Meta-analyses on suspected chronic obstructive pulmonary disease genes: a summary of 20 years' research

Am J Respir Crit Care Med. 2009 Oct 1;180(7):618-31. doi: 10.1164/rccm.200905-0722OC. Epub 2009 Jul 16.


Rationale: Chronic obstructive pulmonary disease (COPD) is a complex disorder with high mortality worldwide. Studies on the role of candidate genes and their polymorphisms in COPD development have so far produced ambiguous results.

Objectives: The aim of this study was to reveal the role of COPD candidate genes using data collected in previous research.

Methods: We performed meta-analyses on 20 polymorphisms in 12 genes, after searching the PubMed and Embase databases for publications on COPD. These genes involve three main pathways associated with COPD development: the inflammatory, protease-antiprotease balance, and antioxidant pathways.

Measurements and main results: We obtained significant results for three TGFB1 polymorphisms, although these were based only on a few studies. The IL1RN VNTR polymorphism increases the risk for COPD (odds ratio [OR], 1.7; 95% confidence interval [CI], 1.09-2.65), whereas the TNFA -308 G/A polymorphism does so only in Asian populations (OR, 2.01; 95% CI, 1.21-3.31). The GSTP1 I105V polymorphism was protective for COPD in Asian populations only (OR, 0.69; 95% CI, 0.56-0.85).

Conclusions: These results demonstrate the importance of ethnicity in identifying specific COPD genes.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Antioxidants
  • Asian Continental Ancestry Group / ethnology
  • Asian Continental Ancestry Group / genetics
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Inflammation / ethnology
  • Inflammation / genetics
  • Oxidative Stress / genetics
  • Peptide Hydrolases / genetics
  • Polymorphism, Genetic* / genetics
  • Protease Inhibitors
  • Pulmonary Disease, Chronic Obstructive / ethnology
  • Pulmonary Disease, Chronic Obstructive / genetics*


  • Antioxidants
  • Protease Inhibitors
  • Peptide Hydrolases