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

Han Zhao, Jianfeng Xu, Haobo Zhang, Jielin Sun, Yingpu Sun, Zhong Wang, Jiayin Liu, Qiang Ding, Shaoming Lu, Rong Shi, Li You, Yingying Qin, Xiaoming Zhao, Xiaoling Lin, Xiao Li, Junjie Feng, Li Wang, Jeffrey M. Trent, Chengyan Xu, Ying GaoBo Zhang, Xuan Gao, Jingmei Hu, Hong Chen, Guangyu Li, Junzhao Zhao, Shuhua Zou, Hong Jiang, Cuifang Hao, Yueran Zhao, Jinglong Ma, S. Lilly Zheng, Zi Jiang Chen

Research output: Contribution to journalArticlepeer-review

Abstract

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, pcombine = 2.43 × 10 -12, OR = 1.42). These findings provide additional insight into the pathogenesis of NOA.

Original languageEnglish (US)
Pages (from-to)900-906
Number of pages7
JournalAmerican journal of human genetics
Volume90
Issue number5
DOIs
StatePublished - May 4 2012
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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