Genetic polymorphism of F2, F5 and VKORC1 in populations of buryats, teleuts and russians of the Eastern Siberia


L.E. Tabikhanova(1), L.P. Osipova(1, 3), T.V. Churkina(1), E.N. Voronina(2, 3), M.L. Filipenko(2, 3)
1-The Federal Research Center Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences,
Prospekt Lavrentyeva, 10, Novosibirsk, Russian Federation, 630090;
2-Institute of Chemical Biology and Fundamental Medicine, the Siberian Branch of the Russian Academy of Sciences,
Prospekt Lavrentyeva, 8, Novosibirsk, Russian Federation, 630090;
3-Novosibirsk State University, Pirogova str., 2, Novosibirsk, Russian Federation, 630090

Introduction. The study of the prevalence of genetic risk factors for thrombosis-associated diseases in the indigenous population of Siberia is an important issue in current medicine. The aim of the study. The aim of this work is to study the allele frequencies of the clotting factor genes F2 (G20210A, rs1799963) and F5 (G1691A Leiden, rs6025) and the VKORC1 gene (C1173T, rs9934438) in the Teleut population, the Buryat population and their Métises in comparison with the Eastern Russian populations. Methods. The Real-time polymerase chain reaction with competitive TaqMan allele-specific probes. Results. The mutation F5 (1691A, Leiden) was not detected in cohorts of Buryat, Teleut and Buryat Métis, its prevalence accounted for 1,3% among Russians. The mutation F2 (20210A) was not found in Teleuts and Buryat Métis, it was detected with a low frequency of 0.1% in the total cohort of the Buryat. The frequency of this mutation in the Russians of East Siberia is 1.3%. The occurrence of the VKORC1 (1173T) allele in two of the Buryat populations (88,9% and 87,1%) and Teleuts (74,6%) is significantly higher than in the Russians of East Siberia (43,6%). The frequency of variant 1173T of the gene VKORC1 in the progeny of mixed marriages of Buryats with Russians is 68,2%.Conclusion. The obtained data makes it possible to predict a reduced risk of thrombosis-associated diseases among Teleuts and Buryats. However, one should consider the risk of overdose of indirect anticoagulants in the treatment of members of these ethnic groups
F2 (G20210A, rs1799963), F5 (G1691A, rs6025, Leiden), VKORC1 (С1173T, rs9934438), Buryats, Teleuts, Russians of Eastern Siberia