title: A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
abstract: Non-obstructive azoospermia (NOA) is one of the most severe forms of male infertility. Its pathophysiology is largely unknown, and few genetic influences have been defined. To identify common variants contributing to NOA in Han Chinese men, we performed a three-stage genome-wide association study of 2,927 individuals with NOA and 5,734 controls. The combined analyses identified significant (P < 5.0 × 10(-8)) associations between NOA risk and common variants near PRMT6 (rs12097821 at 1p13.3: odds ratio (OR) = 1.25, P = 5.7 × 10(-10)), PEX10 (rs2477686 at 1p36.32: OR = 1.39, P = 5.7 × 10(-12)) and SOX5 (rs10842262 at 12p12.1: OR = 1.23, P = 2.3 × 10(-9)). These findings implicate genetic variants at 1p13.3, 1p36.32 and 12p12.1 in the etiology of NOA in Han Chinese men.
authors.affiliation: State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.
authors.forename: Zhibin
authors.initials: Z
authors.lastname: Hu
authors.forename: Yankai
authors.initials: Y
authors.lastname: Xia
authors.forename: Xuejiang
authors.initials: X
authors.lastname: Guo
authors.forename: Juncheng
authors.initials: J
authors.lastname: Dai
authors.forename: HongGang
authors.initials: H
authors.lastname: Li
authors.forename: Hongliang
authors.initials: H
authors.lastname: Hu
authors.forename: Yue
authors.initials: Y
authors.lastname: Jiang
authors.forename: Feng
authors.initials: F
authors.lastname: Lu
authors.forename: Yibo
authors.initials: Y
authors.lastname: Wu
authors.forename: Xiaoyu
authors.initials: X
authors.lastname: Yang
authors.forename: Huizhang
authors.initials: H
authors.lastname: Li
authors.forename: Bing
authors.initials: B
authors.lastname: Yao
authors.forename: Chuncheng
authors.initials: C
authors.lastname: Lu
authors.forename: Chenliang
authors.initials: C
authors.lastname: Xiong
authors.forename: Zheng
authors.initials: Z
authors.lastname: Li
authors.forename: Yaoting
authors.initials: Y
authors.lastname: Gui
authors.forename: Jiayin
authors.initials: J
authors.lastname: Liu
authors.forename: Zuomin
authors.initials: Z
authors.lastname: Zhou
authors.forename: Hongbing
authors.initials: H
authors.lastname: Shen
authors.forename: Xinru
authors.initials: X
authors.lastname: Wang
authors.forename: Jiahao
authors.initials: J
authors.lastname: Sha
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D053713:Azoospermia / Q000235:genetics*; D016022:Case-Control Studies; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D000074401:Peroxins; D020641:Polymorphism, Single Nucleotide; D011484:Protein-Arginine N-Methyltransferases / Q000235:genetics; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D012306:Risk; D055755:SOXD Transcription Factors / Q000235:genetics
chemical_list: D009687:Nuclear Proteins; C116156:PEX10 protein, human; D000074401:Peroxins; D018160:Receptors, Cytoplasmic and Nuclear; C490301:SOX5 protein, human; D055755:SOXD Transcription Factors; C447833:PRMT6 protein, human; D011484:Protein-Arginine N-Methyltransferases