| Title | Association analysis identifies new risk loci for non-obstructive azoospermia in Chinese men |
| Authors | Hu, Zhibin Li, Zheng Yu, Jun Tong, Chao Lin, Yuan Guo, Xuejiang Lu, Feng Dong, Jing Xia, Yankai Wen, Yang Wu, Hao Li, Honggang Zhu, Yong Ping, Ping Chen, Xiangfeng Dai, Juncheng Jiang, Yue Pan, Shandong Xu, Peng Luo, Kailing Du, Qiang Yao, Bing Liang, Ming Gui, Yaoting Weng, Ning Lu, Hui Wang, Zhuqing Zhang, Fengbin Zhu, Xiaobin Yang, Xiaoyu Zhang, Zhou Zhao, Han Xiong, Chenliang Ma, Hongxia Jin, Guangfu Chen, Feng Xu, Jianfeng Wang, Xinru Zhou, Zuomin Chen, Zi-Jiang Liu, Jiayin Shen, Hongbing Sha, Jiahao |
| Affiliation | Nanjing Med Univ, State Key Lab Reprod Med, Nanjing 210029, Jiangsu, Peoples R China. Nanjing Med Univ, Sch Publ Hlth, Minist Educ, Dept Epidemiol, Nanjing 211166, Jiangsu, Peoples R China. Nanjing Med Univ, Sch Publ Hlth, Minist Educ, Key Lab Modern Toxicol, Nanjing 211166, Jiangsu, Peoples R China. Shanghai Jiao Tong Univ, Sch Med, Renji Hosp, Shanghai Human Sperm Bank,Dept Urol, Shanghai 200127, Peoples R China. Nanjing Med Univ, Dept Histol & Embryol, Nanjing 210029, Jiangsu, Peoples R China. Zhejiang Univ, Inst Prevent Vet Med, Zhejiang Prov Key Lab Prevent Vet Med, Hangzhou 310058, Zhejiang, Peoples R China. Nanjing Med Univ, Sch Publ Hlth, Minist Educ, Dept Toxicol, Nanjing 211166, Jiangsu, Peoples R China. Huazhong Univ Sci & Technol, Tongji Med Coll, Ctr Reprod Med, Family Planning Res Inst, Wuhan 430032, Peoples R China. Jinghua Hosp, Shenyang Dongfang Med Grp, Shenyang 110004, Peoples R China. Second Hosp Nanning, Reprod Med Ctr, Nanning 530022, Peoples R China. China Med Univ, Shengjing Hosp, Dept Reprod, Shenyang 110004, Peoples R China. Nanjing Jinling Hosp, Dept Androl, Nanjing 210029, Jiangsu, Peoples R China. Shandong Univ Tradit Chinese Med, Affiliated Hosp 2, Jinan 250033, Shandong, Peoples R China. Peking Univ, Shenzhen Hosp, Guangdong Key Lab Male Reprod Med & Genet, Shenzhen 518035, Peoples R China. Zhejiang Univ, Sch Med, Womens Hosp, Hangzhou 310006, Zhejiang, Peoples R China. Nanjing Med Univ, Ctr Clin Reprod Med, Affiliated Hosp 1, Nanjing 210029, Jiangsu, Peoples R China. Maternal & Child Hlth Hosp Shanxi Prov, Xian 300013, Peoples R China. Shandong Univ, Shandong Prov Hosp, Ctr Reprod Med, Jinan 250021, Peoples R China. Fudan Univ, Dept Urol, Huashan Hosp, Shanghai 200052, Peoples R China. |
| Keywords | GENOME-WIDE ASSOCIATION MALE-INFERTILITY LINEAGE GENE DISTINCT REVEALS PROTEIN REGION TESTIS |
| Issue Date | 2014 |
| Publisher | nature communications |
| Citation | NATURE COMMUNICATIONS.2014,5. |
| Abstract | 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. |
| URI | http://hdl.handle.net/20.500.11897/342173 |
| ISSN | 2041-1723 |
| DOI | 10.1038/ncomms4857 |
| Indexed | SCI(E) PubMed |
| Appears in Collections: | 深圳医院 |
