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

    2013-01-01

    Interleukin-18 gene promoter polymorphisms are potential risk factors for ischemic cerebrovascular disease, and the-607C al ele may increase ischemic stroke risk in the Han Chinese population. In the present study, we recruited 291 patients with ischemic cerebrovascular disease from the Affi-liated Hospital of Qingdao University Medical Col ege, China, and 226 healthy controls. Both pa-tients and controls were from the Han population in northern China. Immunoresonance scattering assays detected increased serum amyloid A protein, C-reactive protein, and interleukin-18 levels in ischemic cerebrovascular disease patients compared with healthy controls. Analysis of the-607C/A (rs1946518) polymorphism in the interleukin-18 gene promoter showed ischemic cerebrovascular disease patients exhibited increased frequencies of the CC genotype and C al eles than healthy controls. Genotype and al ele frequencies of the interleukin-18-137G/C (rs187238) polymorphism and the-13T/C (rs11024595) polymorphism in the 5'-flanking region of serum amyloid A, showed no significant difference between the two groups. Multivariate logistic regression analysis on the interleukin-18 promoter A/C genetic locus, for correction of age, gender, history of smoking, hyper-tension, diabetes mel itus, hypercholesteremia, and an ischemic stroke family history, showed ischemic cerebrovascular disease risk in individuals without the A al ele (C homozygotes) was 2.2-fold greater than in A al ele carriers. Overal , our findings suggest that the-13T/C (rs11024595) polymorphism in the 5′-flanking region of serum amyloid A has no correlation with ischemic cere-brovascular disease, but the C al ele of the-607C/A (rs1946518) polymorphism in the interleukin-18 promoter is a high-risk factor for ischemic cerebrovascular disease in the Han population of northern China. In addition, the A al ele is likely a protective gene for ischemic cerebrovascular disease.

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

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

    2016-05-01

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

  3. ANALYSIS ON GENETIC POLYMORPHISM OF 6 STR LOCI ON CHROMOSOME 12 IN CHINESE HAN POPULATION

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    Objective To analyze the genetic polymorphism of 6 STR loci (D12S358, D12S1675, D12S1663, D12S1697, D12S1725 and D12S1613) on chromosome 12 in Chinese Han population. Methods EDTA-blood specimens were collected from 153 unrelated individuals of Chinese Han population in Shaanxi province. Allele and genotype frequencies for the 6 STR loci were estimated and statistical parameters of polymorphism were calculated. Results 8 alleles and 18 genotypes, 10 alleles and 17 genotypes, 9 alleles and 15 genotypes, 12alleles and 29 genotypes, 12 alleles and 31 genotypes, 8 alleles and 11 genotypes were observed at D12S358, D12S1675, D12S1663, D12S1697, D12S1725 and D12S1613, respectively. No deviations of the observed allele frequency from Hardy-weinberg equilibrium expectations were found for any of these loci. The Heterozygotes of these 6 loci were 78.89%, 66.10%, 54.95%, 79.10%, 71.98% and 59.48%, respectively. It indicated the high genetic polymorphism of the loci in Chinese Han population. Conclusion The 6 STR loci belonged to the genetic marker system of high discriminutesation and high information in Chinese Han population and can be used in the study of gene-related diseases.

  4. Association of tumor necrosis factor polymorphisms with susceptibility to ulcerative colitis in Chinese Han population

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    曹倩

    2006-01-01

    Objective To investigate the association between tumor necrosis factor(TNF) promoter polymorphisms and susceptibility to ulcerative colitis (UC) in the Chinese Han population. Methods Blood samples from 110 unrelated UC patients and 292 healthy controls from Zhejiang Province, Eastern China were studied. Genotyping for 6 common TNF promoter polymorphisms (TNF-

  5. 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.

  6. Genetic Analysis of 15 STR Loci in Chinese Han Population from West China

    Institute of Scientific and Technical Information of China (English)

    Ya-Jun Deng; Jiang-Wei Yan; Xiao-Guang Yu; Yuan-Zhe Li; Hao-Fang Mu; Yan-Qing Huang; Xiao-Tie Shi; Wei-Min Sun

    2007-01-01

    Allele frequencies for 15 short tandem repeat (STR) loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA) were obtained from 7,636 unrelated individuals of Chinese Han population living in Qinghai and Chongqing, China. Totally 206 alleles were observed, with the corresponding allele frequencies ranging from 0.0001-0.4982. Chi-square test showed that all of the STR loci agreed with the Hardy-Weinberg equilibrium. We also compared our data with previously published population data of other ethnics or areas. The results are valuable for human identification and paternity testing in Chinese Han population.

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

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

    2016-01-01

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

  8. Association of the CTLA4 gene with Graves' disease in the Chinese Han population.

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    Shuang-Xia Zhao

    Full Text Available To determine whether genetic heterogeneity exists in patients with Graves' disease (GD, the cytotoxic T-lymphocyte associated 4 (CTLA-4 gene, which is implicated a susceptibility gene for GD by considerable genetic and immunological evidence, was used for association analysis in a Chinese Han cohort recruited from various geographic regions. Our association study for the SNPs in the CTLA4 gene in 2640 GD patients and 2204 control subjects confirmed that CTLA4 is the susceptibility gene for GD in the Chinese Han population. Moreover, the logistic regression analysis in the combined Chinese Han cohort revealed that SNP rs231779 (allele frequencies p = 2.81x10(-9, OR = 1.35, and genotype distributions p = 2.75x10(-9, OR = 1.42 is likely the susceptibility variant for GD. Interestingly, the logistic regression analysis revealed that SNP rs35219727 may be the susceptibility variant to GD in the Shandong population; however, SNP, rs231779 in the CTLA4 gene probably independently confers GD susceptibility in the Xuzhou and southern China populations. These data suggest that the susceptibility variants of the CTLA4 gene varied between the different geographic populations with GD.

  9. [Mode and size of HPA-typed platelet apheresis donor bank in Chinese Han population].

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    Dai, Yu-Dong

    2010-08-01

    This study was purposed to determine the mode and size of human platelet antigens (HPA) typed platelet apheresis donor bank. The published data of HPA distribution collected from Chinese Han population of 16 provinces were analyzed. The combined data were tested with the Hardy-Weinberg equilibrium. The results showed that the bb homozygote was not detected in HPA-1, -4, -6, -10, and b gene was not found in HPA-7-9, 11-14, -16. There were 648 combined HPA 1-16 genotypes in Chinese Han population, and the cumulative frequency of 42 combinations higher than 0.001 were 0.9763. The highest frequency (0.2012) in combination was HPA-(7-8-9-11-12-13-14-16) aa - (1-4-5-6-10) aa-2aa-3ab-15ab. The probability of HPA dual antigen mismatch in HPA-15, -3 and -2 was higher than the 0.1, and the probability in the HPA-1, -5, and -6 was between 0.01 - 0.1. The probability of full-match in HPA1-16 antigens was 0.3195 in Chinese Han population after the random blood transfusion. According to the curve drawn by donor number (N) versus frequency (F), the regression equation LogN = -0.4394 x Ln (F) +0.4324 was derived at P = 95%. If the derived frequency (product of HPA frequency and ABO frequency) is 0.005, then the N should be 576.07 at least in Chinese Han population. It is concluded that the mode of regional, multi-center database of HPA-typed platelet apheresis donor bank may be acceptable in Chinese Han population, and the suitable number of HPA-typed platelet donor in one bank may be 600. Therefore, the bank can be used to treat the platelet transfusion refractoriness (PTR) caused by HPA-15, 3 and 2 mismatch mainly, and can be expanded effectively in similar genetic background to deal with the low-frequency HPA antigens mismatch. The number of HPA-typed platelet apheresis donor influences not only on the frequency of HPA, but also on the frequency of ABO group.

  10. 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.

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

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

    2016-08-01

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

  12. 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.

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

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

    2016-01-01

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

  14. 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...

  15. Correlation between IL-6 gene polymorphisms and sepsis of Chinese Han population in Henan province

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    Meng-xuan YANG

    2011-01-01

    Full Text Available Objective To investigate the correlation between-572G/C and-174G/C polymorphism of IL-6 gene and sepsis of Chinese Han population in Henan province.Methods A population-based case-control study involving 99 patients with sepsis and 260 health volunteers(control was carried out.The-572C/G and-174G/C polymorphism of IL-6 gene was analyzed by polymerase chain reaction and restriction fragment-length polymorphism(PCR-RFLP technique.Results The genotype frequencies of all 359 cases were in Hardy-Weinberg equilibrium(P>0.05.No polymorphism was found in-174 site(GG genotype only,while alleles G,C and genotypes GG,GC,CC were found in-572 site,and no significant difference of allele frequency existed between patients and controls.Unconditional logistic regression analysis showed-G572C polymorphism was related to sepsis,the susceptibility to sepsis of patients with GG genotype was significantly higher than that of patients with CC genotype(OR=2.411,95% CI=1.045-5.562,P=0.039 after age and gender correction.Conclusions The-G572C polymorphism of IL-6 gene associates with sepsis,and the GG is the risk genotype of sepsis.There maybe no polymorphism in-G174C of IL-6 gene of Chinese Han population in Henan province.

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

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    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.

  17. Association between Polymorphism of Interleukin-23 Receptor and Hashimoto's Thyroiditis in Chinese Han Population of Shandong

    Institute of Scientific and Technical Information of China (English)

    Zhi-Hua Li; Jie Han; Yu-Fei Wang; Jun Dai; Hui Zhang; Chun-Xia Li; Qun Ma

    2015-01-01

    Objective:The interleukin-23 receptor (IL-23R) has been shown to be associated with autoimmune diseases in many different populations.This study aimed to investigate the association between IL-23R gene polymorphism and susceptibility to Hashimoto's thyroiditis (HT) in Chinese Han population of Shandong.Methods:A case-control cohort study was performed in 145 HT patients from First People's Hospital of Jining between February 2010 to October 2013 and 150 healthy controls.Two single nucleotide polymorphisms located in the promoter region ofIL-23R gene (rs 17375018 and rs7517847) were examined by polymerase chain reaction-restriction fragment length polymorphism analysis.Hardy-Weinberg equilibrium was performed using the Chi-square test.Genotype frequencies were estimated by direct counting,and allele and genotype frequencies between patients and controls were analyzed by the Chi-square test.Results:The rs 17375018 GG genotype and the G allele were significantly increased in HT patients compared with healthy controls (P =0.034 and P =0.013,respectively).No association was identified between HT patients and healthy controls in rs7517847.Conclusion:The study demonstrated that polymorphism of IL-23R gene rs17375018 is highly associated with HT in Chinese Han population of Shandong,suggesting that IL-23R gene polymorphism (rs 17375018 G) may play a critical role in susceptibility to HT.

  18. 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.

  19. Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population.

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    Zhiyuan Wu

    Full Text Available BACKGROUND: Moyamoya disease (MMD is an uncommon cerebrovascular disorder characterized by progressive occlusion of the internal carotid artery causing cerebral ischemia and hemorrhage. Genetic factors in the etiology and pathogenesis of MMD are being increasingly recognized. Previous studies have shown that the RNF213 gene was related to MMD susceptibility in the Japanese population. However, there is no large scale study of the association between this gene and MMD in the Chinese Han population. Thus we designed this case-control study to validate the R4810K mutation and to define the further spectrum of RNF213 mutations in Han Chinese. METHODOLOGY/PRINCIPAL FINDINGS: Genotyping of the R4810K mutation in the RNF213 gene was performed in 170 MMD cases and 507 controls from a Chinese Han population. The R4810K mutation was identified in 22 of 170 MMD cases (13%, including 21 heterozygotes and a single familial homozygote. Two of the 507 controls (0.4% were heterozygous R4810K carriers. The R4810K mutation greatly increased the risk for MMD (OR = 36.7, 95% CI: 8.6~156.6, P = 6.1 E-15. The allele frequency of R4810K was significantly different between patients with ischemia and hemorrhage (OR = 5.4, 95% CI: 1.8~16.1, P = 0.001. Genomic sequencing covering RNF213 exon 40 to exon 68 also identified eight other non-R4810K variants; P4007R, Q4367L, A4399T, T4586P, L4631V, E4950D, A5021V and M5136I. Among them A4399T polymorphism was found in 28/170 cases (16.5% and 45/507 controls (8.9% and was associated with MMD (OR = 2.0, 95% CI: 1.2~3.3, P = 0.004, especially with hemorrhage (OR = 2.8, 95% CI: 1.2~6.5, P = 0.014. CONCLUSIONS: RNF213 mutations are associated with MMD susceptibility in Han Chinese. The ischemic type MMD is particularly related to the R4810K mutation. However, A4399T is also a susceptible variant for MMD, primarily associated with hemorrhage. Identification of novel variants in the RNF213 gene further highlights the genetic

  20. Genetic susceptibility to ulcerative colitis in the Chinese Han ethnic population: association with TNF polymorphisms

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    CAO Qian; ZHU Qin; WU Min-liang; HU Wei-ling; GAO Min; SI Jian-min

    2006-01-01

    Background Tumor necrosis factor α (TNFα) is an important proinflammatory cytokine that has been implicated in the pathogenesis of inflammatory bowel disease (IBD). Recent studies have evaluated the role of TNF promoter polymorphisms in IBD, whereas the data are inconsistent. Trans-racial mapping in an ethnically distinct but homogenous population may help clarify these associations. We investigate the association between TNF promoter polymorphisms and susceptibility to ulcerative colitis (UC) in the Chinese Han ethnic population.Methods We studied 110 unrelated UC patients and 292 healthy controls from Zhejiang Province, China.Genotyping for 6 common TNF promoter polymorphisms (TNF -1031T/C, -863C/A, -857C/T, -380G/A,-308G/A, -238G/A) was carried out by polymerase chain reaction sequence-specific primers (PCR-SSP).Results TNF-308A was associated with disease (allele frequency patients 14.6% vs controls 8.9%, P=0.02).TNF -857T was increased in patients but without statistical significance (allele frequency 17.3% vs 12.2%,P=0.06). Haplotype analysis revealed 6 haplotypes including two (H5 and H3), which contained TNF -308A. H5was associated with disease (haplotype frequency patients -12.3% vs controls 7.5%, P=0.03). Of note the rare haplotype H3 has not previously been identified in Caucasian populations. Homozygosity for the haplotype H4comprising the common alleles at each TNF promoter single-nucleotide polymorphism (SNP) was negatively associated with disease (patients vs controls 24.5% vs 34.9%, P<0.05).Conclusions We report the association with TNF -308A polymorphisms in Chinese patients with ulcerative colitis. The functional study in Chinese Han ethnic population is now required.

  1. Correlation of HDEFB1 polymorphism and 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; 倪望; 陈士新

    2004-01-01

    Background Inherited factors are involved in the development of chronic obstructive pulmonary disease (COPD). This study was designed to investigate the relationship between polymorphisms of HDEFB1 668 C/G and 1654G/A loci and susceptibility to COPD in Chinese Han population.Methods After the process of extracting genomic DNA from peripheral blood of COPD smokers and healthy smokers, the loci of genotypes 668C/G and 1654G/A were determined by polymerase chain reaction-restriction fragment length polymorphism analysis and polymerase chain reaction-single strand conformation polymorphism analysis. Results With respect to HDEFB1 668 locus, the occurences of CC, CG, GG genotypes were 72.7%, 25.0%, 2.3% in COPD smokers and 53.2%, 38.3%, 8.5% in healthy smokers (P<0.05, respectively). The allele frequencies of 668 C and 668G were 85.2% and 14.8% in COPD smokers and 72.3% and 27.7% in healthy smokers (P<0.01, respectively, odds ratio was 2.32 with 95% confidence interval 1.37 to 3.72). As to HDEFB1 1654G/A locus, neither genotype distribution difference nor allele distribution difference was found when comparing COPD smokers with healthy smokers. Conclusion The polymorphism of HDEFB1 668C/G is associated with susceptibility to COPD in Chinese Han population; furthermore, the 668G allele represents relatively lower susceptibility to COPD.

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

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

    2016-01-01

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

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

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

    2017-01-31

    We investigated the association between single nucleotide polymorphisms (SNPs) in ALDH2, which has been associated with alcohol dependence and several types of diseases, and the risk of drug addiction in a Chinese Han population. In a case-control study that included 692 cases and 700 healthy controls, eight SNPs in ALDH2 were selected and genotyped using the Sequenom MassARRAY platform. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression after adjusting for age and gender. We determined that rs671 is significantly associated with a 1.551-fold increased drug addiction risk (95% CI = 1.263-1.903; p drug addiction under additive, dominant and recessive models (p drug addiction risk under additive and recessive model, respectively (p drug addiction risk (OR = 1.668; 95% CI, 1.328-2.094, p drug addiction risk (OR = 0.444; 95% CI, 0.281-0.704, p drug addiction in the Chinese Han population.

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

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

    2017-01-01

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

  5. MAPT as a predisposing gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population

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    Pu Fang; Wenyuan Xu; Chengsi Wu; Min Zhu; Xiaobing Li; Daojun Hong

    2013-01-01

    A previous study of European Caucasian patients with sporadic amyotrophic lateral sclerosis demonstrated that a polymorphism in the microtubule-associated protein Tau (MAPT) gene was significantly associated with sporadic amyotrophic lateral sclerosis pathogenesis. Here, we tested this association in 107 sporadic amyotrophic lateral sclerosis patients and 100 healthy controls from the Chinese Han population. We screened the mutation-susceptible regions of MAPT-the 3′and 5′untranslated regions as wel as introns 9, 10, 11, and 12-by direct sequencing, and identified 33 genetic variations. Two of these, 105788 A>G in intron 9 and 123972 T>A in intron 11, were not present in the control group. The age of onset in patients with the 105788 A>G and/or the 123972 T>A variant was younger than that in patients without either genetic variation. Moreover, the pa-tients with a genetic variation were more prone to bulbar palsy and breathing difficulties than those with the wild-type genotype. This led to a shorter survival period in patients with a MAPT genetic variant. Our study suggests that the MAPT gene is a potential risk gene for sporadic amyotrophic lateral sclerosis in the Chinese Han population.

  6. Association of apolipoprotein E 4 polymorphism with cerebral infarction in Chinese Han population

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    Zhu-qing JIN; Wei-feng JI; Jian-gang ZHANG; Yong-sheng FAN; Jing DING; Mei CHEN; Wei FAN; Guang-ji ZHANG; Bin-hui ZHANG; Suo-jing YU; Yong-sheng ZHANG

    2004-01-01

    AIM: To study the association between APOE polymorphisms and cerebral infarction through a case-control study among the Chinese Han population. METHODS: First-ever cerebral infarction patients (n=226) whose ages ranged from 40 to 60 years old were recruited from Department of Neurology, Zhongshan Hospital, Shanghai, and Zhejiang Chinese Traditional Medicine Hospital, Zhejiang, China. Unrelated healthy controls (n=201) were selected from the general population in the same area with similar age and sex distribution. APOE was amplified by one-stage PCR using the forward primer: 5'-GGC ACG GCT GTC CAA GGA GCT-3' and reverse primer: 5'-GAT GGC GCT GAG GCC GCG CT-3'. The PCR product was digested directly with 5 U of CfoI and separated by a 20 % polyacrylamide (acrylamide: bis-acrylamide=29:1) nondenaturing gel. RESULTS: Both cerebral infarction patient and control groups were in Hardy-Weinberg equilibrium. The allele frequency ofAPOE*2, APOE*3, and APOE*4 was 4.6 %,81.9 %, and 13.5 % respectively in the patients with cerebral infarction; 5.7 %, 87.3 %, and 7.0 % respectively in the healthy control group. Compared with APOE3/3 subjects, APOE4/4 carriers had a 2.1-fold risk of cerebral infarction (odds ratio 2.1, 95 % confidence limits 1.3 to 3.4). The allele frequency of APOE*4 in the cerebral infarction patient group was significantly higher than that in the control group (13.5 % vs 7.0 %; P=0.002).CONCLUSION: APOE 4 is a risk factor for cerebral infarction among the Chinese Han population.

  7. Association of NFATc1 gene polymorphism with ventricular septal defect in the Chinese Han population

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    SHEN Lei; LI Zhong-zhi; SHEN A-dong; LIU Hui; BAI Song; GUO Jian; YUAN Feng

    2013-01-01

    Background Congenital heart disease (CHD) is a diverse group of diseases determined by genetic and environmental factors.Considerable research has been done on genes associated with the development of the heart.Recently,focus is on the role of transcription factor NFATc1 in the development of proper valve and septa.As part of a larger study,high density single nucleotide polymorphism (SNP) scanning was used to explore the relationship between NFATc1 gene polymorphism and susceptibility to ventricular septal defect (VSD) in the Chinese Han population.Methods One hundred and ninety-two pediatric patients with congenital VSD and 192 matching healthy control subjects were studied.The haplotype reconstructions were calculated by PHASE2.0 software.Haploview software was used to perform linkage disequilibrium assessment and define haplotype blocks.The algorithm used for defining the blocks was the confidence interval method.Results The NFATc1 gene region can be divided into 11 haplotype blocks.Strong linkage disequilibrium existed within blocks 6,8,9,and 11.Three SNPs (rs7240256,rs11665469,and rs754505) within the NFATc1 gene had significant correlation with VSD by single marker association analysis.In addition,two haplotypes correlated with VSD.Conclusions NFATc1 is associated with the occurrence of VSD and it may be a predisposing gene to CHD in Han Chinese.This finding has set a direction for further genetic and functional studies.

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

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

    2014-08-01

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

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

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

    2014-06-03

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

  10. 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

  11. 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.

  12. The Association of IL-12b Polymorphisms with Systemic Lupus Erythematosus in Chinese Han Population

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    Yong Shao

    2012-01-01

    Full Text Available Background. Systemic lupus erythematosus (SLE is a complex immune disease. The genetic variation in the IL-12b gene was found to associate with SLE in Caucasian population. In this study, we examined this association in Chinese Han population by a recently developed method, unlabeled probe-based high resolution melting analysis. Methods. A total of 297 SLE patients and 351 controls were recruited. Unlabeled probe-based high resolution melting analysis (HRMA was used in genotyping. Results. Statistically significant differences were observed in both genotype and allele frequencies for rs6887695 in the SLE patients as compared with the controls. Minor allele (C of rs6887695 (P=0.031, OR 0.78, [95% CI 0.63-0.98] was found to be protective against SLE. The association of SNP rs6887695 with the diagnostic criteria of SLE was also examined. Minor allele (C exerts protective effect on the incidence of arthritis (P=0.013, OR = 0.65, 95% CI = 0.47-0.92 and abnormalities of antinuclear antibody (P=0.022, OR = 0.68, 95% CI = 0.49–0.95. IL-12b SNPs were irrelevant to other diagnostic criteria of SLE. Summary. Polymorphisms of rs6887695 in IL-12b gene were associated with disease risk, as well as arthritis and antinuclear antibody synthesis, of systemic lupus erythematosus in Chinese population.

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

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

    2011-06-01

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

  14. Relevance Study on Cerebral Infarction and Resistin Gene Polymorphism in Chinese Han Population

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    Yan, Aijuan; Cai, Gaoyu; Fu, Ningzhen; Feng, Yulan; Sun, Jialan; Maimaiti, Yiming; Zhou, Weijun; Fu, Yi

    2016-01-01

    Recent research on genome-wide associations has implicated that the serum resistin level and its gene polymorphism are associated with cerebral infarction (CI) morbidity and prognosis, and could thereby regulate CI. This study aimed to investigate the association between the resistin single nucleotide polymorphism (SNP) and the susceptibility to CI in the Chinese Han population. A total of 550 CI patients and 313 healthy controls were genotyped. Nine SNPs of the resistin gene previously shown were sequenced and assessed for an association with CI. The numbers of GG genotype carriers of rs3219175 and rs3486119 in the CI group were significantly higher than those in the control group among the middle-aged group (aged 45-65), at 76% vs 67.9% (P=0.025) and 75.5% vs 67.9% (P=0.031). rs3219175 and rs34861192 were associated with CI in the dominant and superdominant models according to the genetic model analysis (P<0.05). Meanwhile, there was strong linkage disequilibrium among the rs34124816, rs3219175, rs34861192, rs1862513, rs3745367, 180C/G and rs3745369 sites. In a haplotype analysis, the occurrence rate of the haplotype AGGCAGC was 1.97 times (P<0.05) higher in the patient group than in the control group. In addition, the numbers of GG genotype carriers of rs3219175 and rs3486119 in the middle-aged male CI patients and the middle-aged small artery occlusion (SAO) CI patients were higher than those in the control group (P<0.05). In the Chinese Han middle-aged population, the GG gene type carriers of the resistin gene sites rs3219175 and rs34861192 had a high risk for CI onset, especially in middle-aged male patients and SAO CI in all middle-aged patients. PMID:27699082

  15. Polymorphisms in CISH gene are associated with persistent hepatitis B virus infection in Han Chinese population.

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    Zhangyong Hu

    Full Text Available BACKGROUND AND AIM: Cytokine-inducible SRC homology 2 domain protein (CISH is the first member of the suppressors of cytokine signaling (SOCS protein family. An association between multiple CISH polymorphisms and susceptibility to infectious diseases has been reported. This study aimed to investigate the possible association of these single nucleotide polymorphisms (SNPs in CISH gene with different outcomes of Hepatitis B virus (HBV infection. METHODS: 1019 unrelated Chinese Han subjects, including 240 persistent asymptomatic HBV carriers, 217 chronic hepatitis B patients, 137 HBV-related liver cirrhosis patients, and 425 cases of spontaneously recovered HBV as controls, were studied. Four SNPs (rs622502, rs2239751, rs414171 and rs6768300 in CISH gene were genotyped with the snapshot technique. Transcriptional activity of the CISH promoter was assayed in vitro using the dual-luciferase reporter assay system. RESULTS: At position rs414171, A allele and AA genotype frequencies were significantly higher in the HBV-resolved group as compared to the persistent HBV infection group. At position rs2239751, TT genotype was further observed in the HBV-resolved group. Using asymptomatic HBV carriers as controls, our results indicated that the rs414171 and rs2239751 polymorphisms were unrelated to HBV progression. The other two SNPs (rs622502 and rs6768300 showed no association with persistent HBV infection. Haplotype analysis revealed that the GGCA haplotype was associated with spontaneous clearance of HBV in this population. Moreover, luciferase activity was significantly higher in the PGL3-Basic-rs414171T construct as compared to the PGL3-Basic-rs414171A construct (p<0.001. CONCLUSION: Two SNPs (rs414171 and rs2239751 in the CISH gene were associated with persistent HBV infection in Han Chinese population, but not with HBV progression.

  16. An association study of HFE gene mutation with idiopathic male infertility in the Chinese Han population

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    Xiao-Ying Yu; Xu Ma; Bin-Bin Wang; Zhong-Cheng Xin; Tao Liu; Ke Ma; Jian Jiang; Xiang Fang; Li-Hua Yu; Yi-Feng Peng

    2012-01-01

    Mutations in the haemochromatosis gene (HFE) influence iron status in the general population of Northern Europe,and excess iron is associated with the impairment of spermatogenesis.The aim of this study is to investigate the association between three mutations (C282Y,H63D and S65C) in the HFE gene with idiopathic male infertility in the Chinese Han population.Two groups of Chinese men were recruited:444 infertile men (including 169 with idiopathic azoospermia) and 423 controls with proven fertility.The HFEgene was detected using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique.The experimental results demonstrated that no C282Y or S65C mutations were detected.Idiopathic male infertility was not significantly associated with heterozygous H63D mutation (odds ratio=0.801,95% confidence interval=0.452-1.421,X2=0.577,P=0.448).The H63D mutation frequency did not correlate significantly with the serum luteinizing hormone (LH),follicle-stimulating hormone (FSH) and testosterone (T) levels in infertile men (P=0.896,P=0.404 and P=0.05,respectively).Our data suggest that the HFE H63D mutation is not associated with idiopathic male reproductive dysfunction.

  17. Replication of association study between type 2 diabetes mellitus and IGF2BP2 in Han Chinese population

    Institute of Scientific and Technical Information of China (English)

    ZHANG Si-min; XIAO Jian-zhong; REN Qian; HAN Xue-yao; TANG Yong; YANG Wen-ying; JI Li-nong

    2013-01-01

    Background The association between IGF2BP2 and type 2 diabetes mellitus (T2DM) has been repeatedly confirmed among different ethnic populations.However,in several genome-wide association studies (GWAS) from the Chinese Han population,the gene IGF2BP2 has not been replicated.The results of relevant studies for the association between IGF2BP2 and T2DM showed controversy in Chinese Han population.It is necessary to systematically evaluate the contribution of common variants in IGF2BP2 to T2DM in Chinese Han population.Methods Two single-nucleotide polymorphisms (SNPs,rs4402960 and rs1470579) in IGF2BP2 were genotyped in Chinese Han population (3807 controls/4531 T2DM cases) by Illumina GoldenGate Indexing assay.The association between SNPs and T2DM was evaluated by multiple Logistic Regression analysis.A meta-analysis was used to estimate the effects of IGF2BP2 in 20854 Chinese Han individuals.Results rs1470579 and rs4402960 were confirmed to have strong association with T2DM in the Chinese Han population (rs1470579 P=-1.80x10-7,OR (95% CI)=1.22 (1.14-1.32),rs4402960 P=7.46x10-9,OR (95% CI)=1.26 (1.17-1.37),respectively).Moreover,11 studies for rs4402960 were included in the meta-analysis and 7 studies for rs1470579.The meta-analysis also showed the association between T2DM and IGF2BP2 (rs1470579 OR of 1.15 (95% CI=1.10-1.19),P <0.0001 under an additive model and rs4402960 OR of 1.14 (95% CI=1.10-1.18),P <0.0001 under an additive model).Conclusion IGF2BP2 was strongly associated with the risk of T2DM in Chinese Han population.

  18. Hepatocyte growth factor genetic variations and primary angle-closure glaucoma in the Han Chinese population.

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    Zhengxuan Jiang

    Full Text Available PURPOSE: The aim of this study is to examine whether or not hepatocyte growth factor (HGF genetic variations are associated with susceptibility to primary angle-closure glaucoma (PACG in the Han Chinese population. METHODS: Three single-nucleotide polymorphisms (SNPs-rs5745718, rs17427817, and rs3735520-in the HGF gene were genotyped in 238 adult patients with PACG and 287 age-, sex-, and ethnically matched healthy controls by using a polymerase chain reaction restriction fragment length polymorphism assay. Data was analyzed by χ(2 analysis. RESULTS: The three tested analyzed polymorphisms in the HGF gene were in Hardy-Weinberg equilibrium, in all the subjects. The frequencies of the genotype and allele of rs5745718 and rs1742817 in the HGF gene were significantly different between the PACG patients and the controls. On one hand, the frequencies of the CC genotype and C allele of rs5745718 were significantly decreased in PACG patients compared with controls (Pc = 1.40×10(-3; Pc = 3.21×10(-4, respectively; however, on the other hand, significantly decreased frequencies of the GG genotype and the G allele of rs17427817 were observed in PACG patients compared with the controls (Pc = 0.006,; Pc = 6.06×10(-4, respectively. A comparison of the distributions of the genotypes and alleles of rs3735520 showed no statistically significant differences between the PACG patients and the controls (pc>0.05. The haplotype analysis results showed that the CGC haplotype frequency was significantly decreased in the patients with PACG compared with the controls (pc<0.001. No difference was detected between the patients and the controls with regard to the other haplotypes. CONCLUSIONS: Our study suggests that rs5745718 and rs17427817 are associated with a decreased risk of PACG in the Chinese Han population. The CGC haplotype was demonstrated to possibly play a protective role against PACG in this population.

  19. MICA Gene Deletion in 3411 DNA Samples from Five Distinct Populations in Mainland China and Lack of Association with Nasopharyngeal Carcinoma (NPC) in a Southern Chinese Han population.

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    Wang, WenYi; Tian, Wei; Zhu, FaMing; Li, LiXin; Cai, JinHong; Wang, Fan; Liu, KangLong; Jin, HeKun; Wang, JunLong

    2016-11-01

    Deletion of major histocompatibility complex class I chain-related genes A (MICA*Del) was investigated in 3,411 DNA samples from two southern Chinese Han populations (Hunan Han, HNH; Guangdong Han, GDH), two northern Chinese populations (Inner Mongolia Han, IMH; Inner Mongolia Mongol, IMM) and one southeastern Chinese Han population (Fujian Han, FJH) using an in-house polymerase chain reaction-sequence specific priming (PCR-SSP) assay, which enables direct discrimination between heterozygote and homozygote for MICA*Del. MICA*Del showed a frequency ranging from 0.8% in FJH to 5.7% in IMM (Pcorrected populations. In contrast to the association reported recently in a Taiwan Chinese population and a Malaysian Chinese cohort, MICA*Del distribution did not differ between 1,120 patients with nasopharyngeal carcinoma (NPC) and 1,483 normal controls in the HNH population (1.03% in NPC cases vs 1.18% in the controls, OR (95% CI) = 0.87 (0.51-1.47), p = 0.69). Further gender-stratified analysis also failed to disclose any male-specific association reported in a Taiwan Chinese population. Multi-locus typing of the 94 samples carrying MICA*Del revealed two new haplotypes, HLA-A*11:01-B*13:01-MICA*Del-MICB*009N-DRB1*04:06 and HLA-B*35:01-MICA*Del-MICB*009N-DRB1*15:01, in addition to HLA-B*48-MICA*Del. Unexpectedly, two samples with MICA*Del in the HNH population were each consistently found to have two distinct MICA alleles, indicating the existence of two MICA gene copies on certain HLA haplotypes. Based on the results from a sizeable case-control study, our data suggest that there is no association between MICA*Del and NPC in the southern Chinese Han population.

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

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    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

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

    Science.gov (United States)

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

    2013-01-01

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

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

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

    2017-01-01

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

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

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    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.

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

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

    2016-06-01

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

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

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    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.

  6. Relationship between cystathionine γ-lyase gene polymorphism and essential hypertension in Northern Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    LI Yun; ZHAO Qi; LIU Xiao-li; WANG Lai-yuan; LU Xiang-feng; LI Hong-fang; CHEN Shu-feng; HUANG Jian-feng; GU Dong-feng

    2008-01-01

    Background Hydrogen sulfide(H2S)plays an important role in the smooth muscle cell relaxation and thereby participates in the development of hypertension. Cystathionine γ-lyase is the key enzyme in the endogenous production of H2S. Up to now, the reports on the relationship between the polymorphisms of cystathionine γ-lyase gene (CTH) and essential hypertension(EH)are limited. This study was designed to assess their underlying relationship. Methods A total of 503 hypertensive patients and 490 age-, gender-and area-matched normotensive controls were enrolled in this study. Based on the FASTSNP, a web server to identify putative functional single nucleotide polymorphisms (SNPs) of genes, we selected two SNPs, rs482843 and rs1021737, in the CTH gene for genotyping. Genotyping was performed by the polymerase chain reaction and restriction fragment length polymorphism method (PCR-RFLP). The frequencies of the alleles and genotypes between cases and controls were compared by the chi-square test. The program Haplo. stats was used to investigate the relationship between the haplotypes and EH. Results These two SNPs were in Hardy-Weinberg Equilibrium in both cases and controls. The genotype distribution and allele frequencies of them did not significantly differ between cases and controls(all P>0.05). In the stepwise logistic regression analysis we failed to observe their association with hypertension. In addition, none of the four estimated haplotypes or diplotypes significantly increased or decreased the risk of hypertension before or after adjustment for several known risk factors. Conclusions The present study suggests that the SNPs rs482843 and rs1021737 of the CTH gene were not associated with essential hypertension in the Northern Chinese Han population. However, replications in other populations and further functional studies are still necessary to clarify the role of the CTH gene in the pathogenesis of EH.

  7. 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.

  8. Obesity-related genomic loci are associated with type 2 diabetes in a Han Chinese population.

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    Xiaomu Kong

    Full Text Available Obesity is a well-known risk factor for type 2 diabetes. Genome-wide association studies have identified a number of genetic loci associated with obesity. The aim of this study is to examine the contribution of obesity-related genomic loci to type 2 diabetes in a Chinese population.We successfully genotyped 18 obesity-related single nucleotide polymorphisms among 5338 type 2 diabetic patients and 4663 controls. Both individual and joint effects of these single nucleotide polymorphisms on type 2 diabetes and quantitative glycemic traits (assessing β-cell function and insulin resistance were analyzed using logistic and linear regression models, respectively.Two single nucleotide polymorphisms near MC4R and GNPDA2 genes were significantly associated with type 2 diabetes before adjusting for body mass index and waist circumference (OR (95% CI = 1.14 (1.06, 1.22 for the A allele of rs12970134, P = 4.75×10(-4; OR (95% CI = 1.10 (1.03, 1.17 for the G allele of rs10938397, P = 4.54×10(-3. When body mass index and waist circumference were further adjusted, the association of MC4R with type 2 diabetes remained significant (P = 1.81×10(-2 and that of GNPDA2 was attenuated (P = 1.26×10(-1, suggesting the effect of the locus including GNPDA2 on type 2 diabetes may be mediated through obesity. Single nucleotide polymorphism rs2260000 within BAT2 was significantly associated with type 2 diabetes after adjusting for body mass index and waist circumference (P = 1.04×10(-2. In addition, four single nucleotide polymorphisms (near or within SEC16B, BDNF, MAF and PRL genes showed significant associations with quantitative glycemic traits in controls even after adjusting for body mass index and waist circumference (all P values<0.05.This study indicates that obesity-related genomic loci were associated with type 2 diabetes and glycemic traits in the Han Chinese population.

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

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

    2016-06-01

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

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

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

    2014-01-01

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

  11. High Level Serum Procalcitonin Associated Gouty Arthritis Susceptibility: From a Southern Chinese Han Population.

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    Wen Liu

    Full Text Available To study the serum Procalcitonin (PCT level in inflammatory arthritis including gouty arthritis (GA, Rheumatoid arthritis (RA, and ankylosing spondylitis (AS without any evidence of infection were evaluated the possible discriminative role of PCT in gouty arthritis susceptibility in southern Chinese Han Population.From Feb, 2012 to Feb, 2015, 51 patients with GA, 37 patients with RA, 41 patients with AS and 33 healthy control were enrolled in this study with no evidence of infections. The serum level of PCT (normal range < 0.05 ng/ml was measured by electrochemiluminescence immunoassay (ECLIA. Disease activity was determined by scores of VAS (4.07 ± 1.15, DAS28 (4.97 ± 1.12, and ASDAS (2.97 ± 0.81 in GA, RA and AS groups respectively. Other laboratory parameters such as, serum creatinine (CRE, erythrocyte sedimentation rate (ESR, C-reactive protein (CRP, uric acid (UA and white blood cells (WBC were extracted from medical record system.Serum PCT level was predominantly higher in gouty arthritis than in RA and AS patients, especially in the GA patients with tophi. PCT was significantly positively correlated with VAS, CRP and ESR in gouty arthritis and CRP in AS. PCT also had positive correlation-ship with ESR, DAS28 and ASDAS in RA and AS patients respectively, but significant differences were not observed.These data suggested that PCT is not solely a biomarker for infection, but also an indicator in inflammatory arthritis, especially in gouty arthritis.

  12. Association of E26 Transformation Specific Sequence 1 Variants with Rheumatoid Arthritis in Chinese Han Population.

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    Lin Chen

    Full Text Available E26 transformation specific sequence 1 (ETS-1 belongs to the ETS family of transcription factors that regulate the expression of various immune-related genes. Increasing evidence indicates that ETS-1 could contribute to the pathogenesis of autoimmune disease. Recent research has provided evidence that ETS-1 might correlate with rheumatoid arthritis (RA, but it's not clearly defined. In this study, we aimed to identify whether polymorphisms of ETS-1 play a role in Rheumatoid arthritis (RA susceptibility and development in Chinese Han population.Four single nucleotide polymorphisms (SNPs within ETS-1 were selected based on HapMap data and previous associated studies. Whole blood and serum samples were obtained from 158 patients with RA and 192 healthy subjects. Genotyping was performed with polymerase chain reaction-high resolution melting (PCR-HRM assay and the data was analyzed using SPSS17.0.A significantly positive correlation was observed between the SNP rs73013527 of ETS-1 and RA susceptibility, DAS28 and CRP (P<0.001, P = 0.001, and P = 0.028, respectively. Carriers of the haplotype CCT or TCT for rs4937333, rs11221332 and rs73013527 were associated with decreased risk of RA as compared to controls. No statistical significant difference was observed in the distribution of rs10893872, rs4937333 and rs11221332 genotypes between RA patients and controls.Our data further supports that ETS-1 has a relevant role in the pathogenesis and development of RA. Allele T of rs73013527 plays a protective role in occurrence of RA but a risk factor in the high disease activity. Rs10893872, rs11221332 and rs4937333 are not associated with RA susceptibility and clinical features.

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

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

    2013-04-01

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

  14. Mutation analysis of 24 short tandem repeats in Chinese Han population.

    Science.gov (United States)

    Lu, Dejian; Liu, Qiuling; Wu, Weiwei; Zhao, Hu

    2012-03-01

    Germline mutations of 24 short tandem repeat (STR) loci (TPOX, D3S1358, FGA, D5S818, CSF1PO, D7S820, D8S1179, TH01, vWA, D13S317, Penta E, D16S539, D18S51, Penta D, D21S11, D2S1772, D6S1043, D7S3048, D8S1132, D11S2368, D12S391, D13S325, D18S1364, and GATA198B05) were studied for 6,441 parent-child meioses taken from the paternity testing cases in Chinese Han population. In total, 195 mutations were identified at 22 of the 24 loci. Among them, 189 (96.92%) mutations were one step, five mutations (2.56%) were two step, and one mutation (0.51%) was three step. No mutation was found at the TH01 and TPOX loci. The overall mutation rate estimated was 0.0013 (95% CI 0.0011-0.0015), and the locus-specific mutation rate estimated ranged from 0 to 0.0034. There was a bias in the STR mutations that repeat gains were more common than losses (∼1.7:1). Mutation events in the male germline were more frequent than in the female germline (∼4.3:1). Furthermore, loci with a larger heterozygosity tended to have a higher mutation rate. Mutation in short alleles was biased towards expansion, whereas mutation in long alleles favored contraction. The long alleles have a higher allelic mutational probability than short alleles.

  15. 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.

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

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    Yongqin Wu

    2016-01-01

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

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

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    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.

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

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

    2010-01-05

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

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

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    Wang, Hongli; Fan, Dongsheng; Zhang, Yingshuang

    2013-12-25

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

  20. MODIFIED CLASSIC RISK FACTORS FOR CORONARY ARTERY DISEASE IN CHINESE HAN POPULATION

    Institute of Scientific and Technical Information of China (English)

    Han-bin Cui; Joseph B Muhlestein; Sheng-huang Wang; Dong-qi Wang; Chang-cong Cui; Xin-yi Chen; Xiao-min Chen; Zheng Zhang; Hong-kao Zhang; Feng Bai

    2007-01-01

    should be given on the prevalent low serum HDL-C and its strong risk correlation with the presence of CAD in male subjects of Chinese Han population.

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

    Science.gov (United States)

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

    2016-01-01

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

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

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    Zheng Zhou

    Full Text Available Interleukin (IL-17 is a proinflammatory cytokine mainly secreted by activated T helper 17 cells and involved in inflammatory immune responses. This study aimed to investigate the association between IL-17 variants as well as serum IL-17 levels with gout in male Chinese Han individuals. A total of 1,101 male gout patients and 1,239 ethic-matched controls were enrolled. Genetic distributions of three variants (rs2275913 in IL-17A, rs763780 in IL-17F, and rs4819554 in IL-17RA were detected by real-time polymerase chain reaction using the Taqman probe method. The plasma concentrations of IL-17A and IL-17F were measured in 228 gout patients and 198 controls that came from above samples by an enzyme-linked immunosorbent assay. No significant differences were observed in the genetic distribution of these polymorphisms between cases and controls (rs2275913: χ2 = 0.15, p = 0.928 by genotype, χ2 = 0.14, p = 0.711 by allele; rs763780: χ2 = 2.24, p = 0.326 by genotype, χ2 = 0.26, p = 0.609 by allele; rs4819554: χ2 = 1.79, p = 0.409 by genotype, χ2 = 1.46, p = 0.227 by allele. Levels of serum IL-17A and IL-17F were significantly decreased in gout patients (both p0.05. Although the genetic variants in IL-17 we studied in this research do not appear to be involved in the development of gout in male Chinese Han individuals, the IL-17 cytokine family may participate in gouty inflammation in an undefined way, which requires further validation.

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

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

    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.

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

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

    2013-10-01

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

  5. Angiotensin-converting enzyme gene polymorphism and middle cerebral artery stenosis in a Chinese Han population

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    Chunshu Rong; Yingqi Xing; Xinmei Jiang; Juan Wang; Baoshan Gao; Jianjun Zhao; Kangding Liu

    2013-01-01

    The angiotensin-converting enzyme gene is a candidate gene of stroke. The present study involved 62 healthy volunteers and 148 patients with middle cerebral artery stenosis as confirmed by brain color ultrasound from a Han population in North China, and determined the peripheral blood angiotensin-converting enzyme genotype using PCR-restriction fragment length polymorphism analysis. The results showed that the frequencies of the DD genotype and D allele were increased in patients with middle cerebral artery stenosis, but the difference was not statistically significant compared with healthy controls. The findings of this study on the relationship between stroke genes and middle cerebral artery stenosis indicate no significant correlation between the frequencies of the DD genotype and D allele of angiotensin-converting enzyme and middle cerebral artery stenosis in this Han population from North China. In the future, studies will be carried out to investigate correlations between multiple stroke candidate gene synergy and middle cerebral artery stenosis to provide a foundation for the development of gene therapy.

  6. Association analysis of STK39, MCCC1/LAMP3 and sporadic PD in the Chinese Han population.

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    Wang, Ya-qin; Tang, Bei-sha; Yu, Ri-li; Li, Kai; Liu, Zhen-hua; Xu, Qian; Sun, Qi-ying; Yan, Xin-xiang; Guo, Ji-feng

    2014-04-30

    With the completion of the Human Genome Project, GWAS have been widely used in exploring the genetic studies of complex diseases. A meta-analysis of datasets from five Parkinson's disease GWAS from the USA and Europe found 11 loci that surpassed the threshold for genome-wide significance (pJewish population also identified loci in STK39 and LAMP3. Because the association between the STK39 and MCCC1/LAMP3 genes and PD was confirmed in different populations, we conducted a case-control cohort to clarify the association between the four single nucleotide polymorphism (SNP) loci (rs2102808 and rs3754775 in the STK39; rs11711441 and rs12493050 in the MCCC1/LAMP3) and PD in the Chinese Han population. Polymerase chain reaction and direct DNA sequencing analyses were used to detect the four variations in a case-control cohort comprised of 993 ethnic Chinese subjects. We found that in the detection of the rs11711441, there was a significant difference between ungrouped populations, early-onset PD, late-onset PD, male PD, female PD and the corresponding control group in allele and genotype frequency (p0.0125). Our findings suggested that the allele G of rs11711441 of the MCCC1/LAMP3 gene can decrease the risk of PD in Chinese population. No statistically significant difference in genotype frequency between cases and controls was observed for the other three SNPs.

  7. 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.

  8. Association of thrombomodulin Ala455Val dimorphism and inflammatory cytokines with carotid atherosclerosis in the Chinese Han population

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    Qian G

    2012-11-01

    Full Text Available Gaochao Qian,1 Zhixiang Ding,1 Binxia Zhang,2 Qihua Li,2 Wentao Jin,1 Qi Zhang21Clinical Laboratory Department, 2Department of Cardiology, Changzhou TCM Hospital Affiliated to Nanjing TCM University, Changzhou, ChinaBackground and methods: It has been reported that C/T dimorphism at position 1418 of the thrombomodulin gene causes a cytosine (C transition to thymidine (T, resulting in an alanine (A to valine (V substitution at amino acid position 455 (TM455. TM455 had been found not only in African American and American whites, but also in whites in The Netherlands and Sweden. Among these populations, the C/C genotype is predominant, although the distribution of this dimorphism is different. Thrombomodulin is an important anticoagulant protein that is downregulated in endothelial cells overlying atherosclerotic plaques and is also an anti-inflammatory molecule. TM455 is located in the last epidermal growth factor-like repeat of thrombomodulin, which is functionally important for protein C activation and thrombin binding. The distribution of thrombomodulin polymorphism and association between TM455, inflammatory cytokines, and carotid atherosclerosis in the Chinese Han population is unclear.Methods: This thrombomodulin dimorphism was analyzed by allele-specific amplification in 144 patients with carotid atherosclerosis and in 384 healthy controls. TM455 was found in the Chinese Han population, but the genotype frequency and distribution of each genotype in this population differed substantially from that in other ethnic subgroups. The C/T and T/T genotypes were predominant in the Chinese Han population, and the frequency of the T allele in this population (63.8% was much higher than that in whites in The Netherlands (18%, Sweden (26.1%, and the US (18.4%, and in blacks in the US (7.6%. The frequencies of these single nucleotide polymorphisms complied well with the Hardy-Weinberg equilibrium in healthy individuals. The C allele was significantly

  9. 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 frequencies of 24 blood group antigens in the Chinese Han population from Mainland China. The data can be helpful in creating a donor database for

  10. Pathway analysis for genome-wide association study of lung cancer in Han Chinese population.

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    Ruyang Zhang

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

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

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

    2014-03-01

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

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

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

    2014-04-01

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

  13. Genetic polymorphisms of the TYMS gene are not associated with congenital cardiac septal defects in a Han Chinese population.

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    Jian-Yuan Zhao

    Full Text Available BACKGROUND: Clinical research indicates that periconceptional administration of folic acid can reduce the occurrence of congenital cardiac septal defects (CCSDs. The vital roles of folate exhibits in three ways: the unique methyl donor for DNA expression regulation, the de novo biosynthesis of purine and pyrimidine for DNA construction, and the serum homocysteine removal. Thymidylate synthase (TYMS is the solo catalysis enzyme for the de novo synthesis of dTMP, which is the essential precursor of DNA biosynthesis and repair process. To examine the role of TYMS in Congenital Cardiac Septal Defects (CCSDs risk, we investigated whether genetic polymorphisms in the TYMS gene associated with the CCSDs in a Han Chinese population. METHOD: Polymorphisms in the noncoding region of TYMS were identified via direct sequencing in 32 unrelated individuals composed of half CCSDs and half control subjects. Nine SNPs and two insertion/deletion polymorphisms were genotyped from two independent case-control studies involving a total of 529 CCSDs patients and 876 healthy control participants. The associations were examined by both single polymorphism and haplotype tests using logistic regression. RESULT: We found that TYMS polymorphisms were not related to the altered CCSDs risk, and even to the changed risk of VSDs subgroup, when tested in both studied groups separately or in combination. In the haplotype analysis, there were no haplotypes significantly associated with risks for CCSDs either. CONCLUSION: Our results show no association between common genetic polymorphisms of the regulatory region of the TYMS gene and CCSDs in the Han Chinese population.

