There are a lot of convincing evidences about the involvement of endothelin pathway proteins in the pathogenesis of atherosclerosis and its fatal complications. In this study, the analysis of a possible association between EDN1 rs5370 and EDNRA rs5335 gene polymorphisms and the risk of large artery stroke (LAS) in a Ukrainian population was conducted. 200 LAS patients and 200 unrelated controls were enrolled in a case-control study. The polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP) was used for SNP genotyping. Our results revealed that EDN1 rs5370 polymorphism was associated with LAS development both before and after adjustment for atherosclerosis risk factors (sex, age, body mass index, arterial hypertension, type 2 diabetes mellitus, and smoking). The risk for a LAS incident in rs5370-T allele carriers was 1.6 times higher (CI = 1.066–2.403; P = 0.020) than in subjects with the GG genotype. No link between EDNRA rs5335 and LAS risk in a Ukrainian population was found. The present study indicated that EDN1 rs5370, but not EDNRA rs5335, can be the strong genetic predictor for LAS development in a Ukrainian population.

The aim: Investigate the effect of Lys198Asn polymorphism of the EDN1 gene on ischemic atherothrombotic stroke characteristics. Materials and methods: Venous blood of 170 patients with ischemic atherothrombotic stroke (IAS) and 124 patients without cerebrovascular pathology, who made up the control group, used for the study. Lys198Asn (rs5370) polymorphism of the EDN1 gene was determined by the polymerase chain reaction method followed by restriction fragment length analysis. Statistical analysis was performed using SPSS-17.0. The values of Р < 0.05 were considered reliable. Results: An association between the Lys198Asn polymorphism of the EDN1 gene and the IAS development was detected. For Asn/Asn genotype carriers, the risk of IAS developing is 4 times higher than that of homozygotes for the major allele. The association of this polymorphism with the arterial pool, whose atherothrombotic changes lead to the development of IAS, was found in individuals with BMI < 25 kg/m2. Lys198Asn polymorphism also affects the severity of IAS in persons with hypertension and non-smokers. Conclusion: The Lys198Asn polymorphism of the EDN1 gene influences some characteristics of ischemic stroke.

результати визначення зв'язку C+70G (rs5335) поліморфізму гена ендотелінового рецептора типу А (EDNRA) у 170 хворих з ішемічним атеротромботичним інсультом (ІАТІ) і 124 осіб без ознак серцево-судинної патології (контрольна група). Установлено, що співвідношення гомозигот за основним алелем, гетерозигот і гомозигот за мінорним алелем за C+70G поліморфізмом у хворих з ІАТІ становить 24,1; 57,6 і 18,2 %, а в контрольній-29,0; 50,0 і 21,0 % відповідно (P = 0,426 за  2-критерієм). При розподілі кожної з груп на підгрупи за статтю не виявлено статистично значимих відмінностей як у контрольній групі (P = 0,965), так і у групі хворих з ішемічним атеротромботичним інсультом (P = 0,173) Ключові слова: ендотеліновий рецептор типу А, EDNRA, поліморфізм генів, ішемічний інсульт.