Genetic susceptibility to chronic obstructive pulmonary diseasein Koreans: combined analysis of polymorphic genotypes for microsomalepoxide hydrolase and glutathione S-transferase M1 and T1

摘要

BACKGROUND—Although smoking is the major causal factor in the development of chronic obstructive pulmonary disease (COPD), only 10-20% of chronic heavy cigarette smokers develop symptomatic COPD which suggests the presence of genetic susceptibility. This genetic susceptibility to COPD might depend on variations in enzyme activities that detoxify cigarette smoke products such as microsomal epoxide hydrolase (mEPHX) and glutathione-S transferase (GST). As there is increasing evidence that several genes influence the development of COPD, multiple gene polymorphisms should be investigated to find out the genetic susceptibility to COPD.
METHODS—The genotypes of 83 patients with COPD and 76 healthy smoking control subjects were determined by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (PCR-RFLP) for the mEPHX gene, and multiplex PCR for GST M1 and GST T1 genes. The frequencies of polymorphic genotypes of mEPHX, GST M1, and GST T1 genes were compared both individually and in combination in patients with COPD and healthy smokers.
RESULTS—No differences were observed in the frequency of polymorphic genotypes in exons 3 and4 of mEPHX, GST M1, and GST T1 genes between patients with COPD andhealthy smokers. The frequencies of any combination of these genotypesalso showed no differences between the COPD group and the control group.
CONCLUSIONS—Geneticpolymorphisms in mEPHX, GST M1, and GST T1 genes are not associatedwith the development of COPD in Koreans.