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Association analysis identifies new risk loci for non-obstructive azoospermia in Chinese men. Nat Commun 2014 May 23;5:3857



Pubmed ID




Scopus ID

2-s2.0-84901413791 (requires institutional sign-in at Scopus site)   63 Citations


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.

Author List

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, Luo K, Du Q, Yao B, Liang M, Gui Y, Weng N, Lu H, Wang Z, Zhang F, Zhu X, Yang X, Zhang Z, Zhao H, Xiong C, Ma H, Jin G, Chen F, Xu J, Wang X, Zhou Z, Chen ZJ, Liu J, Shen H, Sha J


Jing Dong PhD Assistant Professor in the Medicine department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Drosophila Proteins
Drosophila melanogaster
Genetic Loci
Genetic Predisposition to Disease
Genome-Wide Association Study
Infertility, Male
Polymorphism, Single Nucleotide
Reproducibility of Results
Risk Factors