Related Experiment Videos
Genetic risk factors for chronic obstructive pulmonary disease
Andrew J Sandford1, Ladina Joos, Peter D Paré
1University of British Columbia Pulmonary Research Laboratories/iCAPTURE Center, St. Paul's Hospital, Vancouver, British Columbia, Canada. asandford@mrl.ubc.ca
Current Opinion in Pulmonary Medicine
|February 15, 2002
Summary
Genetic factors play a role in chronic obstructive pulmonary disease (COPD) development. While smoking is a major risk, specific gene variants, like alpha1-antitrypsin, are key to understanding COPD susceptibility.
Area of Science:
- Pulmonary Medicine
- Genetics
- Environmental Health
Background:
- Cigarette smoking is the primary risk factor for chronic obstructive pulmonary disease (COPD).
- However, only a subset of smokers develop COPD, suggesting other contributing factors.
- Family and twin studies indicate a significant genetic component in COPD pathogenesis.
Purpose of the Study:
- To review genes investigated as potential risk factors for COPD.
- To focus on recent literature regarding genetic contributions to COPD.
- To elucidate the genetic basis of COPD susceptibility.
Main Methods:
- Literature review of genetic risk factors for COPD.
- Analysis of recent research on gene variants and COPD.
- Synthesis of evidence on genetic predispositions to COPD.
Main Results:
- Homozygosity for the Z allele of the alpha1-antitrypsin gene is the only established genetic risk factor for COPD.
- Evidence suggests heterozygotes for the Z allele may also face increased COPD risk.
- Variants in genes related to xenobiotic metabolism, antioxidation, and inflammation are associated with COPD.
Conclusions:
- The genetic basis of COPD is increasingly understood.
- Multiple genes are likely implicated in the development of COPD.
- Genetic factors, in conjunction with smoking, determine individual COPD risk.