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

Chuncheng Lu, Yang Wen, Weiyue Hu, Feng Lu, Yufeng Qin, Ying Wang, Shilin Li, Shuping Yang, Yuan Lin, Cheng Wang, Li Jin, Hongbing Shen, Jiahao Sha, Xinru Wang, Zhibin Hu, Yankai Xia

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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.

Original languageEnglish (US)
Article number33363
JournalScientific reports
Volume6
DOIs
StatePublished - Sep 15 2016

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Lu, C., Wen, Y., Hu, W., Lu, F., Qin, Y., Wang, Y., Li, S., Yang, S., Lin, Y., Wang, C., Jin, L., Shen, H., Sha, J., Wang, X., Hu, Z., & Xia, Y. (2016). Y chromosome haplogroups based genome-wide association study pinpoints revelation for interactions on non-obstructive azoospermia. Scientific reports, 6, [33363]. https://doi.org/10.1038/srep33363