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学科主题: 临床医学
题名:
Association analysis identifies new risk loci for non-obstructive azoospermia in Chinese men
作者: Hu, Zhibin1,2,3; Li, Zheng4; Yu, Jun1,5; Tong, Chao6; Lin, Yuan1,2,3; Guo, Xuejiang1,5; Lu, Feng2,3; Dong, Jing2,3; Xia, Yankai1,3,7; Wen, Yang1,2,3; Wu, Hao1,5; Li, Honggang8; Zhu, Yong4; Ping, Ping4; Chen, Xiangfeng4; Dai, Juncheng2,3; Jiang, Yue1,2,3; Pan, Shandong2,3; Xu, Peng9; Luo, Kailing10; Du, Qiang11; Yao, Bing12; Liang, Ming13; Gui, Yaoting14; Weng, Ning9; Lu, Hui4; Wang, Zhuqing4; Zhang, Fengbin15; Zhu, Xiaobin4; Yang, Xiaoyu1,16; Zhang, Zhou17; Zhao, Han18; Xiong, Chenliang8; Ma, Hongxia2,3; Jin, Guangfu2,3; Chen, Feng2,3; Xu, Jianfeng19; Wang, Xinru17; Zhou, Zuomin1,5; Chen, Zi-Jiang18; Liu, Jiayin1,16; Shen, Hongbing1,2,3; Sha, Jiahao1,5
刊名: NATURE COMMUNICATIONS
发表日期: 2014-05-01
DOI: 10.1038/ncomms4857
卷: 5
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: GENOME-WIDE ASSOCIATION ; MALE-INFERTILITY ; LINEAGE ; GENE ; DISTINCT ; REVEALS ; PROTEIN ; REGION ; TESTIS
英文摘要:

Male factor infertility affects one-sixth of couples worldwide, and non-obstructive azoospermia (NOA) is one of the most severe forms. Our previous genome-wide association study (GWAS) identified three susceptibility loci for NOA in Han Chinese men. Here we test promising associations in an extended three-stage validation using 3,608 NOA cases and 5,909 controls to identify additional risk loci. We find strong evidence of three NOA susceptibility loci (P<5.0 x 10(-8)) at 6p21.32 (rs7194, P=3.76 x 10(-19)), 10q25.3 (rs7099208, P=6.41 x 10(-14)) and 6p12.2 (rs13206743, P=3.69 x 10(-8)), as well as one locus approaching genome-wide significance at 1q42.13 (rs3000811, P=7.26 x 10(-8)). In addition, we investigate the phenotypic effect of the related gene (gek, orthologous to CDC42BPA) at 1q42.13 on male fertility using a Drosophila model. These results advance our understanding of the genetic susceptibility to NOA and provide insights into its pathogenic mechanism.

语种: 英语
所属项目编号: 2013CB945700 ; 2011CB944304 ; 2013CB911400 ; 2011CB944504 ; 2012CB966600 ; 2010CB945200 ; 81222006 ; 81225020 ; 10JC1409900
项目资助者: National Key Basic Research Program ; Chinese Natural Science Funds ; National Science Foundation for Distinguished Young Scholars of China - Priority Academic Program Development of Jiangsu Higher Education Institutions ; Key Project of Shanghai Municipal Science and Technology
WOS记录号: WOS:000337503800001
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60290
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 210029, Jiangsu, Peoples R China
2.Nanjing Med Univ, Sch Publ Hlth, Minist Educ, Dept Epidemiol, Nanjing 211166, Jiangsu, Peoples R China
3.Nanjing Med Univ, Sch Publ Hlth, Minist Educ, Key Lab Modern Toxicol, Nanjing 211166, Jiangsu, Peoples R China
4.Shanghai Jiao Tong Univ, Sch Med, Renji Hosp, Shanghai Human Sperm Bank,Dept Urol, Shanghai 200127, Peoples R China
5.Nanjing Med Univ, Dept Histol & Embryol, Nanjing 210029, Jiangsu, Peoples R China
6.Zhejiang Univ, Inst Prevent Vet Med, Zhejiang Prov Key Lab Prevent Vet Med, Hangzhou 310058, Zhejiang, Peoples R China
7.Nanjing Med Univ, Sch Publ Hlth, Minist Educ, Dept Toxicol, Nanjing 211166, Jiangsu, Peoples R China
8.Huazhong Univ Sci & Technol, Tongji Med Coll, Ctr Reprod Med, Family Planning Res Inst, Wuhan 430032, Peoples R China
9.Jinghua Hosp, Shenyang Dongfang Med Grp, Shenyang 110004, Peoples R China
10.Second Hosp Nanning, Reprod Med Ctr, Nanning 530022, Peoples R China
11.China Med Univ, Shengjing Hosp, Dept Reprod, Shenyang 110004, Peoples R China
12.Nanjing Jinling Hosp, Dept Androl, Nanjing 210029, Jiangsu, Peoples R China
13.Shandong Univ Tradit Chinese Med, Affiliated Hosp 2, Jinan 250033, Shandong, Peoples R China
14.Peking Univ, Shenzhen Hosp, Guangdong Key Lab Male Reprod Med & Genet, Shenzhen 518035, Peoples R China
15.Maternal & Child Hlth Hosp Shanxi Prov, Xian 300013, Peoples R China
16.Zhejiang Univ, Sch Med, Womens Hosp, Hangzhou 310006, Zhejiang, Peoples R China
17.Nanjing Med Univ, Ctr Clin Reprod Med, Affiliated Hosp 1, Nanjing 210029, Jiangsu, Peoples R China
18.Shandong Univ, Shandong Prov Hosp, Ctr Reprod Med, Jinan 250021, Peoples R China
19.Fudan Univ, Dept Urol, Huashan Hosp, Shanghai 200052, Peoples R China

Recommended Citation:
Hu, Zhibin,Li, Zheng,Yu, Jun,et al. Association analysis identifies new risk loci for non-obstructive azoospermia in Chinese men[J]. NATURE COMMUNICATIONS,2014,5.
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