Role of and genes polymorphisms in the pathogenesis of stroke of the Erzya population in the Republic of Mordovia

Abstract

To determine the frequency of GPIIIa and eNOS genes polymorphisms in patients with ischemic stroke in the Erzya population in the Republic of Mordovia. An open, prospective, randomized study included 4 groups: 1) Erzya with ischemic stroke (main group, n=65), 2) Russians with ischemic stroke (comparison group, n=60), 3) Erzya healthy volunteers (control-1, n=63), 4) Russian healthy volunteers (control-2, n=61). T1565C polymorphism of GPIIIa gene (rs5918) and G894T polymorphism of eNOS gene (rs1799983) were determined by real-time PCR. In the population of healthy Erzya, the accumulation of mutant alleles of the GPIIIa gene was observed with less frequency than in healthy Russians, however, in the absence of differences in the frequency of homozygous carriage of both mutant and normal alleles, in the Erzya, the accumulation of the mutant allele in heterozygous genotypes prevailed. In patients with stroke, the probability of detecting the allele C of the GPIIIa gene in the Erzya was significantly higher than in the Russians, as was the likelihood of heterozygous carriage of the C/T genotype. No differences between eNOS allele frequencies were found between the groups of healthy Erzya and Russian volunteers. The higher frequency of the mutant allele T was found in Russian patients with stroke while the heterozygous carriage of the G/T genotype, which had an unfavorable prognostic value, predominated in the Erzya.