A Genome-wide Association Study Reveals that Variants within the HLA Region Are Associated with Risk for Nonobstructive Azoospermia
Author(s) -
Han Zhao,
Jianfeng Xu,
Haobo Zhang,
Jielin Sun,
Yingpu Sun,
Zhong Wang,
Jiayin Liu,
Qiang Ding,
Shaoming Lu,
Rong Shi,
You Li,
Yingying Qin,
Xiaoming Zhao,
Xiaoling Lin,
Xiao Li,
Junjie Feng,
Li Wang,
Jeffrey M. Trent,
Chengyan Xu,
Ying Gao,
Bo Zhang,
Xuan Gao,
Jingmei Hu,
Hong Chen,
Guangyu Li,
Junzhao Zhao,
Shuhua Zou,
Hong Jiang,
Cuifang Hao,
Yueran Zhao,
Jing-Long Ma,
S. Lilly Zheng,
ZiJiang Chen
Publication year - 2012
Publication title -
the american journal of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.661
H-Index - 302
eISSN - 1537-6605
pISSN - 0002-9297
DOI - 10.1016/j.ajhg.2012.04.001
Subject(s) - azoospermia , human leukocyte antigen , biology , genetics , single nucleotide polymorphism , odds ratio , genome wide association study , male infertility , gene , medicine , infertility , genotype , antigen , pregnancy
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.
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