A genome-wide association study reveals that variants within the HLA region are associated with risk for nonobstructive azoospermia

Am J Hum Genet. 2012 May 4;90(5):900-6. doi: 10.1016/j.ajhg.2012.04.001. Epub 2012 Apr 26.

Abstract

A genome-wide association study of Han Chinese subjects was conducted to identify genetic susceptibility loci for nonobstructive azoospermia (NOA). In the discovery stage, 802 azoospermia cases and 1,863 controls were screened for genetic variants in the genome. Promising SNPs were subsequently confirmed in two independent sets of subjects: 818 azoospermia cases and 1,755 controls from northern China, and 606 azoospermia cases and 958 controls from central and southern China. We detected variants at human leukocyte antigen (HLA) regions that were independently associated with NOA (HLA-DRA, rs3129878, p(combine) = 3.70 × 10(-16), odds ratio [OR] = 1.37; C6orf10 and BTNL2, rs498422, p(combine) = 2.43 × 10(-12), OR = 1.42). These findings provide additional insight into the pathogenesis of NOA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Asian Continental Ancestry Group / genetics
  • Azoospermia / epidemiology*
  • Azoospermia / genetics*
  • Case-Control Studies
  • China / epidemiology
  • Female
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study / methods*
  • HLA Antigens / genetics*
  • Humans
  • Male
  • Odds Ratio
  • Polymorphism, Single Nucleotide
  • Risk Factors

Substances

  • HLA Antigens