• PMID: 22541561
• Gene Name: HLA-A
• Condition: Nonobstructive azoospermia (NOA)
• Association: Associated
• Mutation: HLA-DRA (rs3129878), rs498422
• Population size: 6802
• Population details: 6802 (2226 azoospermia cases, 4576 controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: HLA, C6orf10 and BTNL2
• Other associated phenotypes: Nonobstructive azoospermia (NOA)

A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia

Zhao H, Xu J, Zhang H, Sun J, Sun Y, Wang Z, Liu J, Ding Q, Lu S, Shi R, You L, Qin Y, Zhao X, Lin X, Li X, Feng J, Wang L, Trent JM, Xu C, Gao Y, Zhang B, Gao X, Hu J, Chen H, Li G, Zhao J, Zou S, Jiang H, Hao C, Zhao Y, Ma J, Zheng SL, Chen ZJ.

A genome-wide association study of Han Chinese subjects was conducted to identify genetic susceptibility loci for nonobstructive azoospermia (NOA). In the discovery stage, 802 azoospermia cases and 1,863 controls were screened for genetic variants in the genome. Promising SNPs were subsequently confirmed in two independent sets of subjects: 818 azoospermia cases and 1,755 controls from northern China, and 606 azoospermia cases and 958 controls from central and southern China. We detected variants at human leukocyte antigen (HLA) regions that were independently associated with NOA (HLA-DRA, rs3129878, p(combine) = 3.70 × 10(-16), odds ratio [OR] = 1.37; C6orf10 and BTNL2, rs498422, p(combine) = 2.43 × 10(-12), OR = 1.42). These findings provide additional insight into the pathogenesis of NOA. CI - Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. FAU - Zhao, Han AU - Zhao H AD - Center for Reproductive Medicine, Shandong Provincial Hospital, Shandong University, 324 Jingwu Road, Jinan, Shandong, China. FAU - Xu, Jianfeng AU - Xu J FAU - Zhang, Haobo AU - Zhang H FAU - Sun, Jielin AU - Sun J FAU - Sun, Yingpu AU - Sun Y FAU - Wang, Zhong AU - Wang Z FAU - Liu, Jiayin AU - Liu J FAU - Ding, Qiang AU - Ding Q FAU - Lu, Shaoming AU - Lu S FAU - Shi, Rong AU - Shi R FAU - You, Li AU - You L FAU - Qin, Yingying AU - Qin Y FAU - Zhao, Xiaoming AU - Zhao X FAU - Lin, Xiaoling AU - Lin X FAU - Li, Xiao AU - Li X FAU - Feng, Junjie AU - Feng J FAU - Wang, Li AU - Wang L FAU - Trent, Jeffrey M AU - Trent JM FAU - Xu, Chengyan AU - Xu C FAU - Gao, Ying AU - Gao Y FAU - Zhang, Bo AU - Zhang B FAU - Gao, Xuan AU - Gao X FAU - Hu, Jingmei AU - Hu J FAU - Chen, Hong AU - Chen H FAU - Li, Guangyu AU - Li G FAU - Zhao, Junzhao AU - Zhao J FAU - Zou, Shuhua AU - Zou S FAU - Jiang, Hong AU - Jiang H FAU - Hao, Cuifang AU - Hao C FAU - Zhao, Yueran AU - Zhao Y FAU - Ma, Jinglong AU - Ma J FAU - Zheng, S Lilly AU - Zheng SL