective for them and resulted in a higher final height and more height gain. PMID:27190512

  12. Correlation between single nucleotide polymorphisms of NADPH oxidase p22phox gene and ischemic stroke in Shanghai Han population

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    Wei XU

    2015-09-01

    Full Text Available Objective This paper aims to investigate the distribution of genotypes and alleles of nicotinamide adenine dinucleotide phosphate (NADPH oxidase p22phox -930A/G, 242C/T and -675A/T, so as to evaluate the association between three single-nucleotide polymorphisms (SNPs and risk of atherosclerotic ischemic stroke in permanent resident population of Han nationality living in Shanghai area. Methods The genotypes and allele frequencies of NADPH oxidase p22phox subunit -930A/G, 242C/T and -675A/T were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP analysis in 205 patients with ischemic stroke and 136 healthy controls. Results In patients with ischemic stroke, the results of PCR-RFLP in variant genetic loci were different. For -930A/G, one band appeared at 268 bp of genotype AA; 2 bands appeared at 197 and 71 bp of genotype GG; 3 bands appeared at 268, 197 and 71 bp of genotype AG. For 242C/T, one band appeared at 348 bp of genotype CC; 2 bands appeared at 188 and 160 bp of genotype TT; 3 bands appeared at 348, 188 and 160 bp of genotype CT. For -675A/T, 2 bands appeared at 158 and 54 bp of genotype TT; 3 bands appeared at 212, 158 and 54 bp of genotype AT. The genotypes and allele frequency of all three SNPs of NADPH oxidase p22phox gene had no significant difference between ischemic stroke patients and healthy controls (P > 0.05. Conclusions The genetic polymorphism of NADPH oxidase p22phox gene -930A/G, 242C/T and -675A/T might have no association with ischemic stroke. DOI: 10.3969/j.issn.1672-6731.2015.09.011

  13. Evidence for association of D1S249 locus on human chromosome 1 with the susceptibility to essential hypertension in Han Chinese

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Essential hypertension (EH) is thought to result from theinteraction of environmental and genetic factors. The molecular genetics of EH has witnessed considerable progress during the past few years. However, the number of genes involved, their chromosomal location and the magnitude of their effect on EH susceptibility are unknown. We conducted the present study to screen susceptibility genes to essential hypertension using a genome-wide scanning method in a group of Han people from Fangshan district located in the southwest of Beijing. A case-control study and affected sibpair were performed. Genotyping was carried out using a fluorescence-based semiautomated technique on automated DNA sequencer (ABI 377, PE). The basis for the genome-screen was the ABI prism linkage mapping sets of 400 microsatellite markers (version 2, PE, Co.). PCR for amplification of markers was carried out as multiplex reactions with Ampli Taq gold (PE, Co.) following protocols developed in our laboratory. Data were exported as a text file from genotyper for subsequent two-point affected sibpair linkage analysis. The data from case-control association study showed a linkage disequilibrium between EH and marker D1S249 locus (X2 = 14.6, P = 0.002). There are 12 alleles in the D1S249 locus. The frequency of A9 allele in hypertension was higher than in normotensives, (13.6% v.s. 2.7%, X2 = 6.30, p = 0.01, OR = 4.57, 95%CI = 1.24-25.4). The data from two-point affected sibpair linkage analysis demonstrated a linkage between EH and A9 allele, P<0.05. It suggested that microsatellite marker D1S249 locus might be associated with the genetic susceptibility to essential hypertension in Han Chinese.

  14. Measuring the volume of the fourth ventricle in healthy Chinese adults of the Han nationality on the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To explore the normal range of the fourth ventricle volume of Chinese adults of the Han nationality and provide morphological data for the construction of database for Chinese Standard Brain. Methods: This is a clinical multi-center study. One thousand Chinese healthy volunteers (age range = 18 to 70) recruited from 15 hospitals were divided into 5 groups, i.e., Group A (age range = 18 to 30), B (age range =31 to 40), C (age range =41 to 50), D (age range =51 to 60), and E (age range =61 to 70). Each group contained 100 males and 100 females. All of the volunteers were scanned by MR using T1 weighted three-dimensional magnetization prepared rapid acquisition gradient echo sequence. After three dimension data reconstruction, the volumes of the fourth ventricle were measured at sagittal view by automatic trace of Midobl. 2 combined with manual outlining. The difference of volumes of the fourth ventricle between male and female were analyzed by independent sample t test, and among age groups by ANOVA. Pearson's correlation coefficient was used to characterize the relationship between volumes of the fourth ventricle and age. Results: The fourth ventricle volumes of Group A-E were (2.1 ± 0.9), (2.1 ± 0.8), (2.2 ± 0.8), (2.1 ± 1.0) and (2.4 ± 0.8) ml respectively for male; those for female were (2.0 ± 0.7), (1.9 ± 0.6), (18 ± 0.6), (1.9 ± 0.7) and (2.0 ± 0.6) ml respectively. The fourth ventricle volumes of males were significantly larger than those of females (t=5.573, P=0.000); there were no significant differences among the female groups (F=1.788, P=0.130); there were significant differences among the male groups (F=2.639, P=0.033) and multiple comparison found that the 60 years old was the watershed with significant difference (P<0.05). Correlation between the change of males' volumes and the ages was not strong (r=0.119, P=0.008), and the females' volumes did not correlated with their ages (r=0.041,P=0.360). Conclusion: There are gender

  15. Linkage of three polymorphisms on chromosome 20p12 to ossification of the posterior longitudinal ligament of spine and its severity in Han Chinese patients

    Institute of Scientific and Technical Information of China (English)

    YAN Liang; ZHAO Wei-guang; LI Jin-jun; YANG Hui; WANG Hao; LIN Xin

    2010-01-01

    Background Ossification of the posterior longitudinal ligament (OPLL) is characterized by the replacement of ligamentous tissue with new ectopic bone formation, and has a strong genetic background. Because of the abnormal bone metabolic features and the strong genetic component, osteoporosis is a related disorder with OPLL. Three polymorphisms on chromosome 20p12 were identified associated with the risk of osteoporosis and osteoporotic fracture.The rs996544 (C/T) "TT" and rs965291 (G/A) "AA" genotypes conferred higher risks for vertebral and hip fractures. The osteoporosis haplotype is defined by two polymorphisms, rs1116867 (A) and D35548 (T). However, it remains unknown whether these three polymorphisms predispose to an increased frequency and severity of OPLL in Han Chinese patients.Methods A total of 420 OPLL patients and 506 age- and sex-matched controls were studied. Three single nucleotide polymorphisms (SNPs), rs996544 (C/T), rs965291 (G/A) and rs1116867 (A/G), were analyzed by direct sequencing.Associations between these SNPs with the occurrence and extent of OPLL were statistically evaluated.Results There was no significant association between the rs996544 (C/T) polymorphism and the prevalence of OPLL.The rs1116867 (A/G) polymorphism "AG" genotype was associated with the occurrence of OPLL. The rs1116867 (A/G) polymorphism "G" allele was associated with the occurrence of OPLL, but not with the extent of OPLL. The rs965291 (G/A) polymorphism in female patients was statistically different between cases and controls (P <0.05). The rs965291 (G/A) polymorphism "A" allele was associated with the occurrence of OPLL in female patients. For the rs965291 (G/A)polymorphism, patients with the "A" allele (genotype, "AG" or "AA") showed a significantly greater number of ossified cervical vertebrae than those without the "A" allele (genotype, "GG", P <0.05), particularly in female patients.Conclusions The rs1116867 (A/G) and rs965291 (G/A) polymorphisms on

  16. Evaluation of regulatory genetic variants in POU5F1 and risk of congenital heart disease in Han Chinese

    Science.gov (United States)

    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.

  17. Hans Meyer

    Czech Academy of Sciences Publication Activity Database

    Jindra, Jiří

    Červený Kostelec : Pavel Mervart, 2013 - (Šimůnek, M.; Kostlán, A.), s. 149-153 ISBN 978-80-7465-041-3. - (Studies in the History of Sciences and Humanities. 29) Institutional support: RVO:68378114 Keywords : Hans Meyer * history of science * scholars Subject RIV: AB - History

  18. Allele and haplotype diversity of new multiplex of 19 ChrX-STR loci in Han population from Guanzhong region (China).

    Science.gov (United States)

    Zhang, Yu-Dang; Shen, Chun-Mei; Meng, Hao-Tian; Guo, Yu-Xin; Dong, Qian; Yang, Guang; Yan, Jiang-Wei; Liu, Yao-Shun; Mei, Ting; Huang, Rui-Zhe; Zhu, Bo-Feng

    2016-07-01

    X-chromosomal short tandem repeats (X-STRs) have been proved to be useful for some deficiency paternity cases in recent years. Here, we studied the genetic polymorphisms of 19 X-STR loci (DXS10148-DXS10135-DXS8378, DXS10159-DXS10162-DXS10164, DXS7132-DXS10079-DXS10074-DXS10075, DXS6809-DXS6789, DXS7424-DXS101, DXS10103-HPRTB-DXS10101 and DXS7423-DXS10134) in 252 male and 222 female individuals from Guanzhong Han population, China. No deviation for all 19 loci was observed from the Hardy-Weinberg equilibrium. The polymorphism information content values of the panel of 19 loci were more than 0.5 with the exception of the locus DXS7423. The combined power of discrimination were 0.9999999999999999999994340 in females and 0.9999999999997662 in males, respectively; and the combined mean exclusion chances were 0.999999993764 in duos and 0.999999999997444 in trios, respectively. The haplotype diversities for all the seven clusters of linked loci were more than 0.9. The results showed that the panel of 19 X-STR loci were powerful for forensic applications in Guanzhong Han population. Locus by locus population comparisons showed significant differences at more than seven loci between Guanzhong Han population and the groups from North America, Europe and Africa. PMID:27063464

  19. Polymorphic Analysis of 5 Y-SNP Loci in Han Population of Jinan%济南汉族群体5个Y-SNP位点的多态性分析

    Institute of Scientific and Technical Information of China (English)

    韩淑毅; 高洪梅; 张茂修; 郑燕; 郏雁飞; 丁卜同; 汪运山

    2011-01-01

    Objective To investigate polymorphism distribution of the 5 Y-SNP loci in Jinan Han popula tion, and evaluate their potential in forensic application. Methods Genotyping of 5 Y-SNP loci (M89, M9, M122, M134, M95) were executed in the sample of 103 unrelated Chinese male individuals in Jinan Han population by using fragment length discrepant allele specific PCR (FLDAS-PCR). Results In 5 Y-SNP loci, genetic polymorphism were identified in Jinan Han population, and the ranges of gene diversity (GD) were 0.093 3-0.491 2. Twenty different haplotypes were observed and the haplotypes diversity (HD) was 0.867 9. Six different haplogroups were detected according to international association of Y chromosome nomenclature. Conclusion Five Y-SNP loci and their haplogroups in Jinan Han population are highly polymorphic, which can provide more information for the genetic structure analysis and forensic genetics research in the region.%目的 探讨济南汉族群体5个Y-SNP位点的多态性并评价其在法医学中的应用.方法 采用片段长度差异等位基因特异性PCR(fragment length difference allele specific PCR,FLDAS-PCR)对济南汉族群体共103名男性无关个体5个Y-SNP标记(M89、M9、M122、M134、M95)进行分型研究.结果 5个Y-SNP位点在济南汉族群体中均呈多态性分布,基因多样性(GD)为0.093 3~0.491 2,共检测到20种单倍型(HD为0.8679),根据国际Y染色体协会命名原则,共有6种单倍群.结论 5个Y-SNP位点及其单倍型在济南汉族具有较好的多态性分布,为该地区人群遗传结构的分析及法医遗传学研究提供了较多的信息量.

  20. Risk factors for primary liver carcinoma in Chinese population

    Institute of Scientific and Technical Information of China (English)

    Rui-Hong Luo; Zhi-Xin Zhao; Xu-Yu Zhou; Zhi-Liang Gao; Ji-Lu Yao

    2005-01-01

    AIM: To evaluate the risk factors for primary liver carcinoma (PLC) in Chinese population.METHODS: Chinese Biomedical Literature Database,China Hospital Knowledge Database and MEDLINE were searched. All the related literatures were screened, and the risk factors for PLC in Chinese population were studied.Heterogeneity was evaluated by odds ratio (OR) q test.Combined OR and its 95% confidence interval (95%CI)were calculated, the association between the investigated risk factors and PLC was determined. Validity and bias of the findings were evaluated by sensitivity analysis and funnel plot analysis respectively.RESULTS: Fifty-five of one hundred and ninety identified studies were accepted according to the inclusive criteria.Ten factors related to PLC were demonstrated by sensitive analysis and funnel plot analysis. They were cirrhosis (OR = 11.97, P= 0.000), HBV infection (OR = 11.34, P= 0.000),HCV infection (OR = 4.28, P = 0.000), family history of liver cancer (OR = 3.49, P = 0.000), unstable emotion (OR = 2.20, P = 0.000), depressed characters (OR = 3.07,P = 0.000), aflatoxin (OR = 1.80, P = 0.000), alcoholic (OR = 1.88, P = 0.000), intake of musty food (OR = 1.87,P = 0.000) and drinking contaminated water from pond (OR = 1.77, P= 0.003).CONCLUSION: The main risk factors for PLC in China are liver diseases, family history of liver carcinoma, poor psychic status, afiatoxin, and some unhealthy behaviors.

  1. Association of immunophenotypic characterization of peripheral lymphocytes with different clinical phenotypes of tuberculosis in Chinese Han children

    Institute of Scientific and Technical Information of China (English)

    XIAO Jing; SHEN A-dong; SUN Lin; WU Xi-rong; MIAO Qing; JIAO Wei-wei; SHEN Chen; SHEN Dan; FENG Wei-xing; LIU Fang

    2012-01-01

    Background Very few researchers have studied the changes in peripheral lymphocyte patterns in adult tuberculosis (TB) and even less researches have been conducted in pediatric TB.In this study,we obtained blood samples from 114 Chinese pediatric TB patients and 116 matched controls to study the association of phenotypic subsets of peripheral lymphocytes with different clinical phenotypes of TB.Methods The subjects were classified as the control group and the TB patients group which were further divided into a pulmonary TB group and an extra-pulmonary TB group (more serious than the former).The distribution of lymphocyte subpopulations,including T lymphocytes,CD4+ T lymphocytes,CD8+ T lymphocytes,B lymphocytes,and natural killer (NK) cells,were quantitatively analyzed by flow cytometry.Results Compared to the healthy controls,TB infection was associated with significantly higher B cell (P <0.0001),and lower T cell (P=0.029) and NK cell (P <0.0001) percentages.Compared to pulmonary TB patients,extra-pulmonary TB was associated with relatively higher B cell (P=0.073),and lower T cell percentages (P=-0.021),higher purified protein derivative (PPD) negative rate (P=-0.061),and poorer PPD response (P=-0.010).Most pulmonary TB cases were primary pulmonary TB (89.1%),and most extra-pulmonary TB cases had TB meningitis (72.1%).Conclusions This study demonstrates changes in the lymhocyte distribution in children suffering from different clinical phenotypes of TB; such as primary pulmonary TB,and TB meningitis.These patterns may have significance in understanding the pathogenesis and prognostic markers of the disease,and for developing immunomodulatory modalities of therapy.

