Association of the PIM3 allele of the alpha-1-antitrypsin gene with chronic obstructive pulmonary disease

Objective: The study investigated the association of genetic polymorphism of the a, AT gene with COPD. Design and methods: The mutations and polymorphism of a I AT gene were investigated by DNA sequence analysis using polymerase chain reaction. Results: The frequency of the PIM3 allele in COPD patients was found to be significantly higher than the controls (P < 0.0001). Five SNPs, including a novel SNP (24_25insA), were observed near the junction of exon-intron I. The occurrence of these SNPs didn't show any association with COPD. However, the PIM3 allele of the alpha(1) AT gene was found to be associated with COPD. Conclusion: The PIM3 allele of the alpha(1) AT gene is found to have an association with the pathogenesis of COPD in the Indian population. (c) 2005 The Canadian Society of Clinical Chemists. All rights reserved.