PT  - JOURNAL ARTICLE
AU  - Natalia Kuzubova
AU  - Alexey Chukhlovin
AU  - Elena Morosova
AU  - Areg Totolian
AU  - Olga Titova
TI  - Common functional variants of MMP-1, MMP-3, ACE-1 and 5-HTT genes are associated with distinct symptoms in COPD
DP  - 2011 Sep 01
TA  - European Respiratory Journal
PG  - 1736
VI  - 38
IP  - Suppl 55
4099  - http://erj.ersjournals.com/content/38/Suppl_55/1736.short
4100  - http://erj.ersjournals.com/content/38/Suppl_55/1736.full
SO  - Eur Respir J2011 Sep 01; 38
AB  - 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. TheAims: 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.