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

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    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.

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

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    Ze-Long Zhong

    2012-01-01

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

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

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    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.

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

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    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.

  18. Association between common variants near LBX1 and adolescent idiopathic scoliosis replicated in the Chinese Han population.

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    Wenjie Gao

    Full Text Available BACKGROUND: Adolescent idiopathic scoliosis (AIS is one of the most common spinal deformities found in adolescent populations. Recently, a genome-wide association study (GWAS in a Japanese population indicated that three single nucleotide polymorphisms (SNPs, rs11190870, rs625039 and rs11598564, all located near the LBX1 gene, may be associated with AIS susceptibility [1]. This study suggests a novel AIS predisposition candidate gene and supports the hypothesis that somatosensory functional disorders could contribute to the pathogenesis of AIS. These findings warrant replication in other populations. METHODOLOGY/PRINCIPAL FINDINGS: First, we conducted a case-control study consisting of 953 Chinese Han individuals from southern China (513 patients and 440 healthy controls, and the three SNPs were all found to be associated with AIS predisposition. The ORs were observed as 1.49 (95% CI 1.23-1.80, P = 5.09E-5, 1.70 (95% CI 1.42-2.04, P = 1.17E-8 and 1.52 (95% CI 1.27-1.83, P = 5.54E-6 for rs625039, rs11190870 and rs11598564, respectively. Second, a case-only study including a subgroup of AIS patients (N = 234 was performed to determine the effects of these variants on the severity of the condition. However, we did not find any association between these variants and the severity of curvature. CONCLUSION: This study shows that the genetic variants near the LBX1 gene are associated with AIS susceptibility in Chinese Han population. It successfully replicates the results of the GWAS, which was performed in a Japanese population.

  19. Androgen receptor (CAG)n polymorphisms and breast cancer risk in a Han Chinese population.

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    Dang, J; Peng, L; Zhong, H J; Huo, Z H

    2015-08-28

    The androgen receptor (AR) is involved in the differentiation and growth of breast cancer. Genetic markers in the AR gene have a plausible role in modulating the risk of breast cancer. In this study, we studied the association of breast cancer and the trinucleotide repeat polymorphism (CAG)n in exon 1 of the AR gene in 202 patients with breast cancer and 183 healthy controls from our hospital (Yinchuan, China). Repeat lengths were determined by fluorescent DNA fragment analysis using the ABI GeneScan software and DNA sequencing. We detected 17 short tandem repeat alleles in exon 1 in the Han population of Ningxia Province, China. The CAG repeat number ranged from 14 to 31 and the frequency ranged from 0.339 to 24.460%. Generally, (CAG)n repeat lengths 22 were classified as long (L). No association was found between breast cancer and the S/L (CAG) variants. However, the frequency of the (CAG)25 repeats in the breast cancer group was significantly higher than that in the control group (P = 0.033, odds ratio = 1.790, 95% confidence interval = 1.044-3.069). These findings indicate a role for AR gene (CAG)n variations in breast cancer and might be informative for future genetic or biological studies on breast cancer, although these findings need replication in other populations.

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

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

    2012-01-01

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

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

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

    2012-09-05

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

  2. ALLELE DISTRIBUTION OF D12S304, D12S313, D12S1583, D12S1640 AND D12S1708 IN CHINESE HAN POPULATION

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    Objective To analyze the genetic polymorphism of 5 STR loci (D12S304, D12S313, D12S1583, D12S1640 and D12S1708) on chromosome 12 in Chinese Han population. Methods EDTA-anticoagulated blood specimens were collected from unrelated individuals of Chinese Han population in Shaanxi province. DNA samples were extracted with the Wizard Genomic DNA purification Kit and were amplified by polymerase chain reaction (PCR) technique. The PCR products were analyzed by ABI 3100 Genetic Analyzer. Results All 5 loci were in Hardy-Weinberg equilibrium. Allele and genotype frequencies, heterozygosity, power of discrimination, polymorphism information content, probability of paternity exclusion and matching probability of each locus were calculated in Excel 2002. Conclusion They are complex loci with lots of evenly distributed alleles and high heterozygosity in Chinese Han population. Thus they are informative polymorphic loci and valuable DNA marker which represents a superior alternative to many established STRs.

  3. The clinical features of infantile hypertrophic pyloric stenosis in Chinese Han population: analysis from 1998 to 2010.

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    Zhiqiang Feng

    Full Text Available OBJECTIVE: To investigate clinical features of infantile hypertrophic pyloric stenosis (IHPS in Chinese Han population. METHODS: Three hundred and sixteen hospitalized patients with IHPS from January 1998 to February 2010 were retrospectively reviewed, and data including patient's sex, onset age, other coexisting congenital defects, pyloric circular muscle thickness evaluated by ultrasonograph, serum electrolytes concentration, and results of arterial blood gas analysis on admission were collected. The patients were divided into two groups: the duration between first onset and admission less than or equal to 10 days (early onset group, and more than 10 days (late onset group. The results of arterial blood gas and serum electrolyte concentration were compared between the two groups. RESULTS: There were 271 males and 45 females in 316 patients; the onset age ranged between 1 and 351 (26.5±26.6 days. The birth weight ranged between 1.6 and 4.5 (3.23±0.44 kilograms; coexisting congenital defects were found in 65 cases (20.6%. Pyloric circular muscle thickness was 4-8 (5.4±1.0 millimetres (mm. For the early onset group, the rates of hypokalemia, hypochloraemia and hypercapnia were significantly lower than those in the late onset group (18.67% VS 50%, P<0.0001; 46.03% VS 71.01%, P = 0.003; 56.58% VS 83.44%, P = 2.17×10(-5; respectively. CONCLUSIONS: The symptom duration in Chinese Han population was longer than that in other populations. And as the prolongation of symptom duration, the incidence of acid-base imbalance increased significantly. Infants with persistent vomiting at the age of 3∼5 weeks after birth should be considered IHPS, and go to hospital as soon as possible in order to reduce the incidence of hypokalemia, hypochloraemia and hypercapnia, and avoid deterioration.

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

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    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

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

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

    2011-01-01

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

  6. 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

  7. 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.

  8. Lack of an association of PD-1 and its ligand genes with Behcet's disease in a Chinese Han population.

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    Qianli Meng

    Full Text Available BACKGROUND: Behcet's disease is a chronic, multi-systemic autoimmune disease. Programmed cell death 1 (PD-1 gene is one of non-human leucocyte antigen genes. It has been demonstrated to be associated with several autoimmune diseases. However, only a few studies have addressed the association of ligand genes of PD-1, PD-L1 and PD-L2 with autoimmune disease. The purpose of this study was to analyze the potential association of the PD-1 and its ligand genes with Behcet's disease in a Chinese Han population. METHODOLOGY/PRINCIPAL FINDINGS: Four single-nucleotide polymorphism (SNPs rs2227981 and rs10204525 of PD-1, rs1970000 of PD-L1 and rs7854303 of PD-L2 were genotyped in 405 Behcet's patients and 414 age-, sex-, ethnic-matched healthy controls using polymerase chain reaction-restriction fragment length polymorphism assay. The results revealed that there were no significant differences in the genotype and allele frequencies of PD-1 rs2227981 and rs10204525 between the Behcet's patients and controls. A similar result was found for PD-L1 rs1970000 versus healthy controls. Only the C allele and the CC genotype of PD-L2 rs7854303 were identified in patients and controls. Stratification analysis based on gender and clinical findings did not show any associations between PD-1 or its ligand polymorphisms and Behcet's disease. CONCLUSIONS/SIGNIFICANCE: None of the currently studied SNPs, PD-1 rs2227981 and rs10204525, PD-L1 rs1970000 and PD-L2 rs7854303, are associated with the susceptibility to Behcet's disease in a Chinese Han population. More studies are needed to confirm these findings in Behcet's patients with other ethnic backgrounds.

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

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

    2016-01-01

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

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

    Science.gov (United States)

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

    2011-03-01

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

  11. The association of adiponectin gene promoter variations with non-small cell lung cancer in a Han Chinese population.

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    Yingfu Li

    Full Text Available Recently, in vitro studies have demonstrated that adiponectin has antiangiogenic and tumor growth-limiting properties. Additionally, serum adiponectin levels have been associated with the risk of several cancers; specifically, serum adiponectin was significantly lower in lung cancer patients with advanced-stage disease. In this study, we examined the association of adiponectin gene promoter variations associated with adiponectin gene expression and plasma levels in non-small cell lung cancer (NSCLC in a Han Chinese population. A total of 319 patients with NSCLC and 489 healthy individuals were recruited to evaluate the association of four adiponectin gene promoter single-nucleotide polymorphisms (SNPs (SNP-12140G>A, SNP-11426A>G, SNP-11391G>A and SNP-11377C>G with NSCLS risk. Additionally, we constructed haplotypes of these four SNPs and evaluated the association of these haplotypes with NSCLS risk. Our results showed that among these four SNPs, only SNP-12140G>A was associated with NSCLC risk (P0.05. Additionally, an association analysis of the four SNPs stratified into pathologic stages I+II and III+IV showed that these SNPs did not exhibit significant differences between pathologic stages I+II and III+IV. Moreover, we did not observe any differences in allele and genotype frequency for these SNPs between adenocarcinoma and squamous cell carcinoma. Our results indicated that the G allele of SNP-12140 may be a risk factor for NSCLC (OR = 1.516; 95% CI: 1.098-2.094 in this Han Chinese population.

  12. 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.

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

    Science.gov (United States)

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

    2010-10-01

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

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

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    Dan He

    Full Text Available To correlate serum level of monocyte chemoattractant protein-1 (MCP-1 with postoperative recurrence of spinal tuberculosis in the Chinese Han population.Patients of Han nationality with newly diagnosed spinal tuberculosis were consecutively included in this study. At different time points postoperatively, serum level of MCP-1 was determined using an enzyme linked immunosorbent assay. Recurrence of spinal tuberculosis after surgery and during the follow-up period was recorded. The correlation between serum MCP-1 level and recurrence of spinal tuberculosis was analyzed.A total of 169 patients with spinal tuberculosis were included in the study and followed up for an average of 2.2 ± 1.3 years (range, 1-5 years. Of these patients, 11 had postoperative recurrence of spinal tuberculosis. The patients' serum level of MCP-1 increased significantly after postoperative recurrence of spinal tuberculosis. Once the symptoms of recurrence were cured, the serum level of MCP-1 decreased significantly and it did not differ from patients without disease recurrence.Postoperative recurrence of spinal tuberculosis is likely to increase the serum level of MCP-1.

  15. 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.

  16. Genetic variants in long non-coding RNA MIAT contribute to risk of paranoid schizophrenia in a Chinese Han population.

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    Rao, Shu-Quan; Hu, Hui-Ling; Ye, Ning; Shen, Yan; Xu, Qi

    2015-08-01

    The heritability of schizophrenia has been reported to be as high as ~80%, but the contribution of genetic variants identified to this heritability remains to be estimated. Long non-coding RNAs (LncRNAs) are involved in multiple processes critical to normal cellular function and dysfunction of lncRNA MIAT may contribute to the pathophysiology of schizophrenia. However, the genetic evidence of lncRNAs involved in schizophrenia has not been documented. Here, we conducted a two-stage association analysis on 8 tag SNPs that cover the whole MIAT locus in two independent Han Chinese schizophrenia case-control cohorts (discovery sample from Shanxi Province: 1093 patients with paranoid schizophrenia and 1180 control subjects; replication cohort from Jilin Province: 1255 cases and 1209 healthy controls). In discovery stage, significant genetic association with paranoid schizophrenia was observed for rs1894720 (χ(2)=74.20, P=7.1E-18), of which minor allele (T) had an OR of 1.70 (95% CI=1.50-1.91). This association was confirmed in the replication cohort (χ(2)=22.66, P=1.9E-06, OR=1.32, 95%CI 1.18-1.49). Besides, a weak genotypic association was detected for rs4274 (χ(2)=4.96, df=2, P=0.03); the AA carriers showed increased disease risk (OR=1.30, 95%CI=1.03-1.64). No significant association was found between any haplotype and paranoid schizophrenia. The present studies showed that lncRNA MIAT was a novel susceptibility gene for paranoid schizophrenia in the Chinese Han population. Considering that most lncRNAs locate in non-coding regions, our result may explain why most susceptibility loci for schizophrenia identified by genome wide association studies were out of coding regions.

  17. No association of the insulin gene VNTR polymorphism with polycystic ovary syndrome in a Han Chinese population

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    Gao Guihua

    2009-12-01

    Full Text Available Abstract Background Polycystic ovary syndrome (PCOS is a common endocrine disorder associated with an increased risk of type II diabetes mellitus. The results of previous research about the association of the VNTR polymorphism in 5-prime flanking region of the insulin (INS gene with PCOS have been inconsistent. The present study was to investigate the association of the INS-VNTR polymorphism with PCOS in a Han Chinese population. Methods The -23/HphI polymorphism as a surrogate marker of the INS-VNTR length polymorphism was genotyped by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP in 216 PCOS patients and 192 non-PCOS women as a control group. Allelic and genotypic frequencies were compared between patients and controls, and these results were analyzed in respect to clinical test data. Results No significant differences were observed between the cases and controls groups either in allele (P = 0.996 or genotype (P = 0.802 frequencies of INS-VNTR polymorphism; Regarding anthropometric data and hormone levels, there were no significant differences between INS-VNTR genotypes in the PCOS group, as well as in the non-PCOS group. Conclusion The present study demonstrated for the first time that the INS-VNTR polymorphism is not a key risk factor for sporadic PCOS in the Han Chinese women. Further studies are needed to give a global view of this polymorphism in pathogenesis of PCOS in a large-scale sample, family-based association design or well-defined subgroups of PCOS.

  18. Association between previously identified loci affecting telomere length and coronary heart disease (CHD in Han Chinese population

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    Ding H

    2014-05-01

    Full Text Available Hui Ding,1 Fen Yan,1 Lin-Lin Zhou,2 Xiu-Hai Ji,3 Xin-Nan Gu,1 Zhi-Wei Tang,1 Ru-Hua Chen11Department of Pulmonary Medicine, The Affiliated Yixing People's Hospital, Jiangsu University, Zhenjiang, Jiangsu Province, 2Department of Cardiology, Affiliated Cixi Hospital, Wenzhou Medical University, Wenzhou, Zhejiang Province, 3Department of Oncology, Affiliated Taicang Hospital of Traditional Chinese Medicine, Suzhou, Jiangsu Province, People's Republic of ChinaPurpose: To replicate previously confirmed telomere-length loci in a Chinese Han population with coronary heart disease (CHD, and investigate these loci and the possibility of and age at onset of CHD.Patients and methods: 1514 CHD patients and 2470 normal controls were recruited. Medical data including age, sex, body mass index, lipid profiles, history of hypertension, type 2 diabetes mellitus, and dyslipidemia were collected from all the participants. Seven previously identified single-nucleotide polymorphisms (SNPs related to leucocyte telomere length were genotyped, including rs10936599 in TERC, rs2736100 in TERT, rs7675998 in NAF1, rs9420907 in OBFC1, rs8105767 in ZNF208, rs755017 in RTEL1, and rs11125529 in ACYP2.Results: No significant difference in genotype frequencies from the Hardy–Weinberg equilibrium test was noted for all tested SNPs both in the CHD patients and the normal controls. No polymorphism was observed for rs9420907, and AA genotype was noted in both the CHD patients and the controls. Neither the genotype nor the allele frequencies of rs2736100, rs8105767, rs11125529, and rs2967374 were significantly different between the CHD patients and the normal controls. For rs10936599 and rs755017, statistical difference was found for the allele frequency but not genotype. Distributions of genotype and allele were significantly different between the two groups for rs7675998. The odds ratio for carriers of CHD was 2.127 (95% confidence interval: 1.909–2.370 for the A allele of rs

  19. Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population.

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    Si Chen

    Full Text Available BACKGROUND: Single-nucleotide polymorphisms (SNPs in the TNFAIP3, IFIH1, and IRF5 genes have been associated with several auto-inflammation diseases, while the susceptibility between these genes and idiopathic inflammatory myopathies (IIMs were not reported. This study aimed to investigate whether TNFAIP3, IFIH1, and IRF5 gene polymorphisms confer susceptibility for the IIMs in Chinese Han population. METHODS: A large case-control study of Chinese subjects with polymyositis (PM (n = 298 and dermatomyositis (DM (n = 530 was accomplished. 968 healthy and ethnically matched controls were available for comparison. Six SNPs in the TNFAIP3 region (rs2230926 and rs5029939, the IFIH1 gene (rs1990760 and rs3747517 and the IRF5 region (rs4728142 and rs729302 were assessed and genotyped using the Sequenom MassArray iPLEX platform. RESULTS: Our study indicated a strong allele association was observed in PM/DM and PM patients for rs2230926 (OR: 1.61, 95%CI: 1.20-2.16, P(c = 7.5×10(-3; OR: 1.88, 95%CI: 1.30-2.74, P(c = 4.0×10(-3, respectively and rs5029939 (OR: 1.64, 95%CI: 1.21-2.21, P(c = 6.0×10(-3; OR: 1.88, 95%CI: 1.28-2.76, P(c = 5.5×10(-3, respectively. And rs2230926 and rs5029939 were significantly associated with interstitial lung disease (ILD in PM/DM and PM patients (P(c = 0.04 and P(c = 0.016; P(c = 0.02 and P(c = 0.03, respectively. In addition, rs4728142 allele and genotype had significant association with PM/DM patients (P(c = 0.026 and P(c = 0.048, respectively. Further analysis with three logistic regression genetic models revealed statistically significant difference in the genotypic distribution in the PM/DM, PM or DM patients when the additive and dominant models were used. CONCLUSIONS: This was the first study to reveal TNFAIP3 and IRF5 polymorphisms were associated with PM/DM patients or these patients with ILD, indicating that TNFAIP3 and IRF5 might be the susceptibility gene for PM

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

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    Gao, Jian [Tianjin Medical University, Tianjin (China)

    2013-03-15

    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, χ{sup 2} = 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, χ{sup 2} = 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, χ{sup 2} = 13.07, P = 0.0003, and C vs A of c.3073A>C: OR = 1.646, 95%CI = 1.322-2.049, χ{sup 2} = 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.

  1. 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.

  2. Association pattern of interleukin-1 receptor-associated kinase-4 gene polymorphisms with allergic rhinitis in a Han Chinese population.

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    Yuan Zhang

    Full Text Available OBJECTIVE: Interleukin-1 receptor-associated kinase-4 (IRAK-4 encodes a kinase that is essential for NF-kB activation in Toll-like receptor and T-cell receptor signaling pathways, indicating a possible crosstalk between innate and acquired immunities. We attempted to determine whether the polymorphisms in the Interleukin-1 receptor-associated kinase-4 (IRAK-4 gene are associated with allergic rhinitis (AR in the Han Chinese population. METHODS: A population of 379 patients with AR and 333 healthy controls was studied. Blood was drawn for DNA extraction and total serum immunoglobulin E (IgE. A total of 11 single nucleotide polymorphisms (SNPs in IRAK-4 were selected and individually genotyped. RESULTS: Significant allelic differences between cases and controls were obtained for the SNP of rs3794262 in the IRAK-4 gene. In the stratified analysis for gender, two SNPs (rs4251431 and rs6582484 in males appeared as significant associations. Subgroup analysis for the presence of different allergen sensitivities displayed associations only in the house dust mite-allergic cohorts (rs3794262, rs4251481. None of the selected SNPs in IRAK-4 was associated with total IgE level. The haplotype analysis indicated GCCTGCGA was significantly associated with AR. The SNP-SNP interaction information analysis indicated that the selected sets of polymorphisms had no synergistic effect. CONCLUSIONS: Our findings did not support the potential contribution of the IRAK-4 gene to serum IgE levels. However, the results demonstrated a gender- and allergen-dependant association pattern between polymorphisms in IRAK-4 and AR in Chinese population.

  3. Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population.

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    Jun Li

    Full Text Available Autism spectrum disorders (ASD are a group of neurodevelopmental disorders. Recent studies suggested that calcium channel genes might be involved in the genetic etiology of ASD. CACNA1A, encoding an alpha-1 subunit of voltage-gated calcium channel, has been reported to play an important role in neural development. Previous study detected that a single nucleotide polymorphism (SNP in CACNA1A confers risk to ASD in Central European population. However, the genetic relationship between autism and CACNA1A in Chinese Han population remains unclear. To explore the association of CACNA1A with autism, we performed a family-based association study. First, we carried out a family-based association test between twelve tagged SNPs and autism in 239 trios. To further confirm the association, the sample size was expanded to 553 trios by recruiting 314 additional trios. In a total of 553 trios, we identified association of rs7249246 and rs12609735 with autism though this would not survive after Bonferroni correction. Our findings suggest that CACNA1A might play a role in the etiology of autism.

  4. The Association between Polymorphism of CARD8 rs2043211 and Susceptibility to Arteriosclerosis Obliterans in Chinese Han Male Population

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    Kun Zhang

    2017-01-01

    Full Text Available Background and aims: Cholesterol crystals have been shown to cause inflammation. As a response to cholesterol crystal accumulation, the NLRP3 inflammasome is activated to produce IL-1β which eventually leads to atherosclerotic lesions. As a part of innate immunity, CARD8 is involved in the modulation of above mentioned inflammatory activities. The primary objective of this study was to investigate the association between polymorphism of CARD8 rs2043211 and susceptibility to arteriosclerosis obliterans (ASO in Chinese Han male population. Methods: 758 male arteriosclerosis obliterans patients and 793 male controls were genotyped for rs2043211 with the TaqMan allele assays. Fasting blood-glucose (FBG, total cholesterol (TC, triglycerides (TG, urea nitrogen, creatinine, Serum uric acid, high density lipoprotein, low density lipoprotein, ALT, AST, and IL-1β in the blood were detected for all subjects. Clinical data were recorded to analyze the genotype-phenotype. Independent samples t-test was used to perform the comparisons between two groups. Odds ratios (ORs with 95% confidence intervals (CIs were calculated to measure the strength of relationship in the genotype distribution and allele frequencies between patients and controls. The analysis of variance was used for a genotype-phenotype analysis of the ASO patients. Results: The genotypic and allelic frequencies in the ASO group were significantly different from that in the control group (P = 0.014 by genotype, P = 0.003 by allele. Those carrying the genotype TT had a higher risk for ASO than those carrying the genotype AA (OR = 1.494, 95%CI1.131-1.974, P = 0.005.The difference was also significant after the adjustment for the history of smoking, TC, LDL, fasting blood glucose, systolic blood pressure and BMI(OR = 1.525, 95%CI1.158-2.009, P = 0.003. Conclusion: Our finding suggests that the polymorphism of CARD8 rs2043211 is probably associated with the development of ASO in Chinese Han male

  5. Functional Polymorphisms of the ABCG2 Gene Are Associated with Gout Disease in the Chinese Han Male Population

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    Danqiu Zhou

    2014-05-01

    Full Text Available Background: Gout is a common type of arthritis that is characterized by hyperuricemia, tophi and joint inflammation. Genetic variations in the ABCG2 gene have been reported to influence serum uric acid levels and to participate in the pathogenesis of gout, but no further data have been reported in the Han Chinese population. Methods: Peripheral blood DNA was isolated from 352 male patients with gout and 350 gout-free normal male controls. High-resolution melting analysis and Sanger sequencing were performed to identify the genetic polymorphisms V12M, Q141K and Q126X in the ABCG2 gene. Genotype and haplotype analyses were utilized to determine the disease odds ratios (ORs. A prediction model for gout risk using ABCG2 protein function was established based on the genotype combination of Q126X and Q141K. Results: For Q141K, the A allele frequency was 49.6% in the gout patients and 30.9% in the controls (OR 2.20, 95% confidence interval (CI: 1.77–2.74, p = 8.99 × 10−13. Regarding Q126X, the T allele frequency was 4.7% in the gout patients and 1.7% in the controls (OR 2.91, 95% CI: 1.49–5.68, p = 1.57 × 10−3. The A allele frequency for V12M was lower (18.3% in the gout patients than in the controls (29% (OR 0.55, 95% CI 0.43–0.71, p = 2.55 × 10−6. In the order of V12M, Q126X and Q141K, the GCA and GTC haplotypes indicated increased disease risk (OR = 2.30 and 2.71, respectively. Patients with mild to severe ABCG2 dysfunction accounted for 78.4% of gout cases. Conclusion: The ABCG2 126X and 141K alleles are associated with an increased risk of gout, whereas 12M has a protective effect on gout susceptibility in the Han Chinese population. ABCG2 dysfunction can be used to evaluate gout risk.

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

    Science.gov (United States)

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

    2014-10-31

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

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

    Science.gov (United States)

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

    2017-01-01

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

  8. Common variants on 2p16.1, 6p22.1 and 10q24.32 are associated with schizophrenia in Han Chinese population.

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    Yu, H; Yan, H; Li, J; Li, Z; Zhang, X; Ma, Y; Mei, L; Liu, C; Cai, L; Wang, Q; Zhang, F; Iwata, N; Ikeda, M; Wang, L; Lu, T; Li, M; Xu, H; Wu, X; Liu, B; Yang, J; Li, K; Lv, L; Ma, X; Wang, C; Li, L; Yang, F; Jiang, T; Shi, Y; Li, T; Zhang, D; Yue, W

    2016-12-06

    Many schizophrenia susceptibility loci have been identified through genome-wide association studies (GWASs) in European populations. However, until recently, schizophrenia GWASs in non-European populations were limited to small sample sizes and have yielded few loci associated with schizophrenia. To identify genetic risk variations for schizophrenia in the Han Chinese population, we performed a two-stage GWAS of schizophrenia comprising 4384 cases and 5770 controls, followed by independent replications of 13 single-nucleotide polymorphisms in an additional 4339 schizophrenia cases and 7043 controls of Han Chinese ancestry. Furthermore, we conducted additional analyses based on the results in the discovery stage. The combined analysis confirmed evidence of genome-wide significant associations in the Han Chinese population for three loci, at 2p16.1 (rs1051061, in an exon of VRK2, P=1.14 × 10(-12), odds ratio (OR)=1.17), 6p22.1 (rs115070292 in an intron of GABBR1, P=4.96 × 10(-10), OR=0.77) and 10q24.32 (rs10883795 in an intron of AS3MT, P=7.94 × 10(-10), OR=0.87; rs10883765 at an intron of ARL3, P=3.06 × 10(-9), OR=0.87). The polygenic risk score based on Psychiatric Genomics Consortium schizophrenia GWAS data modestly predicted case-control status in the Chinese population (Nagelkerke R(2): 1.7% ~5.7%). Our pathway analysis suggested that neurological biological pathways such as GABAergic signaling, dopaminergic signaling, cell adhesion molecules and myelination pathways are involved in schizophrenia. These findings provide new insights into the pathogenesis of schizophrenia in the Han Chinese population. Further studies are needed to establish the biological context and potential clinical utility of these findings.Molecular Psychiatry advance online publication, 6 December 2016; doi:10.1038/mp.2016.212.

  9. 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.

  10. 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

    2017-02-01

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

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

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    Fu Zhenkun

    2009-11-01

    Full Text Available Abstract Background 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. Methods 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. Results 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

  12. Variants of autophagy-related gene 5 are associated with neuromyelitis optica in the Southern Han Chinese population.

    Science.gov (United States)

    Cai, Ping-Ping; Wang, Hong-Xia; Zhuang, Jing-Cong; Liu, Qi-Bing; Zhao, Gui-Xian; Li, Zhen-Xin; Wu, Zhi-Ying

    2014-12-01

    Neuromyelitis optica (NMO) and multiple sclerosis (MS) are autoimmune demyelinating diseases of the central nervous system. The discovery of NMO immunoglobulin G (NMO-IgG) antibody has improved the clinical definition of NMO. Recently, the autophagy-related genes (ATGs) have been proved to be associated with several autoimmune and inflammation diseases. Increased T cell expression of ATG5 may be correlated with the pathogenesis of inflammatory demyelination in MS. However, the association of ATG5 variants with MS and NMO patients has not been well studied. In this study, five ATG5 variants were genotyped in 144 MS patients, 109 NMO patients and 288 controls in the Han Chinese population. In the cohort of NMO patients, we observed that the CC genotype of rs548234 increased susceptibility to NMO (p = 0.016), while the allele T of rs548234 (p = 0.003) and the allele A of rs6937876 (p = 0.009) acted as protective factors for NMO-IgG positive NMO patients. However, no association was found between ATG5 variants and MS patients. These results indicated that ATG5 variants are associated with NMO but not MS patients, which may provide a clue for further clarifying the autoimmune mechanisms of autophagy-related pathogenesis in NMO.

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

    Science.gov (United States)

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

    2015-06-18

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

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

    Institute of Scientific and Technical Information of China (English)

    Fei Wang; Lei Shi; Qing-Yun Xue

    2016-01-01

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

  15. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  17. 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.

  18. Haplotype diversity of 13 RM Y-STRs in Chinese Han population and an update on the allele designation of DYF403S1.

    Science.gov (United States)

    Zhang, Wenqiong; Xiao, Chao; Wei, Tian; Pan, Chao; Yi, Shaohua; Huang, Daixin

    2016-07-01

    Rapidly mutating Y-STRs (RM Y-STRs) have been paid much attention in recent years. The 13 RM Y-STRs have been proved to have substantially higher haplotype diversity and discrimination capacity than conventionally used Y-STRs, indicating the considerable power in paternal lineage differentiation. To investigate the haplotype diversity in Chinese Han population, we collected 252 unrelated male samples and tested the genotype of the 13 RM Y-STRs. Among 252 male individuals, a total of 250 haplotypes were observed in which only 2 haplotypes were shared by 2 males respectively. The haplotype diversity reached 0.999937 and the discrimination capacity was 99.21%, showing a great discrimination power in Chinese Han population. In addition, an update on the allele designation of DYF403S1 was proposed.

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

    Science.gov (United States)

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

    2015-03-13

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

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

    Science.gov (United States)

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

    2015-07-01

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

  1. Relationship between LRP6 polymorphisms and sudden cardiac death in patients with chronic heart failure in Chinese han population

    Institute of Scientific and Technical Information of China (English)

    GUO Qi; CHU Jian-min; REN Lan; CHEN Xu-hua; PU Jie-lin; ZHANG Shu

    2016-01-01

    AIM:Chronic heart failure (CHF), caused by ischemic cardiomyopathy (ICM) and nonischemic cardiomyopathy (NICM), is among the leading causes of mortality and morbidity worldwide .Low-density lipoprotein receptor-related protein 6 (LRP6) plays a criti-cal role in regulating Wnt signaling .Dysregulated Wnt signaling contributes to high incidence of arrhythmias .Thus, there might be an association between genetic variations of LRP6 and sudden cardiac death ( SCD) .The objective of the study was to examine the associ-ation between common variants of LRP6 and prognosis of CHF patients .METHODS:From July 2005 to December 2009, patients with CHF referred from 10 hospitals and participants without structural heart disease in China were undergone a prospective study .The sin-gle-nucleotide polymorphism rs 2302684 was selected to evaluate the effect of LRP6 polymorphisms on the survival of the patients .RE-SULTS:A total of 1 887 patients (1 437 with CHF and 450 in the control group)were finally enrolled for the analysis.During a medi-an follow-up of 61 months, a total of 546 (38.00%) patients died, including 201(36.81%) cases with SCD and 345 (63.19%) ca-ses with NSCD.No end point event occurred in the control group .Patients carrying A allele of rs2302684 had increased risks of all-cause death (PA in LRP6 is associated with an increased risk of all-cause death and SCD in patients with CHF in Chinese Han population , and the association is more prevalent in patients with CHF caused by ICM.Thus, LRP6 might be added as a novel predictor of SCD and could provide an attractive and direct therapeutic target in SCD prevention .

  2. The characteristics of frequency distribution of KIR2DL1 alleles polymorphism and recognition HLA-C ligand in the Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    王苗

    2014-01-01

    Objective To find out the distributed characteristics of KIR2DL1 alleles frequencies and the recognition HLAC ligand in the Chinese Han population.Methods The111 patients and 116 donors from CMDP were performed the KIR2DL1 high-resoluction typing and KIR genotyping using sequence-based testing(SBT)and PCR-SSP methods.Results A total of 224

  3. 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

  4. The rs11191580 variant of the NT5C2 gene is associated with schizophrenia and symptom severity in a South Chinese Han population: evidence from GWAS

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    Zhen Li

    Full Text Available Objective: Recent genome-wide association studies have identified a significant relationship between the NT5C2 variant rs11191580 and schizophrenia (SCZ in European populations. This study aimed to validate the association of rs11191580 polymorphism with SCZ risk in a South Chinese Han population. The relationship of this polymorphism with the severity of SCZ clinical symptoms was also explored. Methods: A case-control study was performed in 462 patients with SCZ and 598 healthy controls. Rs11191580 was genotyped by the Sequenom MassARRAY iPLEX platform. A total of 459 SCZ patients completed the Positive and Negative Syndrome Scale (PANSS evaluation. Data were analyzed by PLINK software. Results: We confirmed an association of the rs11191580 polymorphism with SCZ risk in South Chinese Han under a dominant genetic model (ORadj = 0.769; 95%CIadj = 0.600-0.984; padj = 0.037. PANSS scores showed a significant association between variant rs11191580 and total score (padj = 0.032, lack of response scale score (padj = 0.022, and negative scale score (additive: padj = 0.004; dominant: padj = 0.016; recessive: padj = 0.021 after data were adjusted for age and sex. Conclusion: NT5C2 variant rs11191580 conferred susceptibility to SCZ and affected the clinical symptoms of SCZ in a South Chinese Han population.

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

    Science.gov (United States)

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

    2017-01-01

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

  6. Polymorphisms of the coagulation factor Ⅶ gene and its plasma levels in relation to acute cerebral infarction differences in allelic frequencies between Chinese Han and European populations

    Institute of Scientific and Technical Information of China (English)

    康文英; 王鸿利; 熊立凡; 王学锋; 储海燕; 璩斌; 刘湘帆; 尹俊; 段宝华; 王振义

    2004-01-01

    Background Coagulation factor Ⅶ (F Ⅶ) levels in plasma are usually related to ischemic heart disease (IHD) and cerebral infarction shares many of the risk factors related to IHD. Is there any relationship between factor Ⅶ and cerebral infarction? We investigated the relationship between F Ⅶ and acute cerebral infarction and reported genotype frequencies and allelic frequencies of FⅦ gene polymorphisms in the Chinese Han population.Methods We recruited 62 patients with acute cerebral infarction confirmed by magnetic resonance imaging (MRI) from Ruijin Hospital, and 149 age-matched patients clinically free of vascular disease to act as controls. All of them were unrelated, and were from the Chinese Han population. FⅦ coagulant activity (FⅦc) was determined using an clotting assay, activated FⅦ (FⅦa) and FⅦ Ag were assayed using enzyme immunoassay kits. The FⅦ gene polymorphisms to be detected included-401G/T, -402G/A, 5'F7A1/A2, IVS7 and R353Q. 5'F7 and IVS7 were revealed by means of a PCR and direct agarose gel electrophoresis. The rest were examined by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The results showed that FⅦc, FⅦAg and FⅦa were higher in the acute cerebral infarction group than in the control group (P<0.01, P<0.05, P<0.05, respectively). There were no significant differences in the genotype frequencies of FⅦ gene polymorphisms between the two groups. The allelic frequencies in the Chinese Han population were as follows: -401G/T (96.64/3.36), -402G/A (52.01/47.99), 5'F7A1/A2(96.64/3.36), IVS7 H5/H6/H7/H8 (0.34/52.35/46.98/0.34) and R353Q (95.64/4.36). There were significant differences (P<0.01, P<0.001, P<0.001, P<0.001, P<0.001, respectively) in these allelic frequencies between the Chinese Han and European populations.Conclusions The results indicate that increased plasma FⅦ levels may contribute to thrombosis in cerebral infarction. And there was no significant difference

  7. Construction of two fluorescence-labeled non-combined DNA index system miniSTR multiplex systems to analyze degraded DNA samples in the Chinese Han Population.

    Science.gov (United States)

    Bai, Xue; Li, Shujin; Cong, Bin; Li, Xia; Guo, Xia; He, Lujun; Ye, Jian; Pei, Li

    2010-09-01

    MiniSTR loci have been demonstrated to be an effective approach in recovering genetic information from degraded specimens, because of the reduced PCR amplicon sizes which improved the PCR efficiency. Eight non-combined DNA index system miniSTR loci suitable for the Chinese Han Population were analyzed in 300 unrelated Chinese Han individuals using two novel five fluorescence-labeled miniSTR multiplex systems(multiplex I: D10S1248, D2S441, D1S1677 and D9S2157; multiplex II: D9S1122, D10S1435, D12ATA63, D2S1776 and Amelogenin). The allele frequency distribution and forensic parameters in the Chinese Han Population were reported in this article. The Exact Test demonstrated that all loci surveyed here were found to be no deviation from Hardy-Weinberg equilibrium. The accumulated power of discrimination and power of exclusion for the eight loci were 0.999999992 and 0.98, respectively. The highly degraded DNA from artificially degraded samples and the degraded forensic case work samples was assessed with the two miniSTR multiplex systems, and the results showed that the systems were quite effective.

  8. Apolipoprotein AI gene polymorphisms and risk for coronary artery disease in Chinese Xinjiang Uygur and Han population

    Institute of Scientific and Technical Information of China (English)

    杨胜利; 何秉贤; 洪秀芳; 邹阳春; 刘明军

    2001-01-01

    Xinjiang Uygur and Han population.

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

    Institute of Scientific and Technical Information of China (English)

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

    2016-01-01

    Background:Ankylosing spondylitis (AS) is the most common rheumatic condition that is slowly progressive and predominantly affects adolescents.Pathological bone formation associated with AS is an important cause of disability.The aim of the study was to investigate the possible involvement of the genes related to endochondral ossification and ectopia ossification in genetic susceptibility to AS in a Chinese Han population.Methods:Sixty-eight single nucleotide polymorphisms (SNPs) from 13 genes were genotyped in discovery cohorts including 300 AS patients and 180 healthy controls.The rs10019009 in dentin matrix protein 1 (DMP1) gene shown as association with AS after multiple testing corrections in discovery cohorts was replicated in a validation independent cohort of 620 AS patients and 683 healthy controls.The rs 10019009 was assessed with bioinformatics including phylogenetic context,F-SNP and FastSNP functional predictions,secondary structure prediction,and molecular modeling.We performed a functional analysis of rs10019009 via reverse transcription-polymerase chain reaction,alkaline phosphatase (ALP) activity in human osteosarcoma U2OS cells.Results:Interestingly,the SNP rs10019009 was associated with AS in both the discovery cohort (P =0.0012) and validation cohort (P =0.0349),as well as overall (P =0.0004) in genetic case-control association analysis.After a multivariate logistic regression analysis,the effect of this genetic variant was observed to be independent of linkage disequilibrium.Via bioinformatics analysis,it was found that the amino acid change of the rs10019009 led to changes of SNP function,secondary structure,tertiary conformation,and splice mode.Finally,functional analysis of rs 10019009 in U2OS cells demonstrated that the risk T allele of the rs 10019009 increased enzymatic activity of ALP,compared to that of the nonrisk allele (P =0.0080).Conclusions:These results suggested that the DMP1 gene seems to be involved in genetic predisposition to

  10. 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

  11. Association between genetic variants of the leukotriene biosynthesis pathway and the risk of stroke: a case-control study in the Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    SUN Hao; ZHANG Jing; WANG Jun; SUN Tao; XIAO Hang; ZHANG Jin-song

    2013-01-01

    Background Leukotrienes are arachidonic acid derivatives long known for their inflammatory properties.Leukotrienebased inflammation has been demonstrated to play a crucial role in atherosclerosis,a major risk factor for several human diseases.Recently,human genetic studies from us and others suggest that single nucleotide polymorphisms (SNPs) in leukotriene pathway genes influence the risk of atherosclerotic diseases such as stroke.This study aimed to assess the role of additional leukotriene pathway genes as a stroke risk factor within the Chinese Han population.Methods We sequenced the promoter,exonic,and intronic regions of leukotriene A4 hydrolase (LTA4H) and arachidonate 5-lipoxygenase (ALOX5),and then genotyped five SNPs in LTA4H and four SNPs in ALOX5 among 691 cases with stroke and 732 controls from the Chinese population.Results We detected a significant association between an intronic SNP in LTA4H (rs6538697) and stroke in our subjects (adjusted odds ratio,recessive model,1.75; P=0.022); and the SNP rs2029253 in ALOX5 was associated with a decreased risk of stroke (adjusted odds ratio,0.76; 95% confidence interval,0.59-0.97).Conclusion Genetic variants in LTA4H and ALOX5 may modulate the risk of stroke in the Chinese Han population.

  12. 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.

  13. Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.

    Directory of Open Access Journals (Sweden)

    Shi-Rui Gan

    Full Text Available Spinocerebellar ataxia type 3 (SCA3, also called Machado-Joseph disease (MJD, is one of the most common SCAs worldwide and caused by a CAG repeat expansion located in ATXN3 gene. Based on the CAG repeat numbers, alleles of ATXN3 can be divided into normal alleles (ANs, intermediate alleles (AIs and expanded alleles (AEs. It was controversial whether the frequency of large normal alleles (large ANs is related to the prevalence of SCA3 or not. And there were huge chaos in the comprehension of the specific numbers of the range of CAG repeats which is fundamental for genetic analysis of SCA3. To illustrate these issues, we made a novel CAG repeat ladder to detect CAG repeats of ATXN3 in 1003 unrelated Chinese normal individuals and studied haplotypes defined by three single nucleotide polymorphisms (SNPs closed to ATXN3. We found that the number of CAG repeats ranged from 13 to 49, among them, 14 was the most common number. Positive skew, the highest frequency of large ANs and 4 AIs which had never been reported before were found. Also, AEs and large ANs shared the same haplotypes defined by the SNPs. Based on these data and other related studies, we presumed that de novo mutations of ATXN3 emerging from large ANs are at least one survival mechanisms of mutational ATXN3 and we can redefine the range of CAG repeats as: ANs≤44, 45 ≤AIs ≤49 and AEs≥50.

  14. Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.

    Science.gov (United States)

    Gan, Shi-Rui; Ni, Wang; Dong, Yi; Wang, Ning; Wu, Zhi-Ying

    2015-01-01

    Spinocerebellar ataxia type 3 (SCA3), also called Machado-Joseph disease (MJD), is one of the most common SCAs worldwide and caused by a CAG repeat expansion located in ATXN3 gene. Based on the CAG repeat numbers, alleles of ATXN3 can be divided into normal alleles (ANs), intermediate alleles (AIs) and expanded alleles (AEs). It was controversial whether the frequency of large normal alleles (large ANs) is related to the prevalence of SCA3 or not. And there were huge chaos in the comprehension of the specific numbers of the range of CAG repeats which is fundamental for genetic analysis of SCA3. To illustrate these issues, we made a novel CAG repeat ladder to detect CAG repeats of ATXN3 in 1003 unrelated Chinese normal individuals and studied haplotypes defined by three single nucleotide polymorphisms (SNPs) closed to ATXN3. We found that the number of CAG repeats ranged from 13 to 49, among them, 14 was the most common number. Positive skew, the highest frequency of large ANs and 4 AIs which had never been reported before were found. Also, AEs and large ANs shared the same haplotypes defined by the SNPs. Based on these data and other related studies, we presumed that de novo mutations of ATXN3 emerging from large ANs are at least one survival mechanisms of mutational ATXN3 and we can redefine the range of CAG repeats as: ANs≤44, 45 ≤AIs ≤49 and AEs≥50.

  15. 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

  16. 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

  17. APOLIPOPROTEIN E GENE POLYMORPHISMS AND RISK FOR CORONARY ARTERY DISEASE IN CHINESE XINJIANG UYGUR AND HAN POPULATION

    Institute of Scientific and Technical Information of China (English)

    Sheng-li Yang; Bing-xian He; Hui-liang Liu; Zuo-yun He; Hua Zhang; Jian-ping Luo; Xiu-fang Hong; Yang-chun Zou

    2004-01-01

    Objective To examine the relationship between apolipoprotein E (Apo E) gene polymorphism and risk of coronaryartery disease (CAD), analyzing association of polymorphism with classical risk factors.Methods A total of 124 patients (including 84 Han population and 40 Uygur population) with angiographically verified CAD or myocardial infarction were prospectively evaluated. Data referring to hypertension, diabetes, and tobacco consumption were recorded. The levels of total cholesterol (TC), high density lipoprotein (HDL) cholesterol, Apo A1 and B, and triglycerides (TG) were determined. DNA was obtained from 124 patients and 70 controls. In order to determine Apo E genotypes, DNA was PCR amplified and digested with HhaI. The genetic polymorphism of Apo E is due to three common alleles, epsilon (ε) 2, ε3, ε4, at a single autosomal gene locus. These alleles determine the six phenotypes E2/2, E3/3, E4/4,E4/2, E4/3, and E3/2.Results In Uygur population, the frequency of the ε2, ε3, and ε4 was 0.155, 0.648, and 0.197 respectively. In Han population, the frequency of the ε2, ε3, and ε4 was 0.081, 0.772, and 0.146 respectively. In the patient group, the frequency of the ε2, ε3, and ε4 was 0.060, 0.758, and 0.182 respectively. In the control group, the frequency of the ε2, ε3, and ε4 was 0.193, 0.671, and 0.136 respectively. ε2 frequency of Uygur' patients and controls was 0.050 and 0.290 respectively. Serum low density lipoprotein (LDL) cholesterol, TC, and TG values tended to decrease from the Apo E-4 phenotypes to Apo E-2phenotypes. When deletion polymorphism ofε2 was compared with the common risk factors for CAD, its risk ratio (RR) is 4.38.Conclusions These studies confirm and find that Apo E phenotype distribution in Uygur population differs significantly from that in Han population in Xinjiang. CAD patients have significantly lower ε2 allele and slightly higher ε3 or ε4 allele frequency than controls, especially in Uygur population. It shows

  18. 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; 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.

  19. Lack of association between SREBF-1c gene polymorphisms and risk of non-alcoholic fatty liver disease in a Chinese Han population

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    Peng, Xian-E.; Chen, Feng-Lin; Liu, Wenjuan; Hu, ZhiJian; Lin, Xu

    2016-01-01

    The transcription factor sterol regulatory element-binding protein-1c (SREBP-1c) is a key regulator of lipogenesis and insulin sensitivity, and is associated with non-alcoholic fatty liver disease (NAFLD). Here, we assessed the impact of common single nucleotide polymorphisms (SNPs) in SREBF-1c on NAFLD susceptibility and associated metabolic phenotypes in a Han Chinese population. Four common SNPs (rs62064119, rs2297508, rs11868035 and rs13306741) in the SREBP-1c gene were selected and genotyped in 593 patients with NAFLD and 593 healthy controls. Unconditional logistic regression was performed to assess the risk of NAFLD by determining odds ratios and 95% confidence intervals (CIs). No significant differences in genotype and allele frequencies of these four SNPs were found between the NAFLD population and the controls (all P > 0.05). In addition, we did not find any association between the SREBF-1c SNPs and the clinical and biochemical parameters, such as body mass index, total cholesterol, high density lipoprotein-and low density lipoprotein-cholesterol or systolic and diastolic blood pressure, except that the rs2297508 C-allele or rs11868035 G-allele showed significant associations with lower triglyceride levels in control subjects (P < 0.01). Our findings suggested that the four polymorphisms in SREBF-1c gene are not associated with risk of NAFLD in the Chinese Han population. PMID:27572914

  20. 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.

  1. Association between the biochemical profiles in blood and bone mineral density in Chinese Han population: findings from a cross-sectional study

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    Chen HX

    2016-11-01

    Full Text Available Hong-Xia Chen,1,2,* Li-Bing Wu,3,* Zhong-Ji Meng1 1Institute of Biomedicine, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei Province, People’s Republic of China; 2Department of Environmental, Agricultural, & Occupational Health, College of Public Health, University of Nebraska Medical Center, Omaha, NE, USA; 3Department of Nuclear Medicine, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei Province, People’s Republic of China *These authors contributed equally to this work. Abstract: This study investigated the possible correlation between blood biochemical profiles and bone mineral density (BMD in the Chinese Han population. We conducted a cross-sectional analysis using participants randomly selected from the Health Screening Center of Taihe Hospital, Hubei University of Medicine, which included a total of 285 individuals, varied in ages from 31 years to 63 years. The height, weight, and body mass index (BMI of each subject were measured, as well as fasting blood glucose (FBG, triglycerides, total cholesterol, blood uric acid (UA, blood urea nitrogen, and blood creatinine. We evaluated BMD at the wrist (grams per centimeter square using a dual-energy X-ray absorptiometry scan. The mean ages of female and male groups were 45.32±8.24 years and 46.76±9.01 years, respectively. The mean age of the study population was 46.14±8.79 years, which is similar to the general population. The mean BMI values were 22.08±2.38 kg/m2 and 24.50±2.67 kg/m2 in the female and male population, respectively, representing a statistically significant difference (P<0.05. No significant differences in levels of FBG total cholesterol, or triglycerides were seen among the male and female population. Multiple linear regression analysis was performed using BMD as outcome variables and BMI, blood UA, FBG, total cholesterol, triglycerides, urea nitrogen, and blood creatinine as covariates, and the regression equation was established as Y=0

  2. Association between interleukin-6 gene polymorphisms and rheumatoid arthritis in Chinese Han population: a case-control study and a meta-analysis.