  2. Interactions Between Effects of Estrogen Receptor Gene Polymorphisms on BMD and Experiences of the First Spermorrhea in Chinese Han Boys

    Institute of Scientific and Technical Information of China (English)

    JING YIN; QIAN ZHANG; XIAO-QI HU; WEI-JING DU; AI-LING LIU; XIAO-YAN WANG; ZHI-QIN TONG; GUAN-SHENG MA

    2008-01-01

    Objective To study the interaction between polymorphisms of estrogen receptor(ER)gene and puberty on bone mineral density(BMD).Methods One hundred and forty-six boys aGEd 13-17 years were divided into two groups according to their first spermorrhea.DNA wag analyzed for Xba I and Pvu Ⅱ genotypes by PCR-RFLE BMD of the total body,forearm and lumbar spine was measured by dual-energy X-ray absorptiome TRY(DXA).The relationship between polymorphisms of ER gene and BMD in these two groups was analyzed. Results The BMD at all sites in the spermorrhea group was significantly higher than that in the un-spermorrhea group.The independent contribution of ER genotypes to BMD at two pubertal stages was analyzed after adjusting co-variables.In the un-spermorrhea group,the BMD at distal 1/10 and 1/3 forearm of those carrying PP genotype was significantly higher than that of the non-carries,whereas in the spermorrhea group BMD in those carrying the same genotype was significantly lower than that in the non-carriers.Similar results were obtained by haplotype analysis.Multiple stepwise regression analysis showed that body weight,age and the first spermorrehea were the dominant determinants for BMD.BMD at forearm might be influenced by interaction between ER genotype and the first spermorrehea.Conclusion The polymorphisms of ER gene play a different role in BMD influenced by the first spermorrhea.Chinese boys carrying Porx allele should pay more attention to their bone mass.

  3. Human embryonic stem cell lines derived from the Chinese population

    Institute of Scientific and Technical Information of China (English)

    Zhen Fu FANG; Fan JIN; Hui GAI; Ying CHEN; Li WU; Ai Lian LIU; Bin CHEN; Hui Zhen SHENG

    2005-01-01

    Six human embryonic stem cell lines were established from surplus blastocysts. The cell lines expressed alkaline phosphatase and molecules typical of primate embryonic stem cells, including Oct-4, Nanog, TDGF1, Sox2, EBAF,Thy-1, FGF4, Rex-1, SSEA-3, SSEA-4, TRA-1-60 and TRA-1-81. Five of the six lines formed embryoid bodies that expressed markers of a variety of cell types; four of them formed teratomas with tissue types representative of all three embryonic germ layers. These human embryonic stem cells are capable of producing clones of undifferentiated morphology, and one of them was propagated to become a subline. Human embryonic stem cell lines from the Chinese population should facilitate stem cell research and may be valuable in studies of population genetics and ecology.

  4. Genetic Polymorphisms of TGFB1, TGFBR1, SNAI1 and TWIST1 Are Associated with Endometrial Cancer Susceptibility in Chinese Han Women

    Science.gov (United States)

    Yang, Li; Wang, Ya-Jun; Zheng, Li-Yuan; Jia, Yu-Mian; Chen, Yi-Lin; Chen, Lan; Liu, Dong-Ge; Li, Xiang-Hong; Guo, Hong-Yan; Sun, Ying-Li; Tian, Xin-Xia; Fang, Wei-Gang

    2016-01-01

    Endometrial cancer (EC) is a complex disease involving multiple gene-gene and gene–environment interactions. TGF-β signaling plays pivotal roles in EC development. This study aimed to investigate whether the genetic polymorphisms of TGF-β signaling related genes TGFB1, TGFBR1, SNAI1 and TWIST1 contribute to EC susceptibility. Using the TaqMan Genotyping Assay, 19 tagging-SNPs of these four genes were genotyped in 516 EC cases and 707 controls among Chinese Han women. Logistic regression (LR) showed that the genetic variants of TGFB1 rs1800469, TGFBR1 rs6478974 and rs10733710, TWIST1 rs4721745 were associated with decreased EC risk, and these four loci showed a dose-dependent effect (Ptrend pregnancy intervals (˃11 years) and BMI˂24 (aOR = 0.39, 95% CI = 0.17–0.90, P = 0.0275). These results suggest that polymorphisms in TGFB1, TGFBR1, SNAI1 and TWIST1 may modulate EC susceptibility, both separately and corporately. PMID:27171242

  5. Genetic Variants of Retinoic Acid Receptor-Related Orphan Receptor Alpha Determine Susceptibility to Type 2 Diabetes Mellitus in Han Chinese

    Science.gov (United States)

    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

  6. Genetic Variants of Retinoic Acid Receptor-Related Orphan Receptor Alpha Determine Susceptibility to Type 2 Diabetes Mellitus in Han Chinese.

    Science.gov (United States)

    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

  7. Mitochondrial DNA copy number, but not haplogroup, confers a genetic susceptibility to leprosy in Han Chinese from Southwest China.

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    Dong Wang

    Full Text Available BACKGROUND: Leprosy is a chronic infectious disease caused by Mycobacterium leprae, an unculturable pathogen with an exceptionally eroded genome. The high level of inactivation of gene function in M. leprae, including many genes in its metabolic pathways, has led to a dependence on host energy production and nutritional products. We hypothesized that host cellular powerhouse--the mitochondria--may affect host susceptibility to M. leprae and the onset of clinical leprosy, and this may be reflected by mitochondrial DNA (mtDNA background and mtDNA copy number. METHODS: We analyzed the mtDNA sequence variation of 534 leprosy patients and 850 matched controls from Yunnan Province and classified each subject by haplogroup. mtDNA copy number, taken to be proportional to mtDNA content, was measured in a subset of these subjects (296 patients and 231 controls and 12 leprosy patients upon diagnosis. RESULTS: Comparison of matrilineal components of the case and control populations revealed no significant difference. However, measurement of mtDNA copy number showed that lepromatous leprosy patients had a significantly higher mtDNA content than controls (P = 0.008. Past medical treatments had no effect on the alteration of mtDNA copy number. CONCLUSIONS: Our results suggested that mtDNA content, but not haplogroup, affects leprosy and this influence is limited to the clinical subtype of lepromatous leprosy.

  8. Mitochondrial DNA hypervariable region 1 polymorphism in Singapore Chinese population.

    Science.gov (United States)

    Shee, Cheng-Yap; Chong, Michelle S M; Ng, Irene; Chia, Tet-Fatt

    2005-03-01

    Sequence polymorphisms of hypervariable region 1 were analyzed in 100 unrelated Singaporean Chinese. Ninety-five different haplotypes resulting from 113 variable sites were found between nucleotide positions 16045 and 16364. Single nucleotide polymorphism at nucleotide positions 16223, 16045, 16129, 16362 and 16189 was amongst the five highest frequencies observed in the sequences, whilst the most frequent haplotype was 16045-16223. Based on polymorphic sites observed at HV1, haplogroups A, F1a, M7b1, B5a and D4b were the most commonly observed clusters. The haplotype, nucleotide diversity and the average number of nucleotide differences were found to be 0.999, 0.028 and 9.082, respectively. The cytosine-stretch region located around nucleotide position 16189 was observed in 22% of this population sample. Transitions were found to be more predominant than transversions. PMID:15708338

  9. Association of UBASH3A gene polymorphisms and systemic lupus erythematosus in a Chinese population.

    Science.gov (United States)

    Liu, Jie; Liu, Juan; Ni, Jing; Leng, Rui Xue; Pan, Hai Feng; Ye, Dong Qing

    2015-07-01

    Recent evidence has demonstrated that UBASH3A gene was associated with multiple autoimmune diseases. The aim of this study was to explore the association between UBASH3A gene single-nucleotide polymorphisms (SNPs) and systemic lupus erythematosus (SLE) in a Chinese Han population. Four UBASH3A polymorphisms (rs11203203, rs3788013, rs2277798, and rs1893592) were genotyped using the Fluidigm 192.24 Dynamic Array™ Integrated Fluidic Circuit (IFC). Data were analyzed by SPSS 11.5 software. A total of 792 SLE patients and 777 healthy controls were included in this study. The CC genotype and C allele of rs3788013 polymorphism were more frequent in the patient group than in controls (OR=1.583, 95% CI=1.095-2.287; OR=1.258, 95% CI=1.083-1.461, respectively). We also found a statistical significance under the recessive model (OR=1.298, 95% CI=1.049-1.607, p=0.017). The frequency of variant genotype AC of rs3788013 was associated with the phenotype of vasculitis (p=0.012). A statistically significant association was observed between UBASH3A rs1893592 C allele and skin rash, oral ulcer and arthritis (p0.05). The findings suggest that UBASH3A gene might contribute to SLE susceptibility and influence the clinical phenotype of the disease. Further studies are necessary to elucidate the exact role of UBASH3A gene in the pathogenesis of SLE. PMID:25843625

  10. Association Between Osteopontin Gene Polymorphisms and Cerebral Palsy in a Chinese Population.

    Science.gov (United States)

    Shang, Qing; Zhou, Chongchen; Liu, Dongzhi; Li, Wenxia; Chen, Mingjie; Xu, Yiran; Wang, Fei; Bi, Dan; Zhang, Xiaoli; Zhao, Xinzhi; Wang, Lei; Zhu, Changlian; Xing, Qinghe

    2016-06-01

    Cerebral palsy (CP) is a neurological disorder affecting movement and posture that develops as a complication of prenatal, perinatal, and postnatal brain injury. Such non-progressive brain injury is often accompanied by neonatal encephalopathy and inflammation. The widely expressed soluble cytokine osteopontin (OPN) plays an important role in inflammation and neurological protection. Therefore, it is of great interest to study the relationship between CP and genetic variants of OPN. To explore the genetic association between OPN gene single nucleotide polymorphisms (SNPs) and CP in the Chinese Han population, five SNPs (rs2853744, rs2853749, rs11728697, rs4754, and rs1126616) were genotyped among 715 CP patients and 658 healthy controls using the MassArray platform. Statistical analysis was performed using the online SHEsis program, and Bonferroni correction was applied as necessary. We found an association between rs1126616 and global CP (corrected allelic P = 0.0006 and genotypic P = 0.0011 after Bonferroni correction). The other SNPs were not statistically associated with CP or any of its subgroups. By testing a relatively large sample size, our study demonstrates that the OPN gene SNP rs1126616 is statistically associated with CP. We suspect that the OPN gene might be a susceptibility factor for CP. PMID:27114095

  11. Retrospective Study to Determine Diagnostic Utility of 6 Commonly Used Lung Cancer Biomarkers Among Han and Uygur Population in Xinjiang Uygur Autonomous Region of People's Republic of China.

    Science.gov (United States)

    Yang-Chun, Feng; Min, Feng; Di, Zhang; Yan-Chun, Huang

    2016-05-01

    Early diagnosis was the main way to improve the survival rate of lung cancer patients. At present, the methods to diagnose lung cancer were varied, but early diagnosis of lung cancer was still difficult. In experimental and clinical studies, lung cancer related tumor markers were helpful to the early diagnosis of lung cancer. So far, there were many studies about lung cancer related tumor markers in China, but the subjects in these studies were almost the Han population. There were few studies about the Uygur population. Xinjiang was a multi-ethnic region in China, the ratios of Han and Uygur population were 40% and 45%, respectively. Xinjiang also was a high incidence area of lung cancer in China. The purpose of this study was to research the application of 6 tumor markers in Uygur and Han lung cancer patients in XinJiang, China.The study collected 342 cases who were diagnosed as lung cancer in Tumor Hospital Affiliated to XinJiang Medical University from May 2012 to December 2012. Serum concentrations of squamous cell carcinoma (SCC), cytokeratin fragment 19 (CYFRA21-1), carcino-embryonic antigen (CEA), carbohydrate antigen 125 (CA125), precursor of gastrin-releasing peptide (Pro-GRP), and neuron-specific enolase (NSE) were tested for every patient before radiation, chemotherapy, or surgery. The serum concentrations of SCC, CYFRA21-1, CEA, CA125, and Pro-GRP were assayed using the micro-particle luminescence analysis testing by the Abbott ARHCITECT i2000SR immunoanalyzer. NSE was assayed by the electrochemical luminescence analysis testing using Roche Cobas E601 electrochemical luminescence analyzer.Serum levels of SCC were different between 2 ethnic populations, smoking should be the influence factor to create the difference. Cluster analysis showed that the NSE and Pro-GRP were helpful to identify small cell lung cancer (SCLC), and CEA, CA125, SCC, CYFRA21-1 were beneficial to diagnose non-small cell lung cancer (NSCLC). The compare of diagnosis value about

  12. Risk-Association of CYP11A1 Polymorphisms and Breast Cancer Among Han Chinese Women in Southern China

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    Minying Sun

    2012-04-01

    Full Text Available Exposure to endogenous sex hormones has been reported as a risk factor for breast cancer. The CYP11A1 gene encodes the key enzyme that catalyzes the initial and rate-limiting step in steroid hormone synthesis. In this study, the associations between single nucleotide polymorphisms (SNPs in CYP11A1 and breast cancer susceptibility were examined. Six SNPs in CYP11A1 were genotyped using the MassARRAY IPLEX platform in 530 breast cancer patients and 546 healthy controls. Association analyses based on a χ2 test and binary logistic regression were performed to determine the odds ratio (OR and 95% confidence interval (95% CI for each SNP. Two loci (rs2959008 and rs2279357 showed evidence of associations with breast cancer risk. The variant genotype C/T-C/C of rs2959008 was significantly associated with a decreased risk (age-adjusted OR, 0.75; 95% CI, 0.58–0.96; P = 0.023 compared with the wild-type TT. However, the homozygous TT variant of rs2279357 exhibited increased susceptibility to breast cancer (age-adjusted OR, 1.44; 95% CI, 1.05–1.98; P = 0.022. The locus rs2959003 also showed an appreciable effect, but no associations were observed for three other SNPs. Our results suggest that polymorphisms of CYP11A1 are related to breast cancer susceptibility in Han Chinese women of South China.

