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

• DOI: 10.1038/srep33363
• Publication Date: 2016-09-15T09:52:35Z
• Authors: 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
• Keywords: Haplogroup; Genome-wide Association Study; Missing heritability problem; Genetic Association

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 haplogroups (Y-hgs) could modify effects autosomal variants on non-obstructive azoospermia (NOA), based our previous genome-wide association study (GWAS), we conducted a interaction analysis in GWAS subjects. Logistic regression demonstrated protective effect Y-hg O3e * NOA. Then, explored potential between variants. Our results that there was suggestively significant rs11135484 NOA ( P inter = 9.89 × 10 −5 ). Bioinformatic revealed genes annotated by single nucleotide polymorphisms (SNPs) were mainly enriched immunological pathways. This is first interactions Y-hgs scale, addresses missing heritability spermatogenic impairment sheds new light pathogenesis male infertility.