A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia

• Published in: Nature genetics Vol. 44; no. 2; pp. 183 - 186
• Main Authors: Hu, Zhibin, Xia, Yankai, Guo, Xuejiang, Dai, Juncheng, Li, HongGang, Hu, Hongliang, Jiang, Yue, Lu, Feng, Wu, Yibo, Yang, Xiaoyu, Li, Huizhang, Yao, Bing, Lu, Chuncheng, Xiong, Chenliang, Li, Zheng, Gui, Yaoting, Liu, Jiayin, Zhou, Zuomin, Shen, Hongbing, Wang, Xinru, Sha, Jiahao
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.02.2012; Nature Publishing Group
• Subjects: 631/208/205/2138; 631/208/727/2000; 692/699/2768/294; 692/700/478/174; Adult; Agriculture; Animal Genetics and Genomics; Asian Continental Ancestry Group - genetics; Azoospermia - genetics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Birth control; Cancer Research; Case-Control Studies; Chromosomes, Human, Pair 1 - genetics; Chromosomes, Human, Pair 12 - genetics; Demographic aspects; Fundamental and applied biological sciences. Psychology; Gene expression; Gene Function; Genealogy; Genetic aspects; Genetic Loci; Genetic Predisposition to Disease; Genetic susceptibility; Genetic variance; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genome-Wide Association Study; Genomes; Gynecology. Andrology. Obstetrics; Human Genetics; Humans; Infertility; Infertility, Male; letter; Male; Medical sciences; Men; Mutation; Nuclear Proteins - genetics; Peroxins; Polymorphism, Single Nucleotide; Protein-Arginine N-Methyltransferases - genetics; Receptors, Cytoplasmic and Nuclear - genetics; Risk; Risk factors; SOXD Transcription Factors - genetics; Sterility. Assisted procreation; Studies; China; Azoospermia; Association; Male sterility; Chinese; Risk; Identification; Locus; Male genital diseases
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng.1040

Jiahao Sha, Xinru Wang, Hongbing Shen and colleagues report a genome-wide association study of non-obstructive azoospermia in Chinese men. They identify common variants near three genes ( PRMT6 , PEX10 and SOX5 ) associated with this form of male infertility. 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.