  13. Risk factors for intracranial aneurysm in a Chinese ethnic population

    Institute of Scientific and Technical Information of China (English)

    GU Yu-xiang; CHEN Xian-cheng; SONG Dong-lei; LENG Bing; ZHAO Fan

    2006-01-01

    Background Intracranial aneurysm (IAN) is a protruding bubble or a sac on a brain artery that balloons out over time, which may lead to spontaneous subarachnoid hemorrhage (SAH), ultimately disability and mortality.Current research indicates that the disease is due to multiple causes, including environmental factors and various congenital abnormalities of blood vessels. Apart from congenital predisposition, various high-risk factors such as sex, age, hypertension, and atherosclerosis are involved in the formation of intracranial aneurysms. The aim of this study was to investigate the risk factors associated with the formation of sporadic intracranial aneurysms in Chinese Han ethnic patients.Methods A total of 251 patients with intracranial aneurysm and 338 patients with other cerebral diseases (control group) were enrolled in this study. Single factor and logistic regression model were used to analyze the association of intracranial aneurysms with age; sex; cigarette smoking; alcohol or cocaine consumption; history of hypertension, coronary artery disease, diabetes mellitus and inherited connective tissue disease; and the levels of fasting blood glucose and blood fat. The data expressed as mean ± standard deviation were processed with the statistical software SPSS13. Quantitative and qualitative data were analyzed by the independent-sample t test,and the chi-square test respectively. Logistic regression method was used to analyze the multiple factors.Results In the 251 patients, 163 (64.94%) were at age of 40 to 60 years. Sex (OR, 1.41; 95% CI, 1.01-1.96), cigarette smoking (OR, 1.81; 95% CI, 1.06-3.10), hypertension (OR, 2.32; 95% CI, 1.30-4.16) and fasting blood glucose were significantly associated with intracranial aneurysm (P<0.05). Intracranial aneurysm was correlated with alcohol consumption, coronary artery disease, and the level of blood lipids (P>0.05). Using logistic regression analysis, we identified female sex and advanced age as significant risk

  14. Population genetics for 17 Y-STR loci(AmpFISTR®Y-filerTM) in Luzhou Han ethnic group.

    Science.gov (United States)

    Bing, Long; Liang, Weibo; Pi, Jianhua; Zhang, Deming; Yong, Dai; Luo, Haibo; Zhang, Lushun; Lin, Zhang

    2013-02-01

    In this study, 17 Y-STR loci(AmpFISTR(®)Y-filerTM)-DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y-GATA H4, DYS437, DYS438, DYS448 were analyzed in 424 unrelated males from Luzhou Han ethnic group, Southwest China. 365 haplotypes were observed. The discrimination capacity was 0.8608 and the haplotype diversity was 0.9992. PMID:23298877

  15. Warfarin dosage response related pharmacogenetics in Chinese population.

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    Siyue Li

    Full Text Available OBJECTIVES: As the most frequently prescribed anticoagulant, warfarin has large inter-individual variability in dosage. Genetic polymorphisms could largely explain the differences in dosage requirement. rs9923231 (VKORC1, rs7294 (VKORC1, rs1057910 (CYP2C9, rs2108622 (CYP4F2, and rs699664 (GGCX involved in the warfarin action mechanism and the circulatory vitamin K were selected to investigate their polymorphism characteristics and their effects on the pharmacodynamics and pharmacokinetics of warfarin in Chinese population. METHODS: 220 patients with cardiac valve replacement were recruited. International normalized ratio and plasma warfarin concentrations were determined. The five genetic polymorphisms were genotyping by pyro-sequencing. The relationships of maintenance dose, plasma warfarin concentration and INR were assessed among groups categorized by genotypes. RESULTS: rs9923231 and rs7294 in VKORC1 had the analogous genotype frequencies (D': 0.969. 158 of 220 recruited individuals had the target INR (1.5-2.5. Patients with AA of rs9923231 and CC of rs7294 required a significantly lower maintenance dose and plasma concentration than those with AG and TC, respectively. The mean weekly maintenance dose was also significantly lower in CYP2C9 rs1057910 mutated heterozygote than in patients with the wild homozygote. Eliminating the influence from environment factors (age, body weight and gender, rs9923231 and rs1057910 could explain about 32.0% of the variability in warfarin maintenance dose; rs7294 could explain 26.7% of the variability in plasma concentration. For patients with allele G of rs9923231 and allele T of rs7294, higher plasma concentration was needed to achieve the similar goal INR. CONCLUSIONS: A better understanding of the genetic variants in individuals can be the foundation of warfarin dosing algorithm and facilitate the reasonable and effective use of warfarin in Chinese.

  16. TLR4 rs1927911, but Not TLR2 rs5743708, Is Associated With Atherosclerotic Cerebral Infarction in the Southern Han Population

    OpenAIRE

    Song, Yanmin; Liu, Huarong; Long, Lili; Zhang, Ning; Liu, Yunhai

    2015-01-01

    Abstract The objective of this study was to explore the association of toll-like receptor (TLR) 4 rs1927911 and TLR2 rs5743708 with atherosclerotic cerebral infarction (ACI) and their effects on blood pressure, fasting blood glucose, and blood lipids in the Han population of Hunan Province. TLR4 rs1927911 and TLR2 rs5743708 were detected by polymerase chain reaction and restriction fragment length polymorphism in 170 patients with ACI and 149 healthy controls. Our results indicated that the g...

  17. Vitamin D level and vitamin D receptor genetic variations contribute to HCV infection susceptibility and chronicity in a Chinese population.

    Science.gov (United States)

    Wu, Mengping; Yue, Ming; Huang, Peng; Zhang, Yun; Xie, Chaonan; Yu, Rongbin; Li, Jun; Wang, Jie

    2016-07-01

    Vitamin D and vitamin D receptor (VDR) are involved in multiple immune-mediated disorders including chronic hepatitis C virus (HCV) infection. The aim of this study was to determine the association between plasma vitamin D level, VDR genetic polymorphisms and risk of HCV infection susceptibility and chronicity. Seven single nucleotide polymorphisms (SNPs) in VDR gene were genotyped and plasma 25-hydroxyvitamin D [25(OH)D] levels were measured in a Han Chinese population of 898 HCV persistent infection cases, 558 spontaneous clearance subjects and 1136 uninfected controls with high risk of HCV infection. In this case-control study, the average plasma 25(OH)D level in persistent infection patients was significantly lower than that in spontaneous clearance cases (P=0.039) and controls (P=0.005). Logistic analyses indicated that rs7975232-C, rs2239185-T and rs11574129-T alleles were significantly associated with a decreased risk of HCV infection susceptibility (all PBonferroniVDR variants (rs7975232-C, rs2239185-T and rs11574129-T) might contribute to a decreased susceptibility to HCV infection in a high-risk Chinese population. PMID:27063396

  18. Genetic diversity among Chinese sika deer (Cervus nippon) populations and relationships between Chinese and Japanese sika deer

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Sika deer (Cervus nippon) is a cervid endemic to mainland and insular Asia and endangered. We analyzed variation in the mitochondrial DNA (mtDNA) control region for four subspecies to understand the genetic diversity, population structure and evolutionary history in China. 335 bp were sequenced and eight haplotypes were identified based on 25 variable sites among the populations. Sika deer in China showed lower genetic diversity, suggesting a small effective population size due to habitat fragmentation, a low number of founder individuals, or the narrow breeding program. AMOVA analysis indicated that there was significant genetic subdivision among the four populations, but no correlation between the genetic and geographic distance. Phylogenetic analyses also revealed that Chinese sika deer may be divided into three genetic clades, but the genetic structure among Chinese populations was inconsistent with subspecies designations and present geographic distribution. Including the sequence data of Japanese sika deer, the results indicated that Chinese populations were more closely related to Southern Japanese populations than to the Northern Japanese one, and the Taiwan population was closer to populations of Northeastern China and Sichuan than to those of Southern China.

  19. 西藏藏族人群中细小病毒B19基因与内地汉族人群的差异%Different human parvovirus B19 subgroup circulation in Tibet and Han population in China

    Institute of Scientific and Technical Information of China (English)

    朱娜; 佟瑞; 周为民; 谭心怡; 楼永良; 谭文杰

    2015-01-01

    目的 分析人细小病毒B19及人细小病毒4(PARV4)在西藏藏族人群中与内地汉族人群中的基因特点.方法 采用建立的B19与PARV4 PCR筛查方法,分别从西藏藏族人群中与内地汉族人群血液标本中获得人细小病毒B19及PARV4的部分基因片段,经纯化、测序后,进行基因进化树分析.结果 共获得10个B19 VP1基因片段序列(西藏,2个;四川,3个;浙江,5个);10个PAV4ORF1基因片段序列(西藏,2个;四川,2个;云南,1个;浙江,5个);西藏藏族人群中细小病毒B19基因与内地汉族人群同属基因1A亚型,但为不同进化分支;而西藏藏族与内地汉族人群PAV4基因属同一分支.结论 细小病毒B19基因在西藏藏族与内地汉族人群中的差异分析为该病的检测与控制提供了参考.%Objective To investigate the genetic diversity differences of human parvoviruse B19 and parvovirus 4 (PRVA4) in Tibet and Han population in China.Methods Phylogenetic analysis was performed on genome fragments of B19 or PARV4 obtained from the blood samples of Tibet and Han population in China by using a PCR followed by sequencing.Results Ten partial VP1 fragments of B19 (2 from Tibet,3 from Sichuan,5 from Zhejiang) and 10 partial ORF1 fragments of PAV4 (2 from Tibet,2 from Sichuan,1 Yunnan,5 from Zhejiang) were obtained.Phylogenetic analysis indicated that different B19 subgroup circulates in Tibet and Han population although they belong to the same 1A subtype.While the gene evolution of PAV4 is very conserved between the Tibet and Han population in China.Conclusion These studies on genetic diversity of B19 in different Chinese population provide a way for detection and prevention of B19 human parvovirus infection.

  20. Distinct role of the Fas rs1800682 and FasL rs763110 polymorphisms in determining the risk of breast cancer among Han Chinese women

    Directory of Open Access Journals (Sweden)

    Wang M

    2016-07-01

    Full Text Available Meng Wang,1,* Zheng Wang,2,* Xi-Jing Wang,1 Tian-Bo Jin,3 Zhi-Ming Dai,4 Hua-Feng Kang,1 Hai-Tao Guan,1 Xiao-Bin Ma,1 Xing-Han Liu,1 Zhi-Jun Dai1 1Department of Oncology, Second Affiliated Hospital of Xi’an Jiaotong University, 2Department of Medical Oncology, Xi’an Central Hospital, 3National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University, 4Department of Anesthesia, Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an, People’s Republic of China *These authors contributed equally to this work Background: In recent years, studies have demonstrated that polymorphisms in the promoters of Fas and FasL are significantly associated with breast cancer risk. However, the results of these studies were inconsistent. This case–control study was performed to explore the associations between Fas rs1800682 and FasL rs763110 polymorphisms and breast cancer. Materials and methods: A hospital-based case–control study of 560 Han Chinese females with breast cancer (583 controls was conducted. The MassARRAY system was used to search for a possible association between the disease risk and the two single nucleotide polymorphisms, Fas rs1800682 and FasL rs763110. Statistical analyses were performed using SNPStats software to conduct Pearson’s chi-square tests in five different genetic models. Odds ratios (ORs and 95% confidence intervals (CIs were calculated after adjustment to age and body mass index. PHASE v2.1 software was used to reconstruct all common haplotypes.Results: A statistically significant association was found between Fas rs1800682 and increased breast cancer risk (AG vs AA: OR =1.37, 95% CI =1.06–1.78; AA+AG vs GG: OR =1.32, 95% CI =1.04–1.66, and also it was found that the FasL rs763110 polymorphism may decrease the risk. Stratified analyses demonstrated that the rs763110 polymorphism was associated with lower breast cancer risk among postmenopausal females

  1. Postoperative comparison of result of renal transplantation between ethnic minorities and Han recipients after receiving kidneys from Han donors

    Directory of Open Access Journals (Sweden)

    Han-wen CUI

    2013-04-01

    Full Text Available Objective  To analyze the outcomes and postoperative complications of renal transplant recipients of ethnic minorities and Han population in China, and investigate the differences between them. Methods  Clinical data from 89 minorit y patients and 100 Han patients who had received renal transplant of Hans' donators in Organ Transplantation Center of PLA from 1990 to 2012 were retrospectively analyzed. The general data before transplantation, and rate of short-term survival of the graft, incidence of delayed graft function (DGF, acute rejection, and pulmonary infection after transplantation were analyzed and compared. Results  No statistical difference was found in the preoperative personal profile between the recipients of minorities and Han nationality. In the recipients of minorities and Han nationality, the 1-year graft survival rate was 89.9% and 92%, the respective incidence of DGF was 28.1% and 27.0%, and the respective incidence of acute rejection was 22.5% and 19.0%, and there was no significant difference between them (P>0.05. The incidence of pulmonary infection was higher in minority recipients (30.3% than in Han recipients (10.0%, P0.05. Conclusion  The short-term clinical outcome of renal transplant recipients seems to be similar in different Chinese ethnic groups, but the incidence of pulmonary infection is higher in minority recipients, so it is important to strengthen monitoring in early postoperative period.

  2. Developmental dyslexia in Chinese and English populations: dissociating the effect of dyslexia from language differences

    OpenAIRE

    Hu, W; Lee, H. L.; Zhang, Q; Liu, T; Geng, L. B.; Seghier, M. L.; Shakeshaft, C.; Twomey, T.; Green, D. W.; Yang, Y. M.; Price, C J

    2010-01-01

    Previous neuroimaging studies have suggested that developmental dyslexia has a different neural basis in Chinese and English populations because of known differences in the processing demands of the Chinese and English writing systems. Here, using functional magnetic resonance imaging, we provide the first direct statistically based investigation into how the effect of dyslexia on brain activation is influenced by the Chinese and English writing systems. Brain activation for semantic decision...

  3. Association of protein Z and factor VII gene polymorphisms with risk of cerebral hemorrhage: a case–control and a family-based association study in a Chinese Han pulation

    Indian Academy of Sciences (India)

    YI ZENG; LE ZHANG; ZHIPING HU; QIDONG YANG; MINGMING MA; BAOQIONG LIU; JIAN XIA; HONGWEI XU; YUNHA I LIU; XIAOPING DU

    2016-06-01

    Protein Z (PZ) and factor (F) VII are two important factors in the clotting pathway which have similar structure, linkedfunction and nearby gene sites. The aims of this study were to investigate whether the common variants of PZ and FVII genesare associated with the risk of cerebral hemorrhage (CH) and to explore the combined effects of PZ and FVII polymorphismsfor CH risk. We performed genotyping analysis for two single-nucleotide polymorphisms (SNPs) of FVII (rs510317 andrs6046) and three SNPs of PZ (rs2273971, rs3024718 and rs3024731) both in a population-based case–control study andin a family-based association study. Case–control analysis found no evidence of significant association. But family-basedassociation study revealed that the G allele of PZ rs2273971, and three haplotypes carrying the ‘G’ allele of PZ rs2273971:haplotype GA, CG and CGA of PZ and FVII genes, all had a significant effect on CH susceptibility (Z =1.882,P =0.049;Z =1.922,P =0.044; Z =1.826,P =0.047; Z =1.977,P =0.048, respectively). While, the A allele of PZ rs2273971, andfour haplotypes carrying or crossing the ‘A’ allele of PZ rs2273971: haplotypes CA, ACAA, ACAT and ACAAT of PZ andFVII genes, may confer protection against CH (Z =−1.882,P =0.049; Z =−2.000,P =0.045; Z =−2.319,P =0.020;Z =−2.002,P =0.045; Z =−2.015,P =0.043, respectively). This is a first family-based association study providing geneticevidences that PZ and FVII genes, especially PZ rs2273971 are involved in the development of CH in Han-Chinese families.

