Association analysis identifies new risk loci for non-obstructive azoospermia in Chinese men

Zhibin Hu, Zheng Li, Jun Yu, Chao Tong, Yuan Lin, Xuejiang Guo, Feng Lu, Jing Dong, Yankai Xia, Yang Wen, Hao Wu, Honggang Li, Yong Zhu, Ping Ping, Xiangfeng Chen, Juncheng Dai, Yue Jiang, Shandong Pan, Peng Xu, Kailing LuoQiang Du, Bing Yao, Ming Liang, Yaoting Gui, Ning Weng, Hui Lu, Zhuqing Wang, Fengbin Zhang, Xiaobin Zhu, Xiaoyu Yang, Zhou Zhang, Han Zhao, Chenliang Xiong, Hongxia Ma, Guangfu Jin, Feng Chen, Jianfeng Xu, Xinru Wang, Zuomin Zhou, Zi Jiang Chen, Jiayin Liu, Hongbing Shen, Jiahao Sha

Research output: Contribution to journalArticle

45 Scopus citations

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 â ̂'14) and 6p12.2 (rs13206743, P=3.69 × 10 â ̂'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.

Original languageEnglish (US)
Article number3857
JournalNature communications
Volume5
DOIs
StatePublished - May 23 2014
Externally publishedYes

ASJC Scopus subject areas

  • Chemistry(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Physics and Astronomy(all)

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    Hu, Z., Li, Z., Yu, J., Tong, C., Lin, Y., Guo, X., Lu, F., Dong, J., Xia, Y., Wen, Y., Wu, H., Li, H., Zhu, Y., Ping, P., Chen, X., Dai, J., Jiang, Y., Pan, S., Xu, P., ... Sha, J. (2014). Association analysis identifies new risk loci for non-obstructive azoospermia in Chinese men. Nature communications, 5, [3857]. https://doi.org/10.1038/ncomms4857