Zemfira R. Sufyanova

Today, infectious diseases occupy a leading position among other diseases causing concerns among the population, leading to a decrease in work capacity and a number of serious complications. Monitoring infectious diseases and preparing for future outbreaks is crucial for the development of genetic epidemiology and public health in general. In this study, we analyzed the allele and genotype frequency distribution of the rs10774671 (G>A) variant of the OAS1 gene, previously associated with infectious diseases, in subpopulations of Bashkirs and Tatars living in the Volga-Ural region. We paid special attention to the study of subpopulations to obtain the most accurate results of the frequency distribution of this locus in such large populations as Bashkirs and Tatars. A study of the allele and genotype distribution of the rs10774671 genetic variant of the OAS1 gene was conducted using PCR followed by RFLP analysis. A pairwise comparison of allele frequencies between the studied populations revealed statistically significant differences between the Permsky Bashkirs subpopulation and the Askinsky, Burzyansky and Orenburgsky Bashkirs subpopulations (p<0.05). The Ewens-Watterson test for the total Bashkirs sample, including all the studied subpopulations, demonstrated the presence of balancing selection (Fo=0.5405, Fe=0.6461, p<0.05). A separate analysis of each subpopulation revealed the effect of balancing selection on the Orenburgsky Bashkirs (Fo=0.4375, Fe=0.5957, p<0.05). These results will add to our knowledge of the distribution of the rs10774671 genetic variant of the OAS1 gene in populations worldwide.

Introduction. High-altitude conditions are a factor of natural selection that affects the physiological and genetic mechanisms of human adaptation to hypoxia. One of the genes involved in the regulation of the cellular response to oxygen deficiency is HIF1A. The rs11549465 polymorphic variant of this gene results in a Pro582Ser substitution and is characterized by functional differences, which makes it of interest for study in population and adaptive contexts. Goals. The study aims to investigate the distribution of alleles and genotypes of the rs11549465 polymorphic variant of the HIF1A gene in Balkar and Karachay populations, and to assess its possible association with adaptation to high-altitude hypoxia. Materials and methods. DNA isolated from peripheral blood samples of representatives of two populations of the North Caucasus has been used as research material: Balkars (N=100) and Karachays (N=99). A comparative analysis of the frequencies of alleles and genotypes of rs11549465 performed between the studied populations. Results. The C allele predominated in both studied populations, while the frequency of the T allele varied between the samples. Statistically significant differences were identified between the Balkar and Karachay populations. The distribution of the T allele did not demonstrate a direct dependence on the historical association of the populations with high-altitude territories. Conclusions. The results obtained indicate interpopulation differentiation of rs11549465 among the studied peoples of the North Caucasus. The identified differences do not allow a causal relationship between rs11549465 and adaptation to high-altitude conditions to be established; however, the functional significance of this variant indicates the potential for further investigation of its possible role in adaptation to hypoxia.

Introduction. The geographical feature of the Volga-Ural region is its location on the border of Europe and Asia, which, together with the proximity to the Caspian steppes, Ciscaucasia and Siberia, facilitated as the formation of many migration and trade routes connecting these regions in different historical periods, which in turn affected the ethnogenesis of the peoples of the region. Genetic features underlying the inheritance of human pigmentation features are the subject of active study by molecular and population geneticists. Goals. The work aims to study the distribution of alleles and genotypes of polymorphic variants rs12913832 of the HERC2 gene and rs1042602 of the TYR gene in the Mordvin and Udmurt populations. Materials and methods. The investigated material includes DNA isolated from the peripheral blood of Udmurts (N = 95) and Mordvins (N = 59). Blood sampling was performed after signing an informed consent to participate in the scientific study. A comparative analysis was conducted between the studied populations and populations of the world. Results. Our study revealы statistically significant differences (p≤0.05) in the distribution of allele frequencies and genotypes of polymorphic variants of rs12913832 of the HERC2 gene and rs1042602 of the TYR gene in the Mordvin and Udmurt populations. The results of the study are consistent with the data of anthropologists on the analyzed ethnic groups and are an important link in the study of the ethnogenesis of the Finno-Permian populations of Russia. Conclusions. These features of the distribution of allele frequencies of melanogenesis genes in the Mordvins and Udmurts should be taken into account in population genetic, ethnological, as well as in associative and pharmacogenetic studies.