Analysis of association Lys198Asn polymorphism of EDN1 gene with risk factors of ischemic atherothrombotic stroke in the Ukrainian population

One of the most important medical and social problems are acute cerebrovascular disorders, among which the most part is ischemic stroke. Known that in the development of stroke leading role belongs to endothelial dysfunction (ED), the main manifestation of which is the metabolic changes of the vascular wall, the release of a significant amount endothelin-1 (EDN1) and the development of vasoconstriction. Therefore, one of the candidate genes, polymorphisms that can be associated with a predisposition to the development of ED and consequently contribute to stroke, is EDN1 gene. In order to improve the prevention of stroke, we decided carry out a study among healthy persons and identify possible susceptibility. The aim of our study was to analyze the association Lys198Asn polymorphism of EDN1 gene with ischemic atherothrombotic stroke (IAS) risk factors in the Ukrainian population.

Материал и методы:

The venous blood of 124 almost healthy donors (63.7% men and 36.3% women; average age 76.7±0.93 years) was used during the study. The main methods of research were the polymerase chain reaction method (PCR-RFLP) followed by analysis of restriction fragment length analysis when allocating of them by electrophoresis in agarose gel. Statistical analysis was examined by using SPSS-17 program.

Результаты:

Results. During genotyping, the correlation of homozygotes by major allele (Lys/Lys), heterozygotes (Lys/Asn) and homozygotes by minor allele (Asn/Asn) amounts to 63.7; 32.3 and 4.0 % was detected. Among the known stroke risk factors belong gender, increased body mass index, high blood pressure and smoking. According to the study, the differences between the averages of all types of blood pressure (systolic, diastolic, pulse and average) in the study group were not significant (P>0.05). The distribution of the three possible genotypes for Lys198Asn polymorphism of EDN1 gene did not differ in persons with normal blood pressure and in people with high blood pressure (P=0.729). Comparing the frequency of Lys198Asn polymorphism of EDN1 gene among men and women statistically significant difference was not found (P=0.705). To assess the association of Lys198Asn polymorphism with susceptibility to IAS, according to BMI study group was divided into two subgroups. Comparing subgroups of individuals with BMI>25 kg/m2 and BMI ≥ 25 kg/m2 relationship between polymorphic variants of the EDN1 gene was not confirmed (P=0.940). When we compared the distribution of Lys198Asn genotypes of smokers and non-smokers we have not received reliable evidence of this association (P=0.372).

Заключение:

Conclusion. There is no proven association in distribution of genotypes according to Lys198Asn polymorphism of EDN1 gene with such risk factors of IAS like gender, increased body mass index, high blood pressure and smoking in Ukrainian population.

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