title: A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia.
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, p(combine) = 2.43 × 10(-12), OR = 1.42). These findings provide additional insight into the pathogenesis of NOA.
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital, Shandong University, 324 Jingwu Road, Jinan, Shandong, China.
authors.forename: Han
authors.initials: H
authors.lastname: Zhao
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Xu
authors.forename: Haobo
authors.initials: H
authors.lastname: Zhang
authors.forename: Jielin
authors.initials: J
authors.lastname: Sun
authors.forename: Yingpu
authors.initials: Y
authors.lastname: Sun
authors.forename: Zhong
authors.initials: Z
authors.lastname: Wang
authors.forename: Jiayin
authors.initials: J
authors.lastname: Liu
authors.forename: Qiang
authors.initials: Q
authors.lastname: Ding
authors.forename: Shaoming
authors.initials: S
authors.lastname: Lu
authors.forename: Rong
authors.initials: R
authors.lastname: Shi
authors.forename: Li
authors.initials: L
authors.lastname: You
authors.forename: Yingying
authors.initials: Y
authors.lastname: Qin
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Zhao
authors.forename: Xiaoling
authors.initials: X
authors.lastname: Lin
authors.forename: Xiao
authors.initials: X
authors.lastname: Li
authors.forename: Junjie
authors.initials: J
authors.lastname: Feng
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Trent
authors.forename: Chengyan
authors.initials: C
authors.lastname: Xu
authors.forename: Ying
authors.initials: Y
authors.lastname: Gao
authors.forename: Bo
authors.initials: B
authors.lastname: Zhang
authors.forename: Xuan
authors.initials: X
authors.lastname: Gao
authors.forename: Jingmei
authors.initials: J
authors.lastname: Hu
authors.forename: Hong
authors.initials: H
authors.lastname: Chen
authors.forename: Guangyu
authors.initials: G
authors.lastname: Li
authors.forename: Junzhao
authors.initials: J
authors.lastname: Zhao
authors.forename: Shuhua
authors.initials: S
authors.lastname: Zou
authors.forename: Hong
authors.initials: H
authors.lastname: Jiang
authors.forename: Cuifang
authors.initials: C
authors.lastname: Hao
authors.forename: Yueran
authors.initials: Y
authors.lastname: Zhao
authors.forename: Jinglong
authors.initials: J
authors.lastname: Ma
authors.forename: S Lilly
authors.initials: SL
authors.lastname: Zheng
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D053713:Azoospermia / Q000453:epidemiology* / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study / Q000379:methods*; D006680:HLA Antigens / Q000235:genetics*; D006801:Humans; D008297:Male; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D006680:HLA Antigens