Abstract
The distribution of the allele and genotype frequency for the TOMM40 gene polymorphic variants rs741780, rs157580, rs1160985, rs2075650, and rs8106922 was analyzed in a sampling of ethnic Russians from the city of Kemerovo. The study of the structure of linkage disequilibrium in terms of five studied polymorphic variants showed the presence of a haplotype block 2 Kb in length, which includes three polymorphic variants, i.e., rs741780, rs1160985, and rs8106922. The differences in the frequencies of alleles and genotypes in terms of the polymorphic rs2075650 and rs157580 variants between ethnic Russians from the city of Kemerovo and other European populations were detected. It was discovered that polymorphic variants of TOMM40 rs741780, rs1160985, and rs8106922 are associated with serum triglyceride concentrations. In men, the polymorphic variant rs2075650 is associated with low-density lipoprotein cholesterol levels. In women, the polymorphic variant rs741780 is associated with diastolic blood pressure levels.
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Original Russian Text © R.R. Salakhov, I.A. Goncharova, O.A. Makeeva, M.V. Golubenko, E.V. Kulish, V.V. Kashtalap, O.L. Barbarash, V.P. Puzyrev, 2014, published in Genetika, 2014, Vol. 50, No. 2, pp. 222–229.
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Salakhov, R.R., Goncharova, I.A., Makeeva, O.A. et al. TOMM40 gene polymorphisms association with lipid profile. Russ J Genet 50, 198–204 (2014). https://doi.org/10.1134/S1022795413120090
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DOI: https://doi.org/10.1134/S1022795413120090