The dissertation is devoted to the study of the frequencies of alleles and genotypes of FokI, BsmI, ApaI, and TaqI polymorphic variants of the vitamin D receptor gene in the population of Sumy region and the search of association of these genotypes with the development of ischemic stroke. It is the first time allelic and genotypic frequencies of polymorphic variants (FokI, BsmI, ApaI, TaqI) of the VDR gene in the Ukrainian population were studied. The influence of single nucleotide polymorphisms in vitamin D receptor gene on the clinical characteristics of ischemic stroke was investigated. The influence of single nucleotide polymorphisms of vitamin D receptor gene on the clinical characteristics of atherothrombotic ischemic stroke was studied. It was determined that in patients who have F/F, b/b, a/a, a/A, and T/T genotypes, statistically significant association between hypertension and IS development exists. There was a relationship between VDR gene polymorphism and impaired lipoprotein metabolism and blood coagulation in patients with ischemic stroke. Patients with stroke male homozygotes A/A polymorphic variant ApaI had lower rates lipoprotein metabolism (cholesterol in lipoprotein composition of different densities: low - 2.51±0.26 mmol/L, very low - 0.59±0.06 mmol/L, and high - 1.16±0.06 mmol/L; triglycerides - 1.30±0.14 mmol/L, atherogenic index - 313±0.57), than patients with genotypes a/A and a/a, and in homozygotes B/B polymorphic variant BsmI, cholesterol as part of lipoproteins very low density (0.53±0.06 mmol/L) and triglycerides (1.17±0.14 mmol/L) was lower than in carriers of genotype b/B and b/b. Additional factors, such as sex, blood pressure, diabetes, smoking, and blood hypercoagulation, had an impact on association of ApaI polymorphisms with atherogenic dyslipidemia. It was established that the genotypes f/f and B/B polymorphisms FokI and BsmI associated with the hypercoagulable syndrome in patients with ischemic stroke. In homozygotes f/f with ischemic stroke, elevated thrombin time (17.7±0.65 sec.) and decrease in the rate of spontaneous fibrinolysis (466.8±5.5 min.) were recorded in contrast to carriers of genotypes F/F and F/f, and in homozygotes B/B decreased prothrombin time (8.69±0.35 sec.) and thrombin time (15.0±0.48 sec.) and increase the speed of spontaneous fibrinolysis (489.2±8.3 min.) versus b/b and b/B genotypes were recorded. The risk of developing of blood hypercoagulation syndrome was 2.7 times higher in patients homozygous for the A-allele polymorphism AрaI than in homozygotes for the a-allele. It was proven that no association exists between body mass index, smoking and diabetes separately with genotypes of polymorphic variants of the VDR gene and ischemic stroke. An association between ischemic stroke and polymorphic variants of G-7A for MGP gene in females was revealed. It was shown that women with a minor allele homozygote A/A have risk for stroke in 6.6 times is higher than the carriers of main allele (G/A+G/G). Risk of ischemic stroke in patients with genotype A/A polymorphism G-7A gene MGP in 4.9 and 4.5 times is higher than that of homozygotes for the main G-allele in patients with minor allele for FokI and ApaI polymorphic variants of gene VDR.
