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.
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