    Science.gov (United States)

    Li, Feng; Xu, Jing; Zheng, Jiatian; Sokolove, Jeremy; Zhu, Kai; Zhang, Yuanchao; Sun, Hongsheng; Evangelou, Evangelos; Pan, Zhenglun

    2014-07-17

    The aim of this study was to investigate the possible association in the interleukin-6 (IL-6) gene with Rheumatoid arthritis (RA) in Chinese Han population from Shandong Province. Target regions of IL-6 gene were amplified by polymerase chain reaction (PCR) and genotyped. A logistic regression analysis was performed to detect potential associations in our case-control sample, the odd ratio(OR) and 95% confidence intervals(CIs) were calculated. Furthermore, we systematically tracked all the published studies in the field and performed a meta-analysis for the single nucleotide polymorphisms (SNPs) under study. 256 RA patients and 331 healthy controls were recruited into the case-control study. We found allele frequencies of rs1800795, rs1800797 and rs1474347 in RA patients differ from control subjects (P = 0.016, 0.024, 0.020, respectively). Significant difference was observed in haplotype frequencies of GCCGCT between RA patients and controls (P = 0.0001, OR = 4.066, 95%CI = 1.891 ~ 8.746), while GGCGCT frequencies was found lower in RA than controls (P = 0.006, OR = 0.669, 95%CI = 0.501 ~ 0.894). The results of the meta-analysis showed association polymorphism within the IL-6 promoter with RA. These findings suggest that rare IL-6 gene polymorphisms may associate with RA susceptibility in Han Chinese populations; however further studies are needed to assess the validity of the association of IL-6 with RA.

  3. Genetic polymorphism of matrix metalloproteinase-1 and coronary artery disease susceptibility: a case-control study in a Han Chinese population.

    Science.gov (United States)

    Qintao, Cui; Yan, Li; Changhong, Duan; Xiaoliang, Guo; Xiaochen, Liu

    2014-12-01

    Coronary artery disease (CAD) receives intensive research due to its high incidence and severe impact on the quality of life. One member of the matrix metalloproteinases (MMPs), MMP-1, has been reported to be associated with CAD. To identify the markers contributing to the genetic susceptibility to CAD, nine single-nucleotide polymorphisms (rs1799750, rs498186, rs475007, rs514921, rs494379, rs996999, rs2071232, rs1938901, and rs2239008) throughout the MMP-1 gene were genotyped using MALDI-TOF within the MassARRAY system, and the allele and genotype distributions were compared between 438 healthy controls and 411 patients with CAD from a Chinese Han population. The analysis revealed a weak association between the rs1799750 (in the promoter region) genotype distribution and CAD (p=0.022). An increased risk of CAD was significantly associated with the 2G allele of rs1799750 (p=0.005, odds ratio=1.329, 95% confidence interval=1.090-1.620, after Bonferroni corrections). Strong linkage disequilibrium was observed in three blocks (D'>0.9). Significantly more C-2G (rs498186-rs1799750) haplotypes (p=0.001 after Bonferroni corrections) were found in CAD subjects. These findings point to a role for the polymorphism in the MMP-1 promoter in CAD among a Han Chinese population and may be informative for future genetic or biological studies on CAD.

  4. Association between the interleukin-13 gene and development of chronic obstructive pulmonary disease in southern Chinese Han population: a case-control study

    Institute of Scientific and Technical Information of China (English)

    GONG Yi; SHI Guo-chao; WAN Huan-ying; YANG Kun; PAN Chun-ming; CHENG Qi-jian; DAI Ran-ran

    2013-01-01

    Background Interleukin-13 (IL-13) has been implicated to be responsible for recruitment of inflammatory cells from the blood to the lung,regulation of matrix metalloproteinase and induction of mucin production and secretion in chronic obstructive pulmonary disease (COPD).We determined plasma IL-13 levels in patients with COPD and investigated its association with common polymorphisms of IL-13 gene in a case-control study.Methods We genotyped 160 cases and 175 control subjects in a local hospital using Mass-ArrayTM Technology Platform then tested the association of four SNPs in IL-13 (rs1295685,rs1800925,rs1881457,rs20541) with COPD,and then determined plasma IL-13 levels in patients with COPD and controls.Results Association was found between IL-13 gene SNPs (rs20541 and rs1800925) and an increased risk of COPD.By linkage disequilibrium (LD) analysis,two blocks (rs1881457 and rs1800925; rs20541 and rs1295685) were found.The risk of COPD was found associated with the IL-13 gene polymorphism among southern Chinese Han population.Plasma IL-13 level was increased in COPD patients compared with controls.Conclusions The polymorphism of the IL-13 gene is associated with an increased risk of COPD in southern Chinese Han population.Plasma IL-13 levels were found elevated in patients with COPD.

  5. [Discovery of a novel A2 allel in ABO blood group system and investigation of its distribution in Han population of Chinese Fujian province].

    Science.gov (United States)

    Zhang, Ai; Chi, Quan; Ren, Ben-Chun

    2012-10-01

    This study was aimed to investigate the distribution of A2 subgroup in Han Population of Chinese Fujian province and its molecular mechanisms. One individual with serologic ABO blood grouping discrepancy was identified with commercially available monoclonal and polyclonal antibodies and lectin: anti-A, anti-B, anti-AB, anti-A1, and anti-H reagents according to the routine laboratory methods. DNA sequences of exon 6, 7 and intron 6 of ABO gene were analyzed by polymerase chain reaction using genomic DNA and direct DNA sequencing or sequencing after gene cloning. Red cells of 3 176 A or AB unrelated individuals were tested with anti-A1. The results showed that this individual was identified as A2 subgroup by serological technology, sequencing analysis indicated the A2 subgroup with novel A variant allele, the novel A allele being different from the allele A101 by 467C > T and 607G > A missense mutation in exon 7, no A2 subgroup was identified from the 3 176 individuals by using standard serological technology. It is concluded that a novel A allele responsible for A2 subgroup composing of 467C > T and 607G > A has been firstly confirmed, and the A2 subgroup is very rare in Chinese Fujian Han population.

  6. Polymorphisms in MicroRNA Genes And Genes Involving in NMDAR Signaling and Schizophrenia: A Case-Control Study in Chinese Han Population.

    Science.gov (United States)

    Zhang, Yanxia; Fan, Mei; Wang, Qingzhong; He, Guang; Fu, Yingmei; Li, Huafang; Yu, Shunying

    2015-08-10

    Disturbances in glutamate signaling caused by disruption of N-methyl-D-aspartate-type glutamate receptor (NMDAR) have been implicated in schizophrenia. Findings suggested that miR-219, miR-132 and miR-107 could involve in NMDAR signaling by influencing the expression of pathway genes or the signaling transmission and single nucleotide polymorphisms (SNPs) within miRNA genes or miRNA target sites could result in their functional changes. Therefore, we hypothesized that SNPs in miRNAs and/or their target sites were associated with schizophrenia. 3 SNPs in hsa-pri-miR-219/132/107 and 6 SNPs in 3'UTRs of GRIN2A/2B/3A and CAMK2G were selected and genotyped in a case-control study of 1041 schizophrenia cases and 953 healthy controls in Chinese Han population. In the present study, GRIN2B rs890 showed significant associations with schizophrenia. Further functional analyses showed that the rs890 variant C allele led to significantly lower luciferase activity, compared with the A allele. MDR analysis showed that a 4-locus model including rs107822, rs2306327, rs890 and rs12342026 was the best model. These findings suggest that GRIN2B may be associated with schizophrenia and interaction effects of the polymorphisms in hsa-miR-219, CAKM2G, GRIN2B and GRIN3A may confer susceptibility to schizophrenia in the Chinese Han population.

  7. Applications of the method of high resolution melting analysis for diagnosis of Leber's disease and the three primary mutation spectrum of LHON in the Han Chinese population.

    Science.gov (United States)

    Cui, Guanglin; Ding, Hu; Xu, Yujun; Li, Bin; Wang, Dao Wen

    2013-01-01

    Current screening methods, such as single strand conformational polymorphism (SSCP), denaturing high performance liquid chromatography (dHPLC) and direct DNA sequencing that are used for detecting mutation in Leber's hereditary optic neuropathy (LHON) subjects are time consuming and costly. Here we tested high-resolution melt (HRM) analysis for mtDNA primary mutations in LHON patients. In this study, we applied the high resolution melting (HRM) technology to screen mtDNA primary mutations in 50 LHON patients from their peripheral blood. In order to evaluate the reliability of this technique, we compared the results obtained by HRM and direct mtDNA sequencing. We also investigated the spectrum of three most common mtDNA mutations implicated in LHON in the Han Chinese population. The results showed HRM analysis differentiated all of the mtDNA primary mutations and identified 4 additional mtDNA mutations from 50 patients in the blind study. The prevalence of three primary mutations were 11778G>A (87.9%), 14484T>C (6.5%) and 3460G>A (1.7%) in the Han Chinese population. In conclusion, HRM analysis is a rapid, reliable, and low-cost tool for detecting mtDNA primary mutations and has practical applications in molecular genetics.

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

    Science.gov (United States)

    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 (pMSCEIT) were significantly higher in FEDN than in chronic patients (all p<0.05). FEDN exhibited relative weakness in continuous performance, whereas chronic patients exhibited relative weakness in mazes. Multiple regression analysis confirmed that in FEDN and chronic patients, total score and negative symptom of PANSS were independent contributors to MCCB total score, respectively. Our results not only demonstrate the applicability of the MCCB as a sensitive measure of cognitive impairment for schizophrenia patients in a Chinese Han population, but also suggest that the compromised cognition is present in the early stage of schizophrenia, some of which could be more severe in the chronic stage of illness.

  9. Polymorphism - 116C/G of the human X box binding protein 1 gene is associated with risk of type 2 diabetes in a Chinese Han population.

    Science.gov (United States)

    Liu, Shengyuan; Ma, Guoda; Yao, Songpo; Chen, Zhongwei; Wang, Changyi; Zhao, Bin; Li, Keshen

    2016-01-01

    Evidence has been obtained showing that endoplasmic reticulum (ER) stress is closely associated with the development of type 2 diabetes (T2D) and that the human X box binding protein 1 (XBP1) is an important transcription factor involved in the development of ER stress. The study aimed to analyze the potential association between polymorphism -116C/G of XBP1 and the risk of T2D. The association between XBP1 polymorphism -116C/G and T2D risk was assessed among 1058 consecutive unrelated subjects, including 523 T2D patients and 535 healthy controls, in a case control study. The -116GG genotype and -116G allele were more frequent in T2D subjects compared with control subjects by statistical analysis, showing that the -116GG homozygote polymorphism of XBP1 might lead to increased susceptibility to T2D in a Chinese Han population. T2D subjects with the -116GG genotype had higher fasting plasma glucose levels, fasting insulin levels, and HbA1c and worse HOMA-IR than the T2D subjects with -116CG and -116CC genotypes (PG polymorphism of the XBP1 promoter in the pathogenesis of T2D in a Chinese Han population, and more studies are needed to further evaluate our results.

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

    Directory of Open Access Journals (Sweden)

    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.

  11. 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.

  12. 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.

  13. Variations in the calpain-10 gene are associated with the risk of type 2 diabetes and hypertension in northern Han Chinese population

    Institute of Scientific and Technical Information of China (English)

    CHEN Shu-feng; LU Xiang-feng; YAN Wei-li; HUANG Jian-feng; GU Dong-feng

    2007-01-01

    Background Calpain-10(CAPN10)has been identified as a susceptibility gene in type 2 diabetes mellitus (T2DM) and insulin resistance.The present study aimed to identify the effects of genetic variations in the CAPN10 gene on the development of type 2 diabetes and hypertension in northern Han Chinese population.Methods We performed a case-control study and genotyped single nucleotide polymorphism(SNP)-44,-43,-19 and -63 of CAPN10 gene in 1046 subjects from the northern China,including 493 patients with T2DM and hypertension and 553 age-and gender-matched normal healthy controls.Results Univariate analysis showed that the four polymorphisms were not independently associated with T2DM and hypertension.However,the frequency distributions of SNP-44 allele C(allele 2)(17.89% vs 9.80%,P=0.0016)and genotype CC(22)(4.21% vs 1.01%,P=0.0059)in obese patients(body mass index≥30 kg/m2)were different from those in non-obese patients.Logistic regression analyses revealed that carriers of lhe 1112/1221 diplotype had a significantly lower odds ratio for diabetes and hypertension(OR=0.399,95% CI,0.196-0.814,P=0.0115).The 1112/1121 diplotype associated with significantly increased risk of type 2 diabetes in Mexican-American was not associated with the increased risk in Chinese.Conclusion These results suggested that CAPN10 gene variations might play roles in the risk of diabetes and hypertension in northern Han Chinese population.

  14. An association study between DLGAP1 rs11081062 and EFNA5 rs26728 polymorphisms with obsessive–compulsive disorder in a Chinese Han population

    Directory of Open Access Journals (Sweden)

    Li J

    2015-04-01

    Full Text Available Jiang Li,1 Jiajia Cui,2 Xiuhai Wang,3 Jianhua Ma,4 Haitao Niu,4 Xu Ma,5–7 Xinhua Zhang,2,4 Shiguo Liu8 1Physiatry Department, The Affiliated Hospital of Qingdao University, 2Department of Psychiatry, 3Department of Genetics, Medical College, Qingdao University, 4The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of China; 5Graduate School, Peking Union Medical College, 6National Research Institute for Family Planning, 7World Health Organization Collaborating Centre for Research in Human Reproduction, Beijing, People’s Republic of China; 8Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of China Background: A recent genome-wide association study indicated that the single nucleotide polymorphisms (SNPs rs11081062 in DLGAP1 and rs26728 in EFNA5 were associated with obsessive–compulsive disorder (OCD in Caucasians. The present case–control association study assessed the global relevance of these two SNPs with respect to OCD subtypes in a Chinese Han population. Methods: We recruited 320 OCD patients and 431 age- and sex-matched controls from a Chinese Han population. rs11081062 and rs26728 SNPs were genotyped by real-time TaqMan polymerase chain reaction, and the chi-squared test was used to compare allele and genotype frequencies of variants between the two groups. Results: No significant differences were found in allele or genotype frequencies of DLGAP1 rs11081062 and EFNA5 rs26728 between the OCD and control groups. Moreover, consistently negative results were observed when classifying by sex, onset age, and comorbidity. However, on analyzing OCD subphenotypes, significant associations were observed between rs11081062 and the presence of contamination obsessions and cleaning compulsions (χ2=7.724, P=0.021 by genotype; χ2=3.745, P=0.053 by allele; and χ2=0.821, P=0.365 by genotype, χ2=27.809, P=0.000 by allele, respectively, and rs26728 with the presence of

  15. 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.

  16. Association of Adiponectin Gene Polymorphisms With the Risk of Coronary Artery Disease in Patients With Nonalcoholic Fatty Liver Disease in a Chinese Han Population

    Science.gov (United States)

    Du, Shui-Xian; Lu, Lin-Lin; Liu, Yang; Dong, Quan-Jiang; Xuan, Shi-Ying; Xin, Yong-Ning

    2016-01-01

    Background Cardiovascular events are an independent risk factor for nonalcoholic fatty liver disease (NAFLD), which is the leading cause of mortality in NAFLD patients. Several recent studies demonstrated that adiponectin (Ad) polymorphisms were involved in the progression of NAFLD and coronary artery disease (CAD). However, reports on the association between Ad polymorphisms and the risk of developing CAD in NAFLD patients are lacking in a Northern Han Chinese population. Objectives The present study was designed to evaluate the association between Ad gene polymorphisms (rs266729 and rs2241766) and the risk of developing CAD in Northern Han Chinese patients with NAFLD. Materials and Methods In this case-control study, using the polymerase chain reaction (PCR), Adrs266729 and rs2241766 gene polymorphisms were genotyped in B-type ultrasonography-proven NAFLD patients, with (n = 246) or without (n = 247) CAD and in healthy controls (n = 304). Serum lipid profiles were determined using biochemical methods. Statistical analyses were performed using SPSS 17.0 statistical software. Results There were significant differences in the Adrs266729 G allele between the NAFLD patients with and without CAD (P < 0.05). In addition, there was a significant difference in the Adrs2241766 G allele of the NAFLD patients compared with that of the controls (P < 0.05). In the NAFLD CAD population, carriers of the G allele of Adrs266729 had higher serum triglycerides (TG), total cholesterol (TC), fasting plasma glucose (FPG), and low-density lipoprotein (LDL) levels and a lower Ad level than their noncarrier counterparts (P = 0.031, P = 0.034, P = 0.007, P < 0.001, and P < 0.001, respectively). NAFLD patients without CAD had higher TG and serum FPG values and a lower Ad level than their noncarrier counterparts (P = 0.014, P = 0.038, and P < 0.001, respectively). In the NAFLD patients with/without CAD, the carriers of the G allele of Adrs2241766 had higher TG levels (P = 0.039 and P = 0

  17. Genetic variation in WDR1 is associated with gout risk and gout-related metabolic indices in the Han Chinese population.

    Science.gov (United States)

    Liu, L J; Zhang, X Y; He, N; Liu, K; Shi, X G; Feng, T; Geng, T T; Yuan, D Y; Kang, L L; Jin, T B

    2016-04-28

    Gout is the most common form of inflammatory arthritis affecting men, and current evidence suggests that genetic factors contribute to its progression. As a previous study identified that WD40 repeat protein 1 (WDR1) is associated with gout in populations of European descent, we sought to investigate its relationship with this disease in the Han Chinese population. We genotyped six WDR1 single nucleotide polymorphisms in 143 gout cases and 310 controls using Sequenom MassARRAY technology. The SPSS 16.0 software was used to perform statistical analyses. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression, with adjustments for age and gender. In an analysis using an allelic model, we identified that the minor alleles of rs3756230 (OR = 0.64, 95%CI = 0.450-0.911, P = 0.013) and rs12498927 (OR = 1.377, 95%CI = 1.037-1.831, P = 0.027) were associated with gout risk. In addition, we found that the "A/A" genotype of rs12498927 was associated with increased risk of gout under codominant (OR = 2.22, 95%CI = 1.12- 4.40, P = 0.042) and recessive models (OR = 2.24, 95%CI = 1.20-4.17, P = 0.012). We also determined the "A/G" genotype of rs12498927 to be significantly associated with higher urea levels in gout patients (P = 0.017). Our data shed new light on the association between genetic variations in the WDR1 gene and gout susceptibility in the Han Chinese population.

  18. Investigation of a Possible Role for the Histidine Decarboxylase Gene in Tourette Syndrome in the Chinese Han Population: A Family-Based Study

    Science.gov (United States)

    Liu, Meixin; Xu, Longqiang; Li, Qiang; Zhang, Ru; Zhang, Xin; Liu, Shiguo

    2016-01-01

    Tourette syndrome (TS) is a polygenic neuropsychiatric disease. Previous studies have indicated that dysregulation in the histaminergic system may play a crucial role in disease onset. In this study, we investigated the role of the histidine decarboxylase gene (HDC) in TS susceptibility in the Chinese Han population. After genotyping 241 TS nuclear families trios, we analyzed three tag HDC single nucleotide polymorphisms (rs854150, rs854151, and rs854157) in a family-based study using the transmission disequilibrium test (TDT) and haplotype relative risk (HRR). TDT showed no over-transmission in these SNPs across the HDC region (for rs854150: χ2 = 0.472, P = 0.537, OR = 1.097, 95%CI = 0.738–1.630; for rs854151: χ2 = 0.043, P = 0.889, OR = 1.145, 95%CI = 0.767–1.709; for rs854157:χ2 = 0.984, P = 0.367, OR = 1.020, 95%CI = 0.508–2.049). HRR also showed the same tendency (for rs854150: χ2 = 0.211, P = 0.646, OR = 1.088, 95%CI = 0.759–1.559; for rs854151: χ2 = 0.134, P = 0.714, OR = 0.935, 95%CI = 0.653–1.339; for rs854157:χ2 = 0.841, P = 0.359, OR = 1.206, 95%CI = 0.808–1.799). Additionally, the haplotype-based haplotype relative risk showed a negative association. Although these findings indicate an unlikely association between HDC and TS in the Chinese Han population, a potential role for HDC cannot be ruled out in TS etiology. Future research should investigate this more thoroughly using different populations and larger samples. PMID:27529419

  19. Relationship between human LTA4H polymorphisms and extra-pulmonary tuberculosis in an ethnic Han Chinese population in Eastern China.

    Science.gov (United States)

    Yang, Jinghui; Chen, Jin; Yue, Jun; Liu, Lirong; Han, Min; Wang, Hongxiu

    2014-12-01

    Two single nucleotide polymorphisms in Leukotriene A4 hydrolase (LTA4H) gene were reported to be associated with protection from pulmonary tuberculosis in Vietnamese population. But these associations were not found in the Russians. To investigate the association of LTA4H polymorphisms with tuberculosis in a Han Chinese population in Eastern China, we genotyped 5 SNPs of LTA4H gene in 743 of pulmonary tuberculosis patients, 372 of extra-pulmonary tuberculosis patients and 888 of healthy controls individuals. The CC and TT homozygotes of rs1978331 and rs2540474 were identified to have higher rates (P tuberculosis (OR = 1.412; 95% CI = 1.104-1.804 and(OR = 1.380; 95% CI = 1.080-1.764). However, no significant association was found between any of the SNPs and pulmonary tuberculosis. In the extra-pulmonary tuberculosis subgroups. LTA4H gene were significantly associated with tuberculous meningitis, lymph node tuberculosis, bone tuberculosis and other extra-pulmonary tuberculosis except for pleural tuberculosis. The present findings suggest that polymorphisms in the LTA4H gene may affect susceptibility to extra-pulmonary tuberculosis and change the risk of developing the disease in the Han nationality in the East China.

  20. Association of G+1688A Polymorphism of Platelet Endothelial Cell Adhesion Molecule-1 Gene with Myocardial Infarction in the Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    YANG Ying; CHENG Longxian; Ripen Nsenga; HE Meian; CHANG Zhitang; WU Tangchun

    2007-01-01

    In order to investigate the association of G+1688A (Ser563Asn) polymorphism of platelet endothelial cell adhesion molecule-1 (PECAM-1) gene with myocardial infarction (MI) in the Chi- nese Han population, the G+1688A polymorphism in PECAM-1 gene was detected by polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) method among 502 subjects, including 218 patients with MI and 284 controls. The results showed that there was significant dif-ference in AA frequencies of genotype G+1688A polymorphism between case and control groups (39% vs 24%, P<0.001). A similar trend was observed on the allele frequencies (A/G: 62% vs 49%, P<0.001). Among the subjects with high serum total cholesterol level or high systolic blood pressure level, the variant AA genotype was associated with high risk of MI (adjusted OR, 2.13; 95% CI, 1.08-4.41 and adjusted OR, 2.53; 95%CI, 1.63-3.63). The single nucleotide polymorphism (SNP) at position +1688 in the exon 8 of PECAM-1 gene was associated with MI and the allele A might be a risk factor for MI in the Chinese Han population.

  1. -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.

  2. 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.

  3. Investigation into the association between P2RX7 gene polymorphisms and susceptibility to primary gout and hyperuricemia in a Chinese Han male population.

    Science.gov (United States)

    Ying, Ying; Chen, Yong; Li, Zhen; Huang, Haiyan; Gong, Qiongyao

    2017-02-27

    The purpose of this study was to investigate the relationship between P2RX7 gene single nucleotide polymorphisms and primary gout and hyperuricemia in a Chinese Han male population. The genetic distributions of the single nucleotide polymorphisms (SNPs) rs2230911, rs208294, rs435309, rs28360447, rs1718119, rs28360457, and rs3751143 in P2RX7 were detected in 293 primary gout patients, 187 hyperuricemia patients and 269 controls using SNaPshot technology. Statistical analyses were implemented using SPSS version 20.0. The genetic distributions of each group were tested for Hardy-Weinberg equilibrium (HWE). T test, analysis of variance, rank sum test and Chi-square test were measured to assess differences in clinical data and polymorphisms among groups. Logistic regression was used to assess susceptibility to disease with odds ratios (ORs) and 95% confidence intervals (95% CIs). SHEsis software was used to calculate linkage disequilibrium blocks and haplotype association risk. P  .05). In the comparison between primary gout and control, the frequencies of rs2230911 genotypes were significantly different (P = .002), and allele G was associated with a higher risk of primary gout than allele C [OR (95% CI) = 1.755 (1.278, 2.410), P  .0167). Similarly, there were no obvious differences in the other two polymorphisms among the three groups (P > .05). Our results reveal that P2RX7 rs2230911 may be associated with primary gout risk in a Chinese Han male population and allele G may be a susceptibility factor for primary gout.

  4. 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.

  5. Over Time, Do Anthropometric Measures Still Predict Diabetes Incidence in Chinese Han Nationality Population from Chengdu Community?

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    Kai Liu

    2013-01-01

    Full Text Available Objective. To examine whether anthropometric measures could predict diabetes incidence in a Chinese population during a 15-year follow-up. Design and Methods. The data were collected in 1992 and then again in 2007 from the same group of 687 individuals. Waist circumference, body mass index, waist to hip ratio, and waist to height ratio were collected based on a standard protocol. To assess the effects of baseline anthropometric measures on the new onset of diabetes, Cox's proportional hazards regression models were used to estimate the hazard ratios of them, and the discriminatory power of anthropometric measures for diabetes was assessed by the area under the receiver operating curve (AROC. Results. Seventy-four individuals were diagnosed with diabetes during a 15-year follow-up period (incidence: 10.8%. These anthropometric measures also predicted future diabetes during a long follow-up (. At 7-8 years, the AROC of central obesity measures (WC, WHpR, WHtR were higher than that of general obesity measures (BMI (. But, there were no significant differences among the four anthropometric measurements at 15 years. Conclusions. These anthropometric measures could still predict diabetes with a long time follow-up. However, the validity of anthropometric measures to predict incident diabetes may change with time.

  6. Over time, do anthropometric measures still predict diabetes incidence in chinese han nationality population from chengdu community?

    Science.gov (United States)

    Liu, Kai; He, Sen; Hong, Biying; Yang, Rui; Zhou, Xiaoyan; Feng, Jiayue; Wang, Si; Chen, Xiaoping

    2013-01-01

    Objective. To examine whether anthropometric measures could predict diabetes incidence in a Chinese population during a 15-year follow-up. Design and Methods. The data were collected in 1992 and then again in 2007 from the same group of 687 individuals. Waist circumference, body mass index, waist to hip ratio, and waist to height ratio were collected based on a standard protocol. To assess the effects of baseline anthropometric measures on the new onset of diabetes, Cox's proportional hazards regression models were used to estimate the hazard ratios of them, and the discriminatory power of anthropometric measures for diabetes was assessed by the area under the receiver operating curve (AROC). Results. Seventy-four individuals were diagnosed with diabetes during a 15-year follow-up period (incidence: 10.8%). These anthropometric measures also predicted future diabetes during a long follow-up (P anthropometric measurements at 15 years. Conclusions. These anthropometric measures could still predict diabetes with a long time follow-up. However, the validity of anthropometric measures to predict incident diabetes may change with time.

  7. Association of CASP9, CASP10 gene polymorphisms and tea drinking with colorectal cancer risk in the Han Chinese population

    Institute of Scientific and Technical Information of China (English)

    He LIU; Xia JIANG; Ming-wu ZHANG; Yi-feng PAN; Yun-xian YU; Shan-chun ZHANG; Xin-yuan MA; Qi-long LI; Kun CHEN

    2013-01-01

    The initiators caspase-9 (CASP9) and caspase-10 (CASP10) are two key controllers of apoptosis and play important roles in carcinogenesis.This study aims to explore the association between CASPs gene polymorphisms and colorectal cancer (CRC) susceptibility in a population-based study.A two-stage designed population-based case-control study was carried out,including a testing set with 300 cases and 296 controls and a validation set with 206 cases and 845 controls.A total of eight tag selected single nucleotide polymorphisms (SNPs) in CASP9 and CASP10 were chosen based on HapMap and the National Center of Biotechnology Information (NCBI) datasets and genotyped by restriction fragment length polymorphism (RFLP) assay.Multivariate logistic regression models were applied to evaluate the association of SNPs with CRC risk.In the first stage,from eight tag SNPs,three polymorphisms rs4646077 (odds ratio (OR)AA+AG:0.654,95% confidence interval (CI):0.406-1.055; P=0.082),rs4233532 (ORcc:1.667,95% CI:0.967-2.876; ORCT:1.435,95% CI:0.998-2.063; P=0.077),and rs2881930 (ORcc:0.263,95% CI:0.095-0.728,P=0.036) showed possible association with CRC risk.However,none of the three SNPs,rs4646077 (ORAA+AG:1.233,95% CI:0.903-1.683),rs4233532 (ORcc:0.892,95% CI:0.640-1.243; ORcT:1.134,95% CI:0.897-1.433),and rs2881930 (ORcc:1.096,95% CI:0.620-1.938; ORcT:1.009,95% CI:0.801-1.271),remained significant with CRC risk in the validation set,even after stratification for different tumor locations (colon or rectum).In addition,never tea drinking was associated with a significantly increased risk of CRC in testing set together with validation set (OR:1.755,95% CI:1.319-2.334).Our results found that polymorphisms of CASP9 and CASP10 genes may not contribute to CRC risk in Chinese population and thereby the large-scale case-control studies might be in consideration.In addition,tea drinking was a protective factor for CRC.

  8. Effects of cutoff thresholds for minor allele frequencies on HapMap resolution: A real dataset-based evaluation of the Chinese Han and Tibetan populations

    Institute of Scientific and Technical Information of China (English)

    XIONG ShiYi; HAO YuanTao; RAO ShaoQi; HUANG WeiJun; HU Bin; Labu; Pubuzhuoma; Gesangzhuogab; WANG YiMing

    2009-01-01

    Genomic variation is the genetic basis of phenotypic diversity among individuals, including variation in disease susceptibility and drug response. The greatest promise of the International HapMap is to provide roadmaps for identifying genetic variants predisposing to complex diseases. Single nucleotide polymorphism (SNP) is the fundamental element of the HapMap. Allele frequency of SNPs is one of the major factors affecting the resulting HapMap, being the factor upon which linkage disequilibrium (LD)is calculated, haplotypes are constructed, and tagging SNPs (tagSNPs) are selected. The cutoff thresholds for the frequency of minor alleles used in the making of the map therefore have profound effects on the resolution of that map. To date most researchers have adopted their own cutoff thresholds, and there has been little real dataset-based evaluation of the effects of different cutoff thresholds on HapMap resolution. In an attempt to assess the implications of different cutoff values, we analyzed our own data for the centromeric genes on Chromosome 15 in Chinese Han and Tibetan populations,with respect to minor allele frequency cutoff values of≥0.01 (0.01 group), ≥0.05 (0.05 group), and ≥0.10(0.10 group), and constructed HapMaps from each of the datasets. The resolution, study power and cost-effectiveness for each of the maps were compared. Our results show that the 0.01 threshold provides the greatest power (P=0.019 in Han and P=0.029 in Tibetan for 0.01 vs. 0.05 threshold) and detects most population-specific haploypes (P= 0.012 for 0.01 vs. 0.05 threshold). However, in the regions studied, the 0.05 cutoff threshold did not significantly increase power above the 0.10 threshold (P=0.191 in Han; 1.000 in Tibetans), and did not improve resolution over the 0.10 value for population-specific haplotypes (P=0.592) neither. Furthermore the 0.05 and 0.10 values produced the same figures for tagging efficiency, LD block number, LD length, study power and cost

  9. Association of a rare haplotype in Kinesin light chain 1 gene with age-related cataract in a han chinese population.

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    Lu Zhang

    Full Text Available PURPOSE: The causal genes for congenital cataract are good candidates for the genetic susceptibility for age-related cataract (ARC. The aim of this study was to investigate association between the polymorphisms in the causal genes for congenital cataract and ARC in a Chinese population. Meanwhile, we performed the replication study for previous identified risk genes for ARC. METHODS: We recruited 212 sporadic Han Chinese patients with age-related cataracts (ARC and 172 normal controls in this study. We analyzed 31 SNPs from 13 genes which mostly possible contributes the progress of ARC in a Chinese population, comprising 212 cataract patients and 172 controls. Polymorphism-spanning fragments were amplified by using the multiplex polymerase chain reaction (PCR and genotyped using primer extension method in MassARRAY platform. Allelic and haplotypic difference in the frequencies were estimated using the SHEsis software platform. P-value was adjusted by the Bonferroni correction. RESULTS: There was no difference in the frequencies of the genotype and allele of the all SNPs between the patients with ARC and the controls. In the haplotypic analysis, the haplotypes consisting of rs7154572, rs7150141 and rs12432994 in Kinesin Light Chain 1 Gene (KLC1 showed significant association with ARC (p = 0.000878. A rare haplotype CGT was more frequent in patients (p = 0.000106, and p = 0.00795 after corrected for 75 tests. CONCLUSIONS: Our study provides evidence that the combined effect of three variants within the KLC1 gene may predispose to ARC, but the precise mechanism needs further investigating.

  10. Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with multiple sclerosis in the Han Chinese population.

    Science.gov (United States)

    Zhao, Gui-Xian; Liu, Ying; Li, Zhen-Xin; Lv, Chuan-Zhen; Traboulsee, Anthony; Sadovnick, A Dessa; Wu, Zhi-Ying

    2013-10-01

    Multiple sclerosis (MS) and neuromyelitis optica (NMO) are common autoimmune demyelinating disorders of the central nervous system. The exact etiology of each remains unclear. CYP7A1 was reported to be associated with NMO in Korean patients, but this is yet to be confirmed in other populations. In this study, we used Sanger sequencing to detect SNPs in the promoter region of CYP7A1 in a population consisting of unrelated patients and controls from the Han Chinese population (129 MS; 89 NMO; 325 controls). Two known SNPs, -204A>C (rs3808607) and -469T>C (rs3824260), and a novel SNP (-208G>C) were identified in the 5'-UTR of CYP7A1. The -204A>C was in complete linkage with -469T>C and both were associated with NMO but not with MS. Results suggest that the CYP7A1 allele was associated with NMO. NMO and MS have different genetic risk factors. This further supports the emerging evidence that MS and NMO are distinct disorders.

  11. Association Study of a Proliferation-inducing Ligand, Spermatogenesis Associated 8, Platelet-derived Growth Factor Receptor-alpha, and POLB Polymorphisms with Systemic Lupus Erythematosus in Chinese Han Population

    OpenAIRE

    Ping Li; Yuan Li; Ai-Hong Zhou; Si Chen; Jing Li; Xiao-Ting Wen; Zi-Yan Wu; Liu-Bing Li; Feng-Chun Zhang; Yong-Zhe Li

    2016-01-01

    Background: Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. This study was conducted to examine whether the association of a proliferation-inducing ligand (APRIL), spermatogenesis associated 8 (SPATA8), platelet-derived growth factor receptor-alpha (PDGFRA), and DNA polymerase beta (POLB) with SLE can be replicated in a Chinese Han population. Methods: Chinese SLE patients (n = 1247) and ethnically and geographically matched healthy cont...

  12. 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.

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

    Institute of Scientific and Technical Information of China (English)

    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.

  14. 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.

  15. Association of an Exon SNP of SLC2A9 Gene with Hyperuricemia Complicated with Type 2 Diabetes Mellitus in the Chinese Male Han Population.

    Science.gov (United States)

    Xing, Shi-Chao; Wang, Xu-Fu; Miao, Zhi-Min; Zhang, Xue-Zhi; Zheng, Jun; Yuan, Ying

    2015-04-01

    Several recent genome-wide association studies and following studies have identified that genetic variants of SLC2A9 are associated with hyperuricemia (HUA) and diabetes mellitus (DM). Here, we set to investigate whether the exon 9 of SLC2A9 gene variations is associated with HUA complicated with Type 2 DM (T2DM) in the Chinese male Han population. The present study was designed to study rs2280205 polymorphism in exon 9 of SLC2A9 in 232 Chinese male subjects. Rs2280205 locus was genotyped in 52 T2DM subjects, 65 HUA subjects, 55 subjects with HUA complicated with T2DM, as well as 60 control subjects in this study. DNA from peripheral blood was purified and amplified by polymerase chain reaction (PCR). The PCR products were then digested by restriction enzyme MSPI, and part of PCR products was sequenced and analyzed. There was no significant difference in the levels of cholesterol, creatinine, and urea nitrogen between the Control Group and the HUA group. There was also no significant difference in levels of cholesterol between the DM group and Control Group. No significant difference in cholesterol and uric acid was observed between the HUA group and the HUA accompanied with DM group (P > 0.05). However, there was no statistical significance in the genotype frequency in these groups (P > 0.01). Results of the present study suggest that the exon 9 of SLC2A9 gene 109C/T polymorphism is not associated with HUA and diabetes in population living in the coastal area of Shandong province, China.

  16. 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

  17. 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.

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

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    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

  19. Variant rs2237892 of KCNQ1 Is Potentially Associated with Hypertension and Macrovascular Complications in Type 2 Diabetes Mellitus in A Chinese Han Population

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    Wanlin Zhang

    2015-12-01

    Full Text Available KCNQ1 has been identified as a susceptibility gene of type 2 diabetes mellitus (T2DM in Asian populations through genome-wide association studies. However, studies on the association between gene polymorphism of KCNQ1 and T2DM complications remain unclear. To further analyze the association between different alleles at the single nucleotide polymorphism (SNP rs2237892 within KCNQ1 and TD2M and its complications, we conducted a case-control study in a Chinese Han population. The C allele of rs2237892 variant contributed to susceptibility to T2DM (odds ratio [OR], 1.45; 95% confidence interval [CI], 1.20–1.75. Genotypes CT (OR, 1.97; 95% CI, 1.24–3.15 and CC (OR, 2.49; 95% CI, 1.57–3.95 were associated with an increased risk of T2DM. Multivariate regression analysis was performed with adjustment of age, gender, and body mass index. We found that systolic blood pressure (P = 0.015, prevalence of hypertension (P = 0.037, and risk of macrovascular disease (OR, 2.10; CI, 1.00–4.45 were significantly higher in subjects with the CC genotype than in the combined population with genotype either CT or TT. Therefore, our data support that KCNQ1 is associated with an increased risk for T2DM and might contribute to the higher incidence of hypertension and macrovascular complications in patients with T2DM carrying the risk allele C though it needs further to be confirmed in a larger population.

  20. Variant rs2237892 of KCNQ1 Is Potentially Associated with Hypertension and Macrovascular Complications in Type 2 Diabetes Mellitus in A Chinese Han Population.

    Science.gov (United States)

    Zhang, Wanlin; Wang, Hailing; Guan, Xiaomin; Niu, Qing; Li, Wei

    2015-12-01

    KCNQ1 has been identified as a susceptibility gene of type 2 diabetes mellitus (T2DM) in Asian populations through genome-wide association studies. However, studies on the association between gene polymorphism of KCNQ1 and T2DM complications remain unclear. To further analyze the association between different alleles at the single nucleotide polymorphism (SNP) rs2237892 within KCNQ1 and TD2M and its complications, we conducted a case-control study in a Chinese Han population. The C allele of rs2237892 variant contributed to susceptibility to T2DM (odds ratio [OR], 1.45; 95% confidence interval [CI], 1.20-1.75). Genotypes CT (OR, 1.97; 95% CI, 1.24-3.15) and CC (OR, 2.49; 95% CI, 1.57-3.95) were associated with an increased risk of T2DM. Multivariate regression analysis was performed with adjustment of age, gender, and body mass index. We found that systolic blood pressure (P=0.015), prevalence of hypertension (P=0.037), and risk of macrovascular disease (OR, 2.10; CI, 1.00-4.45) were significantly higher in subjects with the CC genotype than in the combined population with genotype either CT or TT. Therefore, our data support that KCNQ1 is associated with an increased risk for T2DM and might contribute to the higher incidence of hypertension and macrovascular complications in patients with T2DM carrying the risk allele C though it needs further to be confirmed in a larger population.

  1. 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.

  2. Association of glutathione S-transferase T1 and M1 gene polymorphisms with ischemic stroke risk in the Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Rui Wang; Yan Wang; Junhong Wang; Kun Yang

    2012-01-01

    Atherosclerosis plays an important role in ischemic stroke, and oxidative stress participates in the entire process of atherosclerosis. Glutathione S-transferase (GST) acting with other antioxidant enzymes can eliminate reactive oxygen species and protect cells against oxidative damage. To assess the association of glutathione S-transferase (GSTT1 and GSTM1) gene polymorphisms with ischemic stroke in the Chinese Han population, the present study selected 315 patients with ischemic stroke and 210 healthy controls for comparison. GSTT1 and GSTM1 genotypes were determined using polymerase chain reactions, electrophoresis and imaging analysis. No obvious evidence of GSTT1-null, GSTM1-null and GSTT1/GSTM1-double null genotype distribution differences was found between case and control groups or between genders. Subgroup analysis showed that the risk of stroke was increased when hypertension was accompanied by GSTT1-null (odds ratio (OR) = 2.996, P < 0.001) and GSTM1-null (OR = 3.680, P < 0.001) genotypes; diabetes mellitus was accompanied by GSTT1-null (OR = 1.860, P = 0.031) and GSTM1-null (OR = 2.444, P = 0.002) genotypes, and smokers showed a GSTT1-null genotype (OR = 2.276, P = 0.003). GSTT1- and GSTM1-null genotypes may interact synergistically with hypertension, diabetes mellitus and smoking to increase the incidence risk of ischemic stroke.

  3. Association between single nucleotide polymorphisms in ADRB2, GNB3 and GSTP1 genes and high-altitude pulmonary edema (HAPE) in the Chinese Han population.

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    He, Yongjun; Liu, Lijun; Xu, Pengcheng; He, Na; Yuan, Dongya; Kang, Longli; Jin, Tianbo

    2017-02-14

    High altitude pulmonary edema (HAPE) occurs mainly under conditions such as high altitude, rapid ascent, or hypoxia. Previous studies suggest that ADRB2, GNB3, TH, and GSTP1 polymorphisms are associated with various lung diseases. We evaluated whether those polymorphisms are associated with the risk of HAPE in a Chinese Han population. ADRB2, GNB3, TH and GSTP1 polymorphisms were genotyped using a Sequenom MassARRAY. Logistic regression, adjusted for age and gender, was used to evaluate the association between the genotypes and the risk of HAPE by computing odds ratios (ORs) and 95% confidence intervals (95% CIs). The results revealed that GNB3 rs4963516 allele ''G'' (G vs T: OR = 0.70, 95% CI = 0.55-0.90, p = 0.006) was associated with HAPE risk. The ADRB2 rs1042718 alleles had a 1.29-fold (95%CI = 1.00-1.66; p = 0.045) increased risk of HAPE, and the GSTP1 rs749174 alleles had a 0.71-fold (95%CI = 0.52-0.99; p = 0.042) decreased risk of HAPE. Co-dominant and dominant models of GNB3 rs4963516 decreased the risk of HAPE (p = 0.023 and p = 0.008, respectively). Our results indicate GNB3 and GSTP1 polymorphisms may protect against HAPE progression, while ADRB2 polymorphisms are associated with an increased risk of HAPE.

  4. Diffusion magnetic resonance imaging study of schizophrenia in the context of abnormal neurodevelopment using multiple site data in a Chinese Han population

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    Li, Y; Xie, S; Liu, B; Song, M; Chen, Y; Li, P; Lu, L; Lv, L; Wang, H; Yan, H; Yan, J; Zhang, H; Zhang, D; Jiang, T

    2016-01-01

    Schizophrenia has increasingly been considered a neurodevelopmental disorder, and the advancement of neuroimaging techniques and associated computational methods has enabled quantitative re-examination of this important theory on the pathogenesis of the disease. Inspired by previous findings from neonatal brains, we proposed that an increase in diffusion magnetic resonance imaging (dMRI) mean diffusivity (MD) should be observed in the cerebral cortex of schizophrenia patients compared with healthy controls, corresponding to lower tissue complexity and potentially a failure to reach cortical maturation. We tested this hypothesis using dMRI data from a Chinese Han population comprising patients from four different hospital sites. Utilizing data-driven methods based on the state-of-the-art tensor-based registration algorithm, significantly increased MD measurements were consistently observed in the cortex of schizophrenia patients across all four sites, despite differences in psychopathology, exposure to antipsychotic medication and scanners used for image acquisition. Specifically, we found increased MD in the limbic system of the schizophrenic brain, mainly involving the bilateral insular and prefrontal cortices. In light of the existing literature, we speculate that this may represent a neuroanatomical signature of the disorder, reflecting microstructural deficits due to developmental abnormalities. Our findings not only provide strong support to the abnormal neurodevelopment theory of schizophrenia, but also highlight an important neuroimaging endophenotype for monitoring the developmental trajectory of high-risk subjects of the disease, thereby facilitating early detection and prevention. PMID:26784969

  5. Associations of Toll-like receptor 7 and 8 Polymorphisms with Asthma and Asthma-related Phenotypes in a Chinese Han Population.

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    Zhang, Qian; Qian, Fen-Hong; Yin, Xiao-Wei; Cao, Qi; Bai, Jian-Ling; Du, Qiang; Shi, Yi

    2015-12-01

    Toll-like receptor (TLR) 7 and 8 mediate anti-virus immunity and are of particular relevance to asthma. However, very little information about genetic association on TLR7/8 and asthma are available. This study aimed to evaluate the effects of polymorphisms in TLR7 and 8 on asthma risk and asthma-related phenotypes in a Chinese Han population. We enrolled 462 unrelated adult asthmatic patients and 398 healthy volunteers. The genotypes of tagging single nucleotide polymorphisms (SNPs) in TLR7 and 8 genes were determined using multiplex SNaPshot SNP genotyping assay. We used case-control and case-only studies to assess any links with asthma and asthma-related phenotypes. There was no association between the variants in TLR7 and 8 and asthma susceptibility. However, our results revealed that the genetic variants in TLR7 and 8 were associated with asthma-related phenotypes, including eosinophil counts, serum immunoglobulin E levels, lung function, and asthma severity as well. Our study suggests that TLR7 and 8 polymorphisms may play a considerable role in the pathogenesis of asthma. It will help in better understanding the pathogenesis of asthma and development of more effective strategies for asthma prevention, prediction, and therapy.

  6. The SLC6A3 gene possibly affects susceptibility to late-onset alcohol dependence but not specific personality traits in a Han Chinese population

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    Huang, Chang-Chih; Kuo, Shin-Chang; Yeh, Yi-Wei; Chen, Chun-Yen; Yen, Che-Hung; Liang, Chih-Sung; Ho, Pei-Shen; Lu, Ru-Band; Huang, San-Yuan

    2017-01-01

    Dopaminergic dysfunction has an important role in the pathoetiology of alcohol dependence (AD). The purpose of this study was to determine whether the solute carrier family 6 member 3 (SLC6A3) gene (also known as the dopamine transporter DAT gene) was associated with AD, and whether variants in the SLC6A3 locus were associated with specific personality traits in patients with AD. Sixteen polymorphisms in SLC6A3 were analyzed using 637 patients with AD and 523 healthy controls. To reduce clinical heterogeneity, patients were classified into two subgroups: early-onset AD (EOAD) and late-onset AD (LOAD). The Tridimensional Personality Questionnaire was used to assess the personality traits novelty seeking (NS) and harm avoidance (HA) in the patients with AD. Using allele frequency and genotype distribution comparisons and logistic regression analysis, we found evidence of association between rs6350 and AD (P gene may have a role in susceptibility to late-onset AD in the Han Chinese population. PMID:28182634

  7. ORMDL3 contributes to the risk of atherosclerosis in Chinese Han population and mediates oxidized low-density lipoprotein-induced autophagy in endothelial cells.

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    Ma, Xiaochun; Qiu, Rongfang; Dang, Jie; Li, Jiangxia; Hu, Qin; Shan, Shan; Xin, Qian; Pan, Wenying; Bian, Xianli; Yuan, Qianqian; Long, Feng; Liu, Na; Li, Yan; Gao, Fei; Zou, Chengwei; Gong, Yaoqin; Liu, Qiji

    2015-11-25

    ORMDL sphingolipid biosynthesis regulator 3 (ORMDL3) is a universally confirmed susceptibility gene for asthma and has recently emerged as a crucial modulator in lipid metabolism, inflammation and endoplasmic reticulum (ER) stress-the mechanisms also closely involved in atherosclerosis (AS). Here we first presented the evidence of two single nucleotide polymorphisms regulating ORMDL3 expression (rs7216389 and rs9303277) significantly associated with AS risk and the evidence of increased ORMDL3 expression in AS cases compared to controls, in Chinese Han population. Following the detection of its statistical correlation with AS, we further explored the functional relevance of ORMDL3 and hypothesized a potential role mediating autophagy as autophagy is activated upon modified lipid, inflammation and ER stress. Our results demonstrated that in endothelial cells oxidized low-density lipoprotein (ox-LDL) up-regulated ORMDL3 expression and knockdown of ORMDL3 alleviated not only ox-LDL-induced but also basal autophagy. BECN1 is essential for autophagy initiation and silencing of ORMDL3 suppressed ox-LDL-induced as well as basal BECN1 expression. In addition, deletion of ORMDL3 resulted in greater sensitivity to ox-LDL-induced cell death. Taken together, ORMDL3 might represent a causal gene mediating autophagy in endothelial cells in the pathogenesis of AS.

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

    Science.gov (United States)

    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.

  9. Association between pri-miR-218 polymorphism and risk of hepatocellular carcinoma in a Han Chinese population.

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    Zhang, Lu-Shun; Liang, Wei-Bo; Gao, Lin-Bo; Li, Hong-Yu; Li, Li-Juan; Chen, Peng-Yu; Liu, Yun; Chen, Tian-Yi; Han, Jun-Ge; Wei, Yong-Gang; Zhang, Lin

    2012-05-01

    MicroRNAs are noncoding RNA molecules of 18-25 nucleotides that regulate gene expression at the post-transcriptional level. The aim of this study was to investigate whether pri-miR-218 rs11134527 A/G polymorphism influences the risk of hepatocellular carcinoma (HCC) or not. pri-miR-218 rs11134527 A/G was genotyped in 302 HCC patients and 513 control subjects using the polymerase chain reaction-restriction fragment length polymorphism assay. The AG genotype of pri-miR-218 rs11134527 A/G was associated with family history (p=0.018, odds ratio [OR]=2.96, 95% confidence interval [CI]: 1.16-7.56) and elevated serum α-fetoprotein (serum alpha-fetoprotein [AFP]) levels (≥20 ng/mL; p=0.009, OR=1.92, 95% CI: 1.17-3.14) in HCC patients. These findings suggested that the AG genotype of pri-miR-218 rs11134527 might relate to genetic predisposition and be involved in regulating the expression of AFP in Chinese HCC patients.

