Journal
NATURE COMMUNICATIONS
Volume 5, Issue -, Pages -Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ncomms4857
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Funding
- National Key Basic Research Program [2013CB945700, 2011CB944304, 2013CB911400, 2011CB944504, 2012CB966600, 2010CB945200]
- Chinese Natural Science Funds [81222006]
- National Science Foundation for Distinguished Young Scholars of China - Priority Academic Program Development of Jiangsu Higher Education Institutions [81225020]
- Key Project of Shanghai Municipal Science and Technology [10JC1409900]
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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.
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