ВЛИЯНИЕ ОДНОНУКЛЕОТИДНЫХ ПОЛИМОРФИЗМОВ ГЕНОВ IL1β, EDN1 И NOS3 НА ИНДИВИДУАЛЬНЫЙ ГЕНЕТИЧЕСКИЙ ПРОФИЛЬ ПАЦИЕНТОВ С ИШЕМИЧЕСКОЙ БОЛЕЗНЬЮ СЕРДЦА В РЕСПУБЛИКЕ КРЫМ

Abstract

Abstracts. Introduction. Coronary heart disease prevalence rate grows, which determines the importance of researchers’ inquiries aiming to improve the prevention, diagnosis, and treatment of this pathology. Aim. This study was aimed at identifying the associations of polymorphisms of genes interleukin 1-beta, endothelin-1, and endothelial nitric oxide synthase in patients with coronary heart disease. Materials and Methods. We studied polymorphic markers of endothelin-1 (rs5370), endothelial nitric oxide synthase (rs2070244), and interleukin 1-beta genes (rs1143634 and rs16944) in patients with ischemic heart disease (n=229) and in controls (n=56) by multiplex allele-specific polymerase chain reaction with electrophoretic detection. Odds ratio (OR) was used to state the association of genotypes with the disease; 95% confidence interval limits were calculated to assess the significance of OR. Results and Discussion. Analysis of the T-511C polymorphism in the interleukin 1-beta gene demonstrated a trend towards an increased risk of coronary heart disease associated with the TT genotype in the study group (Odds ratio=2.2, 95%. Confidence interval: 1.3-3.6). At the same time, the CC genotype can be associated with a protective effect (Odds Ratio=0.3, 95%. Confidence Interval: 0.2-0.6). When analyzing the C3953T polymorphism in the interleukin 1-beta gene, the TT genotype showed a significantly increased disease development risk within the pathology under study (Odds Ratio=6.4, 95%. Confidence Interval: 1.7-23.4). Analysis of the polymorphic marker C786T in the NOS3 gene showed a correlation between the TT genotype and susceptibility to coronary heart disease (Odds ratio=2.07, 95%. Confidence interval: 1.3-3.2), while the CC genotype showed a protective effect (Odds ratio=0.3, 95%. Confidence interval: 0.2-0.5). A similar result was obtained in an experiment with the Lys198Asn polymorphism in the endothelin-1 gene. TT genotype showed an association with the increased risk of coronary heart disease (Odds ratio=6.5, 95%. Confidence Interval: 3.4-12.4). Odds ratio analysis of the effect of heterozygotes showed no risk of coronary heart disease (Odds ratio=0.3, 95%. Confidence Interval: 0.1-0.5). Conclusions. This study allowed us to find an association between the polymorphic markers of genes endothelin-1 (rs5370), eNOS (rs2070244), and interleukin-1β (rs114634 and rs16944) and the coronary heart disease risk in the population, which may be useful for both stratification and selection of further therapeutic strategies.