  10. Association Between Single Nucleotide Polymorphisms in DNA Polymerase Kappa Gene and Breast Cancer Risk in Chinese Han Population

    Science.gov (United States)

    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

    Abstract 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

  11. Genetic polymorphisms of loci D18S53, D18S59, and D18S488 in fetuses from a Chinese Tianjin Han population.

    Science.gov (United States)

    Li, X Z; Liu, J; Shi, Y F; Ju, D; Zhang, Y; Yue, T F

    2016-06-16

    We investigated the genetic polymorphisms of three short tandem repeat (STR) loci, D18S53, D18S59, and D18S488, on chromosome 18 in fetuses from a Chinese Tianjin Han population. Sixty-four villus samples and 374 amniotic fluid samples were collected from fetuses. Quantitative fluorescence polymerase chain reaction was performed to amplify the STR loci, followed by scanned electrophoresis and quantitative analysis of the fluorescence signals. Hardy-Weinberg equilibrium (HWE) analysis was performed based on the genotype distributions of the STR loci to obtain the following population genetic data: genotype frequency, heterozygosity of observation (HO), polymorphism information content (PIC), probability of discrimination power (PD), and probability of exclusion (PE). We detected 15, 13, and 15 alleles of D18S53, D18S59, and D18S488, respectively. The genotype frequencies were found to be in line with HWE. The HO values of the three loci, D18S53, D18S59, and D18S488, were 0.797, 0.847, and 0.792; the PIC values were 0.81, 0.75, and 0.73; the PD values were 0.944, 0.901, and 0.881; and the PE values were 0.593, 0.689, and 0.585, respectively. D18S53, D18S59, and D18S488 loci are good genetic markers of chromosome 18, and show potential for use in the prenatal genetic diagnosis of Edwards' syndrome.

  12. STR polymorphisms of the Henan population and investigation of the Central Plains Han origin of Chaoshanese.

    Science.gov (United States)

    Xu, Li-Na; Hu, Sheng-Ping; Feng, Guo-Ying

    2009-08-01

    Allele frequencies for 15 short tandem repeat (STR) loci were obtained from a Chinese Han population in Henan province of middle China. No deviation from Hardy-Weinberg equilibrium was observed for the STR loci except for D3S1358. The 15 STR loci are potentially useful for paternity testing and forensic casework in the Henan population. A phylogenetic tree based on CODIS STR allele frequencies of 25 Han populations revealed noticeable but far less clear distinctions between southern and northern Chinese populations; the Henan Han population was located at an intermediate position between south and north Chinese Han populations, relatively closer to Chaoshan and Minnan Han. Moreover, admixture analysis showed a large proportion of Central Plains Han origin in Chaoshanese and Minnanese. Admixture and phylogenetic analysis also reflected the genetic similarity shared by these two groups.

  13. Relationship between genetic polymorphisms in the HTR1A gene and paranoid schizophrenia in a northern Han Chinese population.

    Science.gov (United States)

    Zhou, Xue; Ding, Mei; Ding, Chunli; Yao, Jun; Pang, Hao; Xing, Jiaxin; Xuan, Jinfeng; Wang, Baojie

    2013-03-01

    The hypothesis for the etiology of schizophrenia involves various neurotransmitters, including 5-HT. Metabolic disorder of 5-HT is an important underlying neurobiochemical cause leading to the development of mental illness. Abnormality in the receptors involved in 5-HT synthesis and metabolism may affect the functioning of 5-HT in the central nervous system. There are seven types of 5-HT receptor families, with a total of 15 corresponding subtypes. HTR1A is the most abundantly expressed 5-HT receptor subtype in the mammalian brain. SNPs in HTR1A enhance or weaken the functioning of 5-HT by affecting HTR1A expression levels or ligand-binding activity, thereby placing HTR1A in an important role in the study of diseases of the nervous system. This study employed DNA sequencing to investigate HTR1A fragment lengths, including complete exons as well as 5' FR and 3' FR segments, for a total of 2,718 bp. Seven SNP loci (ss212928868, rs6295, rs6294, ss218178047, rs34118353, rs6449693, and rs878567) were found in 182 healthy volunteers and 161 patients. Among them, two SNP loci had not been reported in the National Center for Biotechnology Information (NCBI) database, promoter locus ss212928868 and exon locus ss218178047, which now have been approved by the NCBI database and assigned rs numbers, rs113195492 and rs112846276, respectively. ss212928868 and rs6294 were statistically different between control and paranoid schizophrenic women (P paranoid schizophrenic and control group women. Although such differences were lost after statistical correction, studies with larger sample sizes have not been conducted. Combined with the newly discovered loci, these findings can point out possible directions for future investigations in different populations.

  14. Tag SNP polymorphism of CCL2 and its role in clinical tuberculosis in Han Chinese pediatric population.

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    Wei-Xing Feng

    Full Text Available BACKGROUND: Chemokine (C-C motif ligand 2 CCL2/MCP-1 is among the key signaling molecules of innate immunity; in particular, it is involved in recruitment of mononuclear and other cells in response to infection, including tuberculosis (TB and is essential for granuloma formation. METHODOLOGY/PRINCIPAL FINDINGS: We identified a tag SNP for the CCL2/MCP-1 gene (rs4586 C/T. In order to understand whether this SNP may serve to evaluate the contribution of the CCL2 gene to the expression of TB disease, we further analysed distribution of its alleles and genotypes in 301 TB cases versus 338 non-infected controls (all BCG vaccinated representing a high-risk pediatric population of North China. In the male TB subgroup, the C allele was identified in a higher rate (P = 0.045, and, acting dominantly, was found to be a risk factor for clinical TB (P = 0.029. Homozygous TT genotype was significantly associated with lower CSF mononuclear leukocyte (ML counts in patients with tuberculous meningitis (TBM (P = 0.001. CONCLUSIONS/SIGNIFICANCE: The present study found an association of the CCL2 tag SNP rs4586 C allele and pediatric TB disease in males, suggesting that gender may affect the susceptibility to TB even in children. The association of homozygous TT genotype with decreased CSF mononuclear leukocyte (ML count not only suggests a clinical significance of this SNP, but indicates its potential to assist in the clinical assessment of suspected TBM, where delay is critical and diagnosis is difficult.

  15. 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.

  16. A functional variant in the cystathionine β-synthase gene promoter significantly reduces congenital heart disease susceptibility in a Han Chinese population

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    Jian-Yuan Zhao; Xue-Yan Yang; Kai-Hu Shi; Shu-Na Sun; Jia Hou; Zhi-Zhou Ye; Jue Wang

    2013-01-01

    Homocysteine is an independent risk factor for various cardiovascular diseases.There are two ways to remove homocysteine from embryonic cardiac cells:remethylation to form methionine or transsulfuration to form cysteine.Cystathionine β-synthase (CBS) catalyzes the first step of homocysteine transsulfuration as a rate-limiting enzyme.In this study,we identified a functional variant-4673C>G (rs2850144) in the CBS gene promoter region that significantly reduces the susceptibility to congenital heart disease (CHD) in a Han Chinese population consisting of 2 340 CHD patients and 2 270 controls.Individuals carrying the heterozygous CG and homozygous GG genotypes had a 15% (odds ratio (OR) =0.85,95% confidence interval (CI) =0.75-0.96,P =0.011) and 40% (OR =0.60,95% CI =0.49-0.73,P =1.78 × 10-7) reduced risk to develop CHD than the wild-type CC genotype carriers in the combined samples,respectively.Additional stratified analyses demonstrated that CBS-4673C>G is significantly related to septation defects and conotruncal defects.In vivo detection of CBS mRNA levels in human cardiac tissues and in vitro luciferase assays consistently showed that the minor G allele significantly increased CBS transcription.A functional analysis revealed that both the attenuated transcription suppressor SP1 binding affinity and the CBS promoter hypomethylation specifically linked with the minor G allele contributed to the remarkably upregulated CBS expression.Consequently,the carriers with genetically increased CBS expression would benefit from the protection due to the low homocysteine levels maintained by CBS in certain cells during the critical heart development stages.These results shed light on unexpected role of CBS and highlight the importance of homocysteine removal in cardiac development.

  17. Association study between genome-wide significant variants of vitamin B12 metabolism and gastric cancer in a han Chinese population.

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    Zhao, Lei; Wei, Yucai; Song, Ailing; Li, Yumin

    2016-04-01

    Gastric cancer is one of the leading causes of cancer mortality worldwide. Accumulating evidence suggests that vitamin B12 plays an important role in the development of gastric cancer. Genome-wide association studies on metabolites in the one-carbon metabolism pathway identified several vitamin B12-related polymorphisms. Therefore, we investigated the association between variants within vitamin B12-related genes and gastric cancer in a Han Chinese population. Eight variants within the genome were significant vitamin B12-related genes, and they were selected for analysis in this case-control study. This study used a total of 492 gastric cancer patients and 550 noncancer controls. The variant rs526934 from the TCN1 gene was associated with an increased risk of developing gastric cancer. Increased risks of gastric cancer occurrence were observed in the minor G allele (OR = 1.25, 95% CI = 1.03-1.52, P = 0.031) and GG genotype (OR = 2.06, 95% CI = 1.24-3.42, P = 0.0043) compared with the wild-type A allele and AA-GA genotype, respectively. In the haplotypic analysis, we found that the CUBN haplotypes were associated with an altered gastric cancer risk. The rs1801222T/rs11254363A (OR = 1.40, 95% CI = 1.05-1.86, P = 0.021) and rs1801222C/rs11254363G (OR = 4.39, 95% CI = 2.32-8.30, P B12 concentration-related variants were associated with the occurrence of gastric cancer. This finding shed light on the unexpected role of vitamin B12 metabolism genes in gastric carcinogenesis and highlighted the interplay of diet, genetics, and human cancers.

  18. A genetic variant in vitamin B12 metabolic genes that reduces the risk of congenital heart disease in Han Chinese populations.

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    Jue Wang

    Full Text Available BACKGROUND: Genome-wide association studies on components of the one-carbon metabolic pathway revealed that human vitamin B12 levels could be significantly influenced by variations in the fucosyltransferase 2 (FUT2, cubilin (CUBN, and transcobalamin-I (TCN1 genes. An altered vitamin B12 level is an important factor that disturbs the homeostasis of the folate metabolism pathway, which in turn can potentially lead to the development of congenital heart disease (CHD. Therefore, we investigated the association between the variants of vitamin B12-related genes and CHD in Han Chinese populations. METHODS AND RESULTS: Six variants of the vitamin B12-related genes were selected for analysis in two independent case-control studies, with a total of 868 CHD patients and 931 controls. The variant rs11254363 of the CUBN gene was associated with a decreased risk of developing CHD in both the separate and combined case-control studies. Combined samples from the two cohorts had a significant decrease in CHD risk for the G allele (OR = 0.48, P = 1.7×10⁻⁵ and AG+GG genotypes (OR = 0.49, P = 4×10⁻⁵, compared with the wild-type A allele and AA genotype, respectively. CONCLUSIONS: Considering the G allele of variant rs11254363 of the CUBN gene was associated with an increased level of circulating vitamin B12. This result suggested that the carriers of the G allele would benefit from the protection offered by the high vitamin B12 concentration during critical heart development stages. This finding shed light on the unexpected role of CUBN in CHD development and highlighted the interplay of diet, genetics, and human birth defects.

  19. The Pro12Ala Polymorphism of PPAR-γ Gene Is Associated with Sepsis Disease Severity and Outcome in Chinese Han Population

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    Guoda Ma

    2014-01-01

    Full Text Available Peroxisome proliferator-activated receptor-γ (PPAR-γ is a ligand-binding nuclear receptor, and its activation plays a prominent role in regulating the inflammatory response. Therefore, PPAR-γ has been suggested as a candidate gene for sepsis. In the present study, we investigated the association between the Pro12Ala polymorphism of PPAR-γ and sepsis in a Han Chinese population. A total of 308 patients with sepsis and 345 healthy controls were enrolled in this study. Genotyping was performed using the polymerase chain reaction-ligation detection reaction (PCR-LDR method. No significant differences were detected in the allele and genotype distributions of the PPAR-γ Pro12Ala SNP between septic patients and controls (P=0.622 for genotype; P=0.629 for allele. However, stratification by subtypes (sepsis, septic shock, and severe sepsis revealed a statistically significant difference in the frequency of the Ala allele and Ala-carrier genotype between the patients with the sepsis subtype and the healthy controls (P=0.014 for allele and P=0.012, for genotype. Moreover, significant differences were found in the frequency of the Ala allele and genotype between the sepsis survivors and nonsurvivors (all P=0.002. In the survivors, the PPAR-γ Pro12Ala genotype was significantly associated with decreased disease severity and recovery time (all P<0.001. Thus, genetic polymorphism is thought to play a role in the development and outcome of sepsis.

  20. 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.

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

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    Xiao-Li Cao

    2016-04-01

    Full Text Available 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 unrelated patients (CHD, 565 and IS, 569 and 541 controls. The frequencies of the rs4977574 genotypes and alleles between CHD and control groups, and the rs2740483 genotypes and alleles between IS and control groups were different (p = 0.006–0.001. The subjects with rs1333042GG genotype and the carriers of the rs4977574G allele were associated with increased risk of CHD. The carriers of the rs4977574G allele were associated with increased risk of IS. However, the carriers of the rs2740483C allele had lower risk of IS than the non-carriers of the rs2740483C allele after controlling for potential confounders. The rs4977574GG-age (>60 year interaction increased the risk of CHD (p = 0.022, whereas the rs2740483CG/CC-body mass index (>24 kg/m2 interaction decreased the risk of IS (p = 0.035. The interactions of rs1333040-rs1333042 on the risk of CHD and IS were relatively strong, whereas the interactions of rs1333040-rs1333042-rs2066715 and rs1333040-rs1333042-rs2066715-rs2740483 on the risk of CHD, and rs1333040-rs1333042-rs4977574 and rs1333040-rs1333042-rs4977574-rs2740483 on the risk of IS were relatively weak. These findings suggest that some common variants on the chromosome 9p21 and ABCA1 and their interactions may significantly modify the risk of CHD and IS independent of effects on serum lipid levels.

  2. Associations between apolipoprotein E genotypes and serum levels of glucose, cholesterol, and triglycerides in a cognitively normal aging Han Chinese population

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    Tao QQ

    2014-07-01

    Full Text Available Qing-Qing Tao,1,* Yan Chen,2,3,* Zhi-Jun Liu,1 Yi-Min Sun,1 Ping Yang,1 Shen-Ji Lu,1 Miao Xu,1 Qin-Yun Dong,1 Jia-Jun Yang,2 Zhi-Ying Wu11Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, 2Department of Neurology, Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University, 3Department of Medicine, Shanghai Fengxian District Central Hospital, Shanghai, People’s Republic of China*These authors contributed equally to this workPurpose: To determine the associations between apolipoprotein E (APOE genotypes and serum levels of glucose, total cholesterol, and triglycerides in a cognitively normal aging Han Chinese population.Methods: There were 1,003 cognitively normal aging subjects included in this study. APOE genotypes were analyzed and biochemical parameters were tested. All the subjects were divided into three groups according to APOE genotypes: (1 E2/2 or E2/3 (APOE E2; (2 E3/3 (APOE E3; and (3 E2/4, E3/4, or E4/4 (APOE E4. Correlations of serum levels of glucose, total cholesterol, and triglycerides with APOE genotypes were assessed.Results: E2, E3, and E4 allele frequencies were found to be 6.2%, 82.1%, and 11.7%, respectively. Serum levels of total cholesterol were higher in the APOE E4 group (P<0.05. A higher level of total cholesterol was associated with the E4 allele (adjusted odds ratio 1.689, 95% confidence interval 1.223–2.334, P<0.01. However, no association was found between APOE status and serum levels of glucose (adjusted odds ratio 0.981, 95% confidence interval 0.720–1.336, P=0.903 or total triglycerides (adjusted odds ratio 1.042, 95% confidence interval 0.759–1.429, P=0.800.Conclusion: A higher serum level of total cholesterol was significantly correlated with APOE E4 status in a cognitively normal, nondiabetic aging population. However, there was no correlation between APOE genotypes and serum levels of glucose or total triglycerides

  3. 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.

  4. RHD gene polymorphism among RhD-negative Han Chinese

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    徐群; 张建业; 王勤友; 张世训; 司桂玲

    2003-01-01

    Objective To evaluate the status of eight RHD specific exons in 131 Han Chinese blood donors who were classified as RhD-negative by serological methods and explore the genomic structure of RHD gene among the Han Chinese. The Rh blood group system has the highest prevalence of polymorphisms among human blood group systems and is clinically significant in transfusion medicine. The Rh antigens are expressed on polypeptides encoded by two highly homologous genes, RHD and RHCE. Recent molecular studies have shown that the RhD-negative trait could be generated by multiple genetic mechanisms and is ethnic group-dependent.Methods The polymerase chain reaction using-sequence specific primers (PCR-SSP) was used to amplify exons 2, 3, 4, 5, 6, 7, 9 and 10 of RHD gene and exons 1, 2 and 5 of RHCE gene, as well as intron 4 in each of them.Results The 131 cases of RhD-negative phenotypes consisted of 60 ccee, 58 Ccee, 5 ccEe, 5 CcEe and 3 CCee. Among them, 83 with the Rh ccee or ccEe phenotypes (63.4%) lacked the eight RHD exons indicated above, while 26 cases with the Rh Ccee, CCee, CcEe phenotypes (19.9%) had all the RHD exons examined. Twenty-two individuals with the Ccee, CCee, CcEe phenotypes (16.8%) carried at least one RHD exon. The phenotypes of the RhD negative individuals carrying the RHD gene were Rh CC or Cc, but not cc. Conclusions Three classes of RhD-negative polymorphisms among a population of Han Chinese were observed. Antigen association analysis suggested the existence of a novel class of RhD-negative associated haplotype in Han Chinese. This haplotype consisted of a normal RHCE allele and a nonfunctional RHD gene. It may be beneficial to redefine the RhD-negative blood group among Chinese populations upon clarification of the mechanisms of RHD gene expression and RhD antigen immunization.

  5. Association study between the TP53 Rs1042522G/C polymorphism and susceptibility to systemic lupus erythematosus in a Chinese Han population.

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    Yang, Jie; Zhu, Ji-Min; Wu, Song; Li, Jing; Wang, Ming-Rui; Wang, Ting-Ting; Lu, Yu-Wei

    2017-04-01

    Tumour suppressor protein 53 (p53) plays a central role in apoptosis, cell proliferation and death. Previously studies found contribution of functional p53 Arg72Pro polymorphism (TP53 rs1042522G/C polymorphism) in the development of systemic lupus erythematosus (SLE) remains controversial. In this study, for the first time, we evaluated its association with SLE in a Chinese Han population. This case-control study enrolled 1470 SLE patients and 2283 healthy controls. The genotyping of TP53 rs1042522 polymorphism was determined by Sequenom Mass ARRAY technology. Statistical analysis was conducted by Chi-square test (χ (2) test). Odds ratio (OR) with 95% confidence interval (CI) was calculated using unconditional logistic regression with adjusting age and sex. Allele and genotype frequencies of TP53 rs1042522G/C polymorphism showed statistically significant difference between the SLE patients and the normal controls (C vs. G: OR = 0.89, 95% CI 0.89-0.97, p = 0.01; (GC + CC) vs. GG using recessive model: OR = 0.84, 95% CI 0.73-0.96, p = 0.01; GC vs. GG using co-dominant model: OR = 0.86, 95% CI 0.74-0.99, p = 0.04; CC vs. GG using co-dominant model: OR = 0.80, 95% CI 0.66-0.96, p = 0.02; GC vs. GG using co-dominant model: OR = 0.86, 95% CI 0.74-0.99, p = 0.02). In addition, there was weak association between discoid rash and distribution of TP53 rs1042522G/C polymorphism in SLE patients (C vs. G: OR = 1.25, 95% CI 1.00-1.55, p = 0.04; CC vs. GG using co-dominant model: OR = 1.54, 95% CI 1.10-2.36, p = 0.04). Our finding suggests a significant relationship between the TP53 rs1042522G/C polymorphism and SLE. TP53 rs1042522G/C polymorphism would be promising as an indicator of SLE as well as the therapeutic target if its functions and mechanisms could be further investigated.

  6. Ancient DNA reveals that the genetic structure of the northern Han Chinese was shaped prior to 3,000 years ago.

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

    2015-01-01

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

  7. 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

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    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.

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

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    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.

  9. A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population.

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    Miura, Kiyonori; Mishima, Hiroyuki; Yasunami, Michio; Kaneuchi, Masanori; Kitajima, Michio; Abe, Shuhei; Higashijima, Ai; Fuchi, Naoki; Miura, Shoko; Yoshiura, Koh-Ichiro; Masuzaki, Hideaki

    2016-09-01

    In this study, associations between invasive cervical cancer and four cervical cancer susceptibility loci (rs13117307 at 4q12, rs8067378 at 17q12, and rs4282438 and rs9277952 at 6p21.32) in the Han Chinese population were investigated in a Japanese population. Human leukocyte antigen (HLA)-DPB1 alleles were also investigated for their association with cervical cancer risk in the Japanese population. After receiving written informed consent, 214 unrelated Japanese women with invasive cervical cancer and 288 cancer-free Japanese women were recruited, and DNA samples were obtained (study protocol approved by Institutional Review Board of Nagasaki University). Of the four single-nucleotide polymorphisms, rs8067378 showed a significant association with invasive cervical cancer (P=0.0071). Under a recessive model, the minor allele G of rs8067378 contributed to the risk of invasive cervical cancer (odds ratio=2.92, 95% confidence interval=1.40-6.36; P=0.0021). No association was detected between HLA-DPB1 alleles and cervical cancer risk in the Japanese population. In conclusion, we show for the first time, to the best of our knowledge, that an association between increased risk of invasive cervical cancer and rs8067378 in the Han Chinese population is replicated in a Japanese population. In addition, Japanese women with the GG genotype of rs8067378 are a candidate high-risk group for invasive cervical carcinoma.

  10. Altofrequency SNPs of mitochondrial DNA in 26 Han Chinese

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    LUO Yong-jun; GAO Wen-xiang; GAO Yu-qi; CHEN Jian; TAN Xiao-ling; LIU Xin; CHEN Hai-hua

    2007-01-01

    Objective:To explore the possible mitochondrial DNA (mtDNA) polymorphism in Han Chinese.Methods:The complete mitochondrial genome of 26 unrelated healthy Han Chinese were extracted and sequenced.Results:The mtDNA nucleotide sites (2 706,7 028,8 860,11 719,and 15 326)were found totally different from the Revised Cambridge Reference Sequence (rCRS).These single nucleotide polymorphisms (SNPs) were 2 706 A→G,7 028 C→T,8 860 A→G,11 719 G→A,15 326 A→G.Conclusion:These findings provide new insights into the characteristics of Han Chinese mitochondrial genetic diversity.

  11. T allele at site 6007 of bone morphogenetic protein-4 gene increases genetic susceptibility to ossification of the posterior longitudinal ligament in male Chinese Han population

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    MENG Xiang-long; WANG Hao; YANG Hui; HAI Yong; TIAN Bao-peng; LIN Xin

    2010-01-01

    Background Several candidate genes of ossification of the posterior longitudinal ligament (OPLL) susceptibility have been identified, but their polymorphisms account for only a small percent of the total variance. Bone morphogenetic protein-4 (BMP4) is a potent ectopic ossification inducing factor. BMP4 protein and mRNA are present in cells from OPLL patients, but not non-OPLL controls. A single nucleotide polymorphism of 6007C>T(rs17563) of BMP4 has been reported to affect bone density in postmenopausal women. Thus, BMP4 may function in OPLL development. Appropriately, the relationship between BMP4 polymorphisms and OPLL was investigated.Methods A case-control association study investigated the genetic etiology in 179 OPLL patients and 298 non-OPLL controls. Extent of OPLL was analyzed by radiologic examinations. Whether single nucleotide polymorphism (SNP) of -5826G>A(rs1957860) 5′ of the transcription start site and 6007C>T(rs17563) in exon 4 of the BMP4 gene were statistically associated with genetic susceptibility to OPLL in Chinese Han subjects was assessed.Results A significant statistical difference in genotype of 6007C>T polymorphism between male OPLL patients and male controls was evident, and the frequency of "TT" genotype in male OPLL patients was significantly higher than in male controls (P=0.039). The frequency of the "T" allele was also significantly higher in male OPLL subjects than in male controls (P=0.014, 0R=1.57). A significant difference was also observed between the 6007C>T polymorphism and the number of ossified cervical vertebrae in OPLL patients, while no statistical difference was apparent between the -5826G>A polymorphism and OPLL occurrence.Conclusions The T allele in the 6007C>T polymorphism may be a risk factor for male Han Chinese with ossification of the posterior longitudinal ligament in the cervical spine. Chinese Han male patients with CT and TT 6007C>T genotypes have a genetic susceptibility to OPLL and more extensive OPLL in

  12. 中国人群ABO血型系统基因分型研究与应用%Genotyping of ABO blood group in Chinese Han population

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    喻琼; 吴国光; 梁延连; 苏宇清

    2005-01-01

    rapidity, serological technology has its inherent limitation, for which ABO genotyping provides a valuable alternative.OBJECTIVE: To study ABO gene polymorphism in Chinese Han population and apply ABO genotyping technique to solve serological problems in clinical practice of blood transfusion.DESIGN: Comparison of ABO genotyping results of random selected samples with those of routine serological phenotyping.SETTING: An institute of transfusion medicine in a municipal blood center.PARTICIPANTS: Totally 260 unrelated healthy Chinese blood donors of Han nationality were randomly selected in Shenzhen Blood Center from March to December in 2002, including 110 male and 150 female subjects aged between 18 and 50 years. A sample with discrepancy in serological ABO phenotype was from our blood center, and the donor' s family was investigated. Six samples suspected to be A2 phenotype by serological test were from four hospitals in Shenzhen including the Second People' s Hospital of Shenzhen.METHODS: The DNA was extracted from the peripheral blood by rapid salt fractionation, and subjected to polymerase chain reaction(PCR) with sequence-specific primers (PCR-SSP) to amplify the ABO gene for ABO genotyping. The alleles of the blood type difficult to determine were amplified with PCR-SSP on the basis of serologic tests including absorption and elution test and agglutination inhibition assay of salivary blood-group substances.MAIN OUTCOME MEASURES: Genotypes and phenotypes of the blood samples from 260 individuals and of the samples with serological ABO discrepancy.RESULTS: In the 260 Chinese Han individuals, in accordance with Hardy-Weinberg equilibrium, the gene frequencies of O1, B, A1O1(A467c), A1O2/1O3(A467T) alleles were 0. 582 7, 0. 184 6, 0. 009 6, and 0. 2231, respectively. Two of the six individuals with difficulty of blood type determination and suspected to have A2 phenotype by serological tests proved to have A2O1O1 genotype, and the rest were all of A1O2/A1O3O1. Three

  13. There is no association between microRNA gene polymorphisms and risk of triple negative breast cancer in a Chinese Han population.

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    Fei Ma

    Full Text Available Triple-negative breast cancer (TNBC is defined by the lack of the expression of estrogen receptor (ER, progesterone receptor (PR and human epidermal growth factor receptor 2 (HER2. It is characterized by aggressive behavior, poor prognosis and lack of targeted therapies. MicroRNA (miRNA as a novel modulator of gene expression has played an important regulatory role in the malignancy. Dysregulation and/or mutation of the miRNAs may also contribute to the TNBC susceptibility since it is associated with the expression of ER, PR and HER2. Single nucleotide polymorphisms (SNPs in miRNAs may be extremely relevant for TNBC. We tried to validate the hypothesis that genetic variations in miRNA are associated with TNBC development, and identify candidate biomarkers for TNBC susceptibility and clinical treatment. We screened the genetic variants in all miRNA genes listed in the public database miRBase and NCBI. A total of 23 common SNPs in 22 miRNAs, which tagged the known common variants in the Chinese Han people with a minor allele frequency greater than 0.05, were genotyped. This case-control study involved 191 patients with TNBC and 192 healthy female controls. Frequencies of SNPs were compared between cases and controls to identify the SNPs associated with TNBC susceptibility. No significant association was found between TNBC risk and the SNPs in the miRNA genes in the Chinese Han people (P>0.05, but this warrants further studies.

  14. single nucleotide Polymorphisms rs2227284, rs2243283 and rs2243288 in the Il-4 Gene show no association with susceptibility to Chronic Hepatitis B in a Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    2014-01-01

    Objective To investigate the relationship between single nucleotide polymorphisms (SNPs) of the interleukin-4 (IL-4) gene and outcome of hepatitis B virus (HBV) infection in a Chinese Han population. Methods Total of 501 patients with chronic hepatitis B virus (HBV) infection and 301 controls with self-limiting HBV infection were studied. Three tag SNPs in the IL-4 gene (rs2227284G/T, rs2243283C/G and rs2243288A/G) were genotyped by the Multiplex snapshot technique. The genotype and allele frequencies were calculated and analyzed. Results The three SNPs showed no significant genotype/allele associations with chronic HBV infection. Overall allele P values were:rs2227284, P=0.655, odds ratio (OR) [95%conifdence interval (CI)]=1.070 (0.793-1.445);rs2243283, P=0.849, OR (95%CI)=0.976 (0.758-1.257);rs2243288, P=0.659, OR (95%CI) = 1.060 (0.818-1.375). Overall genotype P values were: rs2227284, P = 0.771; rs2243283, P = 0.571;rs2243288, P=0.902. There were no statistically signiifcant differences between patients with chronic HBV infection and controls. Haplotypes generated by these three SNPs also had no signiifcant differences between the two groups. Conclusions The three tag SNPs of IL-4 were not associated with the outcome of HBV infection in the Han Chinese population.

  15. Single-nucleotide polymorphism of the pri-miR-34b/c gene is not associated with susceptibility to congenital heart disease in the Han Chinese population.

    Science.gov (United States)

    Liu, Y-M; Wang, Y; Peng, W; Wu, Z; Wang, X-H; Wang, M-L; Wang, W; Sun, J; Zhang, Z-D; Mo, X-M

    2013-08-12

    Recent evidence has shown that the microRNA polymorphism may play an important role in the susceptibility to congenital heart disease (CHD). A potentially functional SNP rs4938723 (T>C) in the promoter region of pri-miR-34b/c might affect transcription factor GATA binding and therefore pri-miR-34b/c expression. We genotyped the pri-miR-34b/c polymorphism in a case-control study of 590 patients and 672 controls in a Han Chinese population and assessed the effects of the pri-miR-34b/c polymorphism on CHD susceptibility by TaqMan SNP genotyping assay. There was no association between the pri-miR-34b/c polymorphism and the risk of CHD in both genotype and allelic frequency. In a subsequent analysis of the association between this polymorphism and CHD classification, there was still no significant difference in both genotype and allelic frequency. Our results suggest that the pri-miR-34b/c polymorphism rs4938723 is not associated with susceptibility to sporadic CHD in the Han Chinese population.

  16. Rh阳性个体RHD杂合性分析%An analysis of RHD zygosity of Rh(D)-positive Chinese Han population

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    邵超鹏; 秦建江; 孙国栋; 徐红先; 马林峰

    2011-01-01

    Objective To investigate the RHD zygosity of Rh(D)-positive Chinese Hans in order to study the mother-fetus Rh isoimmunization prophylaxis. Methods Rh(D) blood group of 31 115 donors were serotyped, and the RHD zygosities were analyzed, or determined through a PCR method for 3628 donors of Rh(D)-positive individuals. Results Among the 31 115 donors, 99 were tested Rh(D)-negative by indirect antiglobulin test (IAT) (0. 318%). The d frequency was 0. 056 41, D was 0. 943 59, and Dd heterozygosity was 0. 106 45 (10.6%). However the rate was 0.090 32 (about 9.0%) after excluding DEL (IAT-negative). For the 3628 PCR tested donors, 3383 were DD (93. 2%), 245 were Dd (6.8%). After excluding nonfunctional RHD alleles, 7. 4% of the donors were carrying one functional RHD. It showed that an Rh(D)-negative Chinese Hah woman gives an Rh(D)-negative child at a rate of 3.7%-4. 5% when her husband is Rh (D)-positive. Conclusion Fetus Rh (D)-genotyping may be unnecessary for Chinese Hans if invasive operation was needed for prenatal diagnosis. The Rh prophylaxis could be chosen assuming an Rh(D)-positive fetus.%目的 分析中国汉族Rh(D)阳性个体的RHD杂合性,讨论Rh阴性妇女产前Rh同种免疫预防策略.方法 血清学检测31 115名汉族捐血者的Rh(D)表型,分析Rh(D)阳性个体的RHD杂合率;对其中3628名随机Rh阳性个体采用PCR方法直接测定RHD合子型,计算杂合率与前者比较.结果 31 115名捐血者中采用间接抗人球蛋白试验(indirect antiglobulin test,IAT)确认99名个体为Rh(D)阴性(0.318%),d基因频率0.056 41,D基因频率0.943 59,Dd杂合型0.106 45(10.6%),考虑IAT检测D放散型为Rh(D)阴性,计算后实际Dd杂合型为0.090 32(约9.0%);PCR测定3628名Rh阳性个体RHD合子型测定显示DD纯合型3383人(93.2%),Dd杂合体245名(6.8%),由于无效RHD等位基因的PCR结果为阳性(D),重新分析后实际携带1条功能性RHD基因的杂合性个体约7.4%.提示中国汉族Rh(D)阴性妇女当配偶为

  17. Genetic relationship between serum pregnancy-associated plasma protein-A gene polymorphism and ischemic cerebrovascular disease in a Northern Han Chinese population

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    Haiping Wang; Yan Song; Chen Zhang; Jingjing Zhan; Rui Zhang; Haiji Wang

    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 immunosorbent assay analysis revealed increased levels of serum pregnancy-associated plasma protein-A (PAPP-A) in ischemic cerebrovascular disease patients compared with healthy controls.In addition, the patients exhibited greater frequency of genotype CC and C alleles in a missense A/C (Tyr/Ser) polymorphism (dbSNP: rs7020782) of exon 14 in the PAPP-A gene.Multiple-factor logistic regression analysis on correction of age, gender, history of smoking, hypertension, diabetes mellitus, hypercholesteremia, and ischemic stroke family history showed that the risk for ischemic cerebrovascular disease in the population without the A allele at the A/C genetic locus in exon 14 of the PAPP-A was 2-folds greater than the population expressing the A allele.These experimental findings suggested that ischemic cerebrovascular disease correlated with the C allele in exon 14 of PAPP-A.In addition, the A allele is likely a protective gene; individuals carrying the A allele were less prone to ischemic cerebrovascular disease compared with individuals without the A allele.

  18. SNPs discovery and linkage disequilibrium analysis of BSG in Chinese Han population%中国汉族人群BSG基因SNPs发掘与连锁不平衡分析

    Institute of Scientific and Technical Information of China (English)

    郑杰; 李慕鹏; 孙涛; 呼晓雷; 李元建; 陈小平

    2013-01-01

    Objective:To identify BSG single nucleotide polymorphisms (SNPs) in Chinese Han population. Methods:Peripheral blood samples were collected from 48 unrelated healthy Chinese Han subjects. Sequences at the BSG locus, including the promoter region, all exons and exon-intron boundaries were ampliifed, sequenced and followed by Hardy-Weinberg equilibrium test and linkage disequilibrium (LD) analysis. Results:A total of 19 SNPs were identiifed, 2 of which two were novel. Genotype distributions of all SNPs were consistent with Hardy-Weinberg equilibrium. Four haplotype blocks were constructed throughout the gene locus, and 9 haplotype tag SNPs (htSNPs) were inferred. Distribution of SNPs was in accordance with the neutrality theory in Chinese Han population. Conclusion:For the ifrst time, systematic identiifcation of BSG SNPs in the Chinese Han population has been done, and 9 htSNPs are identified. Our study has provided basis for further genetic association studies for related diseases as wel as pharmacogenetics study for drug response in Chinese Han population.%目的:探讨健康中国汉族人群中basigin(BSG)基因的单核苷酸多态性(single nucleotide polymorphisms,SNPs)发生情况。方法:随机收集48例健康、无亲缘关系的中国汉族人外周血液并提取基因组DNA,设计引物对所有个体BSG基因的启动子区、外显子区和外显子内含子交界区的序列进行PCR扩增和正反向测序,通过判读测序峰图,明确SNPs的发生情况及其频率;通过Hardy-Weinberg平衡分析、单倍型推测和连锁不平衡分析,确定BSG基因位点的单倍型标签SNPs(haplotype tag SNPs,htSNPs);中性理论检验查明该基因位点SNPs频率分布是否符合选择中性。结果:共发现19个SNPs,其中包括2个新发现的SNPs;所有SNPs位点基因型分布均符合Hardy-Weinberg平衡。该基因位点共推测出4种常见单倍型域,确定9个SNPs为htSNPs。中性理论检验结果提示

  19. Association of-238G/A polymorphism of tumor necrosis factor-alpha gene promoter region with outcomes of hepatitis B virus infection in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Liang-Ping Lu; Xing-Wang Li; Ying Liu; Guo-Chang Sun; Xue-Ping Wang; Xi-Lin Zhu; Quan-You Hu; Hui Li

    2004-01-01

    AIM: To clarify whether -238G/A polymorphism of tumor necrosis factor-α (TNF-α) gene promoter region was associated with outcomes of hepatitis B virus (HBV) infection in Han population of northem China, and to analyze the geneenvironment interaction between -238G/A polymorphism and cigarette smoking or alcohol consumption.METHODS: A case-control study was conducted to analyze the association of TNF-α gene promoter polymorphism with HBV infection outcomes. A total of 207 patients with chronic hepatitis B (HB) and 148 cases of self-limited HBV infection from Ditan Hospital and Shunyi District Hospital in Beijing,respectively were recruited. History of smoking and alcohol drinking was inquired by a questionnaire. The -238G/A polymorphism of TNF-α gene promoter was genotyped by polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP).RESULTS: The frequencies of GG and GA genotypes were 98.07% and 1.93% in chronic HB patients and 93.24% and 6.76% in self-limited HBV infection individuals, respectively (x2=5.30, P=0.02). The frequency of G allele was significantly higher in patients with chronic HB that in individuals with self-limited HBV infection (99.03% vs 96.62%, x2=5.20,P=0.02). Only modestly increased risk of onset of chronic HB was found in smokers (OR=1.40, 95% CI: 0.87-2.28,P=0.14) and drinkers (OR=1.26, 95%CI: 0.78-2.05, P=0.32).There was a positive interaction between genotype GG and cigarette smoking with an interaction index (Ⅱ) of 2.95, or alcohol consumption with an Ⅱ of 1.64.CONCLUSION: The -238G/A polymorphism of TNF-α gene promoter region is independently associated with different outcomes of HBV infection.

  20. Relationship between reduced nicotinamide adenine dinucleotide phosphate oxidase subunit p22phox gene polymorphism and obstructive sleep apnea-hypopnea syndrome in the Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    LIU Hui-guo; LIU Kui; ZHOU Yan-ning; XU Yong-jian

    2009-01-01

    Background Increased production of reactive oxygen species (ROS) is thought to play a major role in the pathogenesis of obstructive sleep apnea-hypopnea syndrome (OSAHS). The reduced nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex is an important source of ROS. The p22phox subunit is polymorphic with a C242T variant that changes histidine-72 for a tyrosine in the potential heme binding site. This study aimed to investigate the relationship between NADPH oxidase subunit p22phox gene polymorphism and OSAHS. Methods The genotypes of p22phox polymorphism were determined by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) assay in 176 unrelated subjects of the Han population in southern region of China (including 107 OSAHS subjects and 69 non-OSAHS subjects), while the plasma concentration of superoxide dismutase (SOD) was detected in the two groups, and p22phox mRNA expression in peripheral blood mononuclear cell (PBMC) was determined with reverse transcription polymerase chain reaction (RT-PCR).Results The phagocyte NADPH oxidase subunit p22phox mRNA expression was significantly increased in the OSAHS group than that in the non-OSAHS group (P<0.01). Compared with the non-OSAHS control group ((85.31±9.23) U/ml), the levels of SOD were lower in patients with OSAHS ((59.65±11.61) U/ml (P<0.01). There were significant differences in genotypes distribution in p22phox polymorphism between the two groups (P=0.02). Compared with the non-OSAHS control group, the OSAHS group had a significantly higher T allele frequency in p22phox polymorphism (P=0.03). There were independent effects of p22phox polymorphism on body mass index (BMI), neck circumference (NC), waist-to-hip ratio (WHR) in the OSAHS group, and the carriers of the T allele of p22phox polymorphism had greater NC, WHR, systolic blood pressure (SBP), diastolic blood pressure (DBP) and apnea-hypopnea index (AHI) (P <0.05), but the carriers of the T allele had lower SOD

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

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    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.

  2. 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

  3. Association of single nucleotide polymorphisms of IL23R and IL17 with ulcerative colitis risk in a Chinese Han population.

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    Pengli Yu

    Full Text Available BACKGROUND: Previous studies implicated that IL23R and IL17 genes play an important role in autoimmune inflammation. Genome-wide association studies have also identified multiple single nucleotide polymorphisms (SNPs in the IL23R gene region associated with inflammatory bowel diseases. This study examined the association of IL23R and IL17A gene SNPs with ulcerative colitis susceptibility in a population in China. METHODOLOGY: A total of 270 ulcerative colitis and 268 healthy controls were recruited for the analyses of 23 SNPs in the IL23R and IL17A regions. Genomic DNA was extracted and analysis of these 23 SNPs using ligase detection reaction allelic (LDR technology. Genotype and allele associations were calculated using SPSS 13.0 software package. PRINCIPAL FINDINGS: Compared to the healthy controls, the variant alleles IL23R rs7530511, and rs11805303 showed a statistically significant difference for ulcerative colitis susceptibility (0.7% vs 3.3%, P = 0.002; 60.4% vs 53.2%, P = 0.0017, respectively. The linkage disequilibrium (LD patterns of these SNPs were measured and three LD blocks from the SNPs of IL23R and one block from those of IL17A were identified. A novel association with ulcerative colitis susceptibility occurred in haplotypes of IL23R (Block1 H3 P = 0.02; Block2 H2 P = 0.019; Block3 H4 P = 0.029 and IL17A (H4 P = 0.034. Pair-wise analyses showed an interaction between the risk haplotypes in IL23R and IL17A (P = 0.014. CONCLUSIONS: Our study demonstrated that rs7530511, and rs11805303 of IL23R were significantly associated with ulcerative colitis susceptibility in the Chinese population. The most noticeable finding was the linkage of IL23R and IL17A gene region to ulcerative colitis risk due to the gene-gene interaction.

  4. IL-6基因多态性和中国汉族人群衰老关系的初步探讨%Preliminary study on the relationship between IL-6 gene polymorphism and Chinese Han population aging

    Institute of Scientific and Technical Information of China (English)

    张伟光; 李典耕; 张敏; 白小涓; 孙雪峰; 蔡广研; 陈香美

    2013-01-01

    目的 研究白介素6(IL-6)基因多态性与中国汉族人群衰老的关系.方法 在482例(年轻236例,老年246例)沈阳地区健康汉族人群,采用Snapshot(微测序)的方法检测白介素6基因标签SNP(TagSNP) rs1524107位点的基因型,观察IL-6基因多态性与衰老的可能关系.结果 本研究证实在中国沈阳地区健康汉族人群中IL-6基因的TagSNP -rs1524107位点存在CC,TT,CT基因型.年轻人群基因型分布为CC型19例(8.05%),CT型82例(34.74%),TT型135例(57.20%);老年人群基因型分布为CC型21例(8.53%),CT型85例(34.55%),TT型140例(56.91%);rs1524107位点基因型分布在老年人群和年轻人群间没有统计学差异.结论 IL-6基因多态性与衰老未发现明显相关.%Objective To explore the relationship of the interleukin 6 gene polymorphism with Chinese Han population aging.Methods Snapshot ( mini -sequencing) method was used to detect the genotypes of interleukin 6 TagSNP rsl524107 locus in 482 healthy Han individuals in Shenyang ,and observe the possible relationship of interleukin-6 gene polymorphism with aging.Results CC,TT,CT genotypes of IL-6 gene TagSNP-rs 1524107 locus were found in the Shenyang Han healthy population .CC,CT and TT in aged population were found in 21(8.53% ) , 85 ( 34.55% ) , 140 ( 56.91 % ) , respectively, while 19 ( 8.05% ) , 82 (34.74% ) , 135 (57.20% ) in young population.The rs1524107 genotype distribution had no significant difference between the aging population and the young.Conclusion IL-6 gene polymorphism and aging are not significantly correlated .

  5. Polymorphic variations in manganese superoxide dismutase (MnSOD) and endothelial nitric oxide synthase (eNOS) genes contribute to the development of type 2 diabetes mellitus in the Chinese Han population.

    Science.gov (United States)

    Li, J Y; Tao, F; Wu, X X; Tan, Y Z; He, L; Lu, H

    2015-10-21

    Impaired antioxidant defense increases the oxidative stress and contributes to the development of type 2 diabetes mellitus (T2DM). MnSOD and eNOS are important antioxidant enzymes. This aim of this study was to verify the association of MnSOD and eNOS tagSNPs with T2DM in a Chinese Han population. Four tagSNPs of MnSOD and eight tagSNPs of eNOS were detected using TaqMan technology in 1272 healthy controls and 1234 T2DM patients. All study participants were unrelated members of the Han ethnic group in China. In this study, the frequency of the rs4880 MnSOD single nucleotide polymorphisms (SNP) genotype differed significantly between T2DM patients and controls [allele: P = 0.03, genotype: P = 0.04, odd's ratio (OR) = 1.26; 95% confidence interval (CI) = 1.07-1.49]. The A-T haplotype and G-T haplotype remained significant in T2DM after Bonferroni correction (P = 1.58 x 10(-6) and 8.00 x 10(-4), respectively) with a global p-value of 7.25 x 10(-8). The rs1799983 and rs891512 SNPs of eNOS differed significantly between T2DM patients and controls [rs1799983: corrected allele: P = 2.10 x 10(-3), corrected genotype: P = 6.30 x 10(-3), OR = 1.43 (95%CI = 1.18-1.73); rs891512, corrected allele: P = 3.50 x 10(-3), corrected genotype: P = 9.10 x 10(-3), OR = 1.70 (95%CI = 1.26-2.30)]. Following Bonferroni correction, none of the haplotypes of eNOS were significant in T2DM. These results indicate that common variants in MnSOD and eNOS increased the risk of T2DM in the Chinese Han population.

  6. 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.

  7. Associations of Polymorphisms in MTHFR Gene with the Risk of Age-Related Cataract in Chinese Han Population: A Genotype-Phenotype Analysis.

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    Xue-bin Wang

    Full Text Available Homocysteine (Hcy is a potential risk factor for age-related cataract (ARC. Methylenetetrahydrofolate reductase (MTHFR is the key enzyme for Hcy metabolism, and variants of MTHFR may affect MTHFR enzyme activity. This study mainly evaluated the associations between variants in MTHFR gene, plasma MTHFR enzyme activity, total Hcy (tHcy levels and ARC risk in Chinese population. Four single nucleotide polymorphisms (SNPs in MTHFR gene were genotyped using the high-resolution melting (HRM method in 502 ARC patients (mean age, 70.2 [SD, 9.0], 46.0% male and 890 healthy controls (mean age, 67.1 [SD, 11.1], 47.6% male. The plasma MTHFR activity, folic acid (FA, vitamins B12 and B6 levels were detected by enzyme-linked immunosorbent assays (ELISA. The plasma tHcy levels were measured by an automated enzymatic assay. After the Bonferroni correction, the minor allele T of SNP rs1801133 showed a significant association with an increased risk of overall ARC (OR = 1.26, P = 0.003. Consistent association was also found between SNP rs1801133 and cortical ARC risk (OR = 1.44, P = 0.003. Haplotype analyses revealed an adverse effect of the haplotype "C-A-T-C" (alleles in order of SNPs rs3737967, rs1801131, rs1801133 and rs9651118 on ARC risk (OR = 1.55, P = 0.003. Moreover, in a joint analysis of SNPs rs9651118 and rs1801133, subjects with two unfavorable genotypes had a 1.76-fold increased risk of ARC compared with the reference group, and a statistically significant dose-response trend (Ptrend = 0.001 was also observed. Further, in healthy controls and patients with cortical ARC, the allele T of SNP rs1801133 and the increasing number of unfavorable genotypes were significantly correlated with decreased MTHFR activity as well as increased tHcy levels. However, there was no significant association between FA, vitamins B12, B6 levels and MTHFR variants. Our data indicated that variants in MTHFR gene might individually and jointly influence susceptibility to ARC

  8. 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

  9. 代谢型谷氨酸受体3基因多态性与酒依赖的关联研究%An association study of GRM3 polymorphisms with alcohol dependence in a Han Chinese population

    Institute of Scientific and Technical Information of China (English)

    唐春玲; 胡建; 夏炎

    2012-01-01

    Objective To investigate the association of metabotropic glutamate receptor 3 (CRM3) gene polymorphisms and alcohol dependence in a Han Chinese population in northern China. Methods Polymerase chain reaction (PCR) and ligase detection reaction (LDR) were used to detect 3 single-nucleotide polymorphisms (SNPs) rsl468412, rs917071 and rsl989796 on metabotropic glutamate receptor 3 gene in 100 patients with alcohol dependence and 100 controls. Results There was no significant difference between the alcohol dependence group and the control group in the allele frequency and genotype distribution of those three SNPs. Haplotype TIT constructed by those three SNPs loci rs1468412-rs917071-rsl989796 was positively associated with the incidence of alcohol dependence (AD group 6%, control group 1%, OR = 5.17, P < 0.05). The possibility of alcohol dependence was higher in the patients carrying TIT genotype than in the controls. Conclusion The present study has not revealed any association between each SNP (rsl468412, rs917071, and rsl989796) of the GRM3 gene and alcohol dependence in this northern Chinese Han population. However, The haplotype TIT constructed by the three SNPs is positively associated with alcohol dependence, indicating that GRM3 may be a susceptible factor of alcohol dependence in northern Chinese Han population.%目的 探讨中国北方汉族人群代谢型谷氨酸受体3 (GRM3)基因多态性与酒依赖的相关性.方法 采用聚合酶链反应(Polymerase Chain Reaction,PCR)和连接酶检测反应(Ligase Detection Reaction,LDR)方法,检测100例酒依赖患者和100例正常对照的GRM3基因上3个位点rs1468412、rs917071和rs1989796的基因多态性.结果 酒依赖组和对照组之间GRM3基因rs1468412、rs917071以及rs1989796位点的等位基因频率和基因型分布的差异均无统计学意义(P>0.05),但酒依赖组中rs1468412、rs917071和rs19897963个位点所构建的单倍型TTT的频率明显高于对照组(6% vs.1%,OR=5

  10. 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.

