A functional polymorphism in the CHRNA3 gene and risk of chronic obstructive pulmonary disease in a Korean population

J Korean Med Sci. 2012 Dec;27(12):1536-40. doi: 10.3346/jkms.2012.27.12.1536. Epub 2012 Dec 7.

Abstract

A genome-wide association study has identified the 15q25 region as being associated with the risk of chronic obstructive pulmonary disease (COPD) in Caucasians. This study intended as a confirmatory assessment of this association in a Korean population. The rs6495309C > T polymorphism in the promoter of nicotinic acetylcholine receptor alpha subunit 3 (CHRNA3) gene was investigated in a case-control study that consisted of 406 patients with COPD and 394 healthy control subjects. The rs6495309 CT or TT genotype was associated with a significantly decreased risk of COPD when compared to the rs6495309 CC genotype (adjusted odds ratio = 0.69, 95% confidence interval = 0.50-0.95, P = 0.023). The effect of the rs6495309C > T on the risk of COPD was more evident in moderate to very severe COPD than in mild COPD under a dominant model for the variant T allele (P = 0.024 for homogeneity). The CHRNA3 rs6495309C > T polymorphism on chromosome 15q25 is associated with the risk of COPD in a Korean population.

Keywords: CHRNA3; Polymorphism; Pulmonary Disease, Chronic Obstructive.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Asian People / genetics*
  • Case-Control Studies
  • Female
  • Forced Expiratory Volume
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Odds Ratio
  • Polymorphism, Single Nucleotide*
  • Pulmonary Disease, Chronic Obstructive / genetics*
  • Pulmonary Disease, Chronic Obstructive / physiopathology
  • Receptors, Nicotinic / genetics*
  • Republic of Korea
  • Risk Factors
  • Smoking

Substances

  • Receptors, Nicotinic
  • nicotinic receptor subunit alpha3