Features of Distribution of the Allelic Variant of the OAS1 Gene Associated with Severe Form of the Coronavirus Infection in the Russian and Global Populations.

The study of the geographic distribution of the allelic variant of the OAS1 gene associated with severe form of the infections caused by RNA viruses was carried out using the rs10774671 polymorphic locus. The mutant allele encoding the p42 protein isoform was most prevalent in the Russian populations. A comparative analysis of the prevalence of the mutant allele in world populations showed that its frequency is 0.9 among the inhabitants of Northern Eurasia, while the allele encoding the p46 protein isoform is widespread among the population of West Central Africa. A cartographic analysis of the relationship between the population-frequency characteristics of the marker alleles and the geographical remoteness of the populations showed that the mutant allele is most often observed in the indigenous populations of the Far East, which suggests its East Asian origin.

Analysis of the Frequency of 10 Polymorphic Markers of CDKN2A and RB1 Genes in Russian Populations.

The study of population frequencies of rare clinically significant alleles is a prerequisite of the development of personalized medicine. We performed genotyping of 1785 DNA samples from representatives of Russian populations according to 10 benign polymorphic markers of two genes involved in oncogenesis: 3 variants of the CDKN2A gene (rs3731249, rs116150891, and rs6413464) and 7 markers of the RB1 gene (rs149800437, rs147754935, rs183898408, rs146897002, rs4151539, rs187912365, and rs144668210). Genotyping was performed using the Illumina biochip test system. The sample covered 28 populations of the Russian Federation and neighboring countries, which were later combined into 3 groups (Asian, European, and Caucasian). The information from the ALFA (NCBI) project was used as reference for the frequencies of these polymorphisms in the Asian and European populations. It was shown that rare alleles in 8 of 10 studied polymorphic markers are presented in Russian populations of European and Caucasian origin with frequencies that are tens and hundreds of times higher than the available data for Western European populations, and in Russian Asian populations, alternative alleles of 5 markers absent in the Asian population of the ALFA project were found. In the subpopulation of Astrakhan Tatars, exceptionally high frequencies of rare alleles were identified; this requires further study.