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

被引：127

作者：

Hu, Zhibin ^{[1
,2
,3
]}

Xia, Yankai ^{[1
,4
,5
]}

Guo, Xuejiang ^{[1
,6
]}

Dai, Juncheng ^{[2
,3
]}

Li, HongGang ^{[7
]}

Hu, Hongliang ^{[8
,9
]}

Jiang, Yue ^{[2
,3
]}

Lu, Feng ^{[2
,3
]}

Wu, Yibo ^{[1
,6
]}

Yang, Xiaoyu ^{[1
,10
]}

Li, Huizhang ^{[2
,3
]}

Yao, Bing ^{[11
]}

Lu, Chuncheng ^{[4
,5
]}

Xiong, Chenliang ^{[7
]}

Li, Zheng ^{[8
,9
]}

Gui, Yaoting ^{[12
]}

Liu, Jiayin ^{[1
,10
]}

Zhou, Zuomin ^{[1
,6
]}

Shen, Hongbing ^{[1
,2
,3
]}

Wang, Xinru ^{[1
,4
,5
]}

Sha, Jiahao ^{[1
,6
]}

机构：

[1] Nanjing Med Univ, State Key Lab Reprod Med, Nanjing, Jiangsu, Peoples R China

[2] Nanjing Med Univ, Sch Publ Hlth, Dept Epidemiol & Biostat, Nanjing, Jiangsu, Peoples R China

[3] Nanjing Med Univ, Sch Publ Hlth, Minist Educ, Key Lab Modern Toxicol, Nanjing, Jiangsu, Peoples R China

[4] Nanjing Med Univ, Sch Publ Hlth, Dept Toxicol, Nanjing, Jiangsu, Peoples R China

[5] Nanjing Med Univ, Sch Publ Hlth, Key Lab Modern Toxicol, Minist Educ, Nanjing, Jiangsu, Peoples R China

[6] Nanjing Med Univ, Dept Histol & Embryol, Nanjing, Jiangsu, Peoples R China

[7] Huazhong Univ Sci & Technol, Tongji Med Coll, Ctr Reprod Med, Family Planning Res Inst, Wuhan 430074, Peoples R China

[8] Shanghai Jiao Tong Univ, Sperm Dev & Genet Lab, Shanghai Human Sperm Bank, Shanghai Inst Androl,Sch Med, Shanghai 200030, Peoples R China

[9] Shanghai Jiao Tong Univ, Dept Urol, Renji Hosp, Sch Med, Shanghai 200030, Peoples R China

[10] Nanjing Med Univ, Affiliated Hosp 1, Ctr Clin Reprod Med, Nanjing, Jiangsu, Peoples R China

[11] Nanjing Jinling Hosp, Dept Androl, Nanjing, Jiangsu, Peoples R China

[12] Peking Univ, Shenzhen Hosp, Guangdong Key Lab Male Reprod Med & Genet, Shenzhen, Peoples R China

来源：

NATURE GENETICS | 2012年 / 44卷 / 02期

关键词：

DNA-POLYMERASE-BETA; BASE-EXCISION-REPAIR; MALE-INFERTILITY; SEVERE OLIGOZOOSPERMIA; ARGININE METHYLATION; GERM-CELLS; EXPRESSION; PROTEIN; METHYLTRANSFERASE; SPERMATOGENESIS;

D O I：

10.1038/ng.1040

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 x 10(-8)) associations between NOA risk and common variants near PRMT6 (rs12097821 at 1p13.3: odds ratio (OR) = 1.25, P = 5.7 x 10(-10)), PEX10 (rs2477686 at 1p36.32: OR = 1.39, P = 5.7 x 10(-12)) and SOX5 (rs10842262 at 12p12.1: OR = 1.23, P = 2.3 x 10(-9)). These findings implicate genetic variants at 1p13.3, 1p36.32 and 12p12.1 in the etiology of NOA in Han Chinese men.

引用

页码：183 / 186

页数：4

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