Source: Annual Congress 2005 - COPD pathogenesis: new insights
Disease area: Airway diseases

Abstract

Although smoking is regarded as the most important causal factor of COPD, only 10-20 % of cigarette smokers develop clinically significant airway obsturction, suggesting that genetic factors may play an important role in determining susceptibility to COPD. Significant alpha1-antitrypsin (A1AT) defeciency is a well known risk factor for COPD. Recently, a number of investigators reported that M1(Ala) and M2 variants of A1AT have a significantly lower elastase inhibitor capacity as compared with the M1(Val) variant, suggesting that the M1(Ala) and M2 variants may play a role in the pathogenesis of COPD. We conducted a case-control study to evaluate the association between the genotypes of A1AT and COPD in male smokers. The study population consisted opf 89 male COPD patients and 104 helathy males. A1AT genotypes were determined by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP). When the M1(Val)/M1(Val) genotype was used as the reference group, M2 allele which included M1(Val)/M2 and M2/M2 genotype was associated with a borderline significant increased risk for COPD (adjusted OR=1.79, 95% CI=0.94-3.39, 0.076). These results suggest that the M2 allele may contribute to genetic susceptibility to COPD in Korean men.

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S. I. Cha, E. J. Kim, J. H. Park, C. H. Kim, T. H. Jung, J. Y. Park (Daegu, Republic Of Korea). M2 allele of alpha1-antitrypsin gene and genetic susceptibility to COPD in Korean men. Eur Respir J 2005; 26: Suppl. 49, 2836

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