Abstract
Background: Pathogenesis of chronic obstructive lung disease (COPD) includes primary inflammatory events, activation of cytokines, and collagenolysis, thus causing increased remodeling of bronchial tissues and vascular walls. The
Aims: Aims of present study were to test possible associations between some common functional gene variants and prevalence of typical clinical symptoms in COPD.
Patients and methods: The study involved seventy-three patients with COPD (44 to 86 years old, a mean of 61 years). Clinical diagnostics was performed by common criteria, including evaluation of bronchial and endothelial dysfunction. Genotyping of matrix metalloproteinase genes, i.e., MMP-1 (1G/2G-1607), MMP-3 (5A/6A-600); SERT gene (5-HTT HTTLPR, S/L variants), and ACE-I I/D gene polymorphisms was performed by standard PCR.
Results: Allelic distribution of the studied genes among COPD patients did not differ from general population. Respiratory insufficiency grade was associated with hyperactive L allele of serotonin transporter gene (5-HTT). Pulmonary hypertension (≥40 mm) correlated with 1G/1G genotype of matrix metalloproteinase-1 (MMP-1) gene, but not with S genotype of 5-HTT gene. Among patients with bronchial dyskinesia, higher frequency of MMP-3 5A/5A genotype was revealed. Endothelial dysfunction showed a highly significantly correlation with “high-producer” D allele of ACE-I gene.
Conclusions: Preliminary findings suggest a significance of common gene variants modulating collagenolysis, vascular responses/hemostasis, and endothelial functions, in COPD.
- © 2011 ERS