| Literature DB >> 24852083 |
Zhibin Hu1, Zheng Li2, Jun Yu3, Chao Tong4, Yuan Lin1, Xuejiang Guo3, Feng Lu5, Jing Dong5, Yankai Xia6, Yang Wen7, Hao Wu8, Honggang Li9, Yong Zhu10, Ping Ping10, Xiangfeng Chen10, Juncheng Dai5, Yue Jiang7, Shandong Pan5, Peng Xu11, Kailing Luo12, Qiang Du13, Bing Yao14, Ming Liang15, Yaoting Gui16, Ning Weng11, Hui Lu10, Zhuqing Wang10, Fengbin Zhang17, Xiaobin Zhu10, Xiaoyu Yang18, Zhou Zhang19, Han Zhao20, Chenliang Xiong9, Hongxia Ma5, Guangfu Jin5, Feng Chen5, Jianfeng Xu21, Xinru Wang6, Zuomin Zhou8, Zi-Jiang Chen20, Jiayin Liu18, Hongbing Shen7, Jiahao Sha8.
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 × 10(-8)) at 6p21.32 (rs7194, P=3.76 × 10(-19)), 10q25.3 (rs7099208, P=6.41 × 10(-14)) and 6p12.2 (rs13206743, P=3.69 × 10(-8)), as well as one locus approaching genome-wide significance at 1q42.13 (rs3000811, P=7.26 × 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.Entities:
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Year: 2014 PMID： 24852083 DOI： 10.1038/ncomms4857
Source DB: PubMed Journal: Nat Commun ISSN： 2041-1723 Impact factor: 14.919