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

The study investigated the association of genetic polymorphism of the α 1 AT gene with COPD. The mutations and polymorphism of α 1 AT gene were investigated by DNA sequence analysis using polymerase chain reaction. 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 α 1 AT gene was found to be associated with COPD. The PIM3 allele of the α 1 AT gene is found to have an association with the pathogenesis of COPD in the Indian population.