Objective: To study the role of α(1)AT and TIMP-1 gene polymorphisms in development of COPD.
Design and methods: Blood samples from total 408 subjects (217 COPD patients and 191 controls) were used for genotyping and estimating biolevels of α(1)AT, TIMP-1 and inflammatory cytokines. Data was analyzed to determine the role of interaction of TIMP-1 and α(1)AT genes; and interplay between various genotypes and biolevels of α(1)AT, TIMP-1 and inflammatory cytokines in development of COPD.
Results: Significantly low levels of α(1)AT and TIMP-1 were observed in COPD patients as compared to controls (P = 0.001), where as the inflammatory cytokines were found to be increased in patients. PIM3 allele of α(1)AT gene in COPD patients was found to be associated with low levels of α(1)AT (P = 0.001), the effect being more pronounced when PIM3 combined with rs6609533 of TIMP-1 gene (P = 0.0001). Combination of genotypes rs6609533 of TIMP-1 and PIM3 of α(1)AT containing the risk alleles was over-represented in patients (P = 0.005).
Conclusion: The SNP rs6609533 of TIMP-1 gene interacted with PIM3 of α(1)AT to make a possible risk combination for development of COPD.
Copyright © 2011 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.