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Polymorphisms for microsomal epoxide hydrolase and genetic susceptibility to COPD
Jong Y Park1, Lan Chen, Nina Wadhwa
1Division of Cancer Prevention and Controls, Molecular Screening Section, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL 33612, USA. parkj@moffitt.usf.edu
International Journal of Molecular Medicine
|February 11, 2005
Summary
Genetic variations in the epoxide hydrolase (EH) enzyme, specifically EH codon 113, may increase susceptibility to developing chronic obstructive pulmonary disease (COPD) in smokers. This finding highlights potential genetic factors influencing COPD development beyond smoking alone.
Area of Science:
- Genetics
- Pulmonology
- Biochemistry
Background:
- Smoking is the primary cause of chronic obstructive pulmonary disease (COPD), but only a fraction of smokers develop the condition, indicating genetic susceptibility.
- Microsomal epoxide hydrolase (EH) is an enzyme involved in metabolizing reactive epoxides, and its polymorphic alleles may influence COPD risk.
- EH codon 113 and 139 polymorphisms are investigated for their potential role in COPD development.
Purpose of the Study:
- To investigate the association between EH gene polymorphisms (codons 113 and 139) and the risk of developing COPD.
- To determine if specific EH genotypes modify COPD risk in a Caucasian population.
Main Methods:
- A case-control study comparing 131 COPD patients with 262 age-matched controls.
- Genomic DNA was analyzed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) to identify EH codon 113 and 139 polymorphisms.
- Statistical analysis included odds ratios, confidence intervals, and trend tests.
Main Results:
- The EH(113His/His) genotype was associated with a significantly increased risk of COPD (OR=2.4, 95% CI=1.1-5.1).
- A significant trend towards increased COPD risk was observed with less protective EH codon 113 genotypes (p=0.03).
- No significant association was found for EH codon 139 polymorphism. Smoking dose correlated significantly with COPD severity (p<0.001).
Conclusions:
- EH codon 113 polymorphism may be a genetic factor that modifies the risk of developing COPD in smokers.
- EH codon 139 polymorphism does not appear to be associated with COPD risk.
- Genetic predisposition, in conjunction with smoking, likely plays a crucial role in COPD pathogenesis.