Dataset Information

Y chromosome haplogroups based genome-wide association study pinpoints revelation for interactions on non-obstructive azoospermia.

ABSTRACT: The Y chromosome has high genetic variability with low rates of parallel and back mutations, which make up the most informative haplotyping system. To examine whether Y chromosome haplogroups (Y-hgs) could modify the effects of autosomal variants on non-obstructive azoospermia (NOA), based on our previous genome-wide association study (GWAS), we conducted a genetic interaction analysis in GWAS subjects. Logistic regression analysis demonstrated a protective effect of Y-hg O3e(*) on NOA. Then, we explored the potential interaction between Y-hg O3e(*) and autosomal variants. Our results demonstrated that there was a suggestively significant interaction between Y-hg O3e(*) and rs11135484 on NOA (Pinter = 9.89 × 10(-5)). Bioinformatic analysis revealed that genes annotated by significant single nucleotide polymorphisms (SNPs) were mainly enriched in immunological pathways. This is the first study of interactions between Y-hgs and autosomal variants on a genome-wide scale, which addresses the missing heritability in spermatogenic impairment and sheds new light on the pathogenesis of male infertility.

SUBMITTER: Lu C

PROVIDER: S-EPMC5024297 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature

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Y chromosome haplogroups based genome-wide association study pinpoints revelation for interactions on non-obstructive azoospermia.

Lu Chuncheng C Wen Yang Y Hu Weiyue W Lu Feng F Qin Yufeng Y Wang Ying Y Li Shilin S Yang Shuping S Lin Yuan Y Wang Cheng C Jin Li L Shen Hongbing H Sha Jiahao J Wang Xinru X Hu Zhibin Z Xia Yankai Y

Scientific reports 20160915

The Y chromosome has high genetic variability with low rates of parallel and back mutations, which make up the most informative haplotyping system. To examine whether Y chromosome haplogroups (Y-hgs) could modify the effects of autosomal variants on non-obstructive azoospermia (NOA), based on our previous genome-wide association study (GWAS), we conducted a genetic interaction analysis in GWAS subjects. Logistic regression analysis demonstrated a protective effect of Y-hg O3e(*) on NOA. Then, we ...[more]

PMID: 27628680

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Dataset Information

Y chromosome haplogroups based genome-wide association study pinpoints revelation for interactions on non-obstructive azoospermia.

Publications

Y chromosome haplogroups based genome-wide association study pinpoints revelation for interactions on non-obstructive azoospermia.

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