2658-6533Research Results in Biomedicine2658-653310.18413/2658-6533-2019-5-2-0-31676GeneticsAnalysis of polymorphic gene loci of antioxidant protection enzymes in three ethnic groups of the Republic of BashkortostanAnalysis of polymorphic gene loci of antioxidant protection enzymes in three ethnic groups of the Republic of BashkortostanKochetovaOlga V.KochetovaOlga V.Olga_mk78@mail.ruKorytinaGulnaz F.KorytinaGulnaz F.guly_kory@mail.ruAhmadishinaLeysan Z.AhmadishinaLeysan Z.ViktorovaTatiana V.ViktorovaTatiana V.vict@mail.ruMustafinaOlga E.MustafinaOlga E.20195200

Background: The ideal dose of drugs varies widely among patients, mainly due to genetic factors. Introduction to clinical practice of pharmacogenetic testing in a certain region should be preceded by population-genetic studies. The aim of the study: To determine the prevalence of the most common allelic variants of GSTM1, GSTT1, GSTP1, CAT, GPX1, NQO1 in a representative sample of the three ethnic groups (Russians, Tatars, and Bashkirs) from the Republic of Bashkortostan (Russia), and to compare the results with existing data for other populations. Materials and methods: The genotypes were determined in 1294 DNA samples of healthy unrelated individuals, representatives of three ethnic groups (Russians (N=640), Tatars (N=462) and Bashkirs (N=192)). The gene polymorphisms were examined using PCR and PCR-RLFP methods. Results: The analysis of the GSTM1 (Del), GSTP1 (rs1695), and NQO1 (rs1800566) allele and genotype frequencies revealed significant differences among healthy residents of the Republic of Bashkortostan of different ethnicities. Distribution of allele and genotype frequencies of the GSTT1 (Del), CAT rs1001179) genes were similar in Russians, Tatars, and Bashkirs. The analysis of literature data showed similarity of ethnic groups with the population of Europe in alleles and genotypes of polymorphic markers of the GSTM1 (Del), GSTT1 (Del), NQO1 (rs1131341) genes. The distribution of alleles and genotypes of the GSTP1 (rs1695l) gene were similar of the studied ethnic groups with the population of Asia are shown. Conclusion: The frequency distribution of the alleles of polymorphic markers of the GSTM1 (del), GSTP1 (rs1695l) and NQO1 (rs1800566) genes has significant interethnic differences. The frequency distribution of the alleles of the polymorphic markers of the GSTT1, CAT, GPX1 genes in the populations of Russians, Tatars and Bashkirs is similar.

Background: The ideal dose of drugs varies widely among patients, mainly due to genetic factors. Introduction to clinical practice of pharmacogenetic testing in a certain region should be preceded by population-genetic studies. The aim of the study: To determine the prevalence of the most common allelic variants of GSTM1, GSTT1, GSTP1, CAT, GPX1, NQO1 in a representative sample of the three ethnic groups (Russians, Tatars, and Bashkirs) from the Republic of Bashkortostan (Russia), and to compare the results with existing data for other populations. Materials and methods: The genotypes were determined in 1294 DNA samples of healthy unrelated individuals, representatives of three ethnic groups (Russians (N=640), Tatars (N=462) and Bashkirs (N=192)). The gene polymorphisms were examined using PCR and PCR-RLFP methods. Results: The analysis of the GSTM1 (Del), GSTP1 (rs1695), and NQO1 (rs1800566) allele and genotype frequencies revealed significant differences among healthy residents of the Republic of Bashkortostan of different ethnicities. Distribution of allele and genotype frequencies of the GSTT1 (Del), CAT rs1001179) genes were similar in Russians, Tatars, and Bashkirs. The analysis of literature data showed similarity of ethnic groups with the population of Europe in alleles and genotypes of polymorphic markers of the GSTM1 (Del), GSTT1 (Del), NQO1 (rs1131341) genes. The distribution of alleles and genotypes of the GSTP1 (rs1695l) gene were similar of the studied ethnic groups with the population of Asia are shown. Conclusion: The frequency distribution of the alleles of polymorphic markers of the GSTM1 (del), GSTP1 (rs1695l) and NQO1 (rs1800566) genes has significant interethnic differences. The frequency distribution of the alleles of the polymorphic markers of the GSTT1, CAT, GPX1 genes in the populations of Russians, Tatars and Bashkirs is similar.

genes of antioxidant protectionpolymorphic markersethnic groupecological geneticsmetabolismgenes of antioxidant protectionpolymorphic markersethnic groupecological geneticsmetabolism

The study was partially supported by the Russian Foundation for Basic Research (projects No. 17-44-020735, No. 18-015-00050); biological material (DNA) for research is taken from the collection of human biological materials of the Federal State Budgetary Institution of Science, The Institute of Biochemistry and Genetics, Ufa Scientific Center, The Russian Academy of Sciences, supported by the program of bioresource collections of the Federal Agency of Scientific Organizations of Russia (agreement No. 007-030164/2); the work was done using the equipment of the Center for collective use «Biomika» and the unique scientific installation «KODINK» (Federal State Budgetary Institution of Science Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences).

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