• PMID: 22197933
• Gene Name: PRMT6
• Condition: Non-obstructive azoospermia
• Association: Associated
• Mutation: PRMT6 (rs12097821), PEX10 (rs2477686), SOX5 (rs10842262)
• Population size: 8661
• Population details: 8661 (2,927 individuals with NOA, 5,734 controls)
• Sex: Male
• Infertility type: Male infertility
• Associated genes: PRMT6, PEX10, SOX5
• Other associated phenotypes: Non-obstructive azoospermia

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

Hu Z, Xia Y, Guo X, Dai J, Li H, Hu H, Jiang Y, Lu F, Wu Y, Yang X, Li H, Yao B, Lu C, Xiong C, Li Z, Gui Y, Liu J, Zhou Z, Shen H, Wang X, Sha J.

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. FAU - Hu, Zhibin AU - Hu Z AD - State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China. FAU - Xia, Yankai AU - Xia Y FAU - Guo, Xuejiang AU - Guo X FAU - Dai, Juncheng AU - Dai J FAU - Li, HongGang AU - Li H FAU - Hu, Hongliang AU - Hu H FAU - Jiang, Yue AU - Jiang Y FAU - Lu, Feng AU - Lu F FAU - Wu, Yibo AU - Wu Y FAU - Yang, Xiaoyu AU - Yang X FAU - Li, Huizhang AU - Li H FAU - Yao, Bing AU - Yao B FAU - Lu, Chuncheng AU - Lu C FAU - Xiong, Chenliang AU - Xiong C FAU - Li, Zheng AU - Li Z FAU - Gui, Yaoting AU - Gui Y FAU - Liu, Jiayin AU - Liu J FAU - Zhou, Zuomin AU - Zhou Z FAU - Shen, Hongbing AU - Shen H FAU - Wang, Xinru AU - Wang X