  4. Measurement of the volume of internal capsule in healthy Chinese adults of the Han nationality on the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To explore the normal range of the volume of internal capsules in Chinese adults of the Han nationality and its relationship with age, body habitus, and craniocerebral volume. Methods: One thousand healthy volunteers (age range =18 to 80 years) were divided into 5 groups according to their age; Group A (18 to 30 years old), group B (31 to 40 years), group C (41 to 50 years), group D (51 to 60 years), and group E (61 to 80 years). Each group consisted of 100 males and 100 females. MR imaging was performed in all of the volunteers using T1 weighted three-dimensional magnetization prepared rapid acquisition gradient echo sequence. After three dimension data reconstruction, the volumes of bilateral internal capsules were manually measured. The volumes of bilateral internal capsules were compared by paired sample t test. The internal capsule volumes were compared between male and female by independent sample t test, and the differences among 5 age groups were compared by one-way ANOVA. The relationship between the volumes of internal capsule and age, body habitus or cerebral volume were analyzed using bivariate correlation. Results: The left and right internal capsule volumes were (2809 ± 393) and (2677 ± 343 ) mm3 respectively. The left internal capsule volumes were significantly larger than that of right (t=12.078, P<0.05). The left and right side of internal capsule volumes in male were (2863 ± 396) and (2744 ±358) mm3 respectively, and (2754 ±385) and (2609 ±314) mm3 in female. The left and right internal capsule volumes were larger in males than in female (t=1.982, 2.851; P<0.05). The left internal capsule volume of the 5 age groups were (3273 ± 361), (2943 ± 299), (2777 ± 255), (2607 ± 199), (2444 ±213) mm3, and the right were (2993 ± 361), (2814 ± 270), (2682 ± 239), (2543 ± 219), (2351 ±210) mm3. There were significant differences among 5 age groups between left and right internal capsule volume (F=55.244, 34.493; P<0.05). There was

  5. Preliminary characterizations of a serum biomarker for sarcoidosis by comparative proteomic approach with tandem-mass spectrometry in ethnic Han Chinese patients

    Directory of Open Access Journals (Sweden)

    Zhang Yuan

    2013-02-01

    Full Text Available Abstract Background The diagnosis of sarcoidosis is still a significant challenge in China because of the need to exclude other diseases including granulomatous infections and malignancies that may be clinically and radiographically similar. The specific aim of the study is to search for serum protein biomarkers of sarcoidosis and to validate their clinical usefulness in differential diagnosis. Methods Serum samples were collected from patients with sarcoidosis (n = 37, and compared to those from patients with tuberculosis (n = 20, other pulmonary diseases (n = 20, and healthy volunteers (n = 20 for determination of sarcoidosis-specific or -associated protein expression profiles. The first part of this study focused on proteomic analysis of serum from patients with sarcoidosis to identify a pattern of peptides capable of differentiating the studied populations using the ClinProt profiling technology based on mass spectrometry. Enzyme Linked Immunosorbent Assay (ELISA was then used to verify corresponding elevation of the serum protein concentration of the potential biomarkers in the same patients sets. Receiver operating characteristic curve (ROC analyses was performed to determine the optimal cutoff value for diagnosis. Immunohistochemistry was carried out to further confirm the protein expression patterns of the biomarkers in lung tissue. Results An unique protein peak of M/Z 3,210 Daltons (Da was found to be differentially expressed between the sarcoidosis and control groups and was identified as the N-terminal peptide of 29 amino acids (94-122 of serum amyloid A (SAA. ELISA confirmed that the serum SAA level was significantly higher in the sarcoidosis group than that of the other 3 control groups (p p  Conclusion This is the first study to investigate serum protein markers in Chinese subjects with sarcoidosis. This study shows that the serum SAA expression profiles were different between the sarcoidosis and non

  6. Association between HLA-B51 alleles and Behcet's disease in Chinese Han nationality%HLA-B51与白塞病相关性研究

    Institute of Scientific and Technical Information of China (English)

    李晓建; 陈明华; 郑志忠

    2009-01-01

    Objective To investigate the possible association between HLA-B51 alleles and Behcet's disease (BD). Methods Totally, 61 Chinese patients of Han nationality, who were diagnosed with BD according to the International Study Group (ISG) criteria, were recruited. The control cohort consisted of 100 healthy individuals. Blood samples were obtained from all the subjects. PCR-sequenee specific primers (SSPs) were used to for the genotyping of HLA-B51 alleles (HLA-B5101-HLA-B5109). Results Com- pared with the control group (11 positive, 11% ), the frequency of HLA-B51 (18 positive, 29.5% ) was sig- nificantly increased in BD patients (χ2=8.79, P<0.01, RR=3.39). The HLA-B51-positive patients and controls consistently carried HLA-B5101 allele with no other alleles observed. There were 15 males and 3 females in HLA-B51 positive patients, 22 males and 21 females in HLA-B51-negative patients, and signifi- cant differences in gender distribution was observed between HLA-B51-positive and negative patients (P<0.05 ). Moreover, the average age of onset in HLA-B51-positive patients significantly differed from that in HLA-B51-negative patients (28.4±10 years vs 37.3±12 years, P<0.05). However, no significant differ- ences were noticed in the clinical types, course, skin lesions, prevalence of genital ulcer, eye damage, joint involvement, or pathergy reaction between HLA-B51-positive and -negative patients (P0.05). Conclu- sions This study supports that HLA-B5101 allele is associated not only with the development of BD, but also with the gender and onset age of patients with BD of Chinese Han nationality.%目的 探讨HLA-B51等位基因和白塞病的相关性.方法 应用PCR-SSP(序列特异性引物)技术对61例中国汉族白塞病患者及100例正常人对照的HLA-B5101~HLA-B5109等位基因进行检测.结果 与对照组(11例阳性,11%)相比,白塞病组HLA-B51频率(18例阳性,29.5%)明显增高(χ2=8.79,P<0.01,RR=3.39),且白塞病组与对照组中HLA-B51

  7. Development of the 19 X-STR loci multiplex system and genetic analysis of a Zhejiang Han population in China.

    Science.gov (United States)

    Yang, XingYi; Wu, WeiWei; Chen, LinLi; Liu, ChangHui; Zhang, XiaoFang; Chen, Ling; Feng, XingLin; Wang, HuiJun; Liu, Chao

    2016-08-01

    The 19 X-STRs multiplex system is a PCR-based amplification kit that facilitates simultaneous amplification of 19 X-chromosomal STR loci (i.e. DXS7423, DXS10148, DXS10159, DXS6809, DXS7424, DXS8378, DXS10164, DXS10162, DXS7132, DXS10079, DXS6789, DXS101, DXS10103,DXS10101, HPTRB, DXS10075, DXS10074, DXS10135, and DXS10134). Eleven loci were extensively used in an Investigator Qiagen Argus X-12 (DXS7423, DXS10148, DXS8378, DXS10162, DXS7132, DXS10079, DXS10103, DXS10101, HPTRB, DXS10074, and DXS10135). In this research, the multiplex system was tested for detection sensitivity, DNA mixtures, inhibitor tolerance and species specificity; SWGDAM Validation Guidelines - Approved December 2012 were followed for the human fluorescent STR multiplex PCR reagent. Samples from 181 unrelated Zhejiang Han individuals (121 males and 60 females) were typed using this multiplex system. The results show that this 19X-STRs multiplex system is a robust and reliable amplification means to facilitate forensic and human identification testing. PMID:27184937

  8. Urban Open Space Design for the Chinese Floating Population Community: Planning and Site Design Guidelines

    OpenAIRE

    ZHANG Yanting

    2011-01-01

    Chinese floating population residentsâ underprivileged living status and intensified social tension are becoming the two major issues inside their community living settlements. The thesis research holds the position that urban open space can enhance Chinese floating populationâ s quality of life and also contribute to the social capital within their living settlement. It is critical to create the open space system that brings great social and health benefits to the group. Literature review...

  9. Association of FTO Mutations with Risk and Survival of Breast Cancer in a Chinese Population

    OpenAIRE

    Xianxu Zeng; Zhenying Ban; Jing Cao; Wei Zhang; Tianjiao Chu; Dongmei Lei; Yanmin Du

    2015-01-01

    Recently, several studies have reported associations between fat mass and obesity-associated (FTO) gene mutations and cancer susceptibility. But little is known about their association with risk and survival of breast cancer in Chinese population. The aim of this study is to examine whether cancer-related FTO polymorphisms are associated with risk and survival of breast cancer and BMI levels in controls in a Chinese population. We genotyped six FTO polymorphisms in a case-control study, inclu...

  10. Population and conservation strategies for the Chinese crocodile lizard (Shinisaurus crocodilurus) in China

    OpenAIRE

    C. M. Huang; Yu, H.; Wu, Z. J.; Li, Y. B.; Wei, F. W.; Gong, M. H.

    2008-01-01

    The Chinese crocodile lizard (Shinisaurus crocodilurus) is an unusual anguimorph lizard found mainly in China. Transect surveys estimate a total wild population of about 950 individuals in China. This is a dramatic decrease compared with previous surveys. At present, there are only eight areas of distribution. No Chinese crocodile lizards have been found in four former areas for several years. Investigations have demonstrated that poaching has contributed directly to the population decline. H...

  11. Characterization of M2 antibodies in asymptomatic Chinese population

    Institute of Scientific and Technical Information of China (English)

    Xiao-Hua Jiang; Ren-Qian Zhong; Xiao-Yun Fan; Yin Hu; Feng An; Jian-Wen Sun; Xian-Tao Kong

    2003-01-01

    AIM: To investigate the presence of M2 antibodies specific for pdmary biliary cirrhosis (PBC) in asymptomatic Chinese and identify patients with early PBC.METHODS: Enzyme-linked immunosorbent assay (ElISA)tests for M2 antibodies to recombinant protein were performed in 5 011 subjects (age range, 26-85 years; mean age: 45.81±15.02 years) who took an annual physical examination. M2-positive subjects were further analyzed for immunoglobulin (Ig) classes and subclasses of M2 antibodies.Clinical, biochemical and immunological data were obtained for M2-positive subjects. In addition, ultrasonography (US)or endoscopic retrograde cholangio-pancreatography (ERCP)was performed to exclude any disorders other than PBC.RESULTS: M2 antibodies were detected in 8 (0.16%) of the 5 0LL subjects studied. Of the 8 subjects, 7 were female and 1 was male (age range: 40-74 years). An unexplained increase of serum alkaline phosphatase (ALP) and gamma glutamyl transpeptidase (γ-GT) values, often to striking levels,was detected in 4 M2-positive subjects, 3 of them accorded with the diagnostic criteria recommended by the American Association for the Study of Liver Diseases, even though they had no symptoms of PBC (such as fatigue, pruritus or jaundice).Liver biopsy was performed in two M2-positive subjects and the histology was compatible with PBC in both cases.CONCLUSION: Our data, while not assessing the true prevalence of asymptomatic PBC in the general population,suggest that asymptomatic PBC is much more common in China than has been supposed.

  12. High resolution linkage disequilibrium and haplotype maps for the genes in the centromeric region of chromo- some 15 in Tibetans and comparisons with Han population

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Genetic variations and their functional implications have been one of the focuses in recent genome research. With the release of the HapMap by the International Consortium, and the availability of the ultra-high-volume genotyping platform, it will soon be possible to use genome-wide association approach to identify genetic variations responsible for complex traits/diseases. While the power of this approach is generally agreed, it is a debated issue as to how much population difference should be exploited, and how best it should be applied. To address this issue we have sequenced 7 genes in the centromeric region of chromosome 15, investigated their SNPs, SNP frequencies, tagSNPs, LD structures, and haplotypes in 50 Tibetan subjects, and compared them with those from the Han population. Genetic diversities between the two populations were also quantified. Our results show that the overall genetic variation between the two populations is very little, but there are differences, primarily in allele frequencies, which is a dominating factor for haplotypes and tagSNPs. In general Tibetans have longer LD and less diversity in the region studied. These data provide genetic evidence for the close relationship between the two populations, and support the idea that all populations are fundamentally the same, but also indicate population variations, particularly in allele frequency, should be taken into account in complex traits/ diseases analysis. Data obtained in this investigation not only help us understand the genome region, but also provide road maps for variation study in the genes/ region in Tibetan population.

  13. Apolipoprotein E gene polymorphisms are associated with primary hyperuricemia in a Chinese population.

    Directory of Open Access Journals (Sweden)

    Jie Wu

    Full Text Available OBJECTIVE: Primary hyperuricemia, an excess of uric acid in the blood, is a major public health problem. In addition to the morbidity that is attributable to gout, hyperuricemia is also associated with metabolic syndrome, hypertension, and cardiovascular disease. This study aims to assess the genetic associations between Apolipoprotein E (APOE polymorphisms and hyperuricemia in a Chinese population. METHODS: A total of 770 subjects (356 hyperuricemic cases and 414 normouricemic controls were recruited from the Ningxia Hui Autonomous Region, China. A physical examination was performed and fasting blood was collected for biochemical tests, including determination of the levels of serum lipid, creatinine, and uric acid. Multi-ARMS PCR was applied to determine the APOE genotypes, followed by an investigation of the distribution of APOE genotypes and alleles frequencies in the controls and cases. RESULTS: The frequencies of the APOE-ε2ε3 genotype (17.70% vs. 10.39%, P = 0.003 and the APOE-ε2 allele (10.53% vs. 5.80%, P = 0.001 were significantly higher in the hyperuricemic group than in the normouricemic group. Furthermore, male cases were more likely to have the APOE-ε2ε3 genotype and APOE-ε2 allele, compared with male controls. In both Han and Hui subjects, cases were more likely to have the APOE-ε2ε3 genotype and the APOE-ε2 allele compared with controls. Furthermore, multivariate logistic regression showed that carriers of the APOE-ε2ε3 genotype (P = 0.001, OR = 2.194 and the ε2 allele (P = 0.001, OR = 2.099 were significantly more likely to experience hyperuricemia than carriers of the ε3/ε3 genotype and the ε3 allele after adjustment for sex, body mass index (BMI, diastolic blood pressure (DBP, triglyceride (TG, low density lipoprotein cholesterol (LDL-C, creatinine (Cr and fasting blood glucose (FBG. CONCLUSIONS: The APOE-ε2ε3 genotype and the APOE-ε2 allele are associated with serum uric acid levels

  14. 广东汉族人群KIR-HLA信号系统多样性研究%Diversity of KIR-HLA signal system in guangdong han population

    Institute of Scientific and Technical Information of China (English)

    尹晓林; 邓兰; 马红京; 郭坤元; 张新华; 周天红

    2006-01-01

    [Objective] To investigate the distribution of KIR-HLA signal system in Guangdong Han population.[Methods] 79 cases of healthy donors from Guangdong Han population were studied. SSP and SSOP were used to type HLA-A, B Cw. KIR typing was realized through SSP. Frequency of KIR-HLA combination is analyzed, [Results] KIR2DL2/3-HLA-CwAsn80 (65.8%) was the main inhibitorv KIR-HLA combination, then KIR3DL1-HLA-BBw4(62.6%), KIR3DL1-HLA-A11 (54.2%), and KIR2DL1-HLA-CwLys80 (25.4%). Frequencies of expressing KIR2DL1,KIR2DL2/3 or KIR3DL1 without corresponding HLA ligand were 63.3%(50 cases), 1.3%(1 case), 31.6%(25 cases),respectively. Frequencies of KIR2DS1-HLA-CwLys80, KIR2DS2-HLA-CwAsn80, KIR3DS1-HLA-BBw4 were 2.5% (2cases), 26.6%(21 cases), 16.5%(13 cases), respectively. [Conclusion] KIR-HLA is highly diversity in Guangdong Han population.%目的 探讨广东汉族人群KIR-HLA信号系统表达规律.方法 对79例广东汉族正常人行KIR、HLA分型,根据KIR-HLA间识别规律,分析各KIR-HLA受体配体对的频率.结果 KIR2DL2/3-HLA-CwAsn80(65.8%)是主要的抑制性KIR-HLA受体配体对,其次是KIR3DL1-HLA-BBw4(62.6%),KIR3DL1-HLA-A11(54.2%),和KIR2DL1-HLA-CwLys80(25.4%).表达KIR2DL1,KIR2DL2/3或KIR3DL1而不表达相应HLA配体的频率分别是63.3%、1.3%、31.6%.KIR2DS1-HLA-CwLys80,KIR2DS2-HLA-CwAsn80,KIR3DS1-HLA-BBw4的频率分别是2.5%、26.6%、16.5%.结论 KIR-HLA信号系统在广东汉族人群有较高的多样性.

