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Features of the distribution of allelic frequencies VDR rs1544410 and ApoE rs769452 among the indigenous population of southern Siberiaстатья Тезисы
- Авторы: Ostroukhova I.O., Lavryashina M.B., Ulyanova M.V., Kozlov A.I.
- Журнал: Известия Института антропологии МГУ
- Номер: 4
- Год издания: 2018
- Первая страница: 47
- Последняя страница: 48
- Аннотация: The Shors, who lived in conditions of relative isolation until the middle of the twentieth century, are now rapidly urbanized (citizens - at least 80%). The assimilation of the Shors by the predominantly Russian population is increasing, the traditional food is replaced by the “Westernized”. Until recently, the Shors belonging to the economic and cultural type of hunters and gatherers, as well as the peculiarities of the natural and climatic conditions of Southern Siberia (relatively high level of insolation), determine the interest in the study of the distribution of allelic variants of the VDR and АpoE genes in the population. The VDR gene encodes the nuclear receptor for vitamin D (a family of regulatory transcription factors with a broad spectrum of biological effects), and in connection with the ApoE4 gene (apolipoprotein E4 - apo protein, which plays a multifunctional role in the metabolism of lipoproteins, including low and very low density) is discussed the concept of "economical genotype". The study included Shors and descendants from mixed marriages (n = 70) from the following local groups: Ust-Anzas, Ust-Kabyrza, Klyuchevoy, Chilis-Anzass, Shalym and Tashtagol town, Tashtagol district, Kemerovo region. Upon receipt of informed consent to the study, blood samples and genealogical data were collected. Genomic DNA was isolated by the method of phenol-chloroform extraction. Genotyping was performed using Real-Time PCR. The frequencies of allelic variants of VDR rs1544410 (SNV G → A in intron 8, BsmI) and ApoE rs769452 (SNV C → T in exon 3, Leu28Pro, APO * 4P) linked to the ApoE * e4 allele were studied. Comparison of our results with the materials of the ALFRED and 1000 Genomes Project open data bases showed that the frequency of the ancestral alley G in the VDR gene among the Shors (0.650) is close to that of the Russians (0.670), Bashkirs (0.679), Volga Tatars (0.691) and significantly lower (p <0.05) than among Tuvinians (0.852), Yakuts (0.887), as well as the peoples of Mongolia, China and Korea (frequency 0.9 and higher). The VDR * A allele is associated with increased expression of the gene product and an increase in the serum level of 1.25 (OH) 2D compared to variant G. Since both alleles are approximately equal in European populations and G prevails in Asian populations, the apparent convergence of allele frequencies in Shors with Caucasoid groups can be a consequence of both the influence of climatic factors and the result of the introduction of “Russian genes”. The exclusion from the sample of descendants from mixed marriages somewhat shifted the gene frequencies in the direction of convergence with the population of the Asian region (G = 0.683). As for ApoE rs769452, the frequency associated with a change in the protein structure of the T allele in the Shors was extremely high (0.029) - the world maximum was detected. Only Finns have relatively close values (0.015), while in most populations of the world, the frequency of ApoE * T ranges from 0 to 0.005. ApoE * T is known to act on serum lipoproteins by lowering cholesterol, apoB and apoA-I compared to ApoE * C. The planned increase in the sample size will eliminate stochastic processes and clarify the population frequencies rs1544410 and rs769452 for the Shors. Supported by grants of the Russian Foundation for Basic Research 18-09-00487, 18-013-00942.
- Добавил в систему: Козлов Андрей Игоревич