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 alpha1AT gene with COPD.


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.


CONCLUSIONS
The PIM3 allele of the alpha1AT gene is found to have an association with the pathogenesis of COPD in the Indian population.
Gupta
J
J
Institute of Genomics and Integrative Biology, Mall Road, University Campus, Delhi-110007, India.
Bhadoria
D P
DP
Lal
M K
MK
Kukreti
R
R
Chattopadhaya
D
D
Gupta
V K
VK
Dabur
R
R
Yadav
V
V
Chhillar
A K
AK
Sharma
G L
GL
D000328:Adult; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012907:Smoking / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000235:genetics*
D000515:alpha 1-Antitrypsin