  11. The Impact of tagSNPs in CXCL16 Gene on the Risk of Myocardial Infarction in a Chinese Han Population

    Science.gov (United States)

    Xu, Shun; Cheng, Jie; Cai, Meng-yun; Liang, Li-li; Cen, Jin-ming; Yang, Xi-li; Chen, Can

    2017-01-01

    CXCL16 has been demonstrated to be involved in the development of atherosclerosis and myocardial infarction (MI). Nonetheless, the role of the CXCL16 polymorphisms on MI pathogenesis is far to be elucidated. We herein genotyped four tagSNPs in CXCL16 gene (rs2304973, rs1050998, rs3744700, and rs8123) in 275 MI patients and 670 control subjects, aimed at probing into the impact of CXCL16 polymorphisms on individual susceptibility to MI. Multivariate logistic regression analysis showed that C allele (OR = 1.31, 95% CI = 1.03–1.66, and P = 0.029) and CC genotype (OR = 1.84, 95% CI = 1.11–3.06, and P = 0.018) of rs1050998 were associated with increased MI risk; and C allele (OR = 0.77, 95% CI = 0.60–0.98, and P = 0.036) of rs8123 exhibited decreased MI risk, while the other two tagSNPs had no significant effect. Consistently, the haplotype rs2304973T-rs1050998C-rs3744700G-rs8123A containing the C allele of rs1050998 and A allele of rs8123 exhibited elevated MI risk (OR = 1.41, 95% CI = 1.02–1.96, and P = 0.037). Further stratified analysis unveiled a more apparent association with MI risk among younger subjects (≤60 years old). Taken together, our results provided the first evidence that CXCL16 polymorphisms significantly impacted MI risk in Chinese subjects.

  12. Genetic Variation in Metastasis-Associated in Colon Cancer-1 and the Risk of Breast Cancer Among the Chinese Han Population

    Science.gov (United States)

    Dai, Zhi-Jun; Liu, Xing-Han; Kang, Hua-Feng; Wang, Xi-Jing; Jin, Tian-Bo; Zhang, Shu-Qun; Feng, Tian; Ma, Xiao-Bin; Wang, Meng; Feng, Yan-Jing; Liu, Kang; Xu, Peng; Guan, Hai-Tao

    2016-01-01

    BC susceptibility and may be involved in the progression of BC in Chinese women. PMID:26871844

  13. DNA methyltransferase 3B promoter polymorphism and its susceptibility to primary hepatocellular carcinoma in the Chinese Han nationality population: A case-control study

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    AIM: To investigate the correlation between C/T single nucleotide polymorphism (SNP) in the promoter of the DNA methyltransferase 3B (DNMT3B) gene and risk for development and progression of primary hepatocellular carcinoma (HCC).METHODS: One hundred case subjects were selected consecutively from Tongji Hospital (Wuhan, China).from March to November 2006. They did not receive radiotherapy or chemotherapy for newly diagnosed and histopathologically confirmed HCC. One hundred and forty control subjects having no history of cancerous or genetic diseases were healthy volunteers to Wuhan Blood Center in the same period. Frequency was matched for sex, age, alcohol consumption and cigarette smoking status of the case subjects. C/T polymorphism of the DNMT3B promoter was analyzed using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) and sequencing analysis. The association between genotypes of DNMT3B and clinicopathological parameters among cases was also studied.RESULTS: The CC genotype was not detected in both HCC patients and controls. In control ubjects, the frequency of TT and CT genotypes was 99.3% and 0.7%respectively, and that of T and C alleles was 99.6%and 0.4% respectively. The frequency of CT genotype was higher in HCC (3.0%). The frequency of T and C alleles was 98.5% and 1.5% respectively. However, the genotype and allelotype distribution in HCC patients was not significantly different from that in controls.CONCLUSION: C/T polymorphism is not associated with the increased risk of HCC. DNMT3B enetic polymorphism is variable in different races, ethnic groups or geographic areas. Further study is needed to clarify the role of DNMT3B SNP in the development of HCC among other populations.

  14. Establishment of Immortalized Human Lymphocytes Cell Lines with Multiple SNP Genotyping in Chinese Han Population%中国汉族人群代谢酶基因分型永生化淋巴细胞库的建立

    Institute of Scientific and Technical Information of China (English)

    张娟; 熊梦祯; 尹立红; 浦跃朴

    2011-01-01

    目的 建立汉族人群代谢酶基因分型的永生化淋巴细胞库,为单核苷酸多态(SNP)结构对毒物诱导的基因功能表达的影响建立研究平台.方法 用EB病毒(Epstein-Barr Virus,EBV)转化中国汉族健康成人外周血B淋巴细胞,通过对中国汉族人群CYP2E1和NQ01的单核苷酸多态(SNP)位点信息分析,选择中国人群特异性CYP2EI、NQ01基因SNP位点CYP2E1rs2070673,CYP2E1rs2031921,CYP2E13813866,NQO1rs 1800566,NQO1rs10517,应用适配器连接介导的等位基因特异性扩增法(ALM-SAS)对上述位点进行基因分型.将供体信息和细胞株基因分型的信息录入,构建中国汉族基因分型的永生化淋巴细胞库.结果 通过对细胞株进行上述5个SNP位点的基因分型,获得每株细胞的基因分型信息,获得CYP2E1rs2070673,CYP2E1rs2031921,CYP2E13813866,NQO1rs 1800566,NQO1rs10517不同基因分型的永生化淋巴细胞株.结论 通过永生化细胞库的建立、基因分型,初步建立中国的汉族人群代谢酶基因分型永生化淋巴细胞库,该细胞库的进一步建设,可以为研究中国人群环境毒物和药物代谢酶基因结构和功能的关系提供技术平台.%Objective To establish immortalized human lymphocytes cell lines with multiple SNP genotyping of Chinese Han population which could afford a platform to study gene function expression influenced by SNPs structure induced by chemical Methods EBV (Epstein-Bart Virus) were used to immortalize peripheral B lymphocytes derived from Chinese Hah population. After analyzing CYP2EI、NQOI SNP database of Chinese population, the five Chinese specific SNP sites: CYP2EIrs2070673,CYP2Elrs2031921, CYP2E13813866,NQOlrs 1800566, NQOl rs10517 were genotyped by an adapter-ligation mediated allele specific amplification (ALM-ASA) method. The information of providers and genotypes of cell lines were input to establish the database of immortalized human lymphocytes cell lines with multiple SNP genotyping

  15. A comprehensive analysis of NDST3 for schizophrenia and bipolar disorder in Han Chinese.

    Science.gov (United States)

    Zhang, C; Lu, W; Wang, Z; Ni, J; Zhang, J; Tang, W; Fang, Y

    2016-01-05

    A novel susceptibility locus (rs11098403) for schizophrenia and bipolar disorder (BD) was identified in an Ashkenazi Jewish population by a recent large-scale genome-wide association study. The rs11098403 is located in the vicinity of the gene encoding N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3, (NDST3). This study aimed to replicate the results in a Han Chinese population and then potentially extend these findings. We performed a two-stage study to investigate the association of NDST3 with the schizophrenia and BD risk in the Han Chinese. In stage 1, a total of 632 patients with schizophrenia, 654 patients with BD and 684 healthy controls were recruited from the Shanghai region. In stage 2, 522 schizophrenia patients and 547 normal subjects were enrolled from the Hangzhou region. Then, we conducted a meta-analysis based on the present literature. In stage 1, the single nucleotide polymorphism (SNP) rs11098403 showed a significant association with schizophrenia (corrected P=0.005). The frequency of the rs11098403 G allele was significantly lower among schizophrenia patients than among the controls (odds ratio (OR)=0.68, 95% confidence interval (CI): 0.55-0.84, corrected P=0.002). No significant difference was observed in individual SNP marker genotypes or allele distributions between the BD and control groups. In stage 2, the association of rs11098403 with schizophrenia could be validated (genotypic P=0.001 and allelic P=0.0003). After pooling all data from 1861 patients with schizophrenia and 2081 controls, we observed a significant association of the rs11098403 G allele with schizophrenia (Z=5.56, Pschizophrenia in the Han Chinese. Further investigations are warranted to identify the precise mechanism regulating brain NDST3 expression in the Han Chinese. These results would help to explain the pathophysiological mechanism of schizophrenia.

  16. 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

    Institute of Scientific and Technical Information of China (English)

    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

  17. 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.

  18. 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 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

    2016-06-01

    Protein Z (PZ) and factor (F) VII are two important factors in the clotting pathway which have similar structure, linked function and nearby gene sites. The aims of this study were to investigate whether the common variants of PZ and FVII genes are associated with the risk of cerebral hemorrhage (CH) and to explore the combined effects of PZ and FVII polymorphisms for CH risk. We performed genotyping analysis for two single-nucleotide polymorphisms (SNPs) of FVII (rs510317 and rs6046) and three SNPs of PZ (rs2273971, rs3024718 and rs3024731) both in a population-based case-control study and in a family-based association study. Case-control analysis found no evidence of significant association. But family-based association 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, and four haplotypes carrying or crossing the 'A' allele of PZ rs2273971: haplotypes CA, ACAA, ACAT and ACAAT of PZ and FVII 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 genetic evidences that PZ and FVII genes, especially PZ rs2273971 are involved in the development of CH in Han-Chinese families.

  19. The genetic difference between Western and Chinese urothelial cell carcinomas: infrequent FGFR3 mutation in Han Chinese patients.

    Science.gov (United States)

    Yuan, Xiaotian; Liu, Cheng; Wang, Kun; Liu, Li; Liu, Tiantian; Ge, Nan; Kong, Feng; Yang, Liu; Björkholm, Magnus; Fan, Yidong; Zhao, Shengtian; Xu, Dawei

    2016-05-01

    Urothelial cell carcinoma (UCC) includes urothelial bladder carcinoma (UBC), renal pelvic carcinoma (RPC) and ureter carcinoma (UC), and its incidence varies dependent on geographical areas and tumor locations, which indicates different oncogenic mechanisms and/or different genetic susceptibility/environment exposure. The activating mutations of the fibroblast growth factor receptor 3 (FGFR3) gene and telomerase reverse transcriptase (TERT) promoter are the most frequent genetic events in UCCs. These mutations have clinical utilities in UCC initial diagnostics, prognosis, recurrence monitoring and management. However, the vast majority of the results are obtained from studies of UCC patients in Western countries, and little has been known about these in Han Chinese patients. In the present study, we screened the FGFR3 gene and TERT promoter for mutations in 116 UBC, 91 RPC and 115 UC tumors from Han Chinese patients by using Sanger Sequencing. TERT promoter mutations occurred at a high frequency in these UCC patients, comparable with that seen in Western patients, however, the FGFR3 mutation was surprisingly lower, only 9.4% for UBCs, 8.8% for RPCs and 2.6% for UCs, respectively. Taken together, the FGFR3 gene is an infrequent target in the pathogenesis of Han Chinese UCCs, and its mutation detection and targeted therapy have limited clinical utility in these patients. Our results underscore the need for extensive characterization of cancer genomes from diverse patient populations, thereby contributing to precision medicine for cancer treatment and prevention.

  20. The genetic difference between Western and Chinese urothelial cell carcinomas: infrequent FGFR3 mutation in Han Chinese patients

    Science.gov (United States)

    Liu, Li; Liu, Tiantian; Ge, Nan; Kong, Feng; Yang, Liu; Björkholm, Magnus; Fan, Yidong; Zhao, Shengtian; Xu, Dawei

    2016-01-01

    Urothelial cell carcinoma (UCC) includes urothelial bladder carcinoma (UBC), renal pelvic carcinoma (RPC) and ureter carcinoma (UC), and its incidence varies dependent on geographical areas and tumor locations, which indicates different oncogenic mechanisms and/or different genetic susceptibility/environment exposure. The activating mutations of the fibroblast growth factor receptor 3 (FGFR3) gene and telomerase reverse transcriptase (TERT) promoter are the most frequent genetic events in UCCs. These mutations have clinical utilities in UCC initial diagnostics, prognosis, recurrence monitoring and management. However, the vast majority of the results are obtained from studies of UCC patients in Western countries, and little has been known about these in Han Chinese patients. In the present study, we screened the FGFR3 gene and TERT promoter for mutations in 116 UBC, 91 RPC and 115 UC tumors from Han Chinese patients by using Sanger Sequencing. TERT promoter mutations occurred at a high frequency in these UCC patients, comparable with that seen in Western patients, however, the FGFR3 mutation was surprisingly lower, only 9.4% for UBCs, 8.8% for RPCs and 2.6% for UCs, respectively. Taken together, the FGFR3 gene is an infrequent target in the pathogenesis of Han Chinese UCCs, and its mutation detection and targeted therapy have limited clinical utility in these patients. Our results underscore the need for extensive characterization of cancer genomes from diverse patient populations, thereby contributing to precision medicine for cancer treatment and prevention. PMID:27029078

  1. 中国南京地区汉族人群血小板HPA-1-18遗传多态性研究%Genetic Polymorphism of Human Platelet Antigens 1 -18 in Chinese Nanjing Han Population

    Institute of Scientific and Technical Information of China (English)

    薛敏; 刘衍春; 魏鹏

    2012-01-01

    The purpose of this study was to investigate the allele frequencies of the human platelet alloantigens 1-18 system (HPA-1 -18) in Chinese Nanjing unrelated and healthy Han population, so as to provide the credible basis to screen compatible platelets for transfusing patients. The genotypes of 18 HP A systems were determined by polymerase chain reaction using sequence-specific primer (PCR-SSP) for 300 samples. The results showed that the gene frequencies obtained from 300 Nanjing unrelated population were 0.9183 and 0.0817 for HPA-2a and -2b, 0. 6100 and 0. 3900 for HPA-3a and -3b, 0. 9733 and 0.0267 for HPASa and -5b, 0. 9883 and 0.0117 for HPA-6a and -6b, 0. 5250 and 0. 4750 for HPA-15a and -15b. All the tested individuals were homozygotes for HPA-1 a,-4a,-7a - 14a and HPA -16a - 18a. There was a good fit to Hardy-Weinberg equilibrium in each group. It is concluded that this study has confirmed the ethnic and regional difference of HPA, and HPA in Nanjing Han population has its own characteristics. The highest heterozygotes are HPA-3 and HPA -15, thus more atlention to HPA effects on clinical platelet matched transfusion should be paid.%本研究旨在调查南京地区无关健康人群人类血小板抗原1 -18(HPA-1 - 18)等位基因频率,为输血患者寻找相容性血小板提供可靠依据.使用PCR-SSP方法对300例南京地区非血缘健康志愿者血液样品进行人血小板抗原1 -18(HPA-1 - 18)等位基因分型.结果表明,南京地区300例非血缘人群HPA等位基因频率分别为:HPA-2a0.9183和-2b 0.0817;HPA-3a 0.6100和-3b 0.3900;HPA-5a 0.9733和-5b 0.0267;HPA-6a0.9883和-6b0.0117;HPA-15a 0.5250和-15b 0.4750.HPA-1a,-4a,-7a - 14a和HPA-16a -18a均是纯合子.结论:HPA抗原等位基因频率存在种族和地域差异.南京地区HPA抗原等位基因频率显示具有自身特点.HPA-3和HPA-15是最常见的杂合子,因此必须关注HPA在血小板临床输血中的作用.

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

    Directory of Open Access Journals (Sweden)

    Tu CS

    2016-06-01

    Full Text Available Changsen Tu, Liang Ye, Longfei Jiang, Yuwen Wang, Yingzi Li The Eye Hospital of Wenzhou Medical University, School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, People’s Republic of China Background: Although much research has been conducted on the impact of strabismus on the quality of life (QoL of adults, the effect of this condition on teenagers has not been extensively studied. This study therefore aimed to assess the effect of strabismus on the vision-related QoL of Chinese teenagers.Methods: The Chinese version of the 25-item National Eye Institute Visual Function Questionnaire (NEI-VFQ-25 was self-administered by 1,040 teenagers with strabismus and 1,002 individuals with normal vision. All the participants were from the Chinese Han population. The independent samples t-test was used to compare QoL between teenagers with and without strabismus.Results: The majority of scores on the NEI-VFQ-25 domains were significantly different between the two groups. QoL was significantly lower in individuals with strabismus compared with teenagers with normal vision on all domains, with the exception of social functioning.Conclusion: Statistically significantly lower vision-related QoL scores were found in Chinese Han teenagers with strabismus compared with those without strabismus. Keywords: quality of life, strabismus, NEI-VFQ-25, teenager, HRQoL

  3. Association of the LRRK2 genetic polymorphisms with leprosy in Han Chinese from Southwest China.

    Science.gov (United States)

    Wang, D; Xu, L; Lv, L; Su, L-Y; Fan, Y; Zhang, D-F; Bi, R; Yu, D; Zhang, W; Li, X-A; Li, Y-Y; Yao, Y-G

    2015-03-01

    Leprosy is a chronic infectious and neurological disease that is caused by infection of Mycobacterium leprae (M. leprae). A recent genome-wide association study indicated a suggestive association of LRRK2 genetic variant rs1873613 with leprosy in Chinese population. To validate this association and further identify potential causal variants of LRRK2 with leprosy, we genotyped 13 LRRK2 variants in 548 leprosy patients and 1078 healthy individuals from Yunnan Province and (re-)analyzed 3225 Han Chinese across China. Variants rs1427267, rs3761863, rs1873613, rs732374 and rs7298930 were significantly associated with leprosy per se and/or paucibacillary leprosy (PB). Haplotype A-G-A-C-A was significantly associated with leprosy per se (P=0.018) and PB (P=0.020). Overexpression of the protective allele (Thr2397) of rs3761863 in HEK293 cells led to a significantly increased nuclear factor of activated T-cells' activity compared with allele Met2397 after lipopolysaccharides stimulation. Allele Thr2397 could attenuate 1-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyridine-induced autophagic activity in U251 cells. These data suggest that the protective effect of LRRK2 variant p.M2397T on leprosy might be mediated by increasing immune response and decreasing neurotoxicity after M. leprae loading. Our findings confirm that LRRK2 is a susceptible gene to leprosy in Han Chinese population.

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

    Science.gov (United States)

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

    2015-08-28

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

  5. 中国汉族病理性近视人群的COL9A2基因突变分析%Analysis of COL9A2 gene mutations in a Chinese Han population with pathological myopia

    Institute of Scientific and Technical Information of China (English)

    陈蓉; 龚波; 李倩; 曾光群; 郝(芳); 李宁; 石毅; 张丁丁

    2014-01-01

    目的 对COL9A2基因进行突变分析,探讨中国汉族病理性近视的分子发病机制.方法 选取400例病理性近视患者和400名正常对照,对其中200例患者和200名对照的COL9A2基因全部外显子进行Sanger测序;对检测到的变异位点,应用SNaPshot方法在另外200例患者和200名对照中进行基因分型.结果 通过Sanger测序,在200例病理性近视患者中未检出已报道的D281fs移码突变,但1例患者检测出COL9A2基因第2外显子c.143G>C杂合错义突变,另外1例患者检测出COL9A2基因第17外显子c.884G>A杂合错义突变,在正常对照中未检测到c.143G>C和c.884G>A突变.同时在外显子编码区检测到COL9A2基因rs2228564 SNP位点,其等位基因频率在患者组与正常对照组间的差异无统计学意义(P>0.05).应用SNaPshot方法对另外的200例患者和200名正常对照的这些位点进行基因分型验证,1例患者检测到COL9A2基因第2外显子c.143G>C突变,2例患者检测到COL9A2基因第17外显子c.884G>A突变,rs2228564 SNP位点的等位基因频率在两组间的差异无统计学意义(P>0.05).结论 中国汉族病理性近视与COL9A2基因D281fs移码突变可能无关,COL9A2基因第2外显子c.143G>C突变和第17外显子c.884G>A突变可能与病理性近视的发病有关.%Objective To analyze the mutation of COL9A2 gene and investigate the molecular pathogenesis of pathological myopia in a Han Chinese population.Methods Mutation in the coding region of the COL9A2 gene was screened by Sanger sequencing in 200 subjects with pathological myopia and 200 normal controls.The detected variants were genotyped by SNaPshot method in another 200 myopic cases and 200 normal controls.Results Sanger sequencing has failed to detect the reported D281fs frameshift mutation in the 200 cases.A novel variant,c.143G>C heterozygous missense mutation in exon 2,was identified in a myopic subject,and another novel variant,c.884G

  6. 偏执型精神分裂症的基因单核苷酸多态性关联分析%Association of gene polymorphisms with the susceptibility of schizophrenia in Han Chinese population

    Institute of Scientific and Technical Information of China (English)

    于洪岩; 张海三; 杨勇锋; 李文强; 张红星; 杨鸽; 吕路线

    2015-01-01

    Objective To investigate the potential association of carbonic anhydrase Ⅰ (CA1),anterior pharynx-defective 1A (APH1 A),neurodevelopment protein 1-like 1 (NDEL1) and serine racemase (SRR) gene polymorphisms with the susceptibility of schizophrenia (SZ).Methods A case-control study was performed to identify polymorphisms of the CA1,APH1A,NDEL1 and SRR gene that may confer susceptibility to SZ in the Han Chinese population.Five single nucleotide polymorphisms (SNPs) were genotyped in 516 paranoid SZ patients and 516 control subjects by real time quantitative polymerase chain reaction.The association between genotypes and positive and negative symptoms scale was also explored.Results No significant differences in genotype or allele frequencies of five SNPs were observed between schizophrenic patients and healthy controls (P =0.163,0.322,0.494,0.338,0.545;0.259,0.149,0.417,0.527,0.720;respectively).However,the frequency of CA haplotypes in SZ group was higher than control group (P =0.041).The scores of depression/anxiety,positive and excited/hostile factors in SZ patients with genotype of rs2298161 (AG),rs4523957 (CC) and rs8081273 (GG) were higher than other genotypes (P =0.008,0.001,0.000,respectively).Conclusions These data suggests that the CA1,APH1A,NDEL1 and SRR gene may not be association with susceptibility to SZ in the Han Chinese population.However,the haplotype of CA may be the susceptible factor of SZ.Rs2298161,rs4523957 and rs8081273 may be associated with some phenotypes of SZ.%目的 探讨1号染色体碳酸酐酶Ⅰ (CA1)、前咽缺陷1同族体A(APH1A)基因和17号染色体神经发育蛋白(NDEL1),丝氨酸消旋酶(SRR)基因单核甘酸多态性与精神分裂症的关联性.方法 纳入2011-2014年在新乡医学院第二附属医院住院的516例偏执型精神分裂症患者和516名通过招募,来自新乡市区及附近的健康对照志愿者,采用荧光定量聚合酶链反应方法鉴定CA1、APH1A、NDEL1和SRR基因的5个SNP位

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

    Science.gov (United States)

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

    2014-11-01

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

  8. 乌鲁木齐地区维汉两民族中冠心病患者糖蛋白Ⅲa基因多态性研究%Glycoprotein Ⅲa gene polymorphisms and risk for coronary artery disease in Chinese Urumqi Uygur and Han population

    Institute of Scientific and Technical Information of China (English)

    杨胜利; 何秉贤; 何作云; 张华; 邹阳春; 洪秀芳

    2002-01-01

    Objective To determine whether a variant(PlA2) of the membrane glycoprotein IIIa(GP IIIa) gene is associated with CAD. Furthermore,the association of the polymorphism with the classical risk factors was analyzed.Methods Blood was drawn from 105 patients (pt) and 56 controls, some of those undergoing angiography. A 266 base pair fragment of the GP IIIa gene was amplified by the polymerase chain reaction(PCR) and digested with the MspI restriction enzyme. Genotypes were identified after electrophoresis of digestion products in 2.0% agarose gel. Results Of the 105 patients(pt), 65 had acute (n=19) or previous MI,20 had unstable angina (UAP), and 20 had stable angina(SAP).The PlA2 allele was carried by 0% of CAD pt versus 1.8% of Non CAD control subjects in Chinese Urumqi Uygur and Han population. The PlA2 allele was carried by 0% of CAD pt versus 7.7% of Non CAD control subjects in Uygur population.The PlA2 allele was found in 0% of CAD pt versus 0% of Non CAD control subjects in Han population.Conclusions The PlA2 variant of the gene GP IIIa is not associated with CAD in Uygur population and Han population in Urumqi city of Xinjiang Uygur Autonomous Region.

  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. The polymorphism of HPA-1 ~6、15 in Chinese Han population%2458名中国汉族人类HPA-1~6、15基因多态性的研究

    Institute of Scientific and Technical Information of China (English)

    周丹; 张印则; 庄乃保; 孔令魁

    2012-01-01

    Objective To analyze human platelet antigens (HPA)1-6,15 polymorphism,and study the allele frequencies in the North Chinese Han and South Chinese Han. Methods The genotypes of HPA1 -6,15 systems were performed by FLOW-SSO for 2 458 samples. Results The gene frequencies were 0.991 7,0.008 3,0.955 2,0.044 8,0.558 6,0.441 4,0.998 0,0.0020,0.986 2,0.013 8,0.985 6,0.0144,0.545 2,0.454 8 for HPA-la,HPA-lb,HPA-2a,HPA-2b,HPA-3a,HPA-3b,HPA-4a,HFA-4b,HPA-5a,HPA-5b,HPA-6a,HPA-6b,HPA-15a,HPA-15b,respectively.The phenotype frequencies of HPAl-6,15 in the South Chinese Han was compared to the frequencies in the north Chinese Han. There is significant deviation from Hardy-Weinbery equilibrium within HPA-l ,3 in the south Chinese Han and north Chinese Han(χ2 = 15. 032 0、5.418 8 ,P <0.05). There was a good fit to Hardy-Weinbery equilibrium within each group. Conclusion The highest heterozygotes are HPA-3 and HPA-15,which indicate that the original difference of HPA-l and HPA-3 in South and North of China. In order to provide HPA-matched platelet transfusion in alloimmune thromboeytopenic patients,the building of China HPA-typed plateletpheresis donor registry is very useful%目的 分析中国汉族人群HPA-1~6、15系统的基因多态性,研究中国南、北方汉族人群HPA-1~6、15的基因分布.方法 采用Luminex结合序列特异性寡核苷酸探针(flow-sequence specific oligonucleotide probes,FLOW-SSO)方法对2458名深圳市机采血小板无偿捐献者(其中南方人群1 554人,北方人群904人)进行HPA-1~6,15系统基因分型.采用聚合酶链反应-序列特异性引物(PCR-sequence specific primer,PCR-SSP)方法对有疑问的标本及罕见抗原(如HPA-1b/1b、2b/2b、5b/5b等)做进一步确认.结果 中国汉族人群中HPA-1 ~6、15基因频率分别为,HPA-1a0.991 7,HPA-1b 0.008 3,HPA-2a 0.955 2,HPA-2b 0.044 8,HPA-3a0.558 6,HPA-3b 0.441 4,HPA-4a0.9980,HPA-4b0.0020,HPA-5a0.986 2,HPA-5b0.013 8,HPA-6a0.985 6,HPA-6b0.0144,HPA-15a0.545 2,HPA

  11. LBP and CD14 polymorphisms correlate with increased colorectal carcinoma risk in Han Chinese

    Institute of Scientific and Technical Information of China (English)

    Rui Chen; Fu-Kang Luo; Ya-Li Wang; Jin-Liang Tang; You-Sheng Liu

    2011-01-01

    AIM: To explore the associations of polymorphisms of lipopolysaccharide binding protein (LBP), cluster of differentiation 14 (CD14), toll-like receptor 4 (TLR-4), interleukin-6 (IL-6) and tumor necrosis factor α (TNF-α) with the colorectal carcinoma (CRC) risk in Han Chinese. METHODS: Polymorphisms of LBP (rs1739654, rs2232596, rs2232618), CD14 (rs77083413, rs4914), TLR-4 (rs5030719), IL-6 (rs13306435) and TNF-α (rs35131721) were genotyped in 479 cases of sporadic colorectal carcinoma and 486 healthy controls of Han Chinese in a case-control study. Single-nucleotide polymorphisms (SNPs) between cases and controls were analyzed by unconditional logistic regression. RESULTS: GA and GG genotypes of LBP rs2232596 were associated with a significantly increased risk of CRC [odds ratio (OR) = 1.51, 95% confidence interval (CI) 1.15-1.99, P = 0.003; OR = 2.49, 95% CI 1.16-5.38, P = 0.016, respectively]. A similar association was also observed for the CG genotype of CD14 rs4914 (OR= 1.69, 95% CI 1.20-2.36, P = 0.002). In addition, a combination of polymorphisms in LBP rs2232596 and CD14 rs4914 led to a 3.4-fold increased risk of CRC (OR = 3.44,95% CI 1.94-6.10, P = 0.000).CONCLUSION: This study highlights the LBP rs2232596 and CD14 rs4914 polymorphisms as biomarkers for elevated CRC susceptibility in the Chinese Han population.

  12. 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.

  13. Analysis of the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal epilepsy

    Institute of Scientific and Technical Information of China (English)

    Zhi-Hong Chen; Chun Wang; Lin-Gan Wang; Mu-Qing Zhuo; Zhi-Hong Tang; Qiong-Xiang Zhai; Qian Chen; Yu-Xiong Guo; Yu-Xin Zhang

    2015-01-01

    Objective: To detect the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal lobe epilepsy (NFLE). Methods: Blood samples were collected from 215 Southern Han Chinese patients with NFLE and 200 healthy Southern Han Chinese control subjects. Genomic DNA was extracted, and CHRNA7 whole genome exons were amplified by the polymerase chain reaction and subjected to Sanger sequencing. Results:No CHRNA7 gene mutation was detected in all of the NFLE patients. However, five single nucleotide polymorphisms (SNPs) in sporadic cases were found, located in exons 5, 6, and 7 of the CHRNA7 gene. Among them, c.690G>A and c.698A>G are known SNPs, while c.370G>A, c.654C>T, and c.497-498delTG were newly discovered SNPs. These SNPs were also found in some of the healthy controls. Conclusions: No CHRNA7 gene mutation was identified in Southern Han Chinese patients with NFLE. The CHRNA7 gene is probably not responsible for NFLE in this population.

  14. Polymorphism analysis of 15 STR loci in a large sample of Guangdong (Southern China) Han population.

    Science.gov (United States)

    Chen, Ling; Lu, Huijie; Qiu, Pingming; Yang, Xingyi; Liu, Chao

    2015-11-01

    AmpFℓSTR Sinofiler PCR Amplification Kit is specially developed for Chinese forensic laboratories, but there are little population-genetic data about this kit for Southern China. This kit contains 15 STR loci: D8S1179, D21S11, D7S820, CSF1PO, D3S1358, D13S317, D16S539, D2S1338, D19S433, vWA, D18S51, D6S1043, D12S391, D5S818 and FGA. We have conducted genotyping experiments on the 15 STR loci in 5234 unrelated individuals from Guangdong (Southern China). We observed a total of 243 alleles in the group with the allelic frequency values ranging from less than 0.0001 to 0.3686. Our statistic analysis indicates that the 15 STR loci conform to the Hardy-Weinberg's equilibrium (p>0.05). The highest polymorphism was found at D6S1043 locus and the lowest was found at D3S1358. The combined power of discrimination reached 0.99999999999999999977431 and the combined probability of paternity exclusion reached 0.999999721 for 15 STR loci. Guangdong Han population had significant differences compared with Shaanxi, Shandong and Henan province of Northern China. A Neighbor-joining tree indicates that the Guangdong Han has a close genetic relationship with the Yunnan population. Significant differences were found between Guangdong Han population and other reported populations (Japanese, Philippine, African American, Caucasian, Hispanic and Western Romanian) at 2-11 STR loci. The results may provide useful information for forensic sciences and population genetics studies. The present findings indicate that all the 15 STR loci are highly genetically polymorphic in the Han population of Guangdong.

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

    Directory of Open Access Journals (Sweden)

    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.

  16. Age-dependent association of KIBRA gene polymorphism with Alzheimer's disease in Han Chinese.

    Science.gov (United States)

    Wang, Hui-Fu; Tan, Lan; Yu, Jin-Tai; Ma, Xiao-Ying; Liu, Qiu-Yan; Wang, Wei

    2013-12-01

    Genetic factors play an important role in the Alzheimer's disease (AD) development and memory impairment is a cardinal clinical feature of AD. Kidney and brain expressed protein (KIBRA), owing to its connection with human episodic memory, became an interesting candidate gene for AD. Recently, KIBRA (rs17070145) was reported to be associated with AD in the genetic and functional levels in Caucasian and African-American, and the association might be different across age groups. To investigate the possibility of age-dependent association of KIBRA with AD in Asian, we conducted an independent replication study in a cohort of 1,586 subjects from Han Chinese (including 790 LOAD patients and 796 healthy controls). The results revealed no significant differences in the distributions of genotype or allele between LOAD and control groups in the total sample. However, when these data were stratified by their age, we observed a significant difference in the genotypes and alleles frequencies (genotype: p = 0.004, allele: p = 0.035) in the young subgroup. Moreover, the association was further demonstrated in logistic regression analysis (rs17070145: p = 0.045, OR = 0.428). Our data suggested that KIBRA might associate with younger AD patients (≤74 years) in a Northern Han Chinese population.

  17. 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.

  18. Risk Factors, Coronary Severity, Outcome and ABO Blood Group: A Large Chinese Han Cohort Study.

    Science.gov (United States)

    Zhang, Yan; Li, Sha; Zhu, Cheng-Gang; Guo, Yuan-Lin; Wu, Na-Qiong; Xu, Rui-Xia; Dong, Qian; Liu, Geng; Li, Jian-Jun

    2015-10-01

    ABO blood type locus has been reported to have ethnic difference and to be a pivotal genetic determinant of cardiovascular risk, whereas few prospective data regarding the impact on cardiovascular outcomes are available in a large cohort of patients with angiography-proven coronary artery disease, especially from the Chinese population. The objective of this study was to assess the prognostic role of blood type in future cardiovascular events (CVEs) in Chinese Han patients undergoing coronary angiography.The population of this prospective cohort study consisted of 3823 eligible patients, and followed annually to capture all CVEs. Baseline characteristics and ABO blood type were obtained. Cox proportional hazards models were used to evaluate the risk of ABO blood type on CVEs.New CVEs occurred in 348 patients [263 (10.3%) non-O and 85 (7.8%) O] during a median period of 24.6 months follow-up. Significantly, non-O blood group was related to the presence and severity of coronary atherosclerosis and several risk factors including inflammatory markers. The log-rank test revealed that there was a significant difference between non-O and O blood groups in event-free survival analysis (P = 0.026). In particular, the Cox proportional hazards models revealed that non-O blood type was associated with increased CVEs risk [hazard ratio (95% confidence interval) 1.320 (1.033-1.685)], even after adjusting for potential confounders [adjusted hazard ratio (95% confidence interval) non-O: 1.289 (1.003-1.656); A: 1.083 (0.797-1.472); B: 1.481 (1.122-1.955); AB: 1.249 (0.852-1.831), respectively].Non-O blood type is associated with future CVEs in Chinese Han patients undergoing coronary angiography.

  19. Modern use of Chinese herbal formulae from Shang-Han Lun

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    CHEN Fang-pey; CHEN Fun-jou; JONG Maw-shiou; TSAI Hui-lin; WANG Jen-ren; HWANG Shinn-jang

    2009-01-01

    Background The Chinese medical archive,Shang-Han Lun,is said to be written by ZHANG Zhong-jing (150-219 A.D.).This great influential work introduced the specific symptoms of six-channel disorders (Tai-Yang,Yang-Ming,Shao-Yang,Tai-Yin,Shao-Yin,and Jue-Yin) and their corresponding treatments,the combined syndromes,deterioration due to malpractice,and the concept of six-channel transitions.The concept of Shang-Han Lun is widely accepted by Chinese herbal doctors.However,no clinical data about Shang-Han symptoms are described in oriental or western medical reports.Methods The clinical prescription data of traditional Chinese medicine visits were extracted under the National Health Insurance in Taiwan.The application rate of 42 Shang-Han formulae in clinical practice was analyzed in detail with the software SPSS.Results Between 1999 and 2002,the prescription rate of Shang-Han formula was only 5.22% among a total of 528 889 576 Chinese herbal formula prescriptions.The most frequently used formula was Tai-Yang formulae (71.31%),followed by Shao-Yang formulae (17.49%) and the most commonly prescribed individual Shang-Han formulae were Ge-Gen Tang (16.11%),Shao-Yao-Gan-Cao Tang (12.97%),Xiao-Qing-Long Tang (11.79%),Ban-Xia Xie-Xin Tang (10.24%),and Xiao-Chai-Hu Tang (9.11%),which comprised 60.22% of the utilization rate of total Shang-Han formulae.Conclusions From the prescription patterns of Shang-Han formulae,there was no evidence of transitions among the six channels.Despite the fundamental role of Shang-Han Lun in traditional Chinese medicine,prescription of Shang-Han formulae was limited in clinical practice.

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

    Science.gov (United States)

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

    2017-01-01

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

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

    Science.gov (United States)

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

    2017-02-16

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

  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. Retraction RETRACTION of "Tumor necrosis factor alpha gene -308G>A polymorphism association with the risk of esophageal cancer in a Han Chinese population" by H. Zhao, H.W. Zhang, T. Zhang and X.M. Gu - Genet. Mol. Res. 15 (2): gmr.15025866 DOI: http://dx.doi.org/10.4238/gmr.15025866.

    Science.gov (United States)

    Zhao, H; Zhang, H W; Zhang, T; Gu, X M

    2016-10-07

    The retracted article is: Zhao H, Zhang HW, Zhang T and Gu XM (2016). Tumor necrosis factor alpha gene -308G>A polymorphism association with the risk of esophageal cancer in a Han Chinese population. Genet. Mol. Res. 15: gmr.15025866. Two major concerns were found in this article. Firstly, it was found to be substantially equal to the article "Tumor necrosis factor-alpha gene -308G > A polymorphism alters the risk of hepatocellular carcinoma in a Han Chinese population" published in the Diagnostic Pathology Diagnostic Pathology (2014) 9: 199, by Feng et al.; licensee BioMed Central. 2014 - DOI: 10.1186/s13000-014-0199-3. Secondly, the authors do not discuss limitations of their approaches in the discussion. The discussion is largely an elaboration of the literature in the introduction part. However, even in that context, the discussion does not appropriately review the literature and there are frequent references to conclusions that are not supported by the cited literature. The GMR editorial staff was alerted and after a thorough investigation, there is strong reason to believe that the peer review process was failure. Also, after review and contacting the authors, the editors of Genetics and Molecular Research decided to retract this article in accordance with the recommendations of the Committee on Publication Ethics (COPE). The authors and their institutions were advised of this serious breach of ethics.

  4. [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.

  5. Genetic polymorphisms of four STR loci on chromosome X and their forensic applications in a Chinese Han population%X染色体四个STR基因座的遗传多态性及法医学意义

    Institute of Scientific and Technical Information of China (English)

    石美森; 邓建强; 云利兵; 颜静; 侯一平

    2005-01-01

    目的建立X染色体短串联重复序列DXS7133、GATA198A10、DXS9896、DXS6797基因座的复合扩增系统,调查成都汉族人群的遗传多态性并探讨其法医学应用价值. 方法应用PCR和非变性聚丙烯酰胺凝胶电泳分型技术,并检验各基因座女性基因型频率分布是否符合Hardy-Weinberg平衡,计算法医学常用各种概率.结果 DXS7133、GATA198A10、DXS9896、DXS6797基因座在成都地区汉族群体中(男100,女120)分别发现6、6、11、8个等位基因,女性个人识别几率分别达0.7962、0.8021、0.9675 和 0.9444.χ2检验表明各基因座女性的基因型频率分布符合Hardy-Weinberg平衡.32个亲子鉴定案例调查表明这4个基因座符合X染色体伴性遗传方式,未发现突变.结论 DXS7133、GATA198A10、DXS9896、DXS6797基因座在成都汉族群体中具有较高的遗传多态性,适用于个人识别和女孩的亲权鉴定.%Objective To add DXS7133, GATA198A10, DXS9896 and DXS6797 to the panel of forensically validated X chromosome markers, and apply the multiplex amplification system to a population study and forensic analysis on the Hans of Chengdu. Methods The PCR products were detected by the polyacrylamide gel electrophoresis and silver staining method. Hardy-Weinberg equilibrium of females was tested and every forensically interested value was calculated. Results Sequencing revealed that their common sequence motifs were tetranucleotide repeats. Population genetic data were obtained by analyzing 120 unrelated females and 100 males from Chengdu Han ethnic group. In this population, DXS7133, GATA198A10, DXS9896 and DXS6797 exhibited 6, 6, 11, 8 distinguishable alleles respectively. Chi-square test demonstrated that genotype frequencies in females did not depart from Hardy-Weinberg equilibrium. Power of discrimination for female samples for the four loci were 0.7962, 0.8021, 0.9675, and 0.9444. The parentage testing in 32 cases revealed a typical X-linked inheritance and

  6. Two common SNPs in pri-miR-125a alter the mature miRNA expression and associate with recurrent pregnancy loss in a Han-Chinese population.

    Science.gov (United States)

    Hu, Yi; Liu, Chun-Mei; Qi, Lu; He, Tian-Zhu; Shi-Guo, Liu; Hao, Chan-Juan; Cui, Yi; Zhang, Ning; Xia, Hong-Fei; Ma, Xu

    2011-01-01

    Although there are plenty of evidence that single-nucleotide polymorphisms (SNPs) that fall within coding sequences of genes are involved in recurrent pregnancy loss (RPL), it is still unknown whether the polymorphisms in microRNAs (miRNAs) are related with RPL. In this study, we established this kind of association by confirming significant differences in genotype distribution of rs41275794 (P= 0.0005) and rs12976445 (P= 0.001) within the pri-miR-125a in 217 Han Chinese patients of RPL compared with 431 controls. Based on this observation, two-locus haplotypes were constructed and the A-T haplotype was found to be associated with an increased risk of RPL (OR=2.84, 95%C.I. 1.98-4.07, P=0.0000000057). Further analysis showed that the levels of pre- and mature- miR-125a were down-regulated in the cells transfected with the A-T haplotype, which was consistent with in vivo detection that the level of mature miR-125a was lower in 30 pregnant women with A-T haplotype than that with G-C haplotype. During in vitro RNA processing assays, we found a similar decrease in the amount of pre-miR-125a and decline in binding capacity of nuclear factors to pri-miR-125a with A-T haplotype. More importantly, the reduction in miR-125a, as a consequence of A-T haplotype, further led to less efficient inhibition of target genes, LIFR and ERBB2, which play important roles in the embryo implantation and decidualization. Thus, our data collectively suggest that two common polymorphisms in pre-miR-125a might contribute to the genetic predisposition to RPL by disrupting the production of miR-125a, which consequently interfered in the expression and function of target genes of miR-125a.

  7. Polymorphism analysis of D1S80 locus in Chinese Han population in Southern Sichuan%川南地区汉族人群D1S80基因座多态性分析

    Institute of Scientific and Technical Information of China (English)

    张天丹; 杨曼曼; 杨璐全; 邹永林; 傅俊江

    2014-01-01

    目的:了解川南地区汉族人群D1S80位点群体遗传多态性。方法采用PCR结合聚丙烯酰胺PAGE电泳及高灵敏度银染技术,即Amp-FLP方法对川南地区120名汉族无血缘关系个体D1S80位点进行多态性分析。结果在所调查的120名无关个体样本中,观察到D1S80基因座有18个等位基因,基因频率分布在0.004166667~0.1958333333之间,杂合度为0.7869,个体识别力为0.87,非父排除率为0.8152,其基因型频率分布符合Hardy-Weinberg平衡法则。结论D1S80基因座的PCR分型具有较好的准确性和灵敏度,为法医学个体识别和亲权鉴定、遗传病基因链锁分析等的研究及应用提供了川南地区有用的遗传信息。%Objective To study the population genetic polymorphism of D1S80 locus in Han population in Southern Sichuan. Methods PCR amplification, electrophoresis of PAGE and high sensitive silver staining method, namely Amp-FLP, were performed for D1S80 loci by polymorphic analysis in 120 unrelated Han individuals from Southern Sichuan. Results From survey of 120 unrelated individuals for D1S80 loci, 18 alleles are observed. Gene frequency is located between 0.004166667 and 0.1958333333,heterozygosity is 0.7869, discrimination power is 0.87,exclusion power is 0.8152,which is in accordance with Hardy-Weinberg balance rule for the genotype distribution. Conclusion D1S80 gene loci PCR typing has good accuracy and sensitivity. It provides useful genetic information for forensic science research on individual identification and paternity test,genetic disease gene linkage analysis for D1S80 gene loci from Southern Sichuan.

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

    Directory of Open Access Journals (Sweden)

    Ma Z

    2016-08-01

    Full Text Available Zhao Ma, Yong Yang,* JiSheng Lin, XiaoDong Zhang, Qian Meng, BingQiang Wang, Qi Fei* Department of Orthopedics, Beijing Friendship Hospital, Capital Medical University, Beijing, People’s Republic of China *These authors contributed equally to this work Purpose: To develop a simple new clinical screening tool to identify primary osteoporosis by dual-energy X-ray absorptiometry (DXA in postmenopausal women and to compare its validity with the Osteoporosis Self-Assessment Tool for Asians (OSTA in a Han Chinese population.Methods: A cross-sectional study was conducted, enrolling 1,721 community-dwelling postmenopausal Han Chinese women. All the subjects completed a structured questionnaire and had their bone mineral density measured using DXA. Using logistic regression analysis, we assessed the ability of numerous potential risk factors examined in the questionnaire to identify women with osteoporosis. Based on this analysis, we build a new predictive model, the Beijing Friendship Hospital Osteoporosis Self-Assessment Tool (BFH-OST. Receiver operating characteristic curves were generated to compare the validity of the new model and OSTA in identifying postmenopausal women at increased risk of primary osteoporosis as defined according to the World Health Organization criteria.Results: At screening, it was found that of the 1,721 subjects with DXA, 22.66% had osteoporosis and a further 47.36% had osteopenia. Of the items screened in the questionnaire, it was found that age, weight, height, body mass index, personal history of fracture after the age of 45 years, history of fragility fracture in either parent, current smoking, and consumption of three of more alcoholic drinks per day were all predictive of osteoporosis. However, age at menarche and menopause, years since menopause, and number of pregnancies and live births were irrelevant in this study. The logistic regression analysis and item reduction yielded a final tool (BFH-OST based on age

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

    Science.gov (United States)

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

    2016-01-01

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

  10. 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

  11. Single nucleotide polymorphisms of the SCN5A gene in Han Chinese and their relation with Brugada syndrome

    Institute of Scientific and Technical Information of China (English)

    陈君柱; 谢旭东; 王兴祥; 陶明; 尚云鹏; 郭晓钢

    2004-01-01

    Background Mutations in the cardiac sodium channel gene (SCN5A) may lead to a broad spectrum of familial arrhythmias, including long QT syndrome (LQTS), idiopathic ventricular fibrillation (IVF), and isolated cardiac conduction diseases. Recent studies have shown that polymorphisms in the SCN5A gene also play an important role in the manifestation of disorders involving cardiac excitability. In this study, we investigated the polymorphisms of the SCN5A gene in Han Chinese and its relation to Brugada syndrome (BS).Methods Genomic DNA was isolated from 120 unrelated healthy volunteers and 48 unrelated Brugada syndrome patients by means of standard procedures. All exons including the putative splicing sites of the SCN5A gene were amplified by PCR and sequenced directly or after subcloning using an ABI Prism 377 DNA sequencer. Results A total of 5 single nucleotide polymorphisms (SNPs) were identified in the Han Chinese population, including 3 novel ones: G87A(A29A), 4245+82A>G, and G6174A. The allele frequencies of each SNP in the Han Chinese population were as follows: G87A (A29A) 27.5%, A1673G (H558R) 10.4%, 4245+82A>G 32.8%, C5457T (D1819D) 41.3%, and G6174A 44.9%. S1102Y and 10 other SNPs identified in other ethnic populations were not detected in this study. There was no significant difference in the allele frequency of A1673G (H558R) between different ethnic populations (all P>0.5). On the other hand, the allele frequency of C5457T (D1819D) among Han Chinese was similar to its frequency among Japanese (P>0.5), but higher than that among Americans (P<0.005). The allele G1673 (R558) was over-represented in BS patients compared to controls (P<0.005), but there was no significant difference in genotype frequencies at this locus. There were also no differences in either the allele or genotype frequencies of the 4 other identified SNPs when comparing BS patients with healthy controls. Conclusions The distribution of SCN5A SNPs may vary between different ethnicities

  12. 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.

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

    Science.gov (United States)

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

    2017-01-01

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

  14. 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.

  15. 甘露糖结合凝集素与人类免疫缺陷病毒感染的关联性研究%Association of mannose-binding lectin and HIV-1 infection among the Han Chinese population

    Institute of Scientific and Technical Information of China (English)

    盛艾娟; 吴昊; 兰洁; 路甲鹏; 王友信; 宋曼殳; 武晶晶; 刘利新; 王嵬

    2011-01-01

    Objective Mannose-binding lectin (MBL) is a key molecule of the innate immune system and a component to bind the carbohydrates of a variety of microorganisms, resulting in complement activation and opsonophagocytosis against various pathogens. The study investigated the role of MBL in innate immune responses against HIV-1 infection among the Han Chinese. Methods We randomly selected 91 HIV-1 infected patients from Beijing YouAn Hospital and 91 HIV-1 non-infected healthy individuals from Beijing TongRen Hospital Health Center. Six MBL2 genotypes were analyzed by pyrosequencing for polymorphisms. The method of ELISA was applied for quantitative measurement of serum MBL concentration and MBL complex activity. The CD4+ T-cell counts were determined by flow cytometry. The plasma viral loads were detected by bDNA method among 91 HIV-1 infected patients. Results The frequency of allele B was higher in HIV-1 infected patients (0.18) than in healthy controls (0.14). The ratios of median serum MBL concentrations and median MBL complex activities were 0.44:1 and 0.61:1 for HIV-1 infected patients to controls, respectively. The HIV-1 infected patients with A/B, A/C or B/B genotypes in exon 1 had higher viral load, lower MBL concentration, lower MBL complex activity and lower CD4+ T-cell counts than patients with A/A genotype. Conclusions The results suggested the association of MBL with HIV-1 infection among the Han Chinese. The individuals with B variant, low serum MBL concentration and low MBL complex activity might have an increased chance of HIV-1 infection.%目的 探讨甘露糖结合凝集素(mannose-binding lectin,MBL)多态性与中国北方汉族人群HIV-1感染的关联.方法 采用病例对照研究,以91例HIV感染者(北京佑安医院)和91例健康人(北京同仁医院)作为研究对象,用焦磷酸测序技术(pyrosequencing)检测病例组和对照组MBL Exon Ⅰ第52、54、57三个密码子的点突变和启动子+4、-221、-550三个位点的多态

  16. Neuregulin 1基因多态性与中国汉族精神分裂症关联分析%Association analysis of neuregulin 1 gene polymorphism with schizophrenia in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    张红星; 李文强; 张燕; 赵靖平; 吕路线; 杨鸽

    2009-01-01

    Objective To investigate the association of the Neuregulin 1(NRG1)gene polymorphism with schizophrenia by analyzing allele transmission in schizophrenic parent-proband trios.Methods Quantitative real-time PCR was used to check the genotypes of four SNPs-rs221533(C/T),rs7820838(C/T),433EL006(A/G)and rs3924999(C/T),located at the 5'terminus of the NRG1 gene,in 258 Chinese Han schizophrenic parent-proband trios.The transmission disequilibrium test(TDT)program(Oenehunter software 2.0)was used to evaluate the association of the NRG1 gene with schizophrenia.ResultsFor all the subjects,the genotypes of the 4 SNPs were in Hardy-Weinberg equilibrium.In all the 258 parentproband trios.there were significant transmission disequilibrium in allelic transmission of C,A,T from rs221533,433E1006,rs3924999 loci respectively(rs221533:X2=27.45,P=0.000;433E1006:X2=56.08,P=0.000;rs3924999:X2=10.53,P=0.001).Haplotype was analyzed at frequency exceeding 1%.In three-marker-haplotype,C/C/G and C/C/A(marker order:rs221533,rs7820838,433E1006)transmitted predominantly(C/C/G:X2=5.26,P=45.08;C/C/A:.)X2=0.026,P=0.000).In four-markerhaplotype(marker order:rs221533,rs7820838,433E1006,rs3924999),C/C/G/T,C/C/A/C and C/C/A/T showed transmission disequilibrium(C/C/G/T:X2=10.71,P=0.001;C/C/A/C:X2=8.83,P=0.006,C/C/A/T:X2=27.00,P:0.000).In the positive subtype of parent-proband trios,C/T/G/C hapoltype transmission was not observed.Conclusion The NRG1 gene polymorphism is significantly associated with schizophrenia in Chinese Han,especially in the positive subtype of schizophrenia.%目的 探讨Neuregulin 1(NRG1)基因多态性与精神分裂症的关联.方法 在258个中国汉族精神分裂症核心家系(患者及其亲生父母)中,应用实时定量PCR技术检测位于NRGl基因5'端的4个单核苷酸多态(single nucleotide polymorphism,SNP)位点:rs221533(C/T)、rs7820838(C/T)、433E1006 (A/G)和rs3924999(C/T),进行基因分型,应用传递不平衡检测(transmission disequilibrium test,TDT)

  17. Genetic variability and phylogenetic analysis of Han population from Guanzhong region of China based on 21 non-CODIS STR loci.

