Aim. The aim of the study was a replicative analysis of the association of polymorphic variants of genes associated with obesity revealed by results of wide-genomic studies (GWAS) with the development of a cluster of metabolic syndrome risk parameters in women of Bashkir and Tatar ethnicity. The polymorphic markers of the following genes were analyzed: SEC16B, FADS1, KCTD15, MAF, MAP2K5, NEGR1, BDNF, TMEM18. Materials and methods. The study involved 243 women with metabolic syndrome and 298 women without the metabolic syndrome. Amplification of DNA fragments was performed using real-time PCR and TaqMan technique. Results. We found the association the metabolic syndrome with genetic markers of genes MAF and TMEM18 from Tatar. Protective informative marker of the metabolic syndrome among Tatar and Bashkir was the TT haplotype TMEM18 gene (rs2860323 and rs6548238) (р=0.005 and р=0.001, respectively). We identified the association marker rs2241423 MAP2K5 gene with the level of waist circumference (p=0.003) and with the level of cholesterol (p=0.014), the marker rs11084753 KCTD15 gene with glucose levels after exercise (p=0.002), the level of triglycerides (p=0.003) and HDL (p=0.0008) among Tatar women. We identified the association rs2241423 MAP2K5 gene marker to glycated hemoglobin level (p=0.002) and a marker gene rs174550 FADS1 with triglyceride levels (p=0.02) among Bashkir women. Conclusion. It can be assumed that the polymorphic variants FADS1, KCTD15, MAF, MAP2K5, TMEM18 genes are an important part of the genetic structure of predisposition to metabolic syndrome and/or to a cluster of clinical and biochemical indicators of the risk of metabolic syndrome.

Aim. To perform the analysis of the association of transcription factor 7-like 2 (TCF7L2) gene rs7903146 polymorphism with type 2 diabetes mellitus (T2DM) among Tatars of Bashkortostan. Materials and methods. In this study, 169 patients with T2DM and 286 controls without clinical symptoms and laboratory signs of diabetes and without diabetes relatives were examined. Amplification of the DNA fragments was performed using real-time polymerase chain reaction (PCR) and TaqMan technique. Results. Genotype CT and allele T ratios were higher in the T2DM group than in controls (46. 7% vs. 36. 4%, p = 0. 030; 41. 7% vs. 30. 8%, p = 0. 001 respectively). There was a positive association between allele T and T2DM (OR = 1. 61), and allele C had a protective effect (OR = 0. 62, p = 0,001). Carriers of the ТТ genotype had later onset of T2DM (mean = 59. 5 years old) compared with carriers of the CT and CC genotypes (56. 1 years old, p = 0. 044). Basal C-peptide concentration, lipid levels and body mass index were not associated with TCF7L2 rs7903146 polymorphism. Conclusion. TCF7L2 rs7903146 polymorphism is associated with T2DM among Tatars of Bashkortostan.