  15. Features and variations of a radial artery approach in southern Chinese populations and their clinical significance in percutaneous coronary intervention

    Institute of Scientific and Technical Information of China (English)

    LI Lang; ZENG Zhi-yu; ZHONG Ji-ming; WU Xiang-hong; ZENG Shu-yi; TANG Er-wen; CHEN Wei

    2013-01-01

    Background More and more percutaneous coronary intervention were done from radial artery approach.But the great limitation of radial artery approach and main failure cause of transradial coronary intervention is smaller size and more variations of a radial artery approach.The aim of the study is to explore the features and variations of a radial artery approach in southern Chinese populations and their clinical significance in percutaneous coronary intervention.Methods A total of 1400 patients who underwent scheduled first time transradial coronary angiography between July 2007 and September 2010 were enrolled.Radial arteriography was performed in all patients to detect the anatomical variations of this vessel.All patients' radial and ulnar artery inner diameters were measured using a computer assisted quantification method.A detailed patient history was recorded.Multivariate Logistic regression analysis was performed to evaluate the predictive value of variables (including age,gender,ethnicity,height,weight,body mass index,smoking,diabetes,hypertension and dyslipidemia) in arterial tortuosities and variations of this vessel.Results In southern Chinese populations,there were no significant differences in the diameters of the forearm arteries:the mean radial artery inner diameter was (3.04±0.43) mm in ethnic Han Chinese and (3.05±0.42) mm in ethnic Zhuang Chinese,P >0.05),the mean ulnar artery inner diameter was (3.03±0.38) mm in Han Chinese and (3.05±0.36) mm in Zhuang Chinese,P >0.05).It was estimated that the inner diameter of the radial artery was not smaller than a 6F Cordis sheath in 86.1% of male patients and in 57.0% of female patients,and not smaller than a 7F Cordis sheath in 59.3% of male patients and 24.9% of female patients.The factors found to positively affect the size of the radial artery were sex (bj=0.309,P <0.01),weight (bj=0.103,P <0.01),and diabetes mellitus (bj=-0.088,P <0.01) was found to negatively affect radial artery

  16. Strategies for piloting a breast health promotion program in the Chinese-Australian population.

    Science.gov (United States)

    Koo, Fung Kuen; Kwok, Cannas; White, Kate; D'Abrew, Natalie; Roydhouse, Jessica K

    2012-01-01

    In Australia, women from non-English-speaking backgrounds participate less frequently in breast cancer screening than English-speaking women, and Chinese immigrant women are 50% less likely to participate in breast examinations than Australian-born women. Chinese-born Australians comprise 10% of the overseas-born Australian population, and the immigrant Chinese population in Australia is rapidly increasing. We report on the strategies used in a pilot breast health promotion program, Living with Healthy Breasts, aimed at Cantonese-speaking adult immigrant women in Sydney, Australia. The program consisted of a 1-day education session and a 2-hour follow-up session. We used 5 types of strategies commonly used for cultural targeting (peripheral, evidential, sociocultural, linguistic, and constituent-involving) in a framework of traditional Chinese philosophies (Confucianism, Taoism, and Buddhism) to deliver breast health messages to Chinese-Australian immigrant women. Creating the program's content and materials required careful consideration of color (pink to indicate femininity and love), symbols (peach blossoms to imply longevity), word choice (avoidance of the word death), location and timing (held in a Chinese restaurant a few months after the Chinese New Year), communication patterns (the use of metaphors and cartoons for discussing health-related matters), and concern for modesty (emphasizing that all presenters and team members were female) to maximize cultural relevance. Using these strategies may be beneficial for designing and implementing breast cancer prevention programs in Cantonese-speaking Chinese immigrant communities. PMID:22172170

  17. 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

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    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 ℃ . 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.

  18. 807C/T polymorphism of platelet glycoprotein Ia gene is associated with cerebral hemorrhage in a Chinese population.

    Science.gov (United States)

    Zeng, Yi; Zhang, Le; Hu, Zhiping; Yang, Qidong; Ma, Mingming; Liu, Baoqiong; Xia, Jian; Xu, Hongwei; Liu, Yunhai; Du, Xiaoping

    2016-08-01

    Platelet glycoprotein (GP) mediated the role of platelet in coagulation. Platelet GP Ia 807C/T is the only GP polymorphism associated with the expression levels of GP Ia/IIa (the platelet collagen receptor). Recently, the GP Ia 807C/T polymorphism has been reported to have no association with cerebral hemorrhage (CH) in two studies pertained to Caucasian populations. The purpose of this study is to evaluate the association between platelet GP Ia 807C/T polymorphism and CH in a Han Chinese population. We performed genotype analysis for platelet GP Ia 807C/T polymorphism in a case-control study involving 195 patients with CH and 116 age- and sex-matched controls. In contrast to previous reports, we found that the frequencies of GP Ia 807C/T T allele, CT and TT genotype were much higher in CH patients than in controls (33.9% vs. 22.8%, p = 0.004; 45.5% and 11.1% vs. 40.4% and 2.6%, p = 0.022). Logistic regression analysis revealed that the presence of GP Ia 807C/T C allele and CC genotype were both associated with a decreased risk of CH compared with T allele, CT and TT genotypes, respectively (adjusted odds ratio [OR] = 0.565, 95% CI: 0.384-0.887, p = 0.005; adjusted OR = 0.172, 95% CI: 0.043-0.639, p = 0.009; adjusted OR = 0.254, 95% CI: 0.085-0.961, p = 0.041, respectively). These findings indicated that platelet GP Ia 807C/T polymorphism could be a protective factor of CH in the Chinese population. PMID:26134877

  19. Prevalence of temporomandibular disorder pain in Chinese adolescents compared to an age-matched Swedish population.

    Science.gov (United States)

    Hongxing, L; Astrøm, A N; List, T; Nilsson, I-M; Johansson, A

    2016-04-01

    This study aimed to (i) assess the prevalence and perceived need for treatment of TMD pain, and its association with socio-economic factors and gender, in adolescents in Xi᾽an, Shaanxi Province, China, and (ii) compare the prevalence and association with gender of TMD pain in Xi᾽an to an age-matched Swedish population. We surveyed Chinese adolescents aged 15 to 19 years in Xi'an, China (n = 5524), using a questionnaire with two-stage stratified sampling and the school as the sampling unit. The study included second-year students at selected high schools. It also included an age-matched Swedish population (n = 17 015) surveyed using the same diagnostic criteria for TMD pain as that used in the Chinese sample. The survey found TMD pain in 14·8% (n = 817) of the Chinese sample and 5·1% (n = 871) of the Swedish sample (P < 0·0001). Girls had significantly more TMD pain than boys in both the Chinese (P < 0·05) and Swedish (P < 0·001) samples. TMD pain increased with age in the Chinese population. Of the Chinese adolescents with TMD pain, 47% reported that they felt a need for treatment. Rural schools, low paternal education levels, poverty, living outside the home, poor general and oral health, and dissatisfaction with teeth all showed significant positive correlations with TMD pain. Prevalence of TMD pain in Chinese adolescents was significantly higher than in the Swedish sample. PMID:26538188

  20. MITOCHONDRIAL DNA POLYMORPHISM IN CONTROL REGION FROM CHINESE YUGU POPULATION

    Institute of Scientific and Technical Information of China (English)

    刘新社; 李生斌

    2004-01-01

    Objective To investigate the mitochondrial DNA sequence polymorphism sites in Chinese YUGU ethnic group and to provide basic data used in forensic purpose. Methods Genomic DNA was extracted from the hole blood of 100 unrelated individuals of Chinese YUGU ethnic group by standard chelex-100 method. The sequence polymorphism sites was determined by PCR amplification and direct sequencing. Results 54 polymorphic sites were noted in mtDNA np16091-16418 region, and 46 haplotypes were identified. The genetic diversity was calculated to be 0.9691, and the genetic identity was calculated to be 0.0406. Conclusion There are some particular polymorphism sites in Chinese YUGU ethnic group. The results suggest that sequence polymorphism from np16091-16418 in human mitochondrial DNA can be used as a biological marker for forensic identity.

  1. Spatiotemporal dataset on Chinese population distribution and its driving factors from 1949 to 2013

    OpenAIRE

    Wang, Lizhe; Chen, Lajiao

    2016-01-01

    Spatio-temporal data on human population and its driving factors is critical to understanding and responding to population problems. Unfortunately, such spatio-temporal data on a large scale and over the long term are often difficult to obtain. Here, we present a dataset on Chinese population distribution and its driving factors over a remarkably long period, from 1949 to 2013. Driving factors of population distribution were selected according to the push-pull migration laws, which were summa...

  2. The genetic variants at the HLA-DRB1 gene are associated with primary IgA nephropathy in Han Chinese

    Directory of Open Access Journals (Sweden)

    Jiyun Yang

    2012-05-01

    Full Text Available Abstract Background Immunoglobulin A nephropathy (IgAN, an immune-complex-mediated glomerulonephritis defined immunohistologically by the presence of glomerular IgA deposits, is the most common primary glomerular disease worldwide and a significant cause of end-stage renal disease. Familial clustering of patients with IgAN suggests a genetic predisposition. Methods In this study, 192 patients with IgAN and 192 normal controls in the Sichuan cohort and 935 patients with IgAN and 2,103 normal controls in the Beijing cohort were investigated. HLA-DRB1*01–DRB1*10 specificities were genotyped by the PCR–SSP technique in both cohorts. Based on the HLA-DRB1*04-positive results, the subtypes of HLA-DRB1*04 were analyzed using sequencing-based typing (SBT in 291 IgAN cases and 420 matched controls. Results The frequency of HLA-DRB1*04 in the IgAN group was significantly higher than that in the control group (0.129 vs. 0.092, P = 8.29 × 10-5, odds ratio (OR =1.381, 95% confidence interval (CI 1.178–1.619. Other alleles at the HLA-DRB1 locus were observed with no significant differences between the case and control groups. The dominant alleles of the HLA-DRB1*04 subtypes were DRB1*0405 in both cohorts. The frequencies of HLA-DRB1*0405 and 0403 were significantly increased in the patients compared to healthy subjects. Conclusion HLA-DRB1*04 was significantly associated with primary IgAN in Chinese population. This result implies that HLA-DRB1 gene plays a major role in primary IgAN.

  3. Emilin1 gene and essential hypertension: a two-stage association study in northern Han Chinese population

    Directory of Open Access Journals (Sweden)

    Huang Jianfeng

    2009-11-01

    Full Text Available Abstract Background Elastogenesis of elastic extracellular matrix (ECM which was recognized as a major component of blood vessels has been believed for a long time to play only a passive role in the dynamic vascular changes of typical hypertension. Emilin1 gene participated in the transcription of ECM's formation and was recognized to modulate links TGF-β maturation to blood pressure homeostasis in animal study. Recently relevant advances urge further researches to investigate the role of Emilin1 gene in regulating TGF-β signals involved in elastogenesis and vascular cell defects of essential hypertension (EH. Methods We designed a two-stage case-control study and selected three single nucleotide polymorphisms (SNPs, rs3754734, rs2011616 and rs2304682 from the HapMap database, which covered Emilin1 gene. Totally 2,586 subjects were recruited from the International Collaborative Study of Cardiovascular Disease in Asia (InterASIA. In stage 1, all the three SNPs of the Emilin1 gene were genotyped and tested within a subsample including 503 cases and 490 controls, significant SNPs would enter into stage 2 including 814 cases with hypertension and 779 controls and analyze on the basis of testing total 2,586 subjects. Results In stage 1, single locus analyses showed that SNPs rs3754734 and rs2011616 had significant association with EH (P Conclusion Our findings don't support positive association of Emilin1 gene with EH, but the interaction of age and genotype variation of rs3754734 and rs2011616 might increase the risk to hypertension.

  4. Association of mitochondrial DNA variations with lung cancer risk in a Han Chinese population from southwestern China.

    Directory of Open Access Journals (Sweden)

    Shizhen Zheng

    Full Text Available Mitochondrial DNA (mtDNA is particularly susceptible to oxidative damage and mutation due to the high rate of reactive oxygen species (ROS production and limited DNA-repair capacity in mitochondrial. Previous studies demonstrated that the increased mtDNA copy number for compensation for damage, which was associated with cigarette smoking, has been found to be associated with lung cancer risk among heavy smokers. Given that the common and "non-pathological" mtDNA variations determine differences in oxidative phosphorylation performance and ROS production, an important determinant of lung cancer risk, we hypothesize that the mtDNA variations may play roles in lung cancer risk. To test this hypothesis, we conducted a case-control study to compare the frequencies of mtDNA haplogroups and an 822 bp mtDNA deletion between 422 lung cancer patients and 504 controls. Multivariate logistic regression analysis revealed that haplogroups D and F were related to individual lung cancer resistance (OR = 0.465, 95%CI = 0.329-0.656, p<0.001; and OR = 0.622, 95%CI = 0.425-0.909, p = 0.014, respectively, while haplogroups G and M7 might be risk factors for lung cancer (OR = 3.924, 95%CI = 1.757-6.689, p<0.001; and OR = 2.037, 95%CI = 1.253-3.312, p = 0.004, respectively. Additionally, multivariate logistic regression analysis revealed that cigarette smoking was a risk factor for the 822 bp mtDNA deletion. Furthermore, the increased frequencies of the mtDNA deletion in male cigarette smoking subjects of combined cases and controls with haplogroup D indicated that the haplogroup D might be susceptible to DNA damage from external ROS caused by heavy cigarette smoking.

  5. Association of ADAM33 gene polymorphisms with adult allergic asthma and rhinitis in a Chinese Han population

    OpenAIRE

    Jin Lianhong; Lü Fuzhen; Sui Hong; Zhang Ximei; Su Dongju; Zhang Jing

    2008-01-01

    Abstract Background Rhinitis and asthma are very common diseases involving genetic and environmental factors. Most patients with asthma also have rhinitis, which suggests the concept of 'one airway, one disease.' A disintegrin and metalloproteinase 33 (ADAM33) is the first asthma-susceptible gene to be discovered by positional cloning. To evaluate the potential influence of ADAM33 gene polymorphisms on allergic rhinitis (AR) and allergic asthma (AS), a case-control study was conducted on the ...

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

    OpenAIRE

    LIU, Shengyuan; Li, Keshen; Li, Tao; Xiong, Xingdong; Yao, Songpo; Chen, Zhongwei; Wang, Changyi; Zhao, Bin

    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 associ...

  7. Do nuclear-encoded core subunits of mitochondrial complex I confer genetic susceptibility to schizophrenia in Han Chinese populations?

    OpenAIRE

    Xiao Li; Wen Zhang; Jinsong Tang; Liwen Tan; Xiong-jian Luo; Xiaogang Chen; Yong-Gang Yao

    2015-01-01

    Schizophrenia is one of the most prevalent psychiatric disorders with complex genetic etiology. Accumulating evidence suggests that energy metabolism and oxidative stress play important roles in the pathophysiology of schizophrenia. Dysfunction of mitochondrial respiratory chain and altered expression of complex I subunits were frequently reported in schizophrenia. To investigate whether nuclear-encoded core subunit genes of mitochondrial complex I are associated with schizophrenia, we perfor...

  8. Irradiation-induced telomerase activity and gastric cancer risk: a case-control analysis in a Chinese Han population

    International Nuclear Information System (INIS)

    Telomerase expression is one of the characteristics of gastric cancer (GC) cells and telomerase activity is frequently up-regulated by a variety of mechanisms during GC development. Therefore, we hypothesized that elevated levels of activated telomerase might enhance GC risk due to increased propagation of cells with DNA damage, such as induced by γ-radiation. To explore this hypothesis, 246 GC cases and 246 matched controls were recruited in our case-control study. TRAP-ELISA was used to assess the levels of telomerase activity at baseline and after γ-radiation and the γ-radiation-induced telomerase activity (defined as after γ-irradiation/baseline) in cultured peripheral blood lymphocytes (PBLs). Our data showed that there was no significant difference for the baseline telomerase activity between GC cases and controls (10.17 ± 7.21 vs. 11.02 ± 8.03, p = 0.168). However, after γ-radiation treatment, γ-radiation-induced telomerase activity was significantly higher in the cases than in the controls (1.51 ± 0.93 vs. 1.22 ± 0.66, p < 0.001). Using the median value of γ-radiation-induced telomerase activity in the controls as a cutoff point, we observed that high γ-radiation-induced telomerase activity was associated with a significantly increased GC risk (adjusted odds ratio, 2.45; 95% confidence interval, 1.83-3.18). Moreover, a dose response association was noted between γ-radiation-induced telomerase activity and GC risk. Age, but not sex, smoking and drinking status seem to have a modulating effect on the γ-radiation-induced telomerase activities in both cases and controls. Overall, our findings for the first time suggest that the increased γ-radiation-induced telomerase activity in PBLs might be associated with elevated GC risk. Further confirmation of this association using a prospective study design is warranted

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

    OpenAIRE

    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...