    Science.gov (United States)

    Zhang, Yu-Dang; Tang, Xiao-Li; Meng, Hao-Tian; Wang, Hong-Dan; Jin, Rui; Yang, Chun-Hua; Yan, Jiang-Wei; Yang, Guang; Liu, Wen-Juan; Shen, Chun-Mei; Zhu, Bo-Feng

    2015-01-01

    In the present study, we presented the population genetic data and their forensic parameters of 21 non-CODIS autosomal STR loci in Chinese Guanzhong Han population. A total of 166 alleles were observed with corresponding allelic frequencies ranging from 0.0018 to 0.5564. No STR locus was observed to deviate from the Hardy-Weinberg equilibrium and linkage disequilibriums after applying Bonferroni correction. The cumulative power of discrimination and probability of exclusion of all the 21 STR loci were 0.99999999999999999993814 and 0.999998184, respectively. The results of genetic distances, phylogenetic trees and principal component analysis revealed that the Guanzhong Han population had a closer relationship with Ningxia Han, Tujia and Bai groups than other populations tested. In summary, these 21 STR loci showed a high level of genetic polymorphisms for the Guanzhong Han population and could be used for forensic applications and the studies of population genetics.

  18. Apolipoprotein E Gene Polymorphisms and Risk for Coronary Artery Disease in Chinese Xinjiang Uygur and Han Population%新疆维汉两民族冠心病患者载脂蛋白E基因的多态性

    Institute of Scientific and Technical Information of China (English)

    杨胜利; 何秉贤; 何作云; 张华; 洪秀芳; 邹阳春

    2003-01-01

    tobacco consumption were recorded. The plasma levels of total cholesterol, HDL cholesterol, apolipoproteinlipoprotein AI and B and triglycerides were determined. DNA was obtained from the 124 patients and from 70 controls. In order to determine the apolipoproteinlipoprotein E genotypes, DNA was PCR amplified and digested with HhaI.Results The frequency of the ε2, ε3 and ε4 are 0.155±0.300, 0.648±0.342, and 0.197±0.246 in Uygur population and 0.081±0.196, 0.772±0.315, and 0.146±0.237 in Han population respectively. The frequency of the ε2, ε3 and ε4 are 0.060±0.198, 0.758±0.302, and 0.182±0.250 in the patient group and 0.193±0.286, 0.671±0.370, and 0.136±0.224 in the control group respectively. ε2 frequency of Uygur' patient and control are 0.050±0.221 and 0.290±0.336. Serum LDL cholesterol, TC and TG values tended to decrease from the apolipoproteinlipoprotein E-4 phenotypes to apolipoprotein E-2 phenotypes. Deletion polymorphism of ε2 compared with common risk factors for CAD, its risk ratio (RR) is 4.38. Conclusion These studies showed that the apolipoprotein E phenotype distribution in Uygur population differed significantly from Han population in Xinjiang. CAD patients have significantly lower ε2 allele than controls especially in Uygur population. Deletion of ε2 may be a risk factor for CAD.(Chin J Arterioscler, 2003, 11(5): 0429-0434)

  19. Genome-wide analysis of single nucleotide polymorphisms in patients with atrophic age-related macular degeneration in oldest old Han Chinese.

    Science.gov (United States)

    Zhou, T Q; Guan, H J; Hu, J Y

    2015-12-21

    The aim of this study was to identify disease-associated loci in oldest old Han Chinese with atrophic age-related macular degeneration (AMD). This genome-wide association study (GWAS) only included oldest old (≥95 years old) subjects in Rugao County, China. Thirty atrophic AMD patients and 47 age-matched non-AMD controls were enrolled. The study subjects underwent a complete ophthalmic examination. Genomic DNA was extracted from peripheral blood samples. Single nucleotide polymorphisms (SNPs) were scanned by Genome-Wide Human Mapping SNP 6.0 Arrays and GeneChip Scanner 3000 7G. The results were read and analyzed by the Affymetrix Genotyping Console software. We filtered out the SNPs with a no-call rate ≥10%, MAF P old Han Chinese population. This finding may lead to new strategies for screening of atrophic AMD for Han Chinese.

  20. Association of Polymorphisms in Mitofusin-2 Gene with Type 2 Diabetes in Han Chinese

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    Pengtao Li

    2012-01-01

    Full Text Available MFN2 and ESRRA are candidate genes involved in the pathogenesis of T2D. Five tag-SNPs in MFN2 gene and three in ESRRA gene were selected and genotyped with TaqMan or PCR-RFLP method in stage 1 populations (555 patients with T2D and 649 control subjects and stage 2 populations (546 patients with T2D versus 419 control subjects in Han Chinese. And combining our published data, we estimated the interactions between genetic variants in the MFN2, ESRRA, and PGC-1α genes on the T2D risk using MDR. rs873458 (G>A and rs2878677 (C>T in MFN2 gene were significantly associated with T2D (P=0.005 and 0.01 in stage 1 populations, and the association of other SNPs with T2D was not found. In stage 2 populations, we further confirmed the association between rs2878677 and T2D (P=0.01. Combining the two stage populations, the data supported more significant effect of rs873458 and rs2878677 on T2D risk (P=0.003 and 0.0001. A-C-G-T-C and G-T-C-T-C in MFN2 had significant association with T2D (P=0.007 and 0.009. The present study also provided the evidence that MFN2 had interactions with PGC-1α (P<0.0001 or ESRRA (P<0.0001. This study suggested a role of MFN2 polymorphism in the risk of T2D; however, further studies are needed.

  1. Association of polymorphisms in mitofusin-2 gene with type 2 diabetes in Han Chinese.

    Science.gov (United States)

    Li, Pengtao; Zhu, Shuying; Wu, Xiaopan; Zhu, Xilin; Li, Jingyun; Pan, Liping; Xin, Zhenhui; Niu, Fenghe; Wu, Jia; Liu, Ying

    2012-01-01

    MFN2 and ESRRA are candidate genes involved in the pathogenesis of T2D. Five tag-SNPs in MFN2 gene and three in ESRRA gene were selected and genotyped with TaqMan or PCR-RFLP method in stage 1 populations (555 patients with T2D and 649 control subjects) and stage 2 populations (546 patients with T2D versus 419 control subjects) in Han Chinese. And combining our published data, we estimated the interactions between genetic variants in the MFN2, ESRRA, and PGC-1α genes on the T2D risk using MDR. rs873458 (G > A) and rs2878677 (C > T) in MFN2 gene were significantly associated with T2D (P = 0.005 and 0.01) in stage 1 populations, and the association of other SNPs with T2D was not found. In stage 2 populations, we further confirmed the association between rs2878677 and T2D (P = 0.01). Combining the two stage populations, the data supported more significant effect of rs873458 and rs2878677 on T2D risk (P = 0.003 and 0.0001). A-C-G-T-C and G-T-C-T-C in MFN2 had significant association with T2D (P = 0.007 and 0.009). The present study also provided the evidence that MFN2 had interactions with PGC-1α (P ESRRA (P < 0.0001). This study suggested a role of MFN2 polymorphism in the risk of T2D; however, further studies are needed.

  2. 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.

  3. Molecular basis of weak D and DEL in Han population in Anhui Province, China

    Institute of Scientific and Technical Information of China (English)

    CHEN Qing; LI Ming; LI Min; LU Xue-song; L(U) Rong; SUN Jun; LIU Zhong

    2012-01-01

    Background Rh blood group system is the most complex and immunogenetic blood group system.Prevalent RHD alleles varied in different populations.The purpose of this study is to determine the molecular basis of weak D and DEL phenotype in Anhui Chinese Han population.Methods The D antigen was determined with IgM monoclonal anti-D conformed to the guidelines for donor testing in China.Weak D samples were identified by an indirect antiglobulin test.DEL phenotype was determined by adsorption and elution test.All the RHD 10 exons were screened by PCR with sequence-specific priming or sequenced for the first-time donors who typed weak D,DEL or D negative by serologic test.Results Of all the 30 799 blood donors,155 blood samples were found D negative with IgM anti-D; 34 blood samples were found D positive by indirect antiglobulin test or absorption elution test.RHD alleles were identified by nucleotide sequencing.Total 4 RHD alleles were found including two new.One hundred and twenty of 155 (77.4%) of the serologically D negative samples lacked the RHD gene.One D negative was RHD(615de12).Thirty-two of 155 (20.6%)carried RHD(K409K) among them one carrying 1227G>A and 845G>A.Two of 155 (1.3%) was weak D type 15.Conclusions In this study at the molecular level,all DEL phenotype is RHD(K40gK); weak D type 15 is the prevalent weak D allele in Anhui Chinese Han population.Additionally,an improved more efficient method was adopted to amplify all the RHD exons in one PCR program.Our study added to the understanding of molecular mechanisms underlying D antigen expression in Anhui Han population and provided useful information for adopting suitable genotyping strategies in routine use.

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Science.gov (United States)

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

    2013-01-01

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

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

    Science.gov (United States)

    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.

  7. Obstructive sleep apnea is associated with impaired glucose metabolism in Han Chinese subjects

    Institute of Scientific and Technical Information of China (English)

    GU Chen-juan; LI Min; LI Qing-yun; LI Ning; SHI Guo-chao; WAN Huan-ying

    2013-01-01

    Background Increasingly,evidence from population,clinic-based and laboratory studies supports an independent association between obstructive sleep apnea syndrome (OSAS) and an increased risk of type 2 diabetes; however,this observation has yet to be replicated in China and the potential mechanisms that link these two conditions are not clear.Methods A total of 179 Han Chinese subjects were enrolled in this study.All subjects underwent polysomnography,the oral glucose tolerance-insulin releasing test (OGTT-IRT) and serum HbA1c measurement.Indexes including homeostasis model assessment-IR (HOMA-IR),Matsuda index,HOMA-β,early phase insulinogenic index (△I30 / △G30),AUC-I180 and oral disposition index (DIo) were calculated for the assessment of insulin resistance and pancreatic β-cell function.Results Based on OGTT,25.4%,44.6% and 54.5% subjects were diagnosed having glucose metabolic disorders respectively in control,mild to moderate and severe OSAS groups (P <0.05).Serum HbA1c levels were highest in subjects with severe OSAS (P <0.05).In contrast,compared with normal subjects,HOMA-β,△I30/△G30 and DIo were lower in severe OSAS group (P <0.05).In stepwise multiple linear regressions,0-min glucose and HbA1c were positively correlated with the percentage of total sleep time below an oxyhemoglobin saturation of 90% (T90) (Beta =0.215 and 0.368,P <0.05); 30-min and 60-min glucose was negatively correlated with the lowest SpO2 (LSpO2) (Beta =-0.214 and -0.241,P <0.05).HOMA-β and Dlowere negatively correlated with T90 (Beta =-0.153 and-0.169,P <0.05) while body mass index (BMI) was the only determinant of HOMA-IR and Matsuda index.Conclusions OSAS is associated with impairment in glucose tolerance and pancreatic β-cell function in Han Chinese subjects while insulin sensitivity is mainly determined by obesity.

  8. Genetic variation of ITGB3 is associated with asthma in Chinese Han children.

    Directory of Open Access Journals (Sweden)

    Yan Zhang

    Full Text Available Previous studies have demonstrated that integrins are involved in the aetiology of asthma. Several single-nucleotide polymorphisms (SNPs in the integrin β3 (ITGB3 gene are significantly associated with asthma in Western populations. Given the important roles of environmental exposures in the development of asthma, we evaluated the associations between six SNPs in ITGB3 and asthma in Chinese Han children. A total of 321 unrelated Chinese children with asthma and 315 healthy children were recruited for the study. SNP genotyping was performed by high-resolution melting analysis (HRM. The selected SNPs were well genotyped by HRM, and SNP rs3809865 in the 3' untranslated region (3'UTR of ITGB3 was found to be strongly associated with asthma (adjusted p = 0.004. The minor allele of rs3809865 showed a protective effect against asthma (OR: 0.59; 95% CI: 0.43-0.8. The seed regions of two miRNAs (hsa-mir-124 and hsa-mir-506 were predicted to bind to the sequence containing rs3809865 by TargetScan and PITA. Luciferase reporter assays demonstrated that the T allele of rs3809865 was more efficiently targeted by hsa-mir-124 than was the A allele, which suggested that rs3809865 could affect the binding of hsa-mir-124 to ITGB3. Furthermore, the transfection of A549 cells with hsa-mir-124 resulted in the downregulation of ITGB3 expression. Our results revealed that rs3809865 was significantly associated with asthma due to its effect on the binding of hsa-mir-124 to ITGB3.

  9. Review - Critical Han Studies

    Directory of Open Access Journals (Sweden)

    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...

  10. Positive Association between GCKR rs780093 Polymorphism and Coronary Heart Disease in the Aged Han Chinese

    Directory of Open Access Journals (Sweden)

    Jiangfang Lian

    2013-01-01

    Full Text Available Objective. Previous studies have confirmed that GCKR rs780093 polymorphism is associated with triglyceride (TG, a known risk factor of coronary heart disease (CHD. The goal of our study is to explore the association of GCKR rs780093 polymorphism with CHD in Han Chinese population. Methods and Results. A total of 568 CHD cases and 494 non-CHD controls were enrolled in the current case-control study. Genotyping was done using melting temperature shift (Tm-shift approach. Our results also showed that GCKR rs780093 polymorphism was significantly associated with TG level (P=0.0016. Although there was no significant association between cases and controls (P>0.05, a breakdown analysis by age yielded a significant association of GCKR rs780093 polymorphism with CHD in individuals aged 65 and older (genotype: χ2=6.86; df = 2; P=0.03; allele: χ2=4.11; df = 1; P=0.04. Conclusion. Our findings confirmed the contribution of GCKR rs780093 polymorphism to TG metabolism and demonstrated GCKR rs780093 as a risk factor of CHD in individuals aged 65 and older.

  11. 中国汉族人群β-珠蛋白基因BP1蛋白结合区多态性分析%Polymorphism in BP1 Binding Site Upstream of β-Globin Gene in Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    孙顺昌; 周指明; 彭运生; 谢春英; 陈群蓉; 王燮衡

    2011-01-01

    本研究旨在对中国汉族人群β-珠蛋白基因BP1蛋白结合区序列进行分析,获取β-珠蛋白基因BP1蛋白结合区的多态性信息,为探讨BP1蛋白结合区多态性与β-珠蛋白表达的相关性奠定基础.收集110例健康中国汉族人群的外周血,并抽提基因组DNA,通过聚合酶链反应扩增B-珠蛋白基因BPI蛋白结合区序列,经DNA测序确定BP1蛋白结合区的多态性序列.结果显示:在中国汉族人群的β-珠蛋白基因BP1蛋白结合区共发现2个多态性位点,它们分别是- 551位点C/T、- 530位点(AC)n(AT)xTy.在-551位点存在C和T碱基,其频率分别为60.4%和39.6%,而- 530位点(AC)n(AT)xTy多态性序列存在(AC)2(AT) 9T5、(AC)2 (AT) 8T5、(AC)2(AT)7T7、(AC)3(AT)7T5、(AC)2(AT)8T9、(AC)3(AT)8T5、(AC)2 (AT)10 T3、( AC)2 (AT)11 T3和(AC)2(AT)7T5共9种单倍型,它们在人群中的频率分别为33.2%、29.1%、24.1%、5.4%、3.2%、1.8%、1.4%、0.9%和0.9%.结论:在中国汉族人群B-珠蛋白基因BP1蛋白结合区内,- 530位点(AC)n(AT)xTy多态性信息丰富,其中( AC)2 (AT) 9T5、( AC)2 (AT) 8T5和(AC)2 (AT) 7T7是三种常见单倍型.(AC)3(AT)8T5是一种新类型多态性序列.这些(AC)n(AT)xTy多态性与β-珠蛋白表达的相关性有待深入研究.%This study was aimed to analyze the BP1 binding site sequence upstream of B-globin gene in Chinese Han population, and to investigate polymorphism in the BP1 binding site upstream of p-globin gene, so as to provide the basis for exploration of relation between polymorphisms in the BP1 binding site and p-globin expression. Genomic DNA was extracted from peripheral leukocytes of 110 healthy individuals in Chinese Han population. Sequence of the BP1 binding site upstream of p-globin gene was amplified by polymerase chain reaction, the polymorphic variation in the BP1 binding site was determined by DNA sequencing. The results indicated that 2 polymorphism loci were found in the BP1 binding site

  12. 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

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

    Science.gov (United States)

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

    2015-11-15

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

  14. Principal component analysis of gene frequencies of Chinese populations

    Institute of Scientific and Technical Information of China (English)

    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 ancestors of Southern and Northern Mongoloids had already separated before reaching Asia. The ancestors of the Southern Mongoloids may result from the initial expansion from Africa or the Middle East, via the south coast of Asia, toward Southeast Asia, and ultimately South China. Upon reaching the Yangtze River, they might even have crossed the river to occupy the nearby regions for a period of time. The ancestors of the Northern Mongoloids probably expanded from Africa via the Northern Pamirs, first went eastward, then towards the south to reach the Yangtze River. The expansion of the Northern Mongoloids toward the south of the Yangtze River happened only in the last 2 or 3 thousand years.

  15. An Association Study Between Norepinephrine Transporter Gene and Major Depression in Southern Chinese Han Population%去甲肾上腺素转运体基因多态性与中国南方汉族人群重性抑郁症的关联研究

    Institute of Scientific and Technical Information of China (English)

    喻妍; 赵靖平; 杨栋; 吴仁容; 郭文斌

    2012-01-01

    目的:探讨去甲肾上腺素转运体(NET)基因多态性与中国南方汉族人群中重性抑郁症患者之间的关系.方法:采用高温连接酶检测反应法,检测254例抑郁症患者和231例正常对照者的NET基因rs5569位点基因型和等位基因分布.结果:①NET基因rs5569位点基因型和等位基因频率在患者组和对照组的分布差异无统计学意义.②携带rs5569TT基因型患者的汉密尔顿抑郁量表(HAMD)睡眠障碍分值显著高于携带CC、CT基因型患者.携带rs5569CC基因型患者的汉密尔顿焦虑量表(HAMA)精神性焦虑因子分值显著低于TT、CT基因型患者.结论:未发现中国南方汉族人群NET基因rs5569多态性与重性抑郁症存在关联但NET基因rs5569多态性可能与症状群中睡眠障碍和精神性焦虑有关联.%Objective: To investigation the association between norepinephrine transporter(NET) gene and major depression in the southern Chinese Han population. Methods: A total of 254 major depressive disorder patients and 231 controls were tested. The ligase detection reaction was used to detect the SNP of rs5569. Results:①No significant difference was found in genotype and allele frequencies of the SNP of rs5569 between case and control.②Genotype TT scored significantly higher than genotype CC and CT on sleep disorder under HAMD. Genotype CC scored significantly lower than genotype TT and CT on psychic anxiety under HAMA. Conclusion: There is no association between major depressive disorder in the southern Chinese Han population and the rs5569 of NET gene. But, association is suspected between the rs5569 of NET gene and symptom clusters such as sleep disorder and psychic anxiety.

  16. Studies on relationship between apolipoprotein E genotype polymorphism and diabetic nephropathy in Chinese Han population of Guangdong province%中国广东地区汉族人群载脂蛋白E基因型与糖尿病肾病的相关性研究

    Institute of Scientific and Technical Information of China (English)

    王艳; 肖正华; 黄萍

    2014-01-01

    Objective To explore the relationship between apolipoprotein E ( ApoE ) genotype and diabetic nephropathy (DN) in Chinese Han population of Guangdong province. Methods 63 cases of DN patients were selected as group A; 57 diabetes patients without complications as group B; 55 healthy persons as group C. ApoE genotype of all objects were measured. Results ApoE2 in the group A was the highest, while the differences in other groups were not obvious. Detection of ApoE3 and ApoE4 was not obvious in three groups. The Level of triglyceride (TG) was highest inε2 group, and the level of total cholesterol (TC) and low density lipoprotein LDL-C were highest in ε4 groups. Conclusions In Chinese Han population of Guangdong province , ApoE gene polymorphism and DN are closely interrelated , and the occurrence ofε2 is proportionate to DN.%目的:探究中国广东地区汉族人群中载脂蛋白E(ApoE)基因型与糖尿病肾病(DN)之间的关系。方法:将63例DN 患者作为甲组;将57例糖尿病未并发 DN 患者作为乙组;同时选择健康者55例作为丙组。3组均为中国广东地区汉族人。分别对所有对象的ApoE基因型进行测定。结果:ApoE2在甲组出现率最高(P<0.05),在乙组和丙组比较差异无显著性。ApoE3、ApoE4在3组中出现率比较差异无显著性。ε2组的甘油三酯(TG)水平最高;ε4组的总胆固醇(TC)及低密度脂蛋白LDL-C水平最高。结论:中国广东地区汉族人群中,ApoE基因型与DN的发生有着密切的联系;等位基因ε2的出现率与DN的发生率成正比。

  17. Shank3基因单核苷酸多态性与中国汉族儿童孤独症的关联%Relationship between Single Nucleotide Polymorphisms of Shank3 Gene and Childhood Autism in Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    刘海兵; 姜志梅; 宋瑞; 郭岚敏; 王立苹

    2011-01-01

    Objective To investigate the relationship between single nucleotide polymorphisms (SNPs) of Shank3 gene and childhood autism in Chinese Han population. Methods Polymernse chain reaction - restricted fragment length polymorphism ( PCR - RFLP) was used to determine genotype and allele of 2 SNPs(rs9616915 and rs13057681)of Shank3 gene in 82 Chinese Han autism children and 80 healthy children. The distribution of SNPs Loci allele were analyzed through case - control study ,and SNPs Loci in autism greup and the healthy controi group were examined regarding Hardy - Weinberg equilibrium tests. Results 1. The genotype distributions of the SNPs in healthy control group and autism group were consistent with the Hardy -Weinberg equilibrium( Pa > 0.05 ). 2. There was no significant difference in the distribution of the ailelic frequency and genotype between the 2 groups( rs96l6915: genotype frequency x2 =0. 452,P >0.05 ;allelic frequency x2 =0.217,P>0.05; rsl3057681: genotype frequency x2 =0.256,P>0. 05;allelic frequency x2 =0. 173,P>0.05). Conclusion The polymorphisms of rs9616915 and rs13057681 in the Shank3 gene are not associated with childhood autism in Chinese Han population ,etiological genes of children autism need further research.%目的 探讨Shank3基因单核苷酸多态性(SNPs)与中国汉族儿童孤独症之间的关系.方法 采用PCR与限制性片段长度多态性(PCR-RFLP)分析方法对82例孤独症儿童及80例健康儿童Shank3基因上的2个SNPs位点rs9616915和rs13057681的基因型和等位基因进行测定.采用病例-对照方法分析SNPs位点等位基因的分布,对孤独症组和健康对照组SNPs位点进行Hardy-Weinberg平衡检验.结果 1.健康对照组和孤独症组儿童观察值和预期值间差异均无统计学意义(Pa>0.05),即健康对照组和孤独症组均符合Hardy-Weinberg遗传平衡法则.2.二组儿童rs9616915和rs13057681位点等位基因频率和基因型分布上

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

    Directory of Open Access Journals (Sweden)

    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.

  19. Association Study of a Proliferation-inducing Ligand, Spermatogenesis Associated 8, Platelet-derived Growth Factor Receptor-alpha, and POLB Polymorphisms with Systemic Lupus Erythematosus in Chinese Han Population

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    Ping Li

    2016-01-01

    Conclusions: Different genetic backgrounds from different ancestries and various populations may result in different genetic risk factors for SLE. We did not detect any significant association with SNPs of APRIL, SPATA8, PDGFRA, and POLB.

  20. The study on facial soft tissue thickness using Han population in Xinjiang.

    Science.gov (United States)

    Wang, Jierui; Zhao, Xi; Mi, Congbo; Raza, Iqbal

    2016-09-01

    Facial profile is an important aspect in physical anthropology, forensic science, and cosmetic research. Thus, facial soft tissue measurement technology plays a significant role in facial restoration. A considerable amount of work has investigated facial soft tissue thickness, which significantly varies according to gender, age, and race. However, only few studies have considered the nutritional status of the investigated individuals. Moreover, no sufficient research among Chinese ethnic groups, particularly Xinjiang population in China, is currently available. Hence, the current study investigated the adaptability of facial soft tissue to the underlying hard tissue among young adults of Han population in Xinjiang, China; the analysis was performed on the basis of gender, skeletal class, and body mass index (BMI). Measurements were obtained from the lateral cephalometric radiographs of 256 adults aged 18-26 years old. Differences in soft tissue thickness were observed between genders and among skeletal classes. With regard to gender, significant differences in soft tissue thickness were found at rhinion, glabella, subnasale, stomion, labrale superius, pogonion, and gnathion among different BMI groups. Thus, nutritional status should be considered when reconstructing an individual's facial profile. Results showed that the thinnest and thickest craniofacial soft tissues existed in rhinion and lip regions, respectively. Overall, this research provides valuable data for forensic facial reconstruction and identification of young adults in Xinjiang, China.

  1. 中国汉族人群TIRAP基因编码区多态性与结核病易感性的相关性研究%Research on the association of TIRAP coding region polymorphism with susceptibility to tuberculosis in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    李松; 李传友; 车南颖; 丁志鑫; 张旭霞; 程君; 张林波; 时广利; 张洁; 王雪玉

    2011-01-01

    Objective To detect specific polymorphisms in Toll-interleukin 1 receptor domain containing adaptor protein(TIRAP) coding region for Chinese Han population, and verify whether they are associated with susceptibility to tuberculosis. Methods Search TIRAP polymorphisms by sequencing in small sample; detect single nucleotide polymorphism(SNP) by ligase detection reaction technique in large sample; analyze whether polymorphisms are related to tuberculosis by statistic methods. Results Four polymorphisms were present in the TIRAP coding region. 394A had higher frequencies in the tuberculosis(TB)group than the control. But allelic and genotypic analysis showed that there were no significant difference in statistic between TB patients and controls(P>0.05). The SNP G164A mutation related with TB patient's condition. Comparing to controls, retreatment patients' allelic frequencies had significant difference in statistic(P0.05).G164A位点跟结核病病情有关,复治病人与健康人该位点等位基因差异具有统计学意义(P<0.05),同时肺部形成空洞病人与菌阳病人突变率均比健康人要低.结论 TIRAP 基因编码区多态性可能是中国汉族人群结核病发生发展的危险因素.

  2. 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

    Science.gov (United States)

    2012-01-01

    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 PMongolian, and Han populations was lower than their counterparts in the NHANES Ш study (USA) but higher than in the InterASIA Study (China). 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. PMID:22759741

  3. Evaluating the transferability of Hapmap SNPs to a Singapore Chinese population

    Directory of Open Access Journals (Sweden)

    Wang De Yun

    2010-05-01

    Full Text Available Abstract Background The International Hapmap project serves as a valuable resource for human genome variation data, however its applicability to other populations has yet to be exhaustively investigated. In this paper, we use high density genotyping chips and resequencing strategies to compare the Singapore Chinese population with the Hapmap populations. First we compared 1028 and 114 unrelated Singapore Chinese samples genotyped using the Illumina Human Hapmap 550 k chip and Affymetrix 500 k array respectively against the 270 samples from Hapmap. Secondly, data from 20 candidate genes on 5q31-33 resequenced for an asthma candidate gene based study was also used for the analysis. Results A total of 237 SNPs were identified through resequencing of which only 95 SNPs (40% were in Hapmap; however an additional 56 SNPs (24% were not genotyped directly but had a proxy SNP in the Hapmap. At the genome-wide level, Singapore Chinese were highly correlated with Hapmap Han Chinese with correlation of 0.954 and 0.947 for the Illumina and Affymetrix platforms respectively with deviant SNPs randomly distributed within and across all chromosomes. Conclusions The high correlation between our population and Hapmap Han Chinese reaffirms the applicability of Hapmap based genome-wide chips for GWA studies. There is a clear population signature for the Singapore Chinese samples and they predominantly resemble the southern Han Chinese population; however when new migrants particularly those with northern Han Chinese background were included, population stratification issues may arise. Future studies needs to address population stratification within the sample collection while designing and interpreting GWAS in the Chinese population.

  4. Relationship between the cytotoxin-associated gene-A status of H pylori strains and cerebral infarction in European Caucasians and Chinese Han: A meta-analysis

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    AIM: To study the relationship between the cytotoxin associated gene-A (CagA) status of H pylori strains and cerebral infarction among European Caucasians and Chinese Han by conducting a meta-analysis. METHODS: Ten case-control studies, with data on a total of 907 cases and 966 controls, were retrieved and considered; disqualified studies were excluded. The included studies were then tested for heterogeneity, and a meta-analysis was performed. RESULTS: The combined data revealed CagA-bearing strains of H pylori which cause chronic infection are associated with an increased risk of cerebral infarction (OR=2.66,95% CI:2. 17-3.26),but no such relationship was found with CagA-negative strains (OR =0.74,95% CI:0.49-1.10) in the overall population. We performed subgroup analyses, dividing the overall population into European Caucasians and Chinese Hart subgroups, and analyzed the studies according to their subgroup classification. Through the subgroup analysis, an association between cerebral infarction and CagA bearing strains was found in both subgroups (OR=2.60,95% CI:1.93-3.49 in Chinese Han; OR=2.71,95% CI:2.05-3.59 in European Caucasians),but no significant association was found between cerebral infarction and CagA-negative strains (OR=0.81,95% CI:0.45-1.48 in Chinese Han; OR=0.64,95% CI:0.37-1.09 in European Caucasians). CONCLUSION: These results suggest CagA-bearing strains of Hpylori are significantly associated with susceptibility to cerebral infarction in Chinese Han and European Caucasians, but that CagA-negative strains are not a definite predisposing factor in either subgroup. The magnitude of this association with cerebral infarction needs to be confirmed by prospective studies and combined studies of H pylori eradication.

  5. Autocratic Bureacratism: Han Fei's Ancient Chinese Strategies of Governance as Contrasted with Machiavelli's Political Philosophy

    OpenAIRE

    2002-01-01

    This study is a comparative analysis of the political philosophies of the ancient Chinese thinker Han Fei (ca. 280-233 BC) and the Western Renaissance thinker Niccolò Machiavelli (AD 1469-1527). In the thought of these pioneers of strategic political thought – both notorious for their hardheaded and “realist” approach to political life – the special problems of power maintenance and political stability are focused. The strong focus on these issues in the two thinkers must be seen in the l...

  6. Vision improvement in a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Lin, Hong-Zin; Pang, Cheng-Yoong; Chen, Shee-Ping; Tsai, Rong-Kung

    2012-12-01

    In this report, we describe a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy. The family carried a mitochondrial DNA mutation (mtDNA m.14484T>C) associated with spontaneous visual improvement. A 15-year-old boy from this family was diagnosed with Leber's hereditary optic neuropathy 6 months after losing his vision. His vision recovered after 8 months of supportive treatment. His mother, older brother, and two sisters also had the same mutation and had previously experienced vision loss. In this family, there was no male predominance.

  7. Transcendental in Hans Urs von Balthasar’s theological aesthetics and its significance for Chinese academic aesthetics

    OpenAIRE

    Peng, Sheng-Yu

    2013-01-01

    This thesis begins a dialogue between Hans Urs von Balthasar’s theological aesthetics and Chinese academic aesthetics. We identify a tension between aesthetics and religion in Chinese academic aesthetics, and argue that a dialogue with von Balthasar’s work has the potential to contribute to the development of Chinese academic aesthetics with regard to overcoming that tension. In order to set a ground for the dialogue, von Balthasar’s theological aesthetics is examined in Par...

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

    Directory of Open Access Journals (Sweden)

    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.

  9. 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.

  10. Relationship between HLA-DRB alleles and onychomycosis in Chinese Han population in Jiangsu and Anhui provinces%HLA-DRB等位基因与苏皖籍汉族人群甲真菌病的相关性初步研究

    Institute of Scientific and Technical Information of China (English)

    冯姣; 桑红; 周国华; 邹秉杰; 吴凡; 张敏; 邓德权; 刘芳; 孔庆涛

    2013-01-01

    Objective To analyze the association of HLA-DRB alleles with onychomycosis in Chinease Han population in Jiangsu and Auhui provinces.Methods Polymerase chain reaction with sequence-specific primers (PCR-SSP) was conducted to analyze the type of HLA-DRB alleles in 50 patients with Trichophyton rubruminduced onychomycosis,14 patients with Trichophyton mentagrophytes-induced onychomycosis and 52 healthy human controls of Chinese Han nationality.Data were processed with the SPSS 13.0 software for Windows.The frequency of HLA-DRB alleles was compared between these groups using chi-square test.Results No significant differences were observed in the frequency of HLA-DRB alleles between the patients with Trichophyton rubruminduced onychomycosis and healthy controls.The patients with Trichophyton mentagrophytes-induced onychomycosis showed significantly higher frequency of HLA-DRB1*14 allele (17.86% vs.3.85%,P < 0.01,OR =5.435,95% CI:1.353-21.835),lower frequency of HLA-DRB1*15 allele (0 vs.16.3%,P < 0.05,OR =0.837,95% CI:0.768-0.911)compared with the healthy controls.Conclusions In Chinese Han population in Jiangsu and Anhui provinces,HLA-DRB alleles appear to be unassociated with Trichophyton rubrum-induced onychomycosis,whereas HLA-DRB1*14 allele seems to be a susceptible allele,and HLA-DRB1*15 be a protective allele,for Trichophyton mentagrophytes-induced onychomycosis.Genetic backgrounds may be different for onychomycosis caused by different Trichophyton species in Chinese Han population.%目的 探讨HLA-DRB等位基因与苏皖籍汉族人群甲真菌病的相关性.方法 采用聚合酶链反应-序列特异性引物方法对50例红色毛癣菌甲真菌病患者、14例须毛癣菌甲真菌病患者和52例健康对照进行HLA-DRB等位基因分型.应用SPSS for windows 13.0软件包,采用X2检验比较甲真菌病患者组与对照组的HLA-DRB等位基因频率.结果 红色毛癣菌甲真菌病患者HLA-DRB各等位基因频率与健康对照

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Ping Yao

    2016-01-01

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

  13. Two-stage replication of previous genome-wide association studies of AS3MT-CNNM2-NT5C2 gene cluster region in a large schizophrenia case-control sample from Han Chinese population.

    Science.gov (United States)

    Guan, Fanglin; Zhang, Tianxiao; Li, Lu; Fu, Dongke; Lin, Huali; Chen, Gang; Chen, Teng

    2016-10-01

    Schizophrenia is a devastating psychiatric condition with high heritability. Replicating the specific genetic variants that increase susceptibility to schizophrenia in different populations is critical to better understand schizophrenia. CNNM2 and NT5C2 are genes recently identified as susceptibility genes for schizophrenia in Europeans, but the exact mechanism by which these genes confer risk for schizophrenia remains unknown. In this study, we examined the potential for genetic susceptibility to schizophrenia of a three-gene cluster region, AS3MT-CNNM2-NT5C2. We implemented a two-stage strategy to conduct association analyses of the targeted regions with schizophrenia. A total of 8218 individuals were recruited, and 45 pre-selected single nucleotide polymorphisms (SNPs) were genotyped. Both single-marker and haplotype-based analyses were conducted in addition to imputation analysis to increase the coverage of our genetic markers. Two SNPs, rs11191419 (OR=1.24, P=7.28×10(-5)) and rs11191514 (OR=1.24, P=0.0003), with significant independent effects were identified. These results were supported by the data from both the discovery and validation stages. Further haplotype and imputation analyses also validated these results, and bioinformatics analyses indicated that CALHM1, which is located approximately 630kb away from CNNM2, might be a susceptible gene for schizophrenia. Our results provide further support that AS3MT, CNNM2 and CALHM1 are involved with the etiology and pathogenesis of schizophrenia, suggesting these genes are potential targets of interest for the improvement of disease management and the development of novel pharmacological strategies.

  14. Association of DNMT Polymorphisms with Asthenozoospermia in a Chinese Han population%中国汉族人群DNMT基因单核苷酸多态性与弱精子症的相关性研究

    Institute of Scientific and Technical Information of China (English)

    李琦; 欧光鑫; 杨学习; 余庆锋; 叶禄伟; 毛向明

    2014-01-01

    目的:探讨DNMT 基因(DNA methyltransferase)单核苷酸多态性(SNP)与弱精子症男性不育的关系。方法本研究检测了中国南方人群中DNMT1(rs2114724, rs2228611, rs2228612, rs8101866, rs16999593), DNMT2(rs11254413),DNMT3A (rs1550117, rs11887120, rs13420827, rs13428812, rs6733301), DNMT3B (rs2424908,rs2424913)和DNMT3L (rs113593938)14个SNPs与弱精子症的相关性。运用Sequenom MALDI-TOF-MS 平台技术对特发性弱精子症不育患者(病例组,n=195)和正常精子活力男性(对照组,n=184)精液样本DNA进行基因分型。通过遗传平衡检验(Hardy-Weinberg Equilibrium test, HWE)样本结果,卡方检验和logistic回归分析所有基因型分布和等位基因频率。结果这些检测的SNPs中,DNMT3A基因rs13428812位点与弱精子症相关(OR=1.54;95%CI:1.02-2.13; P=0.039)。其余位点未检查出与弱精子症的相关性。结论 DNMT3A基因rs13428812位点可能与弱精子症密切相关,但是机制尚不明确。%Objective To investigate the association between DNMT gene polymorphism and asthenozoospermia. Methods The associations of 14 single nucleotide polymorphisms (SNPs) from DNMT1 (rs2114724, rs2228611, rs2228612, rs8101866, rs16999593), DNMT2 (rs11254413), DNMT3A (rs1550117, rs11887120, rs13420827, rs13428812, rs6733301), DNMT3B (rs2424908, rs2424913) and DNMT3L (rs113593938) with asthenozoospermia in the population of South China were assessed in the study. The SNPs genotyping was carried out in 195 idiopathic asthenospermia patients and 184 age-matched healthy volunteers using the Sequenom MALDI-TOF-MS platform. After HWE, the genotype and allele frequencies were calculated and analyzed with Chi-square test and logistic regression. Results Among these SNPs, rs13428812 in DNMT3A was significantly associated with increased asthenozoospermia risk (odds ratio [OR], 1.54; 95%confidence interval [95%CI], 1.02-2.13; P = 0.039). However, no

  15. 中国汉族强直性脊柱炎患者人类白细胞抗原-B27多态性研究%Polymorphism of HLA-B27 in ankylosing spondylitis of Chinese Han population: B * 2715 a noteworthy subtype

    Institute of Scientific and Technical Information of China (English)

    吴震; 古洁若; 林智明; 廖泽涛; 黄烽; 魏秋静; 曹双燕

    2008-01-01

    Objective To investigate the distribution of HLA-B27 subtypes in ankylosing spondylitis(AS) patients of Chinese Han population by using the updated HLA-B27 typing data. Methods One hundred AS subjects were randomly selected from spondyloarthritis patients data bank of the third affiliated hospital of Sun Yat-sen university. All subjects were independent individuals, and the duplicated samples in the same family were excluded. Salt fraction method was used to prepare genome DNA. Luminex liquid array combining PCR-SSOP was used to perform the low resolution HLA-B genotyping. PCR-SSP was applied to perform the high resolution HLA-B27 typing for HLA-B27 positive subjects. Results Ninety-eight independent AS patients were recruited randomily, of which, 93 were HLA-B27 positive, with positive rate 94.9%, and covered 96% patients with family history of AS. Three subtypes were detected in this population including B * 2704 (n=76, 81.7%), B * 2705 (n=12, 12.9%) and B * 2715 (n=5, 5.4%). Compared with the two reports about HLA-B27 subtype distribution in healthy HLA-B27 positive Han population there was no significant difference between AS patients and healthy controls. But no B * 2715 case was found in those two reports of healthy population. Three reports (including 1 report in Chinese) could found about B * 2715 subtype, but all positive cases were oriental people. Furthermore, all B * 2715 positive patients were AS patients. Conclusion B * 2704 is the predominant subtype ,in AS patients of Chinese Han population, and followed by B * 2705. We found five cases with positive B * 2715, a considerable rare allele. This may suggest association between B * 2715 and AS.%目的 本研究拟利用最新的人类白细胞抗原(HLA)-B27亚型数据,调查中国汉族强直性脊柱炎(AS)患者HLA-B27及其亚型的分布情况.方法 从我院脊柱关节炎患者数据库中随机抽取100例AS患者.用luminex液态芯片,结合聚合酶链反应-序列特异性寡核苷酸探

  16. White blood cells contribute to patient-specific warfarin dose for Han Chinese

    Institute of Scientific and Technical Information of China (English)

    ZHU Jin; ZHENG Wen-jie; ZHANG Wei-juan; WANG He-yao; WANG Chen

    2012-01-01

    Background Warfarin is the most commonly prescribed anticoagulant worldwide.Factors which influence warfarin's inter-individual requirements including age,weight,and genetic factors explained about 50% of dose variance,and unidentified factors still remain.The aim of this study was to explore whether white blood cell count affects warfarin dose requirements.Methods Three hundred and twenty-two patients suffering from venous thromboembolism (VTE) and taking warfarin were recruited in this study.Genotyping of selected genes was conducted and other information was collected using the Epidata software.Dosing algorithms were constructed by multivariate linear regression analyses.Results In addition to well-known factors such as age,body weight,CYP2Cg*3,and VKORC1 c.1173C>T,white blood cell counts negatively related to warfarin dose requirements and contributed to warfarin variability in Han Chinese by about 0.6%.Conclusion White blood cell count has a small but significant contribution to warfarin dose requirements in Han Chinese.

  17. Relationship between genetic polymorphisms in the DRD5 gene and paranoid schizophrenia in northern Han Chinese.

    Science.gov (United States)

    Zhao, Y; Ding, M; Pang, H; Xu, X M; Wang, B J

    2014-03-12

    Dopamine (DA) has been implicated in the pathophysiol-ogy of several psychiatric disorders, including schizophrenia. Thus, genes related to the dopaminergic (DAergic) system are good candidate genes for schizophrenia. One of receptors of the DA receptor system is dopa-mine receptor 5 (DRD5). Single nucleotide polymorphisms (SNPs) in the regulatory regions of DRD5 gene may affect gene expression, influence biosynthesis of DA and underlie various neuropsychiatric disorders re-lated to DA dysfunction. The present study explored the association of SNPs within the DRD5 gene with paranoid schizophrenia in Han Chinese. A total of 176 patients with schizophrenia and 206 healthy controls were genotyped for four DRD5 SNPs (rs77434921, rs2076907, rs6283, and rs1800762). Significant group differences were observed in the allele and genotype frequencies of rs77434921 and rs1800762 and in the frequen-cies of GC haplotypes corresponding to rs77434921-rs1800762. Our find-ings suggest that common genetic variations of DRD5 are likely to con-tribute to genetic susceptibility to paranoid schizophrenia in Han Chinese. Further studies in larger samples are needed to replicate this association.

  18. Population data of 21 non-CODIS STR loci in Han population of northern China.

    Science.gov (United States)

    Yuan, Li; Ge, Jianye; Lu, Di; Yang, Xue

    2012-07-01

    Allele frequencies and forensic statistics of 21 autosomal short tandem repeat loci (i.e., D6S474, D12ATA63, D22S1045, D10S1248, D1S1677, D11S4463, D1S1627, D3S4529, D2S441, D6S1017, D4S2408, D19S433, D17S1301, D1GATA113, D18S853, D20S482, D14S1434, D9S1122, D2S1776, D10S1435 and D5S2500) were estimated in Han population from northern China (n = 220). Significant deviation from Hardy-Weinberg equilibrium was detected only for D22S1045. The observed heterozygosity, the expected heterozygosity, the discrimination power, the probability of paternity exclusion in trios, the probability of paternity exclusion in duos and the polymorphic information content ranged from 0.591 to 0.836, 0.594 to 0.830, 0.762 to 0.948, 0.341 to 0.659, 0.189 to 0.487 and 0.535 to 0.807, respectively. Triallelic patterns were observed at D19S433 and D10S1435. Mutations occurred at D22ATA63, D10S1248, D19S433 and D14S1434 loci with all single-step mutations. The expected mutation rates of these four loci are 0.0042 with 95% confidence interval [0.0001, 0.0232] in a total of 238 meioses. Our results show that these 21 non-CODIS STR loci are highly polymorphic and can be useful for human identification and kinship analysis in Northern Han population in China.

  19. Association of - 1562C > T Polymorphism of Matrix Metalloprotein-9 Gene and Coronary Artery Disease in Chinese Han Population: a Meta-analysis%中国汉族人群基质金属蛋白酶9基因-1562C>T多态性与冠心病易感性的Meta分析

    Institute of Scientific and Technical Information of China (English)

    张步春; 周志文; 徐亚伟

    2011-01-01

    Aim Association between the - 1562C > T single nueleotide polymorphisms of matrix metalloprotein9 gene and the occurrence coronary artery disease in Chinese Han population was studied. Methods Case-controlstudies published before 31 Dec. 2010 about the association of matrix metalloprotein-9 gene - 1562C > T polymorphism and coronary artery disease in Chinese Han population were searched, all the literatures were evaluated and abstracted based on the defined selection criteria by two independent investigators. Publication bias was tested by funnel plot and the odd ratios of all studies were combined dependent on the result of heterogeneity test among the individual studies. The software Review Manager (version 5.0) and Stata (version 10. 0 ) were used for meta-analysis. ResultsSevenstudies were analyzed, there was no publication bias in 7 reviewed studies. The summarized odds ratios of TT and CT genotype combination versus CC genotype across all 7 studies was OR = 1.47 (95% CI was 1. 20 ~ 1. 78, P = 0. 0001) ;T genotype versus C genotype was OR = 1.41 (95% CI was 1. 17 ~ 1. 69, P =0. 0002) ;CC genotype versus TT and CT genotype combination was OR = 0. 68 (95% CI was 0. 55 ~ 0. 82, P T polymorphism in matrix metalloprotein-9 gene is associated with susceptibility of coronary artery disease and T allele might be a risk factor for coronary artery disease.%目的 综合评价中国汉族人群基质金属蛋白酶9基因- 1562C>T多态性与冠心病易感性相关.方法 通过文献检索收集2010年12月以前完成或发表的中国汉族人群基质金属蛋白酶9基因- 1562C>T多态性与冠心病相关性的病例对照研究,剔除不符合要求的文献,以漏斗图检验入选文献的偏倚,并根据各入选文献结果的同质性检验结果进行数据合并,计算总OR值,Meta分析采用Revman5.0及StatalO.0统计软件.结果 共7篇文献符合条件纳入研究,入选文献无明显偏倚,Meta分析显示TT+CT基因型比CC基因型OR=1

  20. 中国汉族人群中Vav2基因和Vav3基因多态性与原发性闭角型青光眼之间关系的研究%Lack of Association of Vav2 and Vav3 Polymorphisms with Primary Angle-closure Glaucoma in Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    高小劲; 李平华

    2012-01-01

    目的 本实验的目的是研究Vav2和Vav3基因多态性与中国汉族人群中原发性闭角型青光眼(Primary angle-closure glaucoma,PACG)的遗传性是否有联系.方法 211名原发性闭角型青光眼患者和206名性别和种族匹配的健康对照者纳入到本病例对照研究中.2个单核苷酸多态(the single nucleotide polymorphisms,SNPs)rs2156323 (Vav2)和rs2801219( Vav3)的基因分型用聚合酶链反应的限制性片段长度多态性分析(polymerase chain reaction restriction fragment length polymorpohism,PCR -RFLP).这两个基因位点的多态性与PACG遗传性之间的关系用卡方检验来评价.结果 rs2156323( Vav2)和rs2801219 (Vav3)的基因频率在所有参与者中均没有偏离哈迪-温伯格平衡( Hardy-Weinberg Equilibrium,HWE,p >0.05).该两个位点的等位基因频率和基因型频率的分布在PACG患者和正常对照者之间均没有差异.结论 本研究的结果显示rs2 156323和rs2801219可能不是中国汉族PACG的易感基因位点,Vav2和Vav3基因可能不是中国汉族PACG患者的易感基因.%Objective The aim of this study was to examine whether Vav2 and Vav3 polymorphisms were associated with primary angle-closure glaucoma (PACG) in a Chinese Han population. Methods A case-control analysis was performed in 211 PACG patients and 206 sex-,and ethnical-matched healthy controls. These two SNPs rs2156323 (Vav2) and rs2801219( Vav3) were genotyped using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay. The association between these genetic polymorphisms and risk of PACG was estimated by x2 . Results The genotypic frequency of rs2156323 (Vav2) and rs2801219 ( Vav3 ) polymorphism in all subjects did not deviate from Hardy-Weinberg equilibrium ( HWE; p > 0. 05 ) . Allelic and genotypic frequency analysis of rs2156323 ( Vav2 ) and rs2801219 (Vav3) revealed no significant difference between patients with PACG and healthy controls. Conclusions The results

  1. 谷胱甘肽硫转移酶T1、M1、P1基因多态性与汉族人群职业性噪声聋易感性的关系%Association between Clutathione S-Transferase Tl, Ml, Pl Polymorphisms and Occupational Deafness among Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    沈欢喜; 李秀婷; 朱宝立

    2012-01-01

    [ Objective ] To investigate whether any of the three functional glutathione S-transferase (GSTT1, GSTM1, GSTP1) polymorphisms are associated with the susceptibility to occupational noise-induced deafness in Chinese Han population. [ Methods ] A case-control study was conducted: 161 cases whose average hearing threshold were no less than 40dB in high frequency, and 161 controls in the same working position with the cases which were matched with age and gender. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used as genotyping. [ Results ] GSTM1 null genotype was a risk factor for occupational noise-induced deafness (adjusted OR=l.85, 95%CI=1.18-2.89). When combined with noise exposure years (>20 years), noise exposure levels [ 86-91dB(A) ] and smoking, the risk became much higher (OR increased). [ Conclusion ] GSTMl null genotype may be a risk factor for occupational noise-induced deafness in Chinese Han population. It may have interactions with exposure level and smoking status.%[目的] 探讨谷胱甘肽硫转移酶的3种常见基因(GSTT1、GSTM1、GSTP1)多态性与汉族人群职业性噪声聋易感性的关系.[方法] 采用病例—对照研究方法,病例组为电测听结果双耳高频平均听阈≥40dB的工人1 61例,对照组为年龄和性别与病例匹配且电测听结果双耳高频平均听阈<40 dB的同岗位轮班工人161例,基因型的测定采用聚合酶链式反应-限制性片段长度多态性( PCR-RFLP).[结果] 通过分析发现GSTM1缺失型是职业性噪声聋的危险因素(调整OR=1.85,95%CI=1.18~2.89),分层分析发现GSTM1缺失型与噪声作业工龄(>20年)、噪声暴露水平[86~91 dB(A)]和吸烟等危险因素结合后,存在交互作用,职业性耳聋的危险性增加(OR值变大).[结论] GSTMI缺失型可能是汉族人群职业性噪声聋的危险因素之一,而且可能与暴露水平、吸烟因素有交互增强作用.

