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学科主题: 临床医学
题名:
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia
作者: Hu, Zhibin1,2,3; Xia, Yankai1,4,5; Guo, Xuejiang1,6; Dai, Juncheng2,3; Li, HongGang7; Hu, Hongliang8,9; Jiang, Yue2,3; Lu, Feng2,3; Wu, Yibo1,6; Yang, Xiaoyu1,10; Li, Huizhang2,3; Yao, Bing11; Lu, Chuncheng4,5; Xiong, Chenliang7; Li, Zheng8,9; Gui, Yaoting12; Liu, Jiayin1,10; Zhou, Zuomin1,6; Shen, Hongbing1,2,3; Wang, Xinru1,4,5; Sha, Jiahao1,6
刊名: NATURE GENETICS
发表日期: 2012-02-01
DOI: 10.1038/ng.1040
卷: 44, 期:2, 页:183-186
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: DNA-POLYMERASE-BETA ; BASE-EXCISION-REPAIR ; MALE-INFERTILITY ; SEVERE OLIGOZOOSPERMIA ; ARGININE METHYLATION ; GERM-CELLS ; EXPRESSION ; PROTEIN ; METHYLTRANSFERASE ; SPERMATOGENESIS
英文摘要:

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.

语种: 英语
所属项目编号: 2011CB944304 ; 2009AA022705
项目资助者: National Key Basic Research Program Grant ; China National High-Tech Research and Development Program Grant ; Priority Academic Program Development of Jiangsu Higher Education Institutions
WOS记录号: WOS:000299664400017
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/58840
Appears in Collections:北京大学深圳医院_期刊论文

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作者单位: 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

Recommended Citation:
Hu, Zhibin,Xia, Yankai,Guo, Xuejiang,et al. A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia[J]. NATURE GENETICS,2012,44(2):183-186.
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