Researching the C1772T polymorphism of the HIF1a gene in patients with ischemic stroke in the mordovan population

Abstract

Background. Currently, in the field of molecular genetic research, the study of gene polymorphisms remains relevant. These studies are being conducted to identify a person’s genetic predisposition to various diseases, which can subsequently be used to develop and implement personalized measures of primary prevention and treatment. The purpose of this work is to study the frequency of occurrence of polymorphism in patients with ischemic stroke in the Mordovian population. The work also carried out a comparative analysis of the data obtained with data from literature sources. Materials and methods. In this work, the peripheral blood of donors (control group, n=30) and people who suffered an ischemic stroke (experimental group, n=61) with the anticoagulant K3EDTA was taken as biological material. DNA was isolated using the DNA-extran-1 reagent kit (Syntol, Russia) according to the manufacturer’s protocol. Real-time PCR was performed using a set of reagents to determine the C/T polymorphism of the HIF1A gene (rs11549465) (Sintol, Russia). Statistical analysis was performed using Gen-Expert, calculating the odds ratio (OR) and its 95% confidence interval (95% CI), as well as the non-parametric χ2 test. Results. Carriage of the mutant TT genotype was not detected in either the control or experimental groups. CC and CT genotypes were identified in both groups. The frequency of occurrence of the heterozygous genotype in people who suffered an ischemic stroke is 1,2 times higher than in the control group (19,7% versus 16,7%, χ2 = 0,12; p = 0,94), while we did not a statistically significant associative relationship was revealed between this genotype and ischemic stroke (OR = 1,22; 95%CI = 0,39-3,86). Conclusions. According to the literature, when considering the role of polymorphism in the pathogenesis of ischemic stroke, the presence of polymorphism increases the risk of developing ischemic stroke, from which we can conclude that the adaptive properties of cells to hypoxic-ischemic damage decrease. However, our results contradict the literature data. Based on the results obtained, we can draw a general conclusion that there is no relationship between the increased risk of developing IS and carriage of the polymorphic CT genotype, as well as the T allele, in residents of the Republic of Mordovia.

Keywords

• ischemia
• ischemic stroke
• hif-1
• hif1a
• polymorphism c1772t
• pro582ser