  2. ABO血型系统中1种新A2等位基因的发现及在中国福建地区汉族人群中A2亚型调查%Discovery of A Novel A2 Allel in ABO Blood Group System and Investigation of Its Distribution in Han Population of Chinese Fujian Province

    Institute of Scientific and Technical Information of China (English)

    张爱; 池泉; 任本春

    2012-01-01

    This study was aimed to investigate the distribution of A2 subgroup in Han Population of Chinese Fujian province and its molecular mechanisms . One individual with serologic ABO blood grouping discrepancy was identified with commercially available monoclonal and polyclonal antibodies and lectin: anti-A, anti-B, anti-AB, anti-Al, and anti-H reagents according to the routine laboratory methods. DNA sequences of exon 6, 7 and intron 6 of ABO gene were analyzed by polymerase chain reaction using genomic DNA and direct DNA sequencing or sequencing after gene cloning. Red cells of 3 176 A or AB unrelated individuals were tested with anti- Al. The results showed that this individual was identified as A2 subgroup by serological technology, sequencing analysis indicated the A2 subgroup with novel A variant allele , the novel A allele being different from the allele A101 by 467C > T and 607G > A missense mutation in exon 7, no A2 subgroup was identified from the 3 176 individuals by using standard serological technology. It is concluded that a novel A allele responsible for A2 subgroup composing of 467C > T and 607G > A has been firstly confirmed, and the A2 subgroup is very rare in Chinese Fujian Han population.%本研究探讨ABO血型系统中A2亚型在中国福建地区汉族人群中的分布频率及其分子机制.采用血清学方法鉴定1例A2亚型标本,PCR扩增ABO基因第6、7外显子及第6内含子,PCR产物经割胶纯化后直接测序,并对含有突变位点的扩增片段进行单倍体序列分析;用抗-A1单克隆血清筛查福建地区3176例A或AB型汉族无偿献血者.结果表明,该例A2亚型的基因型鉴定为A/ Olv,与A101相比,其第7外显子存在467C>T和607G>A突变,分别导致多肽链P156L和E203K替换;经标准血清学方法检测,3176例随机A或AB型献血者(同时期健康献血者约16527人)未检出A2亚型.结论:首次发现467C>T和607G>A组合的A2等位基因,A2亚型在福建地区汉族人群中罕见.

  3. Epidemiology Investigation of stroke among Mongolian and Han population aged over 45 in Inner Mongolia.

    Science.gov (United States)

    Zhang, Chunyu; Lan, Tian; Zhe, Yan; Hu, Baolige; Zhang, Guohua; He, Juan; Wang, Zhiguang; Jiang, Mingfang; Hu, Riletemuer

    2017-04-04

    To discuss the status of epidemiology of stroke in the Mongolian and Han population aged over 45 years and to understand the treatment and prevention of stroke. Data collected on stroke populations aged over 45 years in the six areas in Inner Mongolia were analyzed by using stratified multi-stage cluster sampling. The prevalence rate of stroke in patients aged over 45 years in Inner Mongolia was 4.62%. The stroke prevalence rate increased with age in both males and females, the Han and Mongolian populations, and was higher in males than in females in Inner Mongolia. The prevalence rate of stroke in the Mongolian population was higher than in the Han population. The incidence rate of stroke in patients aged over 45 years in Inner Mongolia was 0.28%, of which the rate of relapsed ischemic stroke was 23.29%. The proportion of ischemic stroke in the stroke patients was higher than hemorrhagic stroke. The prevalence and incidence rates of stroke in patients aged over 45 years in Inner Mongolia were high. The prevalence rate of stroke in both the Han population and the Mongolian population increased with age. Ischemic stroke was the major form of stroke.

  4. FTO gene unrelated to overweight in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    @@ After reviewing genetic data on nearly 4,000 Europeans, British researchers announced their discoveries in early 2007: they had found a common variant in a gene known as FTO was significantly associated with obesity.

  5. 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

    Directory of Open Access Journals (Sweden)

    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.

  6. 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.

  7. 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

  8. 对氧磷酶-2基因多态性与高噪声暴露人群的职业性噪声聋易感性的关联研究%Association between single nucleotide polymorphisms of PON2 gene and susceptibility to occupational noise-induced deafness among Chinese Han population exposed to high noise levels

    Institute of Scientific and Technical Information of China (English)

    曹敬莲; 李秀婷; 钟丽; 沈欢喜; 丁璐; 刘静; 刘洋; 朱宝立

    2013-01-01

    目的 探讨职业性噪声聋易感性与中国汉族高噪声暴露[>85 dB(A)]环境下的人群与对氧磷酶-2(PON2)单核苷酸多态性之间的关联.方法 在中国汉族高噪声暴露人群中,采用病例-对照研究方法,根据GBZ 49-2007《职业性噪声聋诊断标准》,将电测听结果双耳高频平均听阈≥40 dB的工人作为病例组,共127例;对照组为电测听结果双耳高频平均听阈<40 dB的同岗位轮班工人,且年龄、性别和噪声接触年限与病例匹配,共136例.体检时抽取研究对象外周静脉血2 ml,提取基因组DNA,基因型的测定采用TaqMan探针法.结果 PON2基因rs7493 CG+GG基因型、rs7785846 CT+TT基因型、rs 12026 CG+GG基因型和rs7786401 GT+TT基因型是导致职业性噪声聋发病的危险因素,调整OR(95%CI)分别为5.87(3.11~11.07)、5.92(3.10~11.32)、5.53(2.93~10.45)和5.93(3.10~11.34).进一步分析上述4种基因型与噪声暴露水平之间的关系发现,噪声暴露水平越高,携带突变基因型个体发生职业性噪声聋的危险性越大.结论 中国汉族高噪声暴露人群PON2基因rs7493、rs12026、rs7785846和rs7786401单核苷酸多态性位点可能与职业性噪声聋易感性有关,并且可能与噪声暴露水平等因素有交互增强作用.%Objective To investigate the association between the single nucleotide polymorphisms (SNPs) of paraoxonase-2 (PON2) gene and the susceptibility to occupational noise-induced deafness among Chinese Han population exposed to high noise levels [>85 dB (A)].Methods A case-control study was conducted in Chinese Han population exposed to high noise levels.The subjects were divided into case group (n=127) and control group (n=136) according to the Diagnostic criteria of occupational noise-induced deafness (GBZ 49-2007).The case group was composed of 127 workers with a mean binaural high-frequency hearing threshold not less than 40 dB,as measured using an electro-audiometer,while the

  9. A single nucleotide polymorphism of the TNRC9 gene associated with breast cancer risk in Chinese Han women.

    Science.gov (United States)

    Chen, F; Zhou, J; Xue, Y; Yang, S; Xiong, M; Li, Y; Liu, Q

    2014-01-01

    A single nucleotide polymorphism (SNP) in the TNRC9 gene was identified as a breast cancer susceptibility genetic variant in recent genome-wide association studies of women of European ancestry. We investigated whether TNRC9 polymorphisms are associated with risk of breast cancer in Chinese women of the Han nationality. We genotyped the SNPs rs3803662, rs1362548, rs1123428 in 870 women, including 388 breast cancer patients and 482 healthy controls, via the PCR-single strand conformation polymorphism procedure and by sequence detection. We found that the T allele and the TT genotype of the SNP rs38033662 is significantly associated with risk for breast cancer in Chinese Han women; however, no significant association was found for rs1362548 or rs1123428. We conclude that SNP rs3803662 is a putative risk factor for breast cancer in Chinese Han women.

  10. Correlation of rs6756667 and rs7583392 polymorphism of EPAS1 with high altitude polycythemia in male Han population

    Directory of Open Access Journals (Sweden)

    Yu CHEN

    2012-12-01

    Full Text Available Objective  To investigate the correlation between rs6756667 and rs7583392 polymorphism of endothelial Per-Arnt-Sim domain protein 1(EPAS1 and high altitude polycythemia(HAPC in male Han population. Methods  A total of 318 individuals with HAPC and 316 male individuals without HAPC (controls of Han population were enrolled in this study, and genotypes of rs6756667 and rs7583392 were identified by polymerase chain reaction-high resolution melting analysis method. Polymorphism data of this study were compared with that collected from Han males in Beijing in the International HapMap Project database and Tibetan population from previous literature. Results  Genotypes of AA, AG and GG were found in rs6756667 and rs7583392 polymorphism. The frequencies of the three genotypes of rs6756667 in HAPC group and control group were 1.9%, 16.0%, 82.1% and 3.2%, 22.8%, 74.0%, respectively. The distribution of genotypes showed significant difference between HAPC group and control group (P=0.049, with frequency of GG genotype in HAPC group was markedly higher than that of control group (P=0.025. The frequencies of A allele and G allele were significantly different between HAPC group and control group (P=0.011, OR=0.645,95%CI=0.459~0.908. The frequencies of the three genotypes of rs7583392 in HAPC group and control group were 77.7%, 18.6%, 3.7% and 69.0%, 24.0%, 7.0%, respectively, while the frequency distribution of rs7583392 did not match the Hardy-Weinberg equilibrium test. Compared with Han Chinese in Beijing, there was no significant difference in frequency distribution of genotypes or alleles of rs6756667 polymorphism in this study, while statistically significant significance was found as compared with Tibetan population as found from previous literature(χ2=76.133, P<0.0001. Conclusion  Polymorphism of rs6756667 in EPAS1 is associated with the occurrence of HAPC in male Han population, the A allele may be a protective factor against HAPC, while the

  11. 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.

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

    Institute of Scientific and Technical Information of China (English)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Institute of Scientific and Technical Information of China (English)

    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 ...

  15. The Association between EEFSEC, 8q24 and Prostate Cancer in Chinese Han Populations%EEFSEC基因和8q24与中国北京汉族人群前列腺癌患病风险的关系

    Institute of Scientific and Technical Information of China (English)

    张玉荣; 王建业; 史晓红; 刘铭; 杨泽; 霍正浩

    2012-01-01

    目的 探索EEFSEC基因 (rs10934853,A) 和8q24 (rs6983561,C; rs445114,T)与中国北京汉族人群前列腺癌(prostate cancer,Pca)临床相关危险因素间的关联性.方法 收集212名Pca患者和231名正常对照者血液标本,用病例-对照和单纯病例法进行两组间的等位基因及基因型频率差异分析,探讨各基因SNP与Pca及相关临床表型之间的关联性.结果 ① EEFSEC基因(rs10934853,A)和8q24(rs6983561,C; rs445114,T)等位基因和基因型频率在病例组和对照组间的分布差异无统计学意义(P>0.05).② EEFSEC基因(rs10934853,A)和8q24(rs6983561,C ; rs445114,T)3个SNPs之间具有协同作用.③基因环境交互作用分析表明携带8q24rs6983561的AA基因型人群Pca易感性与患病年龄负相关(P=0.024),具有统计学意义.其他SNPs与Pca的患病年龄、Gleason评分、PSA浓度以及肿瘤分期等指标均无显著相关性(P>0.05).结论 中国北京汉族人群中EEFSEC基因(rs10934853,A)和8q24(rs6983561,C;rs445114,T)3个SNPs的协同作用可能会增加中国人群的Pca患病风险.携带8q24rs6983561的AA基因型人群Pca易感性与患病年龄负相关.%Objective To explore the associations between 3 SNPs (rsl0934853 at EEFSEC and rs6983561, rs445114 at 8q24) and Pea, and the relative clinical risk factors in Chinese Han populations. Methods Blood samples and personal information of 212 Pea patients and 231 controls were collected. The frequencies of alleles and genotypes of these 3 SNPs in two groups were analyzed based on the model of case - control and case - only studies. We also explored the association between these loci and the clinical characteristics. Results ① There is no significantly different distribution of risk alleles and genotype frequencies in cases and controls among the association of EEFSEC ( rsl0934853 , A) and 8q24 (rs6983561, C; rs445114, T) and Pca(P>0.05). ② The interaction of 3 SNPs in EEFSEC (rsl0934853, A) and 8q24 (rs6983561, C; rs445114, T

  16. 汉族人群血管紧张素转换酶基因插入/缺失(I/D)的遗传多态性%Genetic polymorphism of angiotensin-converting enzyme gene insertion/deletion in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    高纯; 顾国浩; 夏正

    2006-01-01

    BACKGROUND: The angiotensin-converting enzyme (ACE) is the important component of the renin-angiotensin-aldosterone system (RAS). The ACE gene has, in fact,insertion/deletion polymorphism in intron 16, consisting of a 287-base pair Alu repeat sequence. ACE gene heterozygotes insertion/deletion (I/D) polymorphism is correlated with cardiovascular disease and IgA nephropathy and other diseases. OBJECTIVE: To investigate the distribution of ACE gene I/D polymor-phism in Chinese Han population in comparison with other known ethnic populations. DESIGN: Observation study on healthy individuals of Han nationality. SETTING: Key Laboratory of Clinical Immunology of Jiangsu Province; Department of Laboratory Medicine, First Hospital Affiliated to Soochow University; Department of aboratory Medicine, College of Medical Technology of Jiangsu University PARTICIPANTS: Totally 241 healthy individuals who received the healthy examination in the First Hospital of Soochow University between December 2005 and January 2006 were recruited in the experiment. They were 152 male and 89 female , with mean age of (27±8)years. All the participants without blood relationship were Han nationality from Suzhou region in China, free from disorder of hepatic, renal, endocrine and cardio- cerebrovascular diseases which were confirmed by clinical and experimen- tal examination. METHODS: Genotype of ACE gene I/D polymorphism allele of 241 healthy individuals of Han nationality was detected with polymerase chain reaction (PCR). PCR purified products with genotype of deletion/deletion (DD) and insertion/insertion (Ⅱ) polymorphism were performed DNA sequencing with fluorescence-labeled end termination method. MAIN OUTCOME MEASURES: Genotype and allele frequency of ACE gene I/D, as well as the comparison between them and those of other ethnic population. RESULTS: All the 241 subjects participated in final result analysis. ① The genotypes of ACE were DD, Ⅱ and ID. Compared with allele Ⅰ, allele D

  17. 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

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

    Directory of Open Access Journals (Sweden)

    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.

  19. The localization of type 2 diabetes susceptibility gene loci in northern Chinese Han families

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    We conducted a genome-wide scan,in which 358 well distributed fluorescent dye-labe- led microsatellite marker sets were applied in 32 Chinese Han type 2 diabetes families from Northern China to search for the susceptibility gene loci.The data collected from screening all the chromosomes of genome were genotyped by using genescan and genotyping software,then,parametric and non-parametric multipoint test,and affected sib-pair analysis as well,were used to analyze the data.We identified some susceptibility gene loci residing in chromosomes 1,12,18,20,respectively,or precisely,located around D1S214,D1S207,D1S218,D1S235,D12S336,D18S61 and D20S118.The comparison of this result with those from other regions and races reflected the complexity and heterogeneity of type 2 diabetes.

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

    Science.gov (United States)

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

    2013-01-01

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

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

    Science.gov (United States)

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

    2007-01-30

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

  2. Polymorphic variation of inflammation-related genes and risk of non-Hodgkin lymphoma for Uygur and Han Chinese in Xinjiang.

    Science.gov (United States)

    Gu, Xia; Shen, Yan; Fu, Ling; Zuo, Hong-Yun; Yasen, Halida; He, Ping; Guo, Xin-Hong; Shi, Yu-wei; Yusufu, Muhabaiti

    2014-01-01

    Polymorphisms of inflammation-related genes have been found to be associated with non-Hodgkin lymphoma (NHL) or some of its subtypes, but only a few relevant data have been reported in China. In this study, the Snapshot method was used to assess genetic variation; a total of 14 single nucleotide polymorphisms (SNPs) for 6 inflammatory factors in 157 NHL cases (64 Uygur ethnic subjects, 93 Han Chinese) and 435 controls (231 Uygur and 204 Han Chinese) were studied from the Xinjiang province of China. Haplotype distribution was estimated using PHASE 2.3 software. Statistical differences in the genotype and haplotype frequencies between case and control groups were also considered and estimated. For the Han population, the geneotype distributions for TNF- αrs1800629, TNF-αrs1800630, IL-6 rs1800795, IL-6 rs1800797, NF-KB1 rs1585215 and TLR-4 rs4986790 showed significant differences between the case and control groups (p<0.05). The TNF-α gene frequencies of ACG and CCA haplotypes in the cases were higher than in the controls (OR=2.45, 95% CI: 1.55-3.89, p=0.0002, OR=2.53, 95% CI: 1.10-5.80, p=0.029, respectively), and the same findings were detected for TNF-β gene CA haplotype (OR=1.87, 95% CI: 1.21-2.90, p=0.0054). However, for the Uygur population, no such significant differences were detected within the gene-type distribution of the 14 SNPs. The TNF-α gene frequency of the CCA haplotype between the two groups (OR=1.98, 95% CI: 1.11-3.51, p=0.021) revealed a statistically significant difference. Our results showed that polymorphic variations of inflammation-related genes could be important to the NHL etiology of the Han population, and that these may only have limited influence on the Uygur population.

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

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    Ping Rao

    2016-08-01

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

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

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

    2016-10-01

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

  5. 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.

  6. 应用PCR-SSOP技术研究中国汉族、维吾尔族HLA-A基因座基因多态性%Analysis of DNA Polymorphism at HLA-A Locus by PCR Amplification with Sequence Specific Oligonucleotide Probe in Chinese Han and Uygur Populations

    Institute of Scientific and Technical Information of China (English)

    闫春霞; 宋艳萍; 赖淑苹; 赖江华; 张洪波; 赵君海; 李生斌

    2002-01-01

    ,汉族群体HLA-A基因座杂合度(Heterozygosity, H)、个体识别率(Discrimination Power, DP)和非父排除率(Probability of Paternity Exclusion, EPP)分别为0.9029、0.9776和0.8592;维族群体H、DP和EEP分别为0.9063、0.9379和0.7885.和其他遗传标记(如VNTR、STR、SNP)的单一位点相比,HLA-A具有高度的杂合率、个体识别率和非父排除率.因此,HLA-A等位基因在法医个体识别、亲权鉴定、基因诊断、人类学等领域具有重要的应用价值.%To determine HLA-A genetic polymorphism in Chinese populations and establish ethnic genetic database, 165 Han and 162 Uygur subjects were investigated with a non-isotopic and sensitive method PCR-SSOP. 22 alleles were identified in Han with the most frequent allele being HLA-A*1101(19.7%), followed by *0201(12.72%). Also, 22 alleles were identified in Uygur with *2407(17.90%) being the most frequent one and the frequencies of following alleles: *0201,*0101,*3301were higher than 10%. HLA-A *0203,*0205,*0210,*0302,*2403 and *3302 were only detected in Han; meanwhile *0205、*0211、*2301、*2502、*68012 and *6802 were only in Uygur. According to Hardy-Weinberg equilibrium, each allele showed no significant (P>0.05) deviation between the expected frequency and the observed one. Heterozygosity (H), discrimination power (DP) and probability of paternity exclusion (EPP) of HLA-A locus from Han nationality were computed to be 0.9029,0.9776 and 0.8592;and those from Uygur as 0.9063, 0.9379 and 0.7885. These results suggest that HLA-A DNA polymorphism and the database of two Chinese populations have useful applications in processing forensic casework (as personal identification, paternity test), tracing population migration and genetic diagnosis.

  7. 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

  8. Relationship between CCR7 rs3136685 polymorphism and coronary artery disease in Han population in north China

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    Wen-zhi CAI

    2013-07-01

    Full Text Available Objective To explore the relationship between the polymorphism of CCR7 rs3136685 and the coronary artery disease (CAD in Han population in north China. Methods A total of 578 cases (including 287 patients with CAD and 291 control individuals admitted to General Hospital of Shenyang Military Command from Mar. 2010 to Dec. 2011 were enrolled in the present study. All the subjects were unrelated individuals of Chinese Han inhabited in the northeast area of China, and had undergone coronary angiography. Those with 50% or more angiostenosis in one or more coronary arteries were sorted out as CAD group, which were then divided in 3 subgroups: namely angiostenosis in one vessel (n=104, in two vessels (n=89 and in three vessels (n=94. Those with normal angiography and no evidence of atherosclerosis were grouped as controls. Genomic DNA was extracted from blood leukocytes and polymorphic genotypes were determined by polymerase chain reaction and sequencing analysis. The correlation of rs3136685 genotype and allele frequency to CAD and the angiographic severity of CAD were analyzed. Results  Three genotypes (GG, AG and AA were detected in CCR7 rs3136685 genetic locus, their frequencies were 42.9%, 45.6% and 11.5%, respectively, in CAD group; and 43.0%, 44.3% and 12.7%, respectively, in control group (P>0.05. The distribution of the 3 genotypes in the both groups was coincident with the law of equilibrium. The distribution frequencies of A allele in CAD group and control group were 34.3% and 34.9% respectively, with no significant difference (P>0.05. Further stratification analysis among the polymorphism of CCR7 rs3136685 and angiographic severity of CAD also yielded negative results (P>0.05. Conclusion The CCR7 rs3136685 polymorphism is unlikely to be a major contributor to the pathogenesis of CAD in Han population in north China.

  9. Research between the Polymorphisms of HLA-DQA1 Gene Copy Number and the Susceptibility to Rheumatoid Arthritis in Chinese Han Population%HLA-DQA1基因拷贝数目多态性与中国汉族人群类风湿关节炎易感性的研究

    Institute of Scientific and Technical Information of China (English)

    陈洁君; 吉恒东; 郭士成; 王一; 李媛; 金力; 王久存; 宋新强

    2013-01-01

    Objective:To explore the association between the polymorphisms of HLA-DQA1 gene copy number and the onset risk of rheumatoid arthritis in Chinese Han population.Methods:The HLA-DQA1 gene copy numbers of 138 patients with rheumatoid arthritis and 191 controls were detected by comparative genomic hybridization(CGH)and AccuCopy assay.Logistic regression model was used to evaluate the impact of this polymorphism on the risk of pathogenesis of rheumatoid arthritis.Results:Carriers with larger number of HLA-DQA1 gene duplication had a signiifcantly increasing risk of rheumatoid arthritis(P=0.009).Conclusion:The polymorphism of HLA-DQA1 gene copy number was the predisposing factor of heredity and the increasing number of HLA-DQA1 gene duplication was a risk factor for rheumatoid arthritis.%目的:探讨中国汉族人群中HLA-DQAl基因拷贝数目多态性与类风湿关节炎发病风险的关系。方法:采用比较基因组杂交和AccuCopy检测技术,检测138例类风湿关节炎患者和191例正常对照者的HLA-DQAl基因拷贝数目。采用Logistic回归模型分析各基因型患者类风湿关节炎的发病风险。结果:HLA-DQAl基因拷贝数目增加的个体,类风湿关节炎发病风险显著升高(P=0.009)。结论:HLA-DQAl基因拷贝数目多态是RA的遗传易感因素,HLA-DQAl基因拷贝数目增加则是类风湿关节炎的危险因素。

  10. Stroke volume variation and pleth variability index to predict fluid responsiveness during resection of primary retroperitoneal tumors in Hans Chinese.

    Science.gov (United States)

    Fu, Q; Mi, W D; Zhang, H

    2012-02-01

    Respiration variation in arterial pulse pressure (ΔPP) and pulse oximetry plethysmographic waveform amplitude (ΔPOP) are accurate predictors of fluid responsiveness in mechanically ventilated patients. We hypothesized that stroke volume variation (SVV) and pleth variability index (PVI) can predict fluid responsiveness in mechanically ventilated patients during major surgical procedures in Hans Chinese. This prospective study consisted of fifty-five Hans Chinese patients undergoing resection of primary retroperitoneal tumors (PRPT). During the surgical procedures, hemodynamic data [central venous pressure (CVP), cardiac index (CI), stroke volume index (SVI), SVV, and PVI] were recorded before and after volume expansion (VE) (8 ml•kg-1 of 6% hydroxyethyl starch 130/0.4). Fluid responsiveness was defined as an increase in SVI ≥ 10% after VE. Four patients were excluded from analysis for arrhythmia or obvious hemorrhage during VE. Baseline SVV correlated well with baseline PVI and the changes in SVV was correlated with the changes in PVI (p Chinese.

  11. Association study of WNT3A gene polymorphisms with the susceptibility to congenital scoliosis in a Chinese Han population%中国汉族人群WNT3A基因多态性与先天性脊柱侧凸遗传易感性的关系

    Institute of Scientific and Technical Information of China (English)

    费琦; 吴志宏; 王以朋; 周熹; 王海; 王乃国; 李想; 邱贵兴

    2011-01-01

    目的 探索WNT3A基因与中国汉族人群先天性脊柱侧凸(CS)及其不同临床表型之间的关联.方法 采用病例对照研究127例中国汉族CS患者;所有病例对照为性别、年龄、民族与病例相匹配的非脊柱侧凸患者.用QIAamp DNABlood Mini Kit法提取外周血样本的全基因组DNA,根据国际人类基因组单体型图计划提供的基因型数据,选取WNT3A的主要功能性单核苷酸多态性(SNP).根据椎体畸形特点、畸形部位、畸形受累程度、有无合并肋骨畸形和椎管内畸形将病例组进一步分为不同临床表型.对所有样本应用SNPstreamUHT Genotyping系统对所选SNP位点进行基因型鉴定;进一步进行基于基因型/等位基因频率的关联分析,并用Haploview 4.1软件分析对照组SNP位点间是否存在连锁不平衡.结果 共筛选SNP1(rs964941)和SNP2(rs752107)2个位点,病例/对照组中等位基因频率分别为:SNP1C=127(50%)/115(45%)、SNP1t=127(50%)/139(55%),SNP2C=197(78%)/200(79%)、SNP2t=57(22%)/54(21%);基因型频率分别为:SNP1CC=35(28%)/25(20%)、SNP1Ct=57(45%)/65(51%),SNP1Tt=35(28%)/37(29%),SNP2CC=73(57%)/81(64%)、SNP2Ct=51(40%)/38(30%)、SNP2Tt=3(2%)/8(6%),差异均无统计学意义(P>0.05).SNP1和SNP2间不存在连锁不平衡.进一步与CS临床表型的关联分析中没有发现阳性位点.结论 在中国汉族人群中,WNT3A基因遗传变异可能不是引起CS及其不同临床表型的主要因素.%Objective To investigate whether the polymorphisms of WNT3A gene are associated with congenital scoliosis (CS) and its various clinical phenotypes in a Chinese Han population.Methods A total of 127 CS patients admitted into PUMC were enrolled into this case-control study between October 2005 and September 2007.There were 55 boys and 72 girls with a mean age of 12.90 years old.Another 127 scoliosis-free control subjects at the same hospital during the same study period were frequency-matched with regards to age (+3 years) and

  12. 中国汉族人群SIM2基因多态性与先天性脊柱侧凸遗传易感性的关联研究%Association study of SIM2 gene polymorphisms with susceptibility to congenital scoliosis in a Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    费琦; 吴志宏; 周熹; 王海; 王乃国; 尹若峰; 王以朋; 邱贵兴

    2009-01-01

    目的 通过候选基因SIM2上功能性单核苷酸多态性(SNP)位点的筛查,探索SIM2与中国汉族人群先天性脊柱侧凸(CS)及其不同临床表型之间的关联.方法 采用病例一对照研究:127例中国汉族CS患者;127例对照为性别、年龄、民族与病例相匹配的非脊柱侧凸患者.用QIAampDNABlood Mini Kit法提取外周血样本的全基因组DNA,根据国际人类基因组单体型图计划提供的基因型数据,选取SIM2的主要功能SNPs.根据椎体畸形特点、畸形部位、畸形受累程度、有无合并肋骨畸形和椎管内畸形将病例组进一步分为不同临床表型.对所有样本应用SNPstreamUHT Genotyping系统对所选SNP位点进行基因型鉴定;进一步进行基于基因型/等位基因频率的关联分析,并用Haploview 4.1软件分析对照组SNP位点间是否存在连锁不平衡.结果 共筛选SNP1(rs2073601)、SNP2(rs2073417)和SNP3(rs2051397)3个位点,病例/对照组中等位基因频率分别为:SNP1A=13(5%)/15(6%)、SNP1C=241(95%)/239(94%),SNP2A=49(19%)/44(17%)、SNP2G=205(81%)/210(83%),SNP3C=68(27%)/58(23%)、SNP3T=186(73%)/196(77%);基因型频率分别为:SNP1AC=13(10%)/15(12%)、SNP1CC=114(90%)/112(88%),SNP2AG=49(39%)/44(35%)、SNP2GG=78(61%)/83(65%),SNP3CC=10(8%)/5(4%)、SNP3CT=48(38%)/48(38%)、SNP3TT=69(54%)/74(58%),差异均无统计学意义(均P>0.05).SNP2和SNP3间存在连锁不平衡,但单倍体型关联分析未见阳性结果.进一步与CS临床表型的关联分析中没有发现阳性位点.结论 在中国汉族人群中,SIM2基因遗传变异可能不是引起CS及其不同临床表型的主要因素,有待于进一步研究.%Objective To investigate whether polymorphisms of SIM2 gene are associated with congenital scoliosis(CS)in a Chinese Han population.and explore the relationship of between polymorphisms of SIM2 and clinical phenotypes of CS. Methods A case-control design was employed in this study.A total of 127 patients(55 boys,72 girls, mean

  13. 中国汉族人群PAX1基因多态性与先天性脊柱侧凸遗传易感性的关联研究%Association of PAX1 gene polymorphisms with susceptibility to congenital scoliosis in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    费琦; 邱贵兴; 吴志宏; 原所茂; 王海; 周熹; 刘正; 宋海峰; 尹若峰; 王以朋

    2008-01-01

    目的 通过候选基因PAX1上单核苷酸多态性(SNP)位点的筛查,探索PAX1与中国汉族人群先天性脊柱测凸(CS)及其不同临床表型之间的关联.方法 采用病例-对照研究,127例中国汉族CS患者;127例对照为性别、年龄、民族与病例相匹配的非脊柱侧凸患者.用QIAamp DNABlood Mini Kit法提取外周血样本的全基因组DNA,根据国际人类基因组单体型图计划提供的基因型数据,应用Haploview 4.0软件选取PAX1的标签SNPs.根据椎体畸形特点、畸形部位、畸形受累程度、有无合并肋骨畸形和椎管内畸形将病例组进一步分为不同临床表型.对所有样本应用SNPstreamUHT Genotyping系统对所选SNP位点进行基因型鉴定;进一步进行基于基因型/等位基因频率的关联分析,并用Haploview 4.0软件分析对照组SNP位点间是否存在连锁不平衡.结果 共筛选SNP1(rs17861031)和SNP2(rs6047590)两个位点,其基因型分布在病例和对照组中均符合Hardy-Weinberg平衡.两位点间不存在连锁不平衡.病例/对照组中等位基因频率分别为:SNP1A=37(15%)/37(15%)、SNP1G=217(85%)/217(85%),SNP2A=28(11%)/25(10%)、SNP2T=226(89%)/229(90%);基因型频率分别为:SNP1AA=2(2%)/2(2%)、SNP1AG=33(26%)/33(26%)、SNP1GG=92(72%)/92(72%),SNP2AA=2(2%)/2(2%)、SNP2AT=24(19%)/21(17)、SNP2TT=101(80%)/104(82%),差异均无统计学意义(P>0.05).在进一步与CS临床表型的关联分析中没有发现阳性位点.结论 在中国汉族人群中,PAX1基因可能不是引起CS及其不同临床表型的主要因素.%Objective To investigate the association of polymorphisms of PAX1 gene with congenital scoliosis (CS) in Chinese Han population and the relationship between the PAX1 gene polymorphisms and the clinical phenotypes of CS. Methods Peripheral blood samples were collected from 127 CS patients, 55 male and 72 female, aged (12.9 ±4.3) (2 - 23), and 127 sex- and age-matched controls. Based on genotype data from the

  14. The relationship between frizzled 6 gene polymorphisms and neural tube defects in children of northern Han Chinese population%卷曲蛋白6基因多态性与中国北方汉族儿童神经管缺陷的相关性

    Institute of Scientific and Technical Information of China (English)

    蔡春泉; 石鸥燕; 沈永明; 马骁

    2013-01-01

    目的 研究中国北方汉族儿童卷曲蛋白6基因编码区单核苷酸多态性(singlenucleotide polymorphisms,SNPs)与神经管缺陷(neural tube defects,NTDs)发生的相关性.方法 采用PCR扩增和测序的方法对135例NTDs患儿和135例对照者卷曲蛋白6基因编码区3个错义单核苷酸多态位点(rs827528,rs3808553,rs12549394)进行基因分型及统计学分析.结果 rs3808553等位基因T和基因型TT在病例组中的频率显著高于对照组,T等位基因和TT基因型儿童发生NTDs的危险性分别是G等位基因和GG基因型的1.575倍(OR=1.575,95%CI1.112 ~2.230,P=0.010)和2.811倍(OR =2.811,95%CI 1.325~5.967,P=0.023);其余2个多态位点在两组间等位基因与基因型分布差异不具有统计学意义.3个SNPs位点间的单体型A-G-C在病例-对照组间分布具有统计学意义(OR =0.560,95%CI0.378~0.830,P=0.004),而单体型A-T-C在病例-对照组间分布也具有统计学意义(OR=1.670,95%CI 1.126 ~2.475,P=0.011).结论 中国北方汉族儿童中卷曲蛋白6基因rs3808553位点多态性与NTDs发生具有明显相关性,基因型TT使NTDs发生的危险度增加,而rs827528和rs 12549394位点多态性与NTDs发生无明显相关性.%Objective To study the association of single nucleotide polymorphisms (SNPs) of the frizzled 6(FZD6) gene with neural tube defects(NTDs) in a northern Han Chinese population.Methods Three nonsynonymous SNPs in the FZD6 gene (rs827528,rs3808553,rs12549394) were examined.The SNPs were genotyped by polymerase chain reaction (PCR) and sequencing in 135 NTD patients and matched normal controls.The allele,genotype and haplotype frequencies were calculated and analyzed to examine the association between FZD6 SNPs and NTDs.Results Both T allele and TT genotype frequencies of the rs3808553 polymorphism in the NTDs group were significantly higher than those in the controls,and children with T allele and TT genotype were associated with increased risk of NTDs (OR

  15. The study of the correlation between the youth age of Chinese han population in Urumqi,cervical vertebra bone age and the degree of mandibular second molar calcification%乌鲁木齐市汉族青少年年龄、颈椎骨龄与下颌第二磨牙钙化程度的相关性研究

    Institute of Scientific and Technical Information of China (English)

    赵浩然; 刘海霞; 范雅儒; 李向宇; 骆慧

    2015-01-01

    Objective:To study the correlation between the youth age of Chinese han population in Urumqi, cervical vertebra bone age and the degree of mandibular second molar calcification. Discusses the application value of two indexes in orthodontic clinical judgment and prediction,and to provide a theoretical basis for growth and development stage. Method:300 cases of urumqi 9~15 years old adolescents (128 men and 172 women) of cephalometrics and Orthopantomography,ap-ply to Hassel and analysis method of the improved cervical Farman assessment of patients with cervical vertebra bone age and Demirjian A-H eight stages method put forward by the left the second molar development,calcified stage assessment, using statistical analysis method to explore the correlation between the three. Result:through the spearman correlation analy-sis, the age in men was highly associated with cervical vertebra bone age (r = 0.795,P <0.795) in women with moderate correlation(r=0.654,P<0.01),age and dental age show moderate correlation(male:r=0.680,P<0.01;female:r=0.650,P<0.01),bone age was highly associated with tooth age(male:r=0.782,P<0.01;female:r=0.729,P<0.01). Cervical vertebra bone age in the combined group and the degree of the second molar calcification is highly correlation (r=0.752,P<0.01), the age was highly associated with cervical vertebra bone age (r = 0.700,P <0.01),the age and the degree of the second molar calcification in moderate correlation (r=0.684,P<0.684). Conclusion:the youth age of Chinese han population in U-rumqi,cervical vertebra bone age and the degree of mandibular second molar calcification do have the correlation,and the cervical vertebra bone age in male and female was highly associated with mandibular second molar calcification degree. Due to orthodontic clinical judgment and prediction with growth stage,the cervical vertebra bone age and evaluate the tooth age better than that of the age.%目的:研究乌鲁木齐市汉族青少年年龄、颈椎骨龄与下

  16. Asseciation of TNF-α gene polymorphisms with Graves disease susceptibility and early course thyroid stimulating hormone receptor antibody level in Chinese Han population in Anhui region%肿瘤坏死因子-α基因多态性与安徽地区汉族人群Graves病易感性及患病早期TRAb水平的关联

    Institute of Scientific and Technical Information of China (English)

    潘天荣; 邢时妹

    2012-01-01

    disease (GD) susceptibility in Chinese Han population in Anhui region.[Methods] The polymorphisms of TNF-α gene were determined by polymerase chain reaction with specific primers in 254 patients affected with GD and 212 healthy controls.Allelic and genotypic frequencies in GD group and normal controls as well as in different genders were compared.The allelic and genotypic frequencies for different thyroid stimulating hormone receptor antibody (TRAb) levels (TRAb > 12 U/L;≤12 U/L) were also compared among patients with earlier onset GD.[Results] (1) The A allele at —863C/A locus in GD group (16.73 %) was significantly greater than that of the control group (11.79%) (P<0.05,OR=1.503);the frequency of AA + CA genotype of —863C/A locus in GD group (32.68%) was significantly greater than that of control group (23.58%) (P<0.05,OR =1.573).There was no significant difference (P>0.05) in the allelic and genotypic frequencies of —857C/ T,—238G/A loci between the two groups.(2) There was no significant difference (P>0.05) in the allelic and genotypic frequencies of —863C/A,—857C/T,—238G/A loci between patients of different genders.(3) There was no significant difference (P>0.05) in such frequencies between patients with earlier onset GD and different TRAb levels (TRAb >12 U/L;≤12 U/L).[Conclusion] (1) The —863 A allele of TNF-α gene may contribute to the development of GD in Chinese Han population in Anhui,whilst —857C/T,—238G/A alleles may not.(2) There is no association between TNF-α gene —863C/A,—857C/T,—238G/A polymorphismns and development of GD in different genders.(3) There was no association between above polymorphisms and TRAb levels in patients with earlier onset GD.

  17. 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

    Institute of Scientific and Technical Information of China (English)

    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

  18. 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.

  19. 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.

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

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

    2015-01-01

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

  1. Stereoselective urinary excretion of S-(-)- and R-(+)-propranolol glucuronide following oral administration of RS-propranolol in Chinese Han subjects

    Science.gov (United States)

    Luan, Lian-Jun; Shao, Qing; Ma, Jian-Yin; Zeng, Su

    2005-01-01

    AIM: To study the stereoselectivity of phase II glucuronidation metabolism of side-chain propranolol in Chinese Han population. METHODS: Sixteen adult Chinese Han volunteers with an average age of 20 years were given a single oral dose of 20 mg racemic propranolol. Human urine at indicated time after administration was collected and S-(-)-propranolol glucuronide and R-(+)-propranolol glucuronide were determined simultaneously by using RP-HPLC. RESULTS: The mean values of k were 0.19±0.04 h-1 and 0.28±0.06 h-1, of t1/2 3.56±0.73 h and 2.45±0.50 h, of Tmax 2.21±0.45 and 1.75±0.33 h, and of Xu0-24 5.65±0.98 and 2.95±0.62 μmoL for S-(-)- and R-(+)-propranolol glucuronide, respectively. The cumulative excretion percentages in urine of doses were 14.7±2.46% and 7.68±1.60% for S-(-)- and R-(+)-propranolol glucuronide, respectively. The results showed the elimination rate constant k of S-(-)-propranolol glucuronide was less than that of R-(+)-propranolol glucuronide; and the elimination half-life (t1/2), Tmax and the cumulative excretion amount(Xu0-24) of R-(+)-propranolol glucuronide were significantly less than that of S-(-)-propranolol glucuronide. CONCLUSION: The propranolol glucuronidation of the side-chain undergoes stereoselective excretion in Chinese Han population after an oral administration of racemic propranolol. PMID:15793873

  2. MTNR1B rs10830963 is associated with fasting plasma glucose, HbA1C and impaired beta-cell function in Chinese Hans from Shanghai

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    Qi Qibin

    2010-04-01

    Full Text Available Abstract Background Genome-wide association studies (GWAS in White Europeans have shown that genetic variation rs10830963 in melatonin receptor 1B gene (MTNR1B is associated with fasting glucose and type 2 diabetes, which has also been replicated in several Asian populations. As a variant in the gene involved in the regulation of circadian rhythms, the effect of the variant on sleep status remains unknown. This study aimed to investigate the effects of MTNR1B rs10830963 on fasting glucose, type 2 diabetes and sleep status in Chinese Hans. Methods MTNR1B rs10830963 was genotyped in a population-based cohort including 3,210 unrelated Chinese Hans from Beijing and Shanghai, and tested for associations with risk of type 2 diabetes, diabetes-related traits and sleep status. Results We confirmed the associations of MTNR1B rs10830963 with fasting glucose (beta = 0.11 mmol/l, 95%CI [0.03, 0.18], P = 0.005, glycated hemoglobin (HbA1c (beta = 0.07%, 95%CI [0.02,0.12], P = 0.004 and homeostasis model assessment of beta-cell function (HOMA-B (beta = -5.01%, 95%CI [-8.24,-1.77], P = 0.003 in the Shanghai, but not in the Beijing subpopulation (P ≥ 0.58. The effect size of MTNR1B rs10830963 on fasting glucose in Shanghai Chinese Hans was comparable to that reported from other Asian populations. We found no evidence of associations with type 2 diabetes (OR 1.05 [0.90-1.23], P = 0.54, homeostasis model assessment of insulin sensitivity (HOMA-S (P = 0.86 or sleep status (P ≥ 0.44. Conclusions A common variant in MTNR1B was associated with fasting glucose, HbA1C and HOMA-B but not with sleep status in Chinese Hans from Shanghai, strengthening the role of MTNR1B rs10830963 in fasting glycemia and impaired beta-cell function.

  3. 白细胞介素6-572G/C基因多态性与中国东北地区汉族人群偏头痛相关性研究%Associations of interleukin 6-572G/C gene polymorphism with migraine in a Chinese northeastern Han population

    Institute of Scientific and Technical Information of China (English)

    林湘; 何秋; 徐佳亮; 王凤志; 陈薇; 李超; 王军伟

    2015-01-01

    目的 探讨白细胞介素(interleukin,IL)-6单核苷酸基因多态性与中国东北地区汉族人群偏头痛及其亚型之间的相关性.方法 收集2012年3月至2013年6月辽宁省人民医院确诊的偏头痛发作期的患者252例,均为中国东北地区汉族人群.同时收集同期的健康体检者及辽宁省人民医院任职的健康职工270名,采用病例对照研究的方法,应用聚合酶链式反应技术及基因测序技术检测偏头痛组[252例;包括无先兆偏头痛(M0)组(168例)和有先兆偏头痛组(84例);男性组(109例)和女性组(143例)]与对照组[270名;包括男性组(116名)和女性组(154名)]及二者的亚组中IL-6-572G/C(rs1800796)位点的基因型及等位基因的频率分布.结果 IL-6-572G/C位点C/C基因型和C等位基因频率在偏头痛组与对照组间的分布差异均有统计学意义[32.54% (82/252)与19.63% (53/270),x2=12.061,P =0.002;55.56% (280/504)与45.37% (245/540),x2=10.818,P=0.001];C/C基因型和C等位基因频率在偏头痛组与对照组的亚组女性组间进行比较,其分布差异仍有统计学意义[21.83% (55/252)与12.59%(34/270),x2=10.187,P=0.006;33.73%(170/504)与26.48% (143/540),x2=10.073,P=0.002].MO组与对照组的C/C基因型和C等位基因频率分布差异具有统计学意义[24.60% (62/252)与19.63% (53/270),x2=18.172,P=0.000;39.88% (201/504)与45.37% (245/540),x2=17.307,P=0.000].对该位点的C/C基因型频率分布差异进行条件Logistic回归校正后,在偏头痛组与对照组中差异仍有统计学意义(OR=22.861,95% CI5.218 ~27.098,P=0.023).结论 IL-6-572G/C位点基因多态性与中国东北地区汉族人群偏头痛发作相关,C/C基因型提高了中国东北地区汉族人群偏头痛的易患性.%Objective To investigate the associations of a single-nucleotide polymorphisms (SNPs) in the interleukin (IL)-6 gene with the migraine of a Han Chinese northeastern population.Methods We collected 252

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

    Science.gov (United States)

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

    2016-01-01

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

  5. 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.

  6. Dynamic mutation analysis of a SCA3 Chinese Han family and prenatal diagnosis

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    LI Jing

    2012-06-01

    Full Text Available Objective To explore the clinical features, genetic characters and the importance of prenatal diagnosis in spinocerebellar ataxia 3 (SCA3 patients. Methods SCA3/ATXN3 gene was determined by using PCR and segmental analysis techniques in 2 patients among a SCA3 Chinese Han family which included 9 patients in four generations. One patient was the proband's fetus. The clinical characters were also documented and analyzed in this family. Results There were 9 patients in this family with autosomal dominant inheritance feature. The initial symptoms in all affected members except the fetus were the gait disorders accompanied by dysphasia. Inability of upward gaze and bilateral Barbinski's signs were noted in proband. The onset age became earlier from generation to generation in this family which was around 50 year-old, 40 to 45 year-old, 28 year-old in generation Ⅰ, Ⅱ and Ⅲ, respectively. CAG repeats in SCA3/ATXN3 allele were 77 in proband, as well as in the fetus, while the normal SCA3/ATXN3 allele CAG repeats were less than 44. Conclusion SCA3 is the most frequent subtype of SCA in Asian. Unsteadiness of gait are first noted in most patients accompanied by other different symptoms and signs. Genetic anticipation was found in SCA3. But gene analysis revealed less dynamic mutation frequence in this family. Since there was no effective treatment in SCA3, hereditary consultation and prenatal diagnosis play an important role in disease prevention and hereditary.

  7. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  9. Analysis of interleukin-8 gene variants reveals their relative importance as genetic susceptibility factors for chronic periodontitis in the Han population.

    Science.gov (United States)

    Zhang, Nan; Xu, Yuehong; Zhang, Bo; Zhang, Tianxiao; Yang, Haojie; Zhang, Bao; Feng, Zufei; Zhong, Dexing

    2014-01-01

    Interleukin (IL)-8, an important chemokine that regulates the inflammatory response, plays an important role in periodontitis. Previous studies indicate that certain IL-8 gene polymorphisms are associated with periodontitis susceptibility in some populations. However, the literature is somewhat contradictory, and not all IL-8 polymorphisms have been examined, particularly in Han Chinese individuals. The aim of this study was to investigate the association of every IL-8 SNP with chronic periodontitis in Han Chinese individuals. We analyzed 23 SNPs with minor allele frequency (MAF)≥0.01, which were selected from 219 SNPs in the NCBI dbSNP and preliminary HapMap data analyses from a cohort of 400 cases and 750 controls from genetically independent Han Chinese individuals. Single SNP, haplotype and gender-specific associations were performed. We found that rs4073 and rs2227307 were significantly associated with chronic periodontitis. Further haplotype analysis indicated that a haplotype block (rs4073-rs2227307-rs2227306) that spans the promoter and exon1 of IL-8 was highly associated with chronic periodontitis. Additionally, the ATC haplotype in this block was increased 1.5-fold in these cases. However, when analyzing the samples by gender, no significant gender-specific associations in IL-8 were observed, similar to the results of haplotype association analyses in female and male subgroups. Our results provide further evidence that IL-8 is associated with chronic periodontitis in Han Chinese individuals. Furthermore, our results confirm previous reports suggesting the intriguing possibilities that IL-8 plays a role in the pathogenesis of chronic periodontitis and that this gene may be involved in the etiology of this condition.

