Oleshko T. Relationship between polymorphism of endothelin and endothelin receptor genes with the mechanisms of the main manifestations of ischemic stroke

Thesis is dedicated to the study of the effect of Lys198Asn- and C+70G- polymorphic variants of EDN1 and EDNRA genes impact on the development of ischemic atherothrombotic stroke (IAS). The single nucleotide polymorphism of the EDN1 gene is an independent risk factor for the development of ischemic atherothrombotic stroke – in the homozygote for the minor allele, the probability of the onset of IAS is significantly higher than that of the homozygote for the main allele (ORcorrec = 8.059; Рcorrec = 0.001). The influence of the polymorphic site of the EDN1 gene on the development of ischemic atherothrombotic stroke has sexual characteristics. The risk of stroke is higher in women who are carriers of the minor Asn-allele than in the carriers of the main Lys-allele (OR = 2.800; P = 0.009), and in males – the homozygote in the minor allele compared to homozygotes in the main allele (OR = 3.534; Р = 0.034). Analysis of the combined effect of polymorphic sites of endothelin route genes and other known risk factors for atherosclerosis on the IAS development allowed to create a classification model including the polymorphic site of Lys198Asn of the EDN1 gene and arterial hypertension (prognostic significance 62% by MDR method, P = 0.043). The combination of hypertension and carriage of minor Asn-allele in one person is a significant predictor of an increased risk of ischemic atherothrombotic stroke.