  10. Relationship between the gene polymorphisms of kallikrein-kinin system and Alzheimer's disease in a Hunan Han Chinese population.

    Science.gov (United States)

    Deng, Yanyao; Hou, Deren; Tian, Mi; Li, Wei; Feng, Xialu; Yu, Zhuling

    2015-01-01

    This study aimed to determine the connection between polymorphisms of kallikrein kinin system including KLK1 (rs5516), KNG1 (rs710446, rs2304456) and ACE (rs4291, rs4309, rs4343) and late-onset Alzheimer's disease (LOAD). The research was conducted as a case-control study, comprising 201 AD patients in the AD group, and 257 healthy subjects as the control group. PCR amplification and matrix-assisted laser desorption-ionization time-of-flight mass spectrometry (MALDI-TOF MS) were used to detect the six polymorphisms (rs5516 in KLK1; rs710446, rs2304456 in KNG1; rs4291, rs4309, rs4343 in ACE) from both groups. No statistically significant difference was found between the genotype and allelotype distributions of rs5516, rs710446, rs2304456, rs4291 and rs4343 (P>0.05). The differences between the genotype and allelotype distributions of the rs4309 were statistically significant (PTCG, TTA, TTG) composed of rs4291/rs4309/rs4343, among which the distribution of ATA, ACA, TCA between the two groups was statistically significant difference (P<0.05). Our study showed that the polymorphisms of rs5516, rs710446, rs2304456, rs4291 and rs4343 is not related to the incidence of LOAD. The polymorphisms of rs4309 may be related to LOAD, as well as ATA, ACA, and TCA haplotype composed of rs4291/rs4309/rs4343. PMID:26884824

  11. Association study of SHANK3 gene polymorphisms with autism in Chinese Han population

    OpenAIRE

    Ruan Yan; Lu Tianlan; Wang Lifang; Jia Meixiang; Qin Jian; Liu Jing; Guo Yanqing; Zhang Jishui; Yang Xiaoling; Yue Weihua; Zhang Dai

    2009-01-01

    Abstract Background Autism, a heterogeneous disease, is described as a genetic psychiatry disorder. Recently, abnormalities at the synapse are supposed to be important for the etiology of autism.SHANK3 (SH3 and multiple ankyrin repeat domains protein) gene encodes a master synaptic scaffolding protein at postsynaptic density (PSD) of excitatory synapse. Rare mutations and copy number variation (CNV) evidence suggested SHANK3 as a strong candidate gene for the pathogenesis of autism. Methods W...

  12. The effects of SP110's associated genes on fresh cavitary pulmonary tuberculosis in Han Chinese population.

    Science.gov (United States)

    Jiang, Shi-Yao; Li, Lin-Lin; Yue, Jun; Chen, Wen-Zhong; Yang, Chao; Wan, Chun-Ling; He, Lin; Cai, Lei; Deng, Shao-Li

    2016-05-01

    SP110 is a promising anti-Mycobacterium tuberculosis (MTB) gene. To investigate the effects of SP110 and its associated genes, i.e., MYBBP1A and RELA, on pathological progression of MTB infection, an association study with 424 patients of fresh pulmonary tuberculosis (PTB) and 424 healthy controls was performed. Moreover, classification and regression tree and multifactor dimensionality reduction were employed to explore the effects of gene-gene interactions on cavitary PTB. The results indicated that both the heterozygous genotype GC and homozygous genotype CC in rs3809849 had significant effects on the risk of PTB (OR 1.42, 95 % CI 1.06-1.92, p 0.019; OR 1.55, 95 % CI 1.04-2.33, p = 0.033, respectively), and heterozygous genotype CT in rs9061 also had similar effects (OR 1.43, 95 % CI 1.07-1.90, p = 0.014). The rs3809849 and rs9905742 in MYBBP1A were also significantly associated with cavitary PTB (p = 0.00046 and 0.039, respectively), while rs9061 in SP110 had no such association (p = 0.06931) except its significant association with non-cavitary PTB (p = 0.0093). The interaction of MYBBP1A and RELA had significant effect on cavitary PTB (OR 4.24, 95 % CI 1.44-12.49, p = 0.005). These suggest that MYBBP1A instead of SP110 may be a genetic risk factor for cavitary PTB and play important effects on its whole progress. PMID:25612917

  13. Association between leukotriene C4 synthase A-444C polymorphism and asthma in Chinese Han population in Beijing

    Institute of Scientific and Technical Information of China (English)

    PAN Ming-ming; SUN Tie-ying; ZHANG Hong-sheng

    2006-01-01

    @@ Leukotrienes (LTs) are synthesized from membrane derived arachidonic acid.Downstream of 5-lipoxygenase in the arachidonic acid cascade, leukotriene C4 synthase (LTC4S)catalyses the conjugation of leukotriene A4 (LTA4)with reduced glutathione to form LTC4, then LTC4 convert to active metabolites LTD4 and LTE4. LTC4,LTD4 and LTE4, which are called cysteinyl leukotrienes (CysLTs), are potent proinflammatory mediators of asthma. LTC4S is the key enzyme involved in the formation of CysLTs. There is a polymorphism of adenine (A) to cytosine (C)transversion at -444 locus in the promoter region of the LTC4S gene, A-444C.1 This allelic variant results in an extra recognition site for the Ap-2 transcription factor and is associated with an increased LTC4S transcription rate.2 Some studies in other countries suggest that LTC4S A-444C polymorphism is associated with asthmatic severity and clinical response to leukotriene receptor antagonist.3-5

  14. Establishment and characterization of primary lung cancer cell lines from Chinese population

    Institute of Scientific and Technical Information of China (English)

    Chao ZHENG; Yi-hua SUN; Xiao-lei YE; Hai-quan CHEN; Hong-bin JI

    2011-01-01

    Aim: To establish and characterize primary lung cancer cell lines from Chinese population.Methods: Lung cancer specimens or pleural effusions were collected from Chinese lung cancer patients and cultured in vitro with ACL4 medium (for non-small cell lung carcinomas (NSCLC)) or HITES medium (for small cell lung carcinomas (SCLC)) supplemented with 5%FBS. All cell lines were maintained in culture for more than 25 passages. Most of these cell lines were further analyzed for oncogenic mutations, karyotype, cell growth kinetics, and tumorigenicity in nude mice.Results: Eight primary cell lines from Chinese lung cancer patients were established and characterized, including seven NSCLC cell lines and one SCLC cell line. Five NSCLC cell lines were found to harbor epidermal growth factor receptor (EGFR) kinase domain mutations.Conclusion: These well-characterized primary lung cancer cell lines from Chinese population provide a unique platform for future studies of the ethnic differences in lung cancer biology and drug response.

  15. Wealth Inequality and Mental Disability Among the Chinese Population: A Population Based Study

    Directory of Open Access Journals (Sweden)

    Zhenjie Wang

    2015-10-01

    Full Text Available In the study described herein, we investigated and explored the association between wealth inequality and the risk of mental disability in the Chinese population. We used nationally represented, population-based data from the second China National Sample Survey on Disability, conducted in 2006. A total of 1,724,398 study subjects between the ages of 15 and 64, including 10,095 subjects with mental disability only, were used for the analysis. Wealth status was estimated by a wealth index that was derived from a principal component analysis of 10 household assets and four other variables related to wealth. Logistic regression analysis was used to estimate the odds ratio (OR and 95% confidence interval (CI for mental disability for each category, with the lowest quintile category as the referent. Confounding variables under consideration were age, gender, residence area, marital status, ethnicity, education, current employment status, household size, house type, homeownership and living arrangement. The distribution of various types and severities of mental disability differed significantly by wealth index category in the present population. Wealth index category had a positive association with mild mental disability (p for trend <0.01, but had a negative association with extremely severe mental disability (p for trend <0.01. Moreover, wealth index category had a significant, inverse association with mental disability when all severities of mental disability were taken into consideration. This study’s results suggest that wealth is a significant factor in the distribution of mental disability and it might have different influences on various types and severities of mental disability.

  16. Association between polymorphisms in transforming growth factor-β1 and sporadic Alzheimer's disease in a Chinese population.

    Science.gov (United States)

    Yang, Qin; Wang, En-Yin; Jia, Hui-Wen; Wang, Yan-Ping

    2016-11-01

    Alzheimer's disease (AD) is the most common neurodegenerative disorder of the brain. It causes the slow progressive loss of cognitive functions that ultimately leads to dementia and death in the elderly. The etiology and mechanism of late-onset AD (LOAD) are poorly understood, and genetic factors might play an important role in the development of AD. The aim of this study was to investigate the association between common polymorphisms in TGF-β1 with LOAD in a Chinese Han population. Two single nucleotide polymorphisms in TGF-β1 (rs1800469 and rs1982073) were genotyped in 202 patients with sporadic LOAD and 225 control subjects using polymerase chain reaction restriction fragment length polymorphism. Our results showed that rs1800469 in TGF-β1 were significantly associated with LOAD. The frequencies of the AC genotypes of rs1800469 were significantly higher in the LOAD patients than in the control subjects (42.5% vs 28.6%; P = 0.001). The minor allele (C) frequency was significantly higher in patients with LOAD than in control subjects (30.7% vs. 21.0%; P = 0.001). The genotypes and allele of rs1982073 in TGF-β1 were also significantly associated with LOAD. The frequency of the TG genotype of rs1982073 was significantly higher in the LOAD patients than in the control subjects (38.1% vs. 27.1%; P = 0.013). The minor allele (G) frequency was significantly higher in patients with LOAD than in control subjects (22.2% vs. 16.7%; P = 0.032). These results suggest that common variants in TGF-β1 might contribute to the development of LOAD in the Chinese population. PMID:26327336

  17. Association Analysis of Vitamin D Receptor Gene Polymorphisms in Chinese Population with Asthma

    Directory of Open Access Journals (Sweden)

    Wen-Liang Fang

    2009-09-01

    Full Text Available Several asthma susceptibility loci, including a region containing the vitamin D receptor (VDR gene located at chromosome 12q, have been identified using genome-wide screens. Our aim is to investigate the association between single nucleotide polymorphisms (SNPs in VDR gene and asthma. One hundred one asthma patients and 206 healthy controls were enrolled in this study. Genotypes were determined using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP strategy and DNA sequencing. The results showed that there was no significant differences in the genotype and allele frequencies of Fok I and Bsm I polymorphisms between asthma patients and the controls in the Chinese Hans (For Fok I: OR = 1.15, 95% CI: 0.82-1.60; for Bsm I: OR = 1.44, 95% CI: 0.87-2.38.It is suggested that Fok I and Bsm I polymorphisms of VDR gene may not significantly contribute to the development of asthma in the Chinese Hans.

  18. Human Leukocyte Antigens-B and -C Loci Associated with Posner-Schlossman Syndrome in a Southern Chinese Population.

    Directory of Open Access Journals (Sweden)

    Jun Zhao

    Full Text Available The etiology of Posner-Schlossman syndrome (PSS remains unknown. The association of human leukocyte antigens (HLA allelic diversity with PSS has been poorly investigated. To evaluate the association of allelic polymorphisms of class I HLA-A, -B and -C and class II HLA-DRB1 and -DQB1 with PSS, 100 unrelated patients with PSS and 128 age- and ethnically matched control subjects were recruited from a southern Chinese Han population. Polymorphisms in exons 2-4 for HLA-A, -B, -C loci, exon 2 for HLA-DRB1 and exons 2,3 for HLA-DQB1 were analyzed for association with PSS at allele and haplotype levels. The allele frequency of HLA-C*1402 in PSS patients was significantly higher than that in controls (P = 0.002, OR = 4.12. This association survived the Bonferroni correction (Pc = 0.04. The allele frequency of HLA-B*1301 in PSS patients was lower than that in the control group (P = 0.003, OR = 0.21, although this association did not survive the Bonferroni correction (Pc = 0.16. In PSS patients, the haplotype frequencies of HLA-A*1101~C*1402 and B*5101~C*1402 were higher than that in controls (P = 0.03, OR = 4.44; P = 0.02, OR = 3.20; respectively, while the HLA-B*1301~C*0304 was lower than that in controls (P = 0.007, OR = 0.23, although these associations did not survive the Bonferroni correction (Pc > 0.16. This study for the first time demonstrated that polymorphisms at the HLA-B and HLA-C loci were nominally associated with PSS in the southern Chinese Han population. Our results suggest that HLA-C*1402, A*1101~C*1402 and B*5101~C*1402 might be risk factors for PSS, whereas HLA-B*1301 plus B*1301~C*0304 might be protective factors against PSS, but even larger datasets are required to confirm these findings. Findings from this study provide valuable new clues for investigating the mechanisms and development of new diagnosis and treatment for PSS.

  19. Social Change and its Potential Impacts on Chinese Population Health

    Directory of Open Access Journals (Sweden)

    Wang, Hong

    2004-12-01

    Full Text Available Within the past 25 years, China has experienced transformation of its economic system from a highly centralized planned economy toward a market oriented economic system. This process has led to massive and rapid changes in all aspects of society with profound effects on the population’s health in the large parts of the country. Along with the material prosperity, the living conditions of Chinese people, such as food, shelter, and sanitation status, have been improving steadily. People have more capability to purchase health related merchandise as well as health services. Overall the health status of most Chinese has improved but there are significant exceptions to this overall conclusion. These exceptions arise from increasing inequity of income, increases in unemployment rates, the decline of health insurance coverage, changes in demography, changes in social value, culture, health related behaviors, and the changes of health care systems.

  20. Social Change and its Potential Impacts on Chinese Population Health

    OpenAIRE

    Wang, Hong

    2004-01-01

    Within the past 25 years, China has experienced transformation of its economic system from a highly centralized planned economy toward a market oriented economic system. This process has led to massive and rapid changes in all aspects of society with profound effects on the population’s health in the large parts of the country. Along with the material prosperity, the living conditions of Chinese people, such as food, shelter, and sanitation status, have been improving steadily. People have mo...

  1. Defining Normal Liver Stiffness Range in a Normal Healthy Chinese Population without Liver Disease

    OpenAIRE

    James Fung; Cheuk-kwong Lee; Monica Chan; Wai-kay Seto; Danny Ka-ho Wong; Ching-lung Lai; Man-fung Yuen

    2013-01-01

    BACKGROUND: For patients with chronic liver disease, different optimal liver stiffness cut-off values correspond to different stages of fibrosis, which are specific for the underlying liver disease and population. AIMS: To establish the normal ranges of liver stiffness in the healthy Chinese population without underlying liver disease. METHODS: This is a prospective cross sectional study of 2,528 healthy volunteers recruited from the general population and the Red Cross Transfusion Center in ...

  2. Prevalence of frailty and contributory factors in three Chinese populations with different socioeconomic and healthcare characteristics

    OpenAIRE

    Woo, Jean; Zheng, Zheng; Leung, Jason; Chan, Piu

    2015-01-01

    Background Frailty predicts dependence and mortality, and is an important health indicator for aging populations. Comparing frailty prevalence between populations of the same ethnicity but different socioeconomic, lifestyle, health and social care systems, and environmental characteristics would address the role of these factors in contributing to frailty. Methods We compare frailty prevalence and contributory factors across three Chinese populations: Beijing rural, Beijing urban, and Hong Ko...