  10. Study of Correlation between Genetic Polymorphism of Brain-Derived Neurotrophic Factor and 90-day Out-come of Ischemic Stroke in Chinese Han Population%脑源性神经生长因子的基因多态性与中国汉族人群缺血性卒中90天预后的相关性研究

    Institute of Scientific and Technical Information of China (English)

    赵静; 吴慧; 翁迎峰

    2015-01-01

    assessed at the admission day with the National Institutes of Health Stroke Severity Scale (NIHSS).On post-infarction 3-month follow-up,the neural function recovery of patients was as-sessed with the modified Rankin Scale (mRS).Results:The frequency of genotype AA at BDNF gene G196A in IS group was higher than that in control group,and the difference was statistically significant(P <0.05).There was no significant difference with regard to the genotype at BDNF gene G196A and the allele frequency between the mild patients and the severe patients (P =0.800).According to the outcomes on post-discharge 90-day follow-up,the relative risk of poor outcome in patients with genotype AA at BDNF gene G196A to that in patients with genotype GG at BDNF gene G196A was 0.046 (P =0.008,OR =0.406,95%CI :203-0.813).After the other risk factors had been adjusted with logistic regression method,the correlation was still significant(P =0.012,OR = 2.134,95%CI :1 .1 78-3.866).Conclusions:Perhaps there was no association between the polymorphism of BDNF gene G196A and the severity of neural function defect during acute phase of IS in Chinese Han popula-tion.The presence of genotype GA+AA at BDNF gene G196A was associated with much poorer outcome in patients with IS. Allele A might be the independent bioindicator of poor outcome of IS in Chinese Han population.

  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. The chronological age estimation of third molar mineralization of Han population in southwestern China.

    Science.gov (United States)

    Qing, Maofeng; Qiu, Lihua; Gao, Zhi; Bhandari, Kishor

    2014-05-01

    The purpose of the study was to estimate the chronology of third molar mineralization in Han population of southwestern China and find its unique characteristics so that it would provide a reference in several legal cases like forensic age estimation. The study used Demirjian's staging method to study 2192 orthopantomograms of 984 male and 1208 female subjects aged between 8 and 25 years. The statistical data was analyzed by Student's t test and ANOVA. The conclusions of the study are: (1) The chronological mineralization age of third molars of Han population in Southwestern China is similar to the Turkish and the Japanese, was earlier than the Austrian and Han of South China, but later than the Spanish. (2) The mineralization timing of the third molars between two sides in maxilla or mandible has no significant differences in the same gender group. (3) There is no significant difference in mineralization of third molars between male and female, except for tooth 48 in Demirjian's stage E. (4) The mineralization of third molar in maxilla is earlier than mandible.

  13. LMX1A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%Association of LMX1A gene polymorphisms with susceptibility to congenital scoliosis in a Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    费琦; 吴志宏; 王以朋; 周熹; 王海; 李想; 邱贵兴

    2011-01-01

    BACKGROUND: Congenital scoliosis (CS) is caused by the abnormal development of embryonic spinal vertebrae, and its geneticetiology hypothesis has begun to attract the attention of many scholars.OBJECTIVE: To investigate whether polymorphisms of LMX1A gene are associated with CS in a Chinese Han population, andfurther, to study the relationship between polymorphisms of LMX1A and the clinical phenotypes of CS.METHODS: A total of 127 patients diagnosed with CS and the scoliosis-free control subjects (127 cases) were enrolled in thisstudy. Genomic Based on genotype data from the International HapMap project, the key single nucleotide polymorphisms (SNPs)initially were selected using Haploview 4.1 software. Hardy-Weinberg equilibrium both in control and in case groups was analyzed.Case group were classified into different clinical phenotypes according to vertebral defect type, the location of deformity, the extentof developmental disruption, combined rib malformations and neural canal deformity. Genotying of all selected SNPs was done bySNPstream technology (Beckman Coulter SNPstream). All the data of SNPs with polymorphism are analyzed by the associationanalysis based on a single SNP. And pairwise linkage disequilibrium wa s calculated in the control population using Haploview 4.1software.RESULTS AND CONCLUSION: Six SNPs of LMX1A gene (SNP1: rs1819768, SNP2: rs12023709, SNP3: rs16841013, SNP4:rs4656435, SNP5: rs4657412, SNP6: rs4657411) were genotyped and all polymorphisms were in Hardy-Weinberg equilibriumboth in control and in case groups. The single locus analysis revealed the genotype distributions of SNP1 and SNP2 werestatistically significantly different between case patients and control subjects (P=0.026 and P=0.026). In the unconditional logisticregression analysis, SNP1 and SNP2 both showed significant difference in both Ressessive model (OR=0.38; 95%CI=0.15-0.94)and overdominant model (OR=1.73; 95%CI=1.05-2.8), and the P values were 0.029 and 0

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

    Science.gov (United States)

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

    2015-01-01

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

  15. 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

  16. RNASET2基因多态性与山东沿海地区汉族人Graves病的相关性%Association of RNASET2 gene polymorphisms and haplotypes with Graves disease in Han Chinese population from coastal regions of Shandong

    Institute of Scientific and Technical Information of China (English)

    王宝苹; 韩琳; 佟晶洁; 王燕; 贾兆通; 孙明霞; 王海丽

    2013-01-01

    目的 探讨中国山东沿海地区汉族人群RNASET2基因多态性位点(single nucleotide polymorphism,SNP)与Graves病(Graves disease,GD)的相关性.方法 应用TaqMan探针技术在Fluidigm EP1平台上对471例Graves病患者和472名健康对照者的标签SNP进行基因分型并构建单倍型.结果 rs3777722、rs3777723和rs9355610等位基因频率在GD组和对照组中差异有统计学意义(P=0.018;P=0.028;P=0.021).GD组携带rs3777722-A等位基因频率显著偏低(P=0.018),且rs9355610-A等位基因频率显著偏低(P=0.021).rs3777722的3种基因型A/A、A/C、C/C,以及rs9355610的3种基因型A/A、A/G、G/G在两组中分布显著不同(P=0.035,P=0.018).A-A-C-A和A-A-T-A单倍型频率在对照组明显高于GD组,差异有统计学意义(P=0.046,OR=0.448,95%CI:0.200~1.006;P=0.049,OR=0.823,95%CI:0.678~0.999),而C-G-C-G单倍型频率在GD组明显高于对照组(P=0.018),该单倍型发生GD的风险增加1.257倍(95%CI:1.040~1.520);其他单倍型在两组间的分布差异无统计学意义.结论 RNASET2基因多态性及单倍型与山东沿海地区汉族人GD的发生相关,rs3777722和rs9355610是GD发病的易感位点.%Objective To assess the association of RNASET2 gene polymorphisms and haplotypes with Graves disease (GD) in Han Chinese population from coastal regions of Shandong Province.Methods A total of 471 GD patients and 472 controls were enrolled.Genotypes of single nucleotide polymorphisms (SNPs) in RNASET2 gene were determined with a Taqman probe on a Fluidigm EP1 platform.Haplotypes and their frequencies were analyzed with a SHEsis online software.Results There was a significant difference in allele frequencies of rs3777722,rs3777723 and rs9355610 between the GD patients and the controls (P =0.018; P =0.028; P =0.021).Allele frequencies of rs3777722 and rs9355610 were significantly lower in GD than in the controls (P=0.018,P=0.021).Haplotypes A-A-C-A and A-A-T-A were significantly more common in the

  17. Association of OPG gene single nucleotide polymorphisms with susceptibil-ity to rheumatoid arthritis in Chinese Han population%骨保护素基因单核苷酸多态性与类风湿关节炎发病的相关性研究

    Institute of Scientific and Technical Information of China (English)

    蔡月明; 龙霞; 王庆文; 王菁; 吴志成; 王伟光; 曾慧萍; 张璐

    2014-01-01

    目的:探讨骨保护素(OPG)基因163A/G及245T/G单核苷酸多态性(SNPs)与我国汉族人群类风湿关节炎( RA)发病的相关性。方法:采用聚合酶链反应-限制性片段长度多态性( PCR-RFLP)技术检测我国南方汉族正常人群及RA患者的OPG 163A/G和245T/G 2个SNP位点;进行Hardy-Weinberg平衡检验;计算基因型和等位基因频率,及这2个位点的连锁关系,并分析这2个SNP位点与RA的关系。结果:所研究基因分布符合Har-dy-Weinberg平衡,163A/G位点基因型AA、AG、GG分布频率在2组比较有显著差异( P<0.05);等位基因A、G分布比较在2组有显著差异(P<0.05),携带163GG基因型者发生RA的危险性是非携带者的1.219倍(OR=1.219,95%CI:1.066~2.339, P<0.05)。但245T/G位点各基因型及等位基因频率在2组中均未见差异(P>0.05)。结论:OPG基因163A/G SNP可能与我国汉族人群RA发病相关,携带G等位基因可能是发病的危险因素。%AIM: To investigate the association of osteoprotegerin ( OPG) gene single nucleotide polymor-phisms (SNPs), 163A/G (rs3102735) and 245T/G (rs3134069), with susceptibility to rheumatoid arthritis (RA) in Chinese Han population .METHODS:A total of 205 patients with RA and 171 healthy control subjects were enrolled into this study.Genotyping was performed by polymerase chain reaction-based restriction fragment length polymorphism and subsequently confirmed by DNA sequencing .Odds ratio ( OR) and 95%confidence intervals ( CI) were calculated for the risk genotypes and alleles .RESULTS: OPG gene polymorphisms 163A/G and 245T/G were conformed to the Hardy-Weinberg equilibrium .The statistical differences in the genotypes of AA , AG and GG at 163A/G locus were found in RA and controls.The G allele was associated with an increased risk of RA , with OR of 1.219 (95%CI:1.066~2.339).No significant difference was observed between RA group and

  18. 中国汉族人群Ghrelin基因单核苷酸多态性与精神分裂症关联研究%The association study of Ghrelin gene polymorphisms with the susceptivity of schizophrenia in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    杨勇锋; 吕路线; 李文强; 岳伟华; 张红星; 宋学勤; 于洪岩; 张岱; 杨鸽; 赵晶媛

    2011-01-01

    Objective To investigate the potential association of Ghrelin(GHRL)gene polymorphisms susceptible to schizophrenia by case-control study.Methods Six hundred and thirty-four patients,six hundred and six healthy control subjects were recruited.Four SNPs rs696217,rs26802,rs27647 and rs26311 were detected by the polymerase chain reaction-based-restriction fragment length polymorphism analysis.Results No significant differences in genotype or allele frequencies of the four SNPs were observed between schizophrenic patients and healthy controls (Pvalues of genotype frequencies were 0.649,0.944,0.410,0.826;P values of allele frequencies were 0.773,0.992,0.301,0.723).However,seven haplotypes(GAAG,GAGC,GAGG,GCGC,GCGG,TAGC,TAGG)showed significant differences in frequency between schizophrenic and control groups(P values were 0.011,0.001,1.76×10-6,9.84×10-10,1.38×10-9,2.12×10-5,2.57×10-6).Conclusion These data suggest that the GHRL gene may not be associated with susceptibility to schizophrenia in the Chinese Han population.However,the haplotype of GA may be the susceptive factor of schizophrenia.%目的 探讨Ghrelin(GHRL)基因单核甘酸多态性与精神分裂症的关联.方法 纳入634例精神分裂症患者和606例健康对照,采用限制性片段长度多态性和聚合酶链反应技术检测GHRL基因4个SNP位点rs696217、rs26802、rs27647和rs26311基因型.结果 GHRL基因4个单核甘酸多态位点基因型和等位基因频率在病例组和对照组中的分布差异均无显著性(基因型频率P值分别为0.649,0.944,0.410,0.826;等位基因频率P值分别为0.773,0.992,0.301,0.723).而病例组与对照组的单体型(rs696217-rs26802--rs27647-rs26311))分析:GAAG、GAGC、GAGC、GCGG、GCGG、TAGC、TAGG单体型频率的差异均存在显著性(P值分别为0.011,0.001,1.76×10-6,9.84×10-10,1.38×10-9,2.12×10-5,2.57×10-6).结论 GHRL基因可能不是精神分裂症的易感基因,但GA单体型可能是精神分裂症的易感因素.

  19. Association analysis between N-acylsphingosine amidohydrolase gene and symptom quantitative trait of schizophrenia in Chinese Han population%酸性神经酰胺酶基因与精神分裂症症状数量性状的关联研究

    Institute of Scientific and Technical Information of China (English)

    张怀惠; 崔东红; 朱紫青; 江开达; 江三多

    2008-01-01

    目的 探讨酸性神经酰胺酶基因(ASAH1)与精神分裂症症状数量性状的关联.方法 应用聚合酶链反应及限制性片段长度多态性技术,对254例精神分裂症患者ASAH1基因的3个单核苷酸多态性(rs3753118、rs3753116及rs7830490)进行检测;使用阳性和阴性症状量表(PANSS)评定患者疾病表型的数量性状.结果 (1)患者rs3753118位点3种基因型间的阳性症状分的差异有统计学意义(F=3.506,P<0.05);rs3753116位点3种基因型间的PANSS总分及阴性症状分的差异均有统计学意义(F=3.548,P<0.05;F=3.358,P<0.05).经两两比较,rs3753118位点C/C基因型组患者的阳性症状分及一般精神病理分明显高于C/T基因型组患者;rs3753116位点G/G基因型组患者的PANSS总分及阴性症状分明显高于A/G基因型组患者,且G/G基因型组患者的阴性症状分明显高于A/A基因型组患者,差异均有统计学意义(P均<0.05).(2)患者3个位点各等位基因间的PANSS量表评分的差异无统计学意义(P>0.05).(3)患者rs3753118C-rs3753116G单体型者及rs3753118C-rs3753116G-rs7830490A单体型者,其PANSS总分及阴性症状分均明显高于参照单体型者,差异均有统计学意义(P均<0.05).结论 ASAH1基因区域可能存在精神分裂症症状数量性状位点.%Objective To explore the association between N-acylsphingosine amidohydrolase(ASAHl)gene and symptom quantitative trait of schizophrenia in Chinese Han Population.Methods Three polymorphic markers(rs3753118,rs3753116 and rs7830490)in ASAH1 gene were genotyped with polymerase chain reaction and restriction fragment length polymorphism in 254 schizophrenic patients.The Positive and Negative Syndrome Scale (PANSS) was used to quantify the phenotypes of schizophrenia.Results (1)There were significant difierence in the positive subseale score among patients with different genotypes of rs3753118(F=3.506,P0.05).(3)The PANSS total score and the negative score in patients with rs

  20. Effects of alcohol consumption and other lifestyle behaviors on blood pressure for the middle-aged and elderly in the Guangxi Hei Yi Zhuang and Han populations.

    Science.gov (United States)

    Yin, Ruixing; Li, Hui; Wu, Jinzhen; Lin, Weixiong; Yang, Dezhai; Pan, Shangling; Huang, Jiandong; Long, Xiuyan

    2007-12-01

    Han is the largest group and Zhuang is the largest minority among the 56 ethnic groups in China. Geographically and linguistically, Zhuang can be classified into 43 ethnic subgroups, in which Hei Yi Zhuang is proved to be the most conservative subgroup. Little is known about the relationship between alcohol consumption and blood pressure levels in this population. Therefore, the present study was undertaken to compare the effects of alcohol consumption and other lifestyle behaviors on blood pressure levels for the middle-aged and elderly in the Guangxi Hei Yi Zhuang and Han populations. A total of 657 subjects of Hei Yi Zhuang aged 40 and older were surveyed by a stratified randomized cluster sampling. Information on demography, diet, and other lifestyle factors was collected by standard questionnaires. Anthropometric parameters and serum lipid levels were also obtained in all subjects. The results were compared with those in 520 participants of Han Chinese from the same region. The levels of systolic blood pressure and pulse pressure in Hei Yi Zhuang were higher than those in Han (P sodium intake, educational level, physical activity, and even genetic factors.

  1. Relationship of glutathione S-transferase M1 and T1 polymorphisms with the susceptibility of primary angle-closure glaucoma of Chinese Han population in Chongqing%GSTT1和GSTM1基因多态性与重庆地区汉族人群中原发性闭角型青光眼易感性的关系

    Institute of Scientific and Technical Information of China (English)

    陈瑾; 侯胜平; 高小劲; 胡泊; 李平华

    2013-01-01

    Objective To investigate the relationship of genetic polymorphisms of glutathione S-trans-ferase M1 (GSTM1),and glutathione S-transferase T1 (GSTT1) with the susceptibility of primary angleclosure glaucoma in Chinese Han population.Methods Blood samples were collected from 211 Han patients with primary angle-closure glaucoma (PACG) and 422 health volunteers (control),and the 211 PACG patients were separated into an acute PACG (APACG) group and a chronic PACG (CPACG) group according to diagnostic criteria.Furthermore,multiple allele-specific polymerase chain reaction (multiplex PCR) was employed to detect the genetic polymorphisms of GSTT1 and GSTM1.Results The distribution frequencies of GSTT1null genotype were 53.1% and 53.8% in the PACG group and control group,respectively,but no significant difference was found (Chi square =0.028 6,P =0.866).Furthermore,the distribution frequencies of GSTT1-null genotype in the APACG group and CPACG group were 46.3% and 55.4%,respectively,which were not significantly different from that of the control group (Chi square =0.126 7,P =0.722; Chi square =0.036 2,P =0.849).The distribution frequencies of GSTM1-null genotype were 58.3% and 56.3% in the PACG group and control group,respectively,but no significant difference was found (Chi square =0.206 3,P =0.650).The distribution frequencies of GSTM1 were 61.1% and 56.3% in the APACG group and CPACG group,respectively,but no significant difference was found as compared with the control group (Chi square =0.027 9,P =0.867 ; Chi square =0.006 4,P =0.936).Moreover,the combined analysis of GSTT1 and GSTM1 genotypes showed that no significant difference was found in comparison of the four genotypes of GSTT1 and GSTM1 between the PACG (APACG and CPACG) group and control group.Conclusion In Han population with PACG in Chongqing area of China,no relationship is found between the null genotypes of GSTT1 and GSTM1 and PACG susceptibility,and the correlation of genetic

  2. Genome-wide association study of treatment refractory schizophrenia in Han Chinese.

    Directory of Open Access Journals (Sweden)

    Ying-Jay Liou

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

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

    Science.gov (United States)

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

    2015-05-01

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

  4. Identification of new susceptibility loci for IgA nephropathy in Han Chinese.

    Science.gov (United States)

    Li, Ming; Foo, Jia-Nee; Wang, Jin-Quan; Low, Hui-Qi; Tang, Xue-Qing; Toh, Kai-Yee; Yin, Pei-Ran; Khor, Chiea-Chuen; Goh, Yu-Fen; Irwan, Ishak D; Xu, Ri-Cong; Andiappan, Anand K; Bei, Jin-Xin; Rotzschke, Olaf; Chen, Meng-Hua; Cheng, Ching-Yu; Sun, Liang-Dan; Jiang, Geng-Ru; Wong, Tien-Yin; Lin, Hong-Li; Aung, Tin; Liao, Yun-Hua; Saw, Seang-Mei; Ye, Kun; Ebstein, Richard P; Chen, Qin-Kai; Shi, Wei; Chew, Soo-Hong; Chen, Jian; Zhang, Fu-Ren; Li, Sheng-Ping; Xu, Gang; Tai, E Shyong; Wang, Li; Chen, Nan; Zhang, Xue-Jun; Zeng, Yi-Xin; Zhang, Hong; Liu, Zhi-Hong; Yu, Xue-Qing; Liu, Jian-Jun

    2015-06-01

    IgA nephropathy (IgAN) is one of the most common primary glomerulonephritis. Previously identified genome-wide association study (GWAS) loci explain only a fraction of disease risk. To identify novel susceptibility loci in Han Chinese, we conduct a four-stage GWAS comprising 8,313 cases and 19,680 controls. Here, we show novel associations at ST6GAL1 on 3q27.3 (rs7634389, odds ratio (OR)=1.13, P=7.27 × 10(-10)), ACCS on 11p11.2 (rs2074038, OR=1.14, P=3.93 × 10(-9)) and ODF1-KLF10 on 8q22.3 (rs2033562, OR=1.13, P=1.41 × 10(-9)), validate a recently reported association at ITGAX-ITGAM on 16p11.2 (rs7190997, OR=1.22, P=2.26 × 10(-19)), and identify three independent signals within the DEFA locus (rs2738058, P=1.15 × 10(-19); rs12716641, P=9.53 × 10(-9); rs9314614, P=4.25 × 10(-9), multivariate association). The risk variants on 3q27.3 and 11p11.2 show strong association with mRNA expression levels in blood cells while allele frequencies of the risk variants within ST6GAL1, ACCS and DEFA correlate with geographical variation in IgAN prevalence. Our findings expand our understanding on IgAN genetic susceptibility and provide novel biological insights into molecular mechanisms underlying IgAN.

  5. Distribution of hairs in Chinese Han nationality%中国汉族人头皮毛发分布研究

    Institute of Scientific and Technical Information of China (English)

    王冠; 苗勇; 冯传波; 胡志奇

    2012-01-01

    Objective To evaluate the normal distribution of hairs in Chinese Han. Methods A total of 146 healthy Chinese Han and 41 Chinese with androgenetic alopecia (AGA)were enrolled in the study. Three areas were shaved on each part of healthy Chinese Han scalp, including the occipital, frontal, and temporal scalp. The number of hairs and follicular units were counted by two technicians in front of a computer screen using a digital camera. Results In healthy Chinese Han scalp, an average (74.36 ± 13.33)FUs/cm2 and (143.33 ± 28.08)hairs/cm2 were calculated, and there were no significant differences between male and female (P 〉 0.05). In AGA patients, an average of (77.78 ± 2.99) FUs/cm2 and (148.12 ± 6.98 )hairs/cm2 was found, which was less than that of the occipital scalp in healthy Chinese Han. Two-hair FUs are the predominate group (52.62%) in healthy Chinese Han. Conclusions We found the average number of FUs and hairs was less than that in Caucasians and Africans. Our results could provide the hair surgeon with general information about hair distribution and a quantitative basis of transplanting density for hair transplantation operation. Our study provide some theoretical data for hair division characteristics in Chinese Han people and help hair transplant physicians in preoperative evaluation, operation design and postoperative effect evaluation.%目的:探讨中国汉族人头发正常分布的特点.方法:本研究共入组了146例健康中国汉族人以及41例雄激素性秃发患者,将头顶部、后枕部及颞部3个区域的头发修剪后进行数码拍照,利用图像分析软件计算毛囊单位数及毛发数.结果:146例中国健康汉族人平均毛囊单位密度为(74.36±13.33)个/cm2,平均毛发密度为(143.33±28.08)根/cm2,男女之间无统计学差异(P>0.05).秃发患者后枕部平均毛囊单位密度为(77.78±2.99)个/cm2,平均毛发数为(148.12±6.98)根/cm2,低于健康汉族人后枕部,差异有统计学意义(P< 0

  6. Association of Single Nucleotide Polymorphisms of NBS1 Gene With Genetic Susceptibility to Primary Liver Cancer in a Chinese Han Population%NBS1基因SNPs与中国汉族人群原发性肝癌的遗传易感性

    Institute of Scientific and Technical Information of China (English)

    黄坚; 赵艳平; 李倩; 张俊霞; 王岩; 张蓓

    2012-01-01

    . These results suggest that the NBSJ SNP 1197T>C may be associated with the risk of primary liver cancer in the Chinese Han population. High resolution SSCP analysis, with the same accuracy as direct sequencing in the genotyping of NBSJ SNPs and.easier to handle, is suitable for the genotyping of multiple known SNPs in large scale cohort study.%为分析DNA损伤修复相关基因NBS1单核苷酸多态性(SNPs)与原发性肝癌遗传易感性的关系,并对高分辨率单链构象多态性(SSCP)检测技术在SNPs分型中的适用性进行评估,本研究对来自中国汉族人群的327例原发性肝癌以及295例阴性对照中NBS1基因常见SNPs的稀有等位基因频率进行检测和分析.此外,对NBS1基因6个常见SNPs分别选择部分样本同时进行直接序列测定,以比较2种方法的检测效果.119例原发性肝癌以及95例肝硬化/慢性肝炎组织标本的SSCP分析结果表明,6个常见NBS1基因SNPs位点(102G>A,320+208G/A,553G>C,1197T>C,2016A>G和2071-30A>T)中,SNP 1197T>C的稀有等位基因频率为68.1%,显著高于肝硬化/慢性肝炎对照的57.9%(P=0.0298).对该SNP位点另外采用208份肝细胞癌和200份健康人群血液标本进一步分析,肝细胞癌SNP 1197T>C的稀有等位基因频率为66.8%,显著高于健康人群对照的58.8%(P=0.0170).其他5个SNPs的稀有等位基因频率在原发性肝癌与肝硬化/慢性肝炎之间均无显著性差异.高分辨率SSCP分析法与直接序列测定法对所选样本的SNPs基因分型结果完全一致,而且直接测序法对PCR扩增产物质量的要求相对高分辨率SSCP分析更高.研究表明,中国汉族人群NBS1基因SNP 1197T>C可能与原发性肝癌的发生相关,高分辨率SSCP技术准确度与直接测序法相当,且操作更加简便易行,非常适用于大量样本多个已知SNPs的基因分型.

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

    Directory of Open Access Journals (Sweden)

    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.

  8. 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

  9. Chinese Population and Environment Pressure

    Institute of Scientific and Technical Information of China (English)

    刘智慧

    2012-01-01

    China is typical country for the change of environment,which is the center area and pressure about population.It has 12 billion in 2000,which is the one fifth of the total world population.And humanists think the population will increase to 16 billion till zoos.Is has increase 7 billion between 1950 to 2000 that beyond the total number of the whole people at the be ginning of the industry reductions.The increasing of the huge population' s extrading which is area is nearly equal to the east of America,the Yangtze and the Huanghe valley.In the west of China it is filled with desert and mountain ranges,and the south it is limited to the resist of other civilization,while the population of agriculture is more and more dense that Our ancestors has till aged for thousands of years.In fact,China has already become an excessivepacked “island”.

  10. 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.

  11. Association of CYP1B1 Polymorphisms with Breast Cancer: A Case-Control Study in the Han Population in Ningxia Hui Autonomous Region, P. R. China

    OpenAIRE

    Haiyan Jiao; Chunlian Liu; Weidong Guo; Liang Peng; Yintao Chen; Martin, Francis L.

    2010-01-01

    Studies investigating possible associations between cytochrome P4501B1 (CYP1B1) polymorphisms and breast cancer risk have been inconsistent. We set out to ascertain whether there might be an association between polymorphisms in exon 2 (codon 119, G→T) and exon 3 (codon 432, G→C) of CYP1B1 and breast cancer in a Chinese Han population in the rural region of Ningxia. Using an allele-specific polymerase chain reaction method and direct DNA sequencing, the presence or absence of the two CYP1B1 po...

  12. JARID1A, JMY, and PTGER4 polymorphisms are related to ankylosing spondylitis in Chinese Han patients: a case-control study.

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    Wei Chai

    Full Text Available Susceptibility to ankylosing spondylitis (AS is largely genetically determined. JARID1A, JMY and PTGER4 have recently been found to be associated with AS in patients of western European descent. We aim to examine the influence of JARID1A, JMY, and PTGER4 polymorphisms on the susceptibility to and the severity of ankylosing spondylitis in Chinese ethnic majority Han population. This work can lead the clinical doctors to intervene earlier. Blood samples were drawn from 396 AS patients and 404 unrelated healthy controls. Both the AS patients and the controls are Han Chinese. The AS patients are classified based on the severity of the disease. Thirteen tag single nucleotide polymorphisms (tagSNPs in JARID1A, JMY and PTGER4 are selected and genotyped. Frequencies of different genotypes and alleles are analyzed among the different severity AS patients and the controls. The rs2284336 SNP in JARID1A, the rs16876619 and rs16876657 SNPs in JMY are associated with susceptibility of AS. The rs11062357 SNP in JARID1A, the rs2607142 SNP in JMY and rs10440635 in PTGER4 are related to severity of AS. Haplotype analyses indicate PTGER4 is related to susceptibility to AS; JARID1A and JMY are related to severity of AS.

  13. Insertion/Deletion Polymorphism in the Angiotensin Ⅰ-Converting Enzyme Gene and Risk of Progression of Diabetic Nephropathy in Noninsulin-dependant Diabetes Mellitus among the Han Chinese Population:A Meta-analysis%血管紧张素Ⅰ转换酶基因插入/缺失多态性与中国汉族2型糖尿病人群肾病发病风险相关性的Meta分析

    Institute of Scientific and Technical Information of China (English)

    彭少华; 陈婷; 李彩蓉; 陈勇

    2012-01-01

    目的 评价血管紧张素Ⅰ转换酶(ACE)基因插入/缺失(I/D)多态性与中国汉族2型糖尿病人群发生肾病风险的相关性.方法 由两名评价者独立采用计算机检索中国生物医学文献数据库、中国期刊全文数据库、中文科技期刊全文数据库和万方数据库中的ACE基因I/D多态性与糖尿病肾病(DN)的病例对照研究,检索时间范围均为1994-01-01-2011-03-10.对符合纳入标准的研究进行纳入研究质量及数据提取后,采用RevMan5.1.6软件进行Meta分析.结果 共纳入24项病例对照研究,共3 206例患者.Meta分析结果显示,中国汉族人群携带至少1个I等位基因可以降低38%的DN发生风险[OR=0.62,95%CI(0.52,0.75),P<0.00001];携带含有I等位基因的基因型能够使发生DN的风险降低45%[OR=0.55,95%CI(0.44,0.69),P<0.00001];携带含有D等位基因的基因型能够使发生DN的风险增加1.74倍[OR=1.74,95%CI(1.30,2.31),P=0.0002].敏感性分析表明结果稳健性均较好.结论 ACE基因I/D多态性与中国汉族2型糖尿病人群肾病易感性密切相关,D等位基因可能是易感基因,I等位基因可能是保护基因,但仍需进一步论证.%Objective To evaluate the relationship between the insertion/deletion ( I/D ) polymorphism in the angiotensin I - converting enzyme ( ACE ) gene and risk of the progression of diabetic nephropathy ( DN ) in noninsulin dependant diabetes mellitus ( NIDDM ) among the Han Chinese population. Methods Case - control studies of ACE gene I/D polymorphism and DN among the Han Chinese population that were published from January, 1994 to March, 2011 were indepently searched by two reviewers in databases including CNKI, CBM, VIP, and Wanfang. After having assessed the quality of these studies, we performed a meta - analysis using RevMan 5. 1. 6 software. Results A total of 24 case - control studies involving 3 206 patients met the inclusion criteria. Meta - analysis showed that, in the NIDDM subjects

  14. 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.

  15. Type 2 Diabetes Risk Allele UBE2E2 Is Associated With Decreased Glucose-Stimulated Insulin Release in Elderly Chinese Han Individuals.

    Science.gov (United States)

    Xu, Kuanfeng; Jiang, Lin; Zhang, Mei; Zheng, Xuqin; Gu, Yong; Wang, Zhixiao; Cai, Yun; Dai, Hao; Shi, Yun; Zheng, Shuai; Chen, Yang; Ji, Li; Xu, Xinyu; Chen, Heng; Sun, Min; Yang, Tao

    2016-05-01

    Recently, rs163182 in KCNQ1, rs7612463 in UBE2E2, rs7119 in HMG20A, and rs6815464 in MAEA were discovered as type 2 diabetes (T2D) loci unique to Asians, and rs13342692 in SLC16A11 were newly reported as T2D loci in multiethnicities by genome-wide association (GWA) studies. The aim of the present study is to ascertain the potential associations between these variants and T2D risk in the Chinese population, and characterize diabetic-related quantitative traits underlying these variants.A total of 4268 Chinese Han individuals (1754 patients with T2D and 2514 glucose-tolerant health subjects, age ≥40 years) were genotyped for these 5 variants. All the health individuals underwent an oral glucose tolerance test (OGTT), and measures of insulin release and sensitivity were estimated from insulinogenic, BIGTT, Matsuda, and disposition indices. The associations were determined by using logistic regression analysis.After adjustment for age, sex, and BMI, rs163182 in KCNQ1 (P = 0.002) and rs7612463 in UBE2E2 (P = 0.024) were found to be associated with T2D risk in Chinese Han population. The risk C allele of rs7612463 in UBE2E2 is associated with decreased IGI (P = 0.001), BIGTT-AIR (P = 0.002), CIR (P = 0.002), and DI (P = 0.006). The other 4 variants did not associate with insulin release or sensitivity.UBE2E2 rs7612463 may mediate its diabetogenic impact on insulin response, which highly depends on the impairment of β-cell function.

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

    Science.gov (United States)

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

    2012-06-01

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

  17. [Studies of DNA polymorphism at D7S21 locus in Hebei Han population].

    Science.gov (United States)

    Cong, Bin; Chai, Yang-Cheng; Guo, Xiao-Qing; Peng, Yu-Cong; Yao, Yu-Xia; Wang, Jun-Xia; You, Hong-Yu

    2002-05-01

    To study the polymorphism at D7S21 locus in Hebei Han population, 124 unrelated individuals were detected rapidly by Minisatellite Variant Repeat-Polymerase Chain Reaction (MVR-PCR) and polyacrylamide gradient gel electrophoresis followed by silver staining,and digital codes were obtained. About 36 digital codes were obtained from each individual. No two unrelated individuals shared the same codes. The probability of identity in 36 digital codes was 3.48 x 10(-18). The percentage of three repeat units, a-type, t-type and 0-type was 48.5%, 49.4% and 2.1% respectively. The heterozygosity (H), excluding probability of paternity (EPP)and polymorphism information content (PIC) were 0.9876, 0.9746 and 0.9872 respectively. The results suggested that D7S21 locus has highly polymorphism in Hebei Han population. The method-polyacrylamide gradient gel electrophoresis followed by silver staining was simple,rapid and practical.

  18. Association between fifteen risk factors and progressing ischemic stroke in the Han population of northeast China

    Institute of Scientific and Technical Information of China (English)

    YANG Shan-shan; TENG Da; YOU Ding-yun; SU Zhi-qiang; LI Fang; ZHAO Ji-yang

    2010-01-01

    Background The mortality and disability associated with progressing ischemic stroke are much higher than general ischemic stroke. This study was conducted to determine the risk factors for progressing ischemic stroke in the Han population of northeast China.Methods A total of 2511 patients with ischemic stroke within 24 hours admitted to Department of Neurology, First Affiliated Hospital of Harbin Medical University were studied, from November 2007 to May 2009. All of the patients were classified into the progressing or non-progressing group according to the scores of the Scandinavian Neurological Stroke Scale. Fifteen putative risk factors were evaluated. The influence of risk factors for progressing ischemic stroke was analyzed with the simple Logistic analysis, the multiple Logistic analysis, and the stepwise Logistic regression model. All the statistical analysis was performed by SAS 9.1.Results Totally 359 (14.3%) patients met the criteria for progressing ischemic stroke. The Logistic analysis showed that age, family stroke history, smoking history, hypertension on admission, a drop in blood pressure after admission to the hospital, high serum glucose on admission, and fever were related to progressing ischemic stroke in the Han population of northeast China.Conclusion People of the ischemic stroke with these factors are more likely to develop progressing ischemic stroke.

  19. 基于常见遗传变异和传统风险因素的中国南方汉族人群结直肠癌风险预测模型研究%Risk prediction of colorectal cancer with common genetic variants and conventional non-genetic factors in a Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    李娇元; 常江; 朱颖; 杨洋; 龚雅洁; 柯俊涛; 娄娇; 钟荣; 龚静

    2015-01-01

    Objective To understand the association between multiple genetic loci identified by genome-wide association studies (GWASs) and colorectal cancer (CRC) risk,and whether these genetic factors,along with traditional risk factors,could contribute to the colorectal cancer risk prediction in a Chinese Han population.Methods A case-control study (1 066 CRC cases and 3 880 controls) was initially conducted to assess the association between 21 recently discovered singlenucleotide polymorphisms (SNPs) and CRC risk.Genetic risk score (GRS) and weighted genetic risk score (wGRS) were calculated to evaluate the joint effects of selected loci.Multiple models combining genetic and non-genetic factors were established and receiver operating characteristic curve analysis was used to compare the discriminatory power of different predictive models.Results There were 7 SNPs significantly associated with CRC susceptibility.As the GRS or wGRS increased,the risk of CRC also increased (trend P=0.002 6 for GRS,trend P<0.000 1 for wGRS).The ORs for highest versus lowest quartile of GRS and wGRS were 1.33 (95%CI:1.12-1.58,P=0.001 0) and 1.76 (95% CI:1.45-2.14,P<0.000 1),respectively.The model incorporating wGRS and traditional risk factors,including sex,age,smoking and drinking,was the best one to predict CRC risk in this population,with an area under curve of 0.593 (95%CI:0.573-0.613).Conclusion Multiple genetic loci identified by GWASs jointly influenced the CRC risk.The combination of genetic factors and conventional non-genetic factors improved the performance of risk predictive model for colorectal cancer.%目的 基于结直肠癌全基因组关联研究(GWAS)发现的易感位点,联合传统风险因素建立中国南方汉族人群结直肠癌风险预测模型.方法 对1 066例结直肠癌患者和3 880例健康对照的21个GWAS候选位点进行基因分型,分析其与结直肠癌易感性之间的关联.通过遗传风险评分(GRS)和加权遗传风险评分(wGRS)

  20. Ancient Human Parasites in Ethnic Chinese Populations

    Science.gov (United States)

    Yeh, Hui-Yuan; Mitchell, Piers D.

    2016-01-01

    Whilst archaeological evidence for many aspects of life in ancient China is well studied, there has been much less interest in ancient infectious diseases, such as intestinal parasites in past Chinese populations. Here, we bring together evidence from mummies, ancient latrines, and pelvic soil from burials, dating from the Neolithic Period to the Qing Dynasty, in order to better understand the health of the past inhabitants of China and the diseases endemic in the region. Seven species of intestinal parasite have been identified, namely roundworm, whipworm, Chinese liver fluke, oriental schistosome, pinworm, Taenia sp. tapeworm, and the intestinal fluke Fasciolopsis buski. It was found that in the past, roundworm, whipworm, and Chinese liver fluke appear to have been much more common than the other species. While roundworm and whipworm remained common into the late 20th century, Chinese liver fluke seems to have undergone a marked decline in its prevalence over time. The iconic transport route known as the Silk Road has been shown to have acted as a vector for the transmission of ancient diseases, highlighted by the discovery of Chinese liver fluke in a 2,000 year-old relay station in northwest China, 1,500 km outside its endemic range. PMID:27853113

  1. 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.

  2. 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

  3. Study of follicle-stimulating hormone receptor and tyrosine hydroxylase polymorphisms and pre-eclampsia in Chinese Han population%卵泡刺激素受体及酪氨酸羟化酶基因多态性与子痫前期的关系

    Institute of Scientific and Technical Information of China (English)

    陈颖; 佟晓红; 孙成涓; 张为远

    2010-01-01

    目的 探讨卵泡刺激素受体基因(FSHR)rs1394205多态性和酪氨酸羟化酶基因(TH)rs2070762多态性与子痫前期(PE)发病的关系.方法 采用TaqMan探针法,对105例PE患者和103例正常妊娠妇女的FSHR rs1394205多态性和TH rs2070762多态性位点进行基因型分析.结果 PE组FSHR rs1394205的基因型频率CC、CT、TT分别为23.8%、50.5%、25.7%,等位基因频率C、T分别为49.0%,51.0%.对照组基因型频率CC、CT、TT分别为23.3%、52.4%、24.3%,等位基因频率C、T分别为49.5%,50.5%,两组比较差异无统计学意义(P>0.05);PE组TH基因rs2070762基因型频率CC、CT、TT分别为18.1%、56.2%、25.7%,等位基因频率C、T分别为46.2%,53.8%.对照组基因型频率CC、CT、TT分别为14.6%、42.7%、42.7%,等位基因频率C、T分别为35.9%、64.1%,两组比较PE组TT基因型频率和等位基因T频率明显低于对照组(P<0.05).rs1394205和rs2070762均与PE疾病严重程度差异不明显.结论 TH基因rs2070762多态性(基因型,TT和等位基因T)可能是PE的保护性因素,FSHR基因rs1394205多态性与PE发病无关,2个SNP位点与PE的发病程度均无关.%Objective To analyze a potential association of gene polymorphisms of the folliclestimulating hormone receptor (FSHR) gene rs1394205 polymorphism and tyrosine hydroxylase (TH)rs2070762 polymorphism with pre-eclampsia. Methods The gene polymorphism of FSHR rs1394205 and TH rs2070762 were analyzed by real-time Quantitative polymerase chain reaction (TaqMan probe) in 105 patients with pre-eclampsia and 103 healthy pregnant subjects in Chinese Han population. Genotype and allele were assessed by direct counting methods. And the associations between 2 SNPs and pre-eclampsia were analyzed by chi-square test. Results The frequencies of the TH gene rs2070762 polymorphism CC, C/T and TT genotypes were 14. 6%, 42. 7% and 42. 7% in pre-eclampsia group and 18. 1%, 56. 2% and 25.7% in normal control group respectively. The allelic frequency

  4. 血小板膜糖蛋白Ⅱb HPA-3基因多态性与中国汉族人缺血性卒中的相关性%Correlation between platelet membrane glycoprotein Ⅱb HPA-3 polymorphism and ischemic stroke in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    王栋梁; 孙岩; 李新; 韩瑞发; 王林; 王纪佐

    2013-01-01

    Objective To investigate the distribution of glycoprotein (GP) Ⅱ b HPA-3 polymorphism in Chinese Han population in Tianjin and its correlation with ischemic stroke.Methods The patients in this study were divided into either a ischemic stroke group (n =150) or a control group (n =135).Genotyping was conducted by using polymerase chain reaction-restriction fragment length polymorphism and was verified by sampling sequencing Each genotype and allele frequency distribution and its correlation with ischemic stroke were compared.Results The ab genotype,bb genotype and b allele frequency in the patient group were significantly higher than those in the control group (P =0.000),while aa genotype and a allele frequency were significantly lower than those in the control group (P =0.000).There were no significant differences in the frequencies of GPⅡ b genotype and b allele between the different gender and the age groups in the patient group.Although there were no significant differences in genotype frequencies between all etiologic subtypes,b allele frequency in the large artery atherosclerotic stroke subgroup was significantly higher than that in the small vascular occlusive stroke subgroup and that in the cardioembolism subgroup (61.8% vs.46.7% vs.47.5% ;x2 =6.573,P =0.037).Multivariate logistic regression analysis showed that hypertension (odds ratio [OR] 7.475,95% confidence interval [CI]3.700-15.003; P =0.000) and b allele (OR 3.678,95% CI 1.245-10.863; P =0.018) were the independent risk factors for ischemic stroke.Conclusions GP Ⅱ b HPA-3 polymorphism may be associated with the risk of ischemic stroke onset.Carrying b allele may be an independent risk factor for ischemic stroke,especially large artery atherosclerotic stroke.%目的 探讨天津市汉族人群血小板膜糖蛋白(glycoprotein,GP)Ⅱb HPA-3基因多态性的分布情况及其与缺血性卒中的关系.方法 缺血性卒中组150例,对照组135例,应用聚合酶链反应-限制性内

  5. Association study of reticulon 4 receptor gene polymorphism with schizophrenia in Han Chinese population%网状内皮素4受体基因多态性与中国汉族精神分裂症关联分析

    Institute of Scientific and Technical Information of China (English)

    郭伟云; 李文强; 张红星; 赵晶媛; 郝伟; 吕路线

    2012-01-01

    目的:分析网状内皮素4受体(RTN4R)基因上的5个单核苷酸多态性(SNP)与中国汉族精神分裂症关联,探讨RTN4R基因单核苷酸多态性与精神分裂症易感性的关系.方法:收集符合美国精神障碍诊断与统计手册第4版(DSM-Ⅳ)诊断的528名偏执型精神分裂症患者,在同一地域招募健康体检者528名作为对照,并采用阳性与阴性症状量表(PANSS)评估234例首次发病患者的临床症状,采用基因分型芯片对RTN4R基因上的5个功能单核苷酸多态性位点进行基因分型,分析多态性与疾病的关联性,以及PANSS因子分与RTN4R多态性的关联.结果:成功检测5个单核苷酸多态性位点的基因型,关联分析显示这些位点基因型和等位基因频率分布病例和对照之间差异无统计学意义.与携带rs696880位点GG基因型患者相比,携带AA基因型患者PANSS阳性分[(23.5±5.6)vs.(25.1±7.6),P<0.05]、一般精神病理症状分[(42.6±9.9)vs.(46.0±13.4),P<0.05]均较低,携带AA基因型患者发病年龄晚于携带GG型患者[(24.9±8.1)岁vs.(22.2±6.2)岁,P<0.05].结论:在中国汉族人群中,RTN4R基因多态性与精神分裂症可能不存在关联,但可能影响疾病表现.%Objective:To analyze the association between single nucleolide polymorphisms (SNPs) in reticu-lon 4 receptor (RTN4R) gene and schizophrenia, to determine if the RTN4R gene is a susceptibility gene for schizophrenia in the Han Chinese population. Methods: Totally 528 paranoid schizophrenic patients met the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-W) criteria and 528 healthy controls were recruited. Six SNPs of RTN4R were selected and genotyped using the Illumina GoldenGate assay. Genotype and allele frequencies were compared between patients and controls to assess the association to schizophrenia. The clinical features of the first onset patients were further examined with the Positive and Negative Syndrome Scale

  6. Stature Estimation Based on the Length of Tibia and Fibula Measured by Digital X-ray in Chinese Han Teenagers

    Institute of Scientific and Technical Information of China (English)

    WANG Yu-zhuo; HUANG Yun; ZHOU Xiao-rong; DENG Zhen-hua

    2012-01-01

    Objective To derive regression formulae for stature estimation using forensic radiography from the tibia and fibula of Chinese Han teenagers in Sichuan Province. Methods To construct equations, measurements were conducted on the training sample (412 adults, 201 males and 211 females). The whole length of the fibula and four measurements of tibia were determined using CR radiography, rectified through theoretical magnification. The regression formulae were relatively constructed to the real stature measured in an erect position. Through using the testing sample (40 adults) for the regression formulae, the reliability of the regression formulae was assessed. Results The range of correlation coefficients of four measurements for tibia was 0.880-0.895 in the sex-unknown group, 0.869-0.893 in the male, and 0.845-0.855 in the female. The five measurements were found to be better correlated with stature in the male than in the female. Conclusion The digital X-ray of the tibia and fibula for stature estimation is proved to be effective in forensic individual identification; therefore, these equations can be of great assistance to the stature estimation of the contemporary Chinese Han teenagers.Objective To derive regression formulae for stature estimation using forensic radiography from the tibia and fibula of Chinese Han teenagers in Sichuan Province.Methods To construct equations,measurements were conducted on the training sample (412 adults,201 males and 211 females).The whole length of the fibula and four measurements of tibia were determined using CR radiography,rectified through theoretical magnification.The regression formulae were relatively constructed to the real stature measured in an erect position.Through using the testing sample (40 adults) for the regression formulae,the reliability of the regression formulae was assessed.Results The range of correlation coefficients of four measurements for tibia was 0.880-0.895 in the sex-unknown group,0.869-0.893 in the

  7. 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.

  8. Polymorphism of rs1044925 in the acyl-CoA:cholesterol acyltransferase-1 gene and serum lipid levels in the Guangxi Bai Ku Yao and Han populations

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    Yan Ting-Ting

    2010-12-01

    Full Text Available Abstract Background The association of rs1044925 polymorphism in the acyl-CoA:cholesterol acyltransferase-1 (ACAT-1 gene and serum lipid profiles is not well known in different ethnic groups. Bai Ku Yao is a special subgroup of the Yao minority in China. The present study was carried out to clarify the association of rs1044925 polymorphism in the ACAT-1 gene and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations. Methods A total of 626 subjects of Bai Ku Yao and 624 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of rs1044925 polymorphism in the ACAT-1 gene 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, apolipoprotein (Apo AI and ApoB were lower in Bai Ku Yao than in Han (P P P P P P Conclusions These results suggest that the polymorphism of rs1044925 in the ACAT-1 gene is mainly associated with female serum TC, LDL-C and ApoB levels in the Bai Ku Yao population. The C allele carriers had lower serum TC, LDL-C and ApoB levels than the C allele noncarriers.

  9. Association of apelin genetic variants with type 2 diabetes and related clinical features in Chinese Hans

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    ZHANG Rong; HU Cheng; WANG Cong-rong; MA Xiao-jing; BAO Yu-qian; XU Jing; LU Jing-yi; QIN Wen; XIANG Kun-san; JIA Wei-ping

    2009-01-01

    Background Apelin is an adipokine that contributes to the pathogenesis of type 2 diabetes. The plasma levels of apelin increased in obese patients and diabetic subjects. This study aimed to investigate the effects of apelin genetic variants on type 2 diabetes and related quantitative traits.Methods We selected three single nucleotide polymorphisms (SNPs) that could capture all common variants in APLN gene region and genotyped them in 1892 type 2 diabetic patients and 1808 normal glucose regulation controls. The clinical features related to glucose metabolism were measured in the controls. The comparison of allele and genotype distribution in the cases and controls were performed by using X2 tests. The association between SNPs and quantitative traits were analyzed using Wilcoxon's rank-sum test.Results None of the SNPs or haplotypes showed evidence of association to type 2 diabetes. However, rs2235306 was nominally associated with fasting plasma glucose levels in the male subjects with normal glucose regulation ((4.93±0.03)vs (5.01±0.03) mmol/L, P=0.04). No significant difference was observed between all three SNPs and other variables. Conclusions APLN SNP rs2235306 was associated with fasting plasma glucose levels in males. It suggests that APLN genetic variants may contribute to clinical features related to glucose metabolism in Chinese population.

  10. Poverty linked with population says Chinese delegation.

    Science.gov (United States)

    1996-01-01

    In April 1996, at the senior officials' segment of the 52nd Session of the UN Economic and Social Commission for Asia and the Pacific (ESCAP), the Vice Foreign Minister from China told participants that excessive population growth along with many other adverse factors strongly hampers further sustained development of Asia-Pacific countries. Other adverse factors include environmental degradation, ecological imbalance, over-exploitation of resources, and an uncertain economic environment. Widespread poverty exists in the Asia-Pacific region. 730 million people, 25% of the region's population, live in poverty. This poor population makes up about 66% of the world's poor. Even though most poor people live in rural areas, urban poverty is expanding along with rapid urbanization. China has 65 million people living below the poverty line. The Chinese official endorsed ESCAP's work in poverty and population. The official backs the value of information activities.

  11. 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%