A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia

Nat Genet. 2011 Dec 25;44(2):183-6. doi: 10.1038/ng.1040.

Abstract

Non-obstructive azoospermia (NOA) is one of the most severe forms of male infertility. Its pathophysiology is largely unknown, and few genetic influences have been defined. To identify common variants contributing to NOA in Han Chinese men, we performed a three-stage genome-wide association study of 2,927 individuals with NOA and 5,734 controls. The combined analyses identified significant (P < 5.0 × 10(-8)) associations between NOA risk and common variants near PRMT6 (rs12097821 at 1p13.3: odds ratio (OR) = 1.25, P = 5.7 × 10(-10)), PEX10 (rs2477686 at 1p36.32: OR = 1.39, P = 5.7 × 10(-12)) and SOX5 (rs10842262 at 12p12.1: OR = 1.23, P = 2.3 × 10(-9)). These findings implicate genetic variants at 1p13.3, 1p36.32 and 12p12.1 in the etiology of NOA in Han Chinese men.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian Continental Ancestry Group / genetics*
  • Azoospermia / genetics*
  • Case-Control Studies
  • Chromosomes, Human, Pair 1 / genetics
  • Chromosomes, Human, Pair 12 / genetics
  • Genetic Loci*
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Humans
  • Male
  • Nuclear Proteins / genetics
  • Peroxins
  • Polymorphism, Single Nucleotide
  • Protein-Arginine N-Methyltransferases / genetics
  • Receptors, Cytoplasmic and Nuclear / genetics
  • Risk
  • SOXD Transcription Factors / genetics

Substances

  • Nuclear Proteins
  • PEX10 protein, human
  • Peroxins
  • Receptors, Cytoplasmic and Nuclear
  • SOX5 protein, human
  • SOXD Transcription Factors
  • PRMT6 protein, human
  • Protein-Arginine N-Methyltransferases