  3. Screening for DJ-1 gene mutation in Chinese Han patients with early-onset Parkinsonism%中国汉族人群早发性帕金森综合征DJ-1基因突变分析

    Institute of Scientific and Technical Information of China (English)

    张海南; 何丹; 张学伟; 郭纪锋; 王春喻; 聂利珞; 谭利明; 严新翔; 唐北沙

    2010-01-01

    目的 探讨中国汉族人群早发性帕金森综合征(early-onset parkinsonism,EOP)DJ-1基因突变情况.方法 应用实时荧光定量聚合酶链反应(PCR)结合DNA直接测序技术对160例EOP患者进行了DJ-1基因突变分析.结果 对DJ-1基因外显子重排突变分析发现,4例新的DJ-1基因外显子2的杂合缺失突变,突变频率2.5%(4/160);DNA直接测序方法未发现DJ-1基因的致病突变,发现了4种已报道的单核苷酸多态(SNP)和1种新的SNP,分别为:IVS4+30 T→G、IVS4+45 G→A、IVS4+46 G→A、IVS5+31 G→A和IVS6+52 C→T.结论 DJ-1基因外显子2的杂合缺失突变扩展了DJ-1基因的突变谱,可能是中国汉族人群EOP DJ-1基因突变的重要形式.%Objective To screen for DJ-1 gene mutation in Chinese Han patients with early-onset Parkinsonism(EOP).Methods Real-time PCR combining DNA direct sequencing wag used to identify mutation in DJ-1 gene in 160 Chinese Han patients with EOP.Results Four novel heterozygous deletion mutations in exon 2 were detected in this group by real-time PCR,suggesting 2.5%(4/160)mutation frequency.PCR-direct sequencing detected four single nucleotide polymorphism(SNP)and 1 novel SNP:IVS4+30 T→G,IVS4+45 G→A,IVS4+46 G→A,IVS5+31 G→A and IVS6+52 C→T.Conclusion Our findings enlarge the mutation spectrum of DJ-1 gene.Heterozygous deletion mutation in exon 2 may be an important mutation type in Chinese Han EOP patients.

  4. Asn563Ser polymorphism of CD31/PECAM-1 is associated with atherosclerotic cerebral infarction in a southern Han population

    Directory of Open Access Journals (Sweden)

    Song YM

    2014-12-01

    Full Text Available Yanmin Song, Qunfang Li, Lili Long, Ning Zhang, Yunhai Liu Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan Province, People’s Republic of China Background: CD31, also called platelet endothelial cell adhesion molecule-1 (PECAM-1, is thought to play a role in the pathological mechanisms of atherosclerosis. Leu125Val polymorphism and elevated plasma levels of soluble PECAM-1 (sPECAM-1 were found to be associated with cerebral infarction. Our aim was to investigate the association between the Asn563Ser polymorphism of CD31/PECAM-1, plasma level of sPECAM-1, and the risk of atherosclerotic cerebral infarction (ACI in the southern Han population of the People’s Republic of China.Subjects and methods: A total of 147 subjects with ACI and 114 controls were enrolled in the study. The Asn563Ser CD31/PECAM-1 polymorphism was detected using the polymerase chain reaction–restriction fragment length polymorphism method. The plasma spECAM-1 level was measured using the enzyme-linked immunosorbent assay method.Results: In this study, statistically significant differences in Asn563Ser genotype and allele distribution were found between the cases and controls (P<0.05. Furthermore, logistic regression analysis showed that the GG genotype is associated with increase in ACI risk (odds ratio =4.862, P<0.001. The plasma level of sPECAM-1 was associated with ACI (odds ratio =1.431, P=0.038. In both the ACI and the control groups, the plasma sPECAM-1 level in subjects with the GG genotype was higher than that in subjects carrying the AA or GA genotype (P<0.05.Conclusion: Our study showed that the Asn563Ser polymorphism of CD31/PECAM-1 gene and elevated plasma sPECAM-1 level are related to ACI risk in the southern Han population of People’s Republic of China. Keywords: genetic polymorphism, CD31, platelet endothelial cell adhesion molecule-1 (PECAM-1

  5. WARM CONGRATULATIONS TO PROFESSOR CHEN QINGRU,QIAN MINGGAO AND HAN DEXIN ON BEING ELECTED AS ACADEMICIANS OF THE CHINESE ACADEMY OF ENGINEERING

    Institute of Scientific and Technical Information of China (English)

    张振康

    1995-01-01

    On June 20, 1995, the Chinese Academy of Engineering Presidet Zhu Guangya informed the Ministry of Coal Industry that with the approval of the State Council, Professor Chen Qingru, Qian Minggao and Hart Dexin from China University of Mining and Technology were elected as academicians of the Chinese Academy of Engineering in May 1995. Professor Chen Qingru was elected for his outstanding contributions in the areas of chemical, metallurgical and materials engineering. Professor Qian Minggao and Hart Dexin were elected for their remarkable contributions in the areas of energy resources and mining engineering.

  6. Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNASer(UCN) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss

    International Nuclear Information System (INIS)

    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/tRNASer(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/tRNASer(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

  7. A Comparison of English Writing of Ethnic Minority Students and Han Chinese Students in a Local University%地方高校少数民族与汉族学生英语写作对比分析

    Institute of Scientific and Technical Information of China (English)

    石常艳; 杨艳

    2011-01-01

    从某地方高校少数民族学生与汉族学生英语写作对比分析显示,少数民族学生主要受第二语言汉语的负迁移影响,因此同汉族学生一样,写作中出现了发展性偏误、汉语负迁移偏误。另外,少数民族学生和以汉语为母语学生英语基本都不扎实,作文中本体层次的偏误较多,而且少数民族语熟练学生在英语学习中,同时受母语和汉语的干扰,但汉语干扰多于母语干扰。%An analysis of English writing of both ethnic minority students and Han students in a local university showsthat ethnic minority students were mainly influenced by Chinese as the second language,so developmental errors and Chinesenegative transfer errors appeared frequently in their English writing.On the other hand,ethnic minority students and students with Chinese as native language were weakin the basic English knowledge,and there are many grammar errors intheir compositions.Furthermore,ethnic minority students who are fluent in their mother language are affected by both mother language and Chinese in their English study,and Chinese transfer is more than that of mother language.

  8. The Alterations of Cortical Volume, Thickness, Surface, and Density in the Intermediate Sporadic Parkinson's Disease from the Han Population of Mainland China

    Science.gov (United States)

    Deng, Xia; Zhou, Meihong; Tang, Chunyan; Zhang, Jie; Zhu, Lei; Xie, Zunchun; Gong, Honghan; Xiao, Xiangzuo; Xu, Renshi

    2016-01-01

    Many symptoms of sporadic Parkinson's disease (sPD) can't be completely explained by the lesion of simple typical extrapyramidal circuit between striatum and substantia nigra. Therefore, we investigated the alteration of cortical volume, thickness, surface, and density in the intermediate sPD from the Han population of Mainland China in order to find the new pathological brain regions associated with the complex clinical manifestations of sPD. The cortical volume, thickness, surface and density were examined using the voxel-based cortical morphometry and corticometry on magnetic resonance image (MRI) in 67 intermediate sPD and 35 controls, the multiple adjusted comparisons analysis of all MRI data were employed to assess the relationships between the cortical morphometric alteration in the specific brain regions and sPD. Results showed that a significantly shrunk volume, thinned thickness and enlarged or reduced surface of cortex in some specific brain regions were closely associated with sPD, but all cortical densities were not different. The majority of morphometric alteration of hemisphere cortex was symmetric, but that in the left hemisphere was more significant. The cortical morphometric alterations in the frontal, temporal, parietal, occipital and limbic lobe, cerebellum, caudate, and thalamus were closely related to the clinical neural dysfunction (Clinical manifestations) of sPD. Our data indicated that the deficits of extensive brain regions involved in the development of sPD, resulted in a series of correspondent complex clinical manifestations in the disease. PMID:27536237

  9. Correlation between leptin receptor gene polymorphism and type 2 diabetes in Chinese population: a meta-analysis

    OpenAIRE

    He, Miao; Qian-xi FU; Li, Hui; Ya-na JIN; Tang, Xiao-Jun

    2015-01-01

    Objective To evaluate the correlation between leptin receptor gene (LEPR) polymorphism and type 2 diabetes (T2DM) in Chinese population. Methods The literature concerning the correlation between LEPR polymorphism and T2DM in Chinese population were searched from Chinese databases (CNKI, VIP, WanFang, CBM) with "leptin receptor gene" and "type 2 diabetes" as keywords, and from English databases (PubMed, Web of Knowledge, EBSCO) with "leptin receptor gene", "LEPR", "OBR", "OB-R", "type 2 diabet...

  10. [Opinions of Chinese demographers on population development in China and in the world].

    Science.gov (United States)

    Tomala, K

    1983-01-01

    The authors analyze problems connected with demograhic policy and the important stages of population development on the basis of recently published Chinese data. Ideological and political aspects of population policy in China are discussed; it is stated that the country's leadership considers a quick rise in population to be a regularity in the development of a socialist society. Thus, consideration is given to arising social problems: provision of food, dwelling places, rearing and education, and creation of new places of work. This article explains why China presently feels that the solutioon to the population problem is of worldwide importance and could play a role in the country's process of modernization. In this connection, some new theories of Chinese population development are discussed and analyzed. Chinese scholars state that as China has more than 22% of the world population, this makes them necessarily responsible for a reduction in world population. A large section of this paper id devoted to the drastic population policy begun in 1978 and represented by the slogan of "families with 1 child". Optimum for popluation as well as discussion of food resources, ecologic equilibrium, water resources, and arable land are also mentioned. This is the basis for showing that China's population should not be more than 700 million. Difficulties concerning this population policy are discussed, especiallty in the rural areas. The implementation of principles of population policy are imperative for any country, and particularly for China. The question arises as to whether such a drastic population policy is the only manner for China to accomplish their goals. Results of the 3rd population census, also presented in this paper, have become the basis for a comprehensive research work which will serve to establish indicators for China's further development. (author's modified) PMID:12266193

  11. Evaluation of GWAS-identified SNPs at 6p22 with neuroblastoma susceptibility in a Chinese population.

    Science.gov (United States)

    He, Jing; Zhang, Ruizhong; Zou, Yan; Zhu, Jinhong; Yang, Tianyou; Wang, Fenghua; Xia, Huimin

    2016-02-01

    Previous genome-wide association studies (GWASs) have reported that three single nucleotide polymorphisms (SNPs) (rs6939340 A>G, rs4712653 T>C, and rs9295536 C>A) located at 6p22 locus were associated with neuroblastoma susceptibility for Caucasian descent. We conducted this hospital-based case-control study with 201 neuroblastoma patients and 531 controls to investigate the association between these three SNPs in the FLJ22536 gene with neuroblastoma susceptibility in the Chinese Han population. The odds ratio (OR) and 95 % confidence interval (CI) were calculated to estimate the strength of the association using unconditional logistic regression model. We found that the rs6939340 A allele carriers were associated with significantly decreased neuroblastoma susceptibility (AG vs. GG: adjusted OR = 0.54, 95 % CI = 0.38-0.77; AA vs. GG: adjusted OR = 0.49, 95 % CI = 0.25-0.93; and AA/AG vs. GG: adjusted OR = 0.53, 95 % CI = 0.38-0.74) after adjustment for age and gender. The protective association between variant allele and neuroblastoma susceptibility was also observed for the rs4712653 and rs9295536 polymorphisms. Moreover, we found that subjects carrying one or more protective genotypes had a much lower neuroblastoma susceptibility than non-carriers (adjusted OR = 0.60, 95 % CI = 0.43-0.83). Our study verified that the associations between all of the three SNPs in the 6p22 locus are associated with neuroblastoma susceptibility in the Chinese subjects. Further prospective multicenter studies with different ethnicities and larger sample size are needed to validate our findings. PMID:26307394

  12. Polymorphisms in VEGF-A are associated with COPD risk in the Chinese population from Hainan province

    Indian Academy of Sciences (India)

    Yipeng Ding; Huan Niu; Yizhou Li; Ping He; Quanni Li; Yanhong Ouyang; Min Li; Zhigao Hu; Youqing Zhong; Pei Sun; Tianbo Jin

    2016-03-01

    In this study, we examined and validated how common variants contribute to susceptibility to chronic obstructive pulmonarydisease (COPD) in the Han Chinese population. Here, we genotyped 18 nucleotide polymorphisms and evaluated their associationwith COPD using chi-square test and genetic model analysis (246 COPD patients and 350 controls), and found three SNPs that might cause a predisposition to COPD. Both rs3025030 and rs3025033 are located on chromosome 6 in VEGF-A. We found one risk allele ‘C’ from rs3025030 and another ‘G’ from rs3025033 using the log-additive model (OR 1.40; 95% CI1.05–5.96; P = 0.022), (OR 1.38; 95% CI 1.03–1.84; P = 0.03). We also found another risk allele ‘A’ of rs9296092 in generegion ZBTB9-BAK1 by the allele model (OR 2.63; 95% CI 1.27–5.45; = 0.0078), (adjusted OR 3.53; 95% CI 1.12–11.11; = 0.031).We found a risk haplotype ‘CG’ associated with the risk of COPD (OR 1.39; 95% CI 1.04–1.86; = 0.028). Ourresults when compared with previous studies showed significant association between VEGF-A polymorphism and COPD. Wealso identified rs9296092 as a risk factor for COPD.

  13. Genetic diversity and population structure of Korean and Chinese soybean [Glycine max (L.) Merr.] accessions

    Science.gov (United States)

    Korean and Chinese cultivated soybean [Glycine max (L.) Merr.] populations are major soybean gene pools. Information has been reported comparing genetic diversity between soybeans from the two countries using an unequal number of accessions and only 6 to 35 genetic markers. This study compares diffe...

  14. Physical Activity, Adiposity, and Diabetes Risk in Middle-Aged and Older Chinese Population

    NARCIS (Netherlands)

    Qin, Li; Corpeleijn, Eva; Jiang, Chaoqiang; Thomas, G. Neil; Schooling, C. Mary; Zhang, Weisen; Cheng, Kar Keung; Leung, Gabriel M.; Stolk, Ronald P.; Lam, Tai Hing

    2010-01-01

    OBJECTIVE- Physical activity may modify the association of adiposity with type 2 diabetes. We investigated the independent and joint association of adiposity and physical activity with fasting plasma glucose, impaired fasting glucose, and type 2 diabetes in a Chinese population. RESEARCH DESIGN AND

  15. Prevalence of diabetes among Han, Manchu and Korean ethnicities in the Mudanjiang area of China: a cross-sectional survey

    Directory of Open Access Journals (Sweden)

    Feng Yan

    2012-01-01

    Full Text Available Abstract Background Rapid socioeconomic development resulting in changing lifestyles and life expectancy appears to be accompanied by an increasing prevalence of type 2 diabetes. Genetic predisposition related to ethnicity is a major determinant of diabetes risk. This study investigates the prevalences of diabetes and prediabetes in different ethnic populations residing in the Mudanjiang area located in the northeast of China. Methods A cross-sectional survey was carried out among Han, Manchu and Korean Chinese aged 20 years or older. Diabetes and prediabetes were diagnosed using standard oral glucose tolerance tests. Results The prevalence of diabetes in Manchu (8.39% and Korean Chinese (9.42% was significantly lower than that in Han (12.10%. The prevalence of prediabetes was 18.96%, 19.36% and 20.47% in Han, Manchu and Korean populations, respectively. Korean Chinese had a lower prevalence of isolated impaired fasting glucose and higher prevalence of isolated impaired glucose tolerance than the other two ethnic groups. Most patients with diabetes, especially ethnic minority patients, were undiagnosed. A multiple logistic regression analysis showed that age, family history of diabetes, control of diet, self-monitoring of weight, central obesity, increased heart rate, hypertension, elevated plasma triglyceride level, elevated plasma low-density lipoprotein cholesterol, and Han ethnicity were significantly associated with an increased risk of diabetes. Further, Manchu Chinese were found to have the lowest risk of diabetes. Conclusions Our study indicates that diabetes is a major public health problem in the Mudanjiang area of China. Ethnicity plays a role in the different prevalences of diabetes and prediabetes among the three ethnic groups. Diabetes is less prevalent among Manchu Chinese compared with Han and Korean Chinese.

