Dataset Information

Evaluation of candidate genes associated with hepatitis A and E virus infection in Chinese Han population.

ABSTRACT: Recent GWAS-associated studies reported that single nucleotide polymorphisms (SNPs) in ABCB1, TGF?1, XRCC1 genes were associated with hepatitis A virus (HAV) infection, and variants of APOA4 and APOE genes were associated with and hepatitis E virus (HEV) infection in US population. However, the associations of these loci with HAV or HEV infection in Chinese Han population remain unclear.A total of 3082 Chinese Han persons were included in this study. Anti-HAV IgG and anti-HEV IgG were detected by enzyme-linked immunosorbent assay (ELISA). Genotypes in ABCB1, TGF?1, XRCC1, APOA4 and APOE SNPs were determined by TaqMan MGB technology.In Chinese Han population, rs1045642 C to T variation in ABCB1 was significantly associated with the decreased risk of HAV infection (P?

SUBMITTER: Gu M

PROVIDER: S-EPMC5859746 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature

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Evaluation of candidate genes associated with hepatitis A and E virus infection in Chinese Han population.

Gu Maolin M Qiu Jing J Guo Daoxia D Xu Yunfang Y Liu Xingxiang X Shen Chong C Dong Chen C

Virology journal 20180320 1

<h4>Background</h4>Recent GWAS-associated studies reported that single nucleotide polymorphisms (SNPs) in ABCB1, TGFβ1, XRCC1 genes were associated with hepatitis A virus (HAV) infection, and variants of APOA4 and APOE genes were associated with and hepatitis E virus (HEV) infection in US population. However, the associations of these loci with HAV or HEV infection in Chinese Han population remain unclear.<h4>Methods</h4>A total of 3082 Chinese Han persons were included in this study. Anti-HAV I ...[more]

PMID: 29558945

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Project description:BackgroundOligozoospermia is one of the severe forms of idiopathic male infertility. However, its pathology is largely unknown, and few genetic factors have been defined. Our previous genome-wide association study (GWAS) has identified four risk loci for non-obstructive azoospermia (NOA).ObjectiveTo investigate the potentially functional genetic variants (including not only common variants, but also less-common and rare variants) of these loci on spermatogenic impairment, especially oligozoospermia.Design setting and participantsA total of 784 individuals with oligozoospermia and 592 healthy controls were recruited to this study from March 2004 and January 2011.MeasurementsWe conducted a two-stage study to explore the association between oligozoospermia and new makers near NOA risk loci. In the first stage, we used next generation sequencing (NGS) in 96 oligozoospermia cases and 96 healthy controls to screen oligozoospermia-susceptible genetic variants. Next, we validated these variants in a large cohort containing 688 cases and 496 controls by SNPscan for high-throughput Single Nucleotide Polymorphism (SNP) genotyping.Results and limitationsTotally, we observed seven oligozoospermia associated variants (rs3791185 and rs2232015 in PRMT6, rs146039840 and rs11046992 in Sox5, rs1129332 in PEX10, rs3197744 in SIRPA, rs1048055 in SIRPG) in the first stage. In the validation stage, rs3197744 in SIRPA and rs11046992 in Sox5 were associated with increased risk of oligozoospermia with an odds ratio (OR) of 4.62 (P ?=? 0.005, 95%CI 1.58-13.4) and 1.82 (P ?=? 0.005, 95%CI 1.01-1.64), respectively. Further investigation in larger populations and functional characterizations are needed to validate our findings.ConclusionsOur study provides evidence of independent oligozoospermia risk alleles driven by variants in the potentially functional regions of genes discovered by GWAS. Our findings suggest that integrating sequence data with large-scale genotyping will serve as an effective strategy for discovering risk alleles in the future.

Dataset Information

Evaluation of candidate genes associated with hepatitis A and E virus infection in Chinese Han population.

Publications

Evaluation of candidate genes associated with hepatitis A and E virus infection in Chinese Han population.

Similar Datasets

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