The role of polymorphism of the genes COL1A1, MMP12, EPHX1 in osteoarthritis and cardiovascular comorbidity

Aim: to analyze polymorphic variants of genes of connective tissue remodeling, biotransformation and their role in the development of cardiovascular comorbidity and osteoarthritis (OA). Material and Methods. The study included 70 patients with OA. As a control group, 30 patients without OA of comparable sex and age were included in the study. All patients were assessed total (absolute) cardiovascular risk according to the SCORE scale. The pain was assessed by visual analog pain scale. The physical dysfunction was assessed on a WOMAC scale. Single-nucleotide polymorphisms of the genes COL1A1 (rs1107946), EPHX1 (rs1051740), MMP12 (rs652438) were studied by PCR-RT. Results. In patients with OA, there is a twofold increase in the frequency of the heterozygous genotype of the GT gene COL1A1. The presence of the T allele of the COL1A1 gene is a risk factor for the development of OA. Patients with OA have a fourfold increase in the frequency of genotype AG of the MMP12 gene. The patients with severe pain significantly present the difference in the distribution of allele frequencies of the polymorphic locus G1997T of the COL1A1 gene from the control sample. The frequencies of heterozygous genotypes COL1A1 and MMP12 differed significantly in patients with different cardiovascular risk. Conclusion. The results partially confirm the integration theory of the pathogenesis of OA, suggest the existence of general mechanisms of connective tissue remodeling.