  16. Immunogenetic Study in Chinese Population with Ankylosing Spondylitis: Are There Specific Genes Recently Disclosed?

    OpenAIRE

    Jiayu Zhai; Ju Rong; Qiuxia Li; Jieruo Gu

    2013-01-01

    Purpose. Ankylosing spondylitis (AS) is a systemic, autoimmune disease resulting in the destruction of the affected joints. Over the past 5 years, several new genes or genetic regions associated with AS have been identified in the Chinese population. This paper aims to discuss the major findings and related potential mechanisms of these studies in our population. Recent Findings. In recent years, due to the rapid advances in computational genetics and technology, there has been an increasing ...

  17. Genetic Diversity and Population Demography of the Chinese Crocodile Lizard (Shinisaurus crocodilurus) in China

    OpenAIRE

    Huayuan Huang; Hui Wang; Linmiao Li; Zhengjun Wu; Jinping Chen

    2014-01-01

    The Chinese crocodile lizard Shinisaurus crocodilurus is a critically endangered species, listed in Appendix II of CITES. Its populations and habitat in China have undergone significant changes in recent years. Understanding the genetic variability and phylogeography of this species is very important for successful conservation. In this study, samples were taken from 11 wild ponds and two captive populations in China. We sequenced mitochondrial CYTB, partial ND6, and partial tRNA-Glu and geno...

  18. Breast cancer risk assessment using genetic variants and risk factors in a Singapore Chinese population

    OpenAIRE

    Lee, Charmaine Pei Ling; Irwanto, Astrid; Salim, Agus; Yuan, Jian-Min; Liu, Jianjun; Koh, Woon Puay; Hartman, Mikael

    2014-01-01

    Introduction Genetic variants for breast cancer risk identified in genome-wide association studies (GWAS) in Western populations require further testing in Asian populations. A risk assessment model incorporating both validated genetic variants and established risk factors may improve its performance in risk prediction of Asian women. Methods A nested case-control study of female breast cancer (411 cases and 1,212 controls) within the Singapore Chinese Health Study was conducted to investigat...

  19. The impact of breast cancer-specific birth cohort effects among younger and older Chinese populations.

    Science.gov (United States)

    Sung, Hyuna; Rosenberg, Philip S; Chen, Wan-Qing; Hartman, Mikael; Lim, Wei-Yen; Chia, Kee Seng; Wai-Kong Mang, Oscar; Tse, Lapah; Anderson, William F; Yang, Xiaohong R

    2016-08-01

    Historically low breast cancer incidence rates among Asian women have risen worldwide; purportedly due to the adoption of a "Western" life style among younger generations (i.e., the more recent birth cohorts). However, no study has simultaneously compared birth cohort effects between both younger and older women in different Asian and Western populations. Using cancer registry data from rural and urban China, Singapore and the United States (1990-2008), we estimated age-standardized incidence rates (ASR), annual percentage change (EAPC) in the ASR, net drifts, birth cohort specific incidence rates and cohort rate ratios (CRR). Younger (30-49 years, 1943-1977 birth cohorts) and older women (50-79 years; 1913-1957 birth cohorts) were assessed separately. CRRs among Chinese populations were estimated using birth cohort specific rates with US non-Hispanic white women (NHW) serving as the reference population with an assigned CRR of 1.0. We observed higher EAPCs and net drifts among those Chinese populations with lower ASRs. Similarly, we observed the most rapidly increasing cohort-specific incidence rates among those Chinese populations with the lowest baseline CRRs. Both trends were more significant among older than younger women. Average CRRs were 0.06-0.44 among older and 0.18-0.81 among younger women. Rapidly rising cohort specific rates have narrowed the historic disparity between Chinese and US NHW breast cancer populations particularly in regions with the lowest baseline rates and among older women. Future analytic studies are needed to investigate risk factors accounting for the rapid increase of breast cancer among older and younger women separately in Asian populations. PMID:26992019

  20. Association of variants in CDKN2A/2B and CDKAL1 genes with gestational insulin sensitivity and disposition in pregnant Han Chinese women

    OpenAIRE

    Mei, Jie; Liao, Shunyao; Liu, Yunqiang; Tan, Yuande; Wang, Hailian; Liang, Yaming; Dong, Xianjue; Song, Wenzhong; Gan, Lu; Deng, Shaoping

    2015-01-01

    Aims/Introduction Variants in cell cycle regulation genes, CDKAL1 and CDKN2A/2B, have been suggested to be associated with type 2 diabetes, and also play a role in insulin procession in non-diabetic European individuals. Rs7754580 in CDKAL1 and rs7020996 in CDKN2A/2B were found to be associated with gestational diabetes in Chinese individuals. In order to understand the metabolism mechanism of greatly upregulated maternal insulin signaling during pregnancy and the pathogenesis of gestational ...

  1. Association of polymorphism in rs2736990 of the α-synuclein gene with Parkinson′s disease in a Chinese population

    Directory of Open Access Journals (Sweden)

    Fenghua Pan

    2013-01-01

    Full Text Available Background and Objective: Previous genetic studies in Parkinson′s disease (PD have provided conclusive evidence for association of genes with strong biological rationale for PD. Recently several studies in different populations have found a strong association between idiopathic PD and the single-nucleotide polymorphism (SNP rs2736990, located within an intron of the α-synuclein (SNCA gene. In this study, we aimed to verify these findings and to explore the characteristic of the association in a subset of Chinese Han PD patients. Materials and Methods: A total of 515 unrelated patients with sporadic PD and 450 healthy ethnically matched control subjects were recruited consecutively for the study. Patients and healthy controls were genotyped for SNCA rs2736990 variant by polymerase chain reaction - ligase detection reaction. Results: Our data showed a significant association between the rs2736990 polymorphism and PD, the frequency of the allele C in PD patients was significantly higher than that in controls (P = 0.017, OR = 1.26, 95% confident intervals (CI =1.04-1.51. The distribution of C > T genotypes was different between patients and controls (P = 0.027. Furthermore, allele C of SNP rs2736990 in early-onset PD was significantly more frequent than that in healthy controls (P = 0.007, odds ratio = 1.60, 95% CI = 1.13-2.26. Conclusions: Our study demonstrated that SNCA rs2736990 C > T polymorphism was associated with susceptibility to PD in Chinese Han population. Further studies are needed to replicate the association we found.

  2. Population and conservation strategies for the Chinese crocodile lizard (Shinisaurus crocodilurus in China

    Directory of Open Access Journals (Sweden)

    Huang, C. M.

    2008-12-01

    Full Text Available The Chinese crocodile lizard (Shinisaurus crocodilurus is an unusual anguimorph lizard found mainly in China. Transect surveys estimate a total wild population of about 950 individuals in China. This is a dramatic decrease compared with previous surveys. At present, there are only eight areas of distribution. No Chinese crocodile lizards have been found in four former areas for several years. Investigations have demonstrated that poaching has contributed directly to the population decline. Habitat destruction, and in particular water flow, is the second most important factor. Mining, small scale dam construction, electro-fishing and poisoning of fish in the stream also contribute to population decline. Therefore, educating local people, punishing illegal poaching, and strengthening scientific research are urgent.

  3. [Polymorphism and forensic applications of miniSTR loci D10S1248, D2S441, D1S1677, D9S1122, and D10S1435 in Northwestern Han population].

    Science.gov (United States)

    Bai, Xue; Cong, Bin; Li, Shu-Jin; Guo, Xia; Li, Xia

    2009-04-01

    To investigate the polymorphism, genetic stability and the value for analysis degraded samples of D10S1248/ D2S441/D1S1677/D9S1122/D10S1435 five loci in northwestern Han population. The lengths of fragments were analyzed by fluorescence PCR and ABI310 Genetic Analyzer. Samples from 154 unrelated northwestern Han individuals, 10 genealogies and 10 highly degraded specimens were genotyped. Among the 154 unrelated northwestern Han individuals, we discovered 8, 7, 7, 6, and 7 alleles in the five miniSTR loci, respectively. The frequency distributions in the loci showed no deviations from Hardy-Weinberg equilibrium expectations. The H is at 0.662-0.792, PD is at 0.869-0.915, PE is at 0.382-0.585, and PIC is at 0.650-0.750.The research of genetic stability and the value for analysis degraded sample indicated that the five miniSTR loci had high genetic stability and could analysis the degraded samples effectively. Therefore, these 5 miniSTR loci can be used as genetic markers of Northwestern Han populations in forensic practice involving individual identification and paternity testing from degraded DNA samples. PMID:19586890

  4. 华法林药物遗传学基因CYP2C9和VKORC1单核苷酸多态性在广东汉族人群的分布研究%The study of single nucleotide polymorphisms distribution of CYP2C9 and VKORC1 associated with pharmacogenetics of warfarin in Guangdong Han Chinese

    Institute of Scientific and Technical Information of China (English)

    耿启彬; 蔡佳琳; 黄思玲; 钟林; 孙莹; 杨学习

    2012-01-01

      Objective To determined the frequencies of rs1799853, rs1057910 in CYP2C9 and rs9923231 in VKORC1, two warfarin related genes, in Guangdong Han Chinese population. Methods By Sequenom MassArray® iPLEX GOLD System, rs1799853, rs1057910 and rs9923231 were genotyped in 215 individuals of Guangdong Han Chinese. The data were analyzed with SPSS13.0 to obtain the genotype frequencies and the allele frequencies. Results No polymorphism of rs1799853 and rs9923231 were found in the present population. Only genotype CC in rs1799853 and CT in rs9923231 was detected. There were two genotypes in rs1057910, AA and AC. The frequency of AA was 0.921 and AC was 0.079. The frequency of allele A was 0.9605 and C was 0.0395. Conclusion Our study recommends that the warfarin SNP test could mainly depend on rs1057910 in Guangdong Han Chinese owing to that there were no polymorphism distribution of in rs1799853 and rs9923231 in this population.%  目的探讨细胞色素P450(cytochrome P450, CYP450)家族中CYP2C9的单核苷酸多态性(single nucleotide polymorphisms, SNP)位点rs1057910和rs1799853以及维生素K环氧化物还原酶复合物亚基1(vitamin K epoxide reductase complex subunit 1, VKORC1)的rs9923231 SNP位点在广东汉族的分布,为华法林(warfarin)个体化用药(personalized medicine)提供循证医学依据.方法利用Sequenom MassArray® iPLEX GOLD系统对215例广东地区人群的rs1057910,rs1799853和rs9923231三个位点进行基因分型,并分析各基因型分布频率.结果 rs1799853和rs9923231在广东汉族中无多态性分布,分别只有CC基因型和CT基因型.rs1057910在广东汉族中有两种基因型AA和AC,分布频率分别为0.921和0.079;等位基因A的频率为0.9605,C的频率为0.0395.结论在本研究中由于rs1799853和rs9923231在广东汉族中无多态性分布,基于本研究数据建议广东汉族华法林药物的检测位点应以rs1057910为主.

  5. Unexpected relationships of substructured populations in Chinese Locusta migratoria

    Directory of Open Access Journals (Sweden)

    Ji Ya-Jie

    2009-06-01

    Full Text Available Abstract Background Highly migratory species are usually expected to have minimal population substructure because strong gene flow has the effect of homogenizing genetic variation over geographical populations, counteracting random drift, selection and mutation. The migratory locust Locusta migratoria belongs to a monotypic genus, and is an infamous pest insect with exceptional migratory ability – with dispersal documented over a thousand kilometers. Its distributional area is greater than that of any other locust or grasshopper, occurring in practically all the temperate and tropical regions of the eastern hemisphere. Consequently, minimal population substructuring is expected. However, in marked contrast to its high dispersal ability, three geographical subspecies have been distinguished in China, with more than nine being biologically and morphologically identified in the world. Such subspecies status has been under considerable debate. Results By multilocus microsatellite genotyping analysis, we provide ample genetic evidence for strong population substructure in this highly migratory insect that conforms to geography. More importantly, our genetic data identified an unexpected cryptic subdivision and demonstrated a strong affiliation of the East China locusts to those in Northwest/Northern China. The migratory locusts in China formed three distinct groups, viz. (1 the Tibetan group, comprising locusts from Tibet and nearby West China high mountain regions; this is congruent with the previously recognized Tibetan subspecies, L. m. tibetensis; (2 the South China group, containing locusts from the Hainan islands; this corresponds to the Southeast Asia oriental tropical subspecies L. m. manilensis; (3 the North China group, including locusts from the Northwest and Northern China (the Asiatic subspecies L. m. migratoria, Central China and Eastern China regions. Therefore, the traditional concept on Locusta subspecies status established from

  6. The application of Han Dynasty cultural elements to modern product design

    OpenAIRE

    Chen, L.; KANG, J; Zhang, L.; Wang, M.; Wang, D

    2014-01-01

    Chinese Han Culture, as Chinese nation's "core culture", is the cultural symbol of Chinese nation, and played an important role in the history of Chinese cultural development, even in the history of world cultural development. Designing in the Han Dynasty, while inheriting Chinese traditional culture, but also having its unique style, are appreciated and respected by the people nowadays. In a modern society where the design is becoming more diversified, the innovative design based on traditio...

  7. Melanocortin-1 receptor gene variants in four Chinese ethnic populations

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    There is strong relationship between melanocortin-1 receptor (MC1R) gene variants and human hair color and skin type.Based on a sequencing study of MC1R gene in 50 individuals from the Uygur,Tibetan,Wa and Dai ethnic populations,we discuss the occurrence of 7 mc1r variants consisting of 5 nonsynonymous sites (Val60Leu,Arg67Gln,Val92Met,Arg163Gln and Ala299Val) and 2 synonymous sites (C414T and A942G),among which C414T and Ala299Val were reported for the first time.Confirmation and analysis were also made of 122 individuals at three common point mutations (Val92Met,Arg163Gln,A942G) using PCR-SSCP.The frequency of Arg163Gln variant varies in the four ethnic populations,with percentage of 40%,85.0%,66.2% and 72.7%,respectively,while those of Val92Met and A942G are roughly similar in these four populations.The different environments,migration and admixture of various ethnic groups in China might have impact on the observed frequency of Arg163Gln.

  8. A population-based study to investigate host genetic factors associated with hepatitis B infection and pathogenesis in the Chinese population

    Directory of Open Access Journals (Sweden)

    O'Brien Stephen J

    2008-01-01

    Full Text Available Abstract Background Hepatitis B virus (HBV infection is a significant public health problem that may lead to chronic liver disease, cirrhosis, and hepatocellular carcinoma (HCC. Approximately 30% of the world's population has been infected with HBV and approximately 350 million (5–6% are persistent carriers. More than 120 million Chinese are infected with HBV. The role of host genetic factors and their interactions with environmental factors leading to chronic HBV infection and its complications are not well understood. We believe that a better understanding of these factors and interactions will lead to more effective diagnostic and therapeutic options. Methods/Design This is a population-based, case-control study protocol to enroll 2200 Han