Objective: The study investigated the association of genetic polymorphism of the alpha1AT gene with COPD.
Design and methods: The mutations and polymorphism of alpha1AT 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 alpha1AT gene was found to be associated with COPD.
Conclusion: The PIM3 allele of the alpha1AT gene is found to have an association with the pathogenesis of COPD in the Indian population.