Genetic analysis of IREB2, FAM13A and XRCC5 variants in Chinese Han patients with chronic obstructive pulmonary disease

Biochem Biophys Res Commun. 2011 Nov 18;415(2):284-7. doi: 10.1016/j.bbrc.2011.10.042. Epub 2011 Oct 18.


Recently, variants (rs2568494, rs2869967 and rs3821104) in the IREB2, FAM13A and XRCC5 genes were found to be associated with chronic obstructive pulmonary disease (COPD) in non-Asian populations by genome-wide association study (GWAS) analysis. To evaluate whether variants in these genes are related to COPD in Chinese Han population, we investigated COPD patients of Chinese Han ethnicity from Mainland China. Significant differences in genotypic distributions (χ(2)=6.319, p=0.042 for rs2869967; χ(2)=6.062, p=0.048 for rs3821104) and allele distributions (χ(2)=4.014, p=0.045 for rs2869967; χ(2)=5.607, p=0.018 for rs3821104) were observed between patients and control subjects for variants rs2869967 and rs3821104, whereas no statistically significant associations for genotypic and allelic distribution between IREB2 rs2568494 and COPD phenotype (p>0.05) were identified. Our results support that FAM13A rs2869967 and XRCC5 rs3821104 are associated with COPD in Chinese Han population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Asian People / genetics
  • China
  • DNA Helicases / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Iron Regulatory Protein 2 / genetics*
  • Ku Autoantigen
  • Male
  • Membrane Proteins
  • Middle Aged
  • Neoplasm Proteins / genetics*
  • Pulmonary Disease, Chronic Obstructive / genetics*


  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • Neoplasm Proteins
  • RETREG1 protein, human
  • DNA Helicases
  • XRCC5 protein, human
  • Iron Regulatory Protein 2
  • Ku Autoantigen