Abstract
COPD is a chronic disease of the lung that is associated with abnormal chronic inflammation in the airways and development of extensive tissue remodeling. MMPs are proteolytic enzymes that play an essential role in tissue remodeling. Polymorphisms in MMP gene promoters have been found to alter transcriptional activity. Particularly, 2G allele of -1607insG polymorphism of MMP1 has been associated with augment transcription of MMP-1, whereas 6A allele of -1171insA polymorphism of MMP3 – with reduced gene expression.
The aim of our work was to investigate whether the insertion-deletion polymorphisms of MMP1 (-1607insG) and MMP3 (-1171insA) have a role as risk factors for developing and progression of COPD. We genotyped 163 Bulgarian patients with COPD and 172 control individuals using PCR-RFLP-based methods.
The analyses showed no significant difference in both MMP1 and MMP3 genotype and allele distribution between controls and patients with COPD. We did not find correlation of the genotypes with the age of disease onset, however the COPD patients homozygous for 2G allele (2G/2G) of MMP1 had, although not significantly, lower values of the spirometric index FEV1% pr. (49.83±14%) compared to the patients with other genotypes (52.37±16, p=0.375). In particular, this difference was higher, reaching a statistical significance, in the subset of patients with smoking history (44.18±13 vs. 50.91±14, p=0.034).
Our data suggest that -1607 2G allele of MMP1 gene and -1171 6A allele of MMP3 gene do not represent risk factors for development of COPD, however the homozygous 2G/2G genotype of MMP1 seems to affect the lung function, especially of smokers, possibly by enhancing MMP1 gene expression.
- © 2011 ERS
