Search of associations of mitochondrial genome polymorphisms with type 2 diabetes mellitus in the Sakha (Yakut) population.
Tikhonov D.G., Zakharova R.N., Sivtseva T.M., Golubenko M.V., Semenov S.I., Sydykova L.A., Afanasiev M.M., Fedorova S.A., Osakovsky V.L.
Opera Medica et Physiologica. 2023. 10(3), 23-31.
DOI: 10.24412/2500-2295-2023-3-23-3
The Republic of Sakha (Yakutia), located in the northeastern part of Russia, is characterized by an extremely cold climate, to which the indigenous people is adapted. Over the past decades, there has been a significant increase of the incidence of type 2 diabetes mellitus (T2DM) among the indigenous population. It is known that polymorphisms of the mitochondrial genome, in particular, the 16189C variant of hypervariable segment I (HVS-I), may contribute to the development of T2DM. The aim of the study was to assess the association of mitochondrial DNA (mtDNA) HVS-I polymorphisms with the type 2 diabetes mellitus in the Sakha (Yakut) population. Sequencing of HVS-I mtDNA in 102 patients with T2DM and 101 non-diabetic controls revealed 67 haplotypes and 64 SNP variants. There was no statistically significant difference in the frequencies of detected HVS-I polymorphisms and haplotypes between the two groups, which indicates the absence of a close association between HVS-I polymorphisms and T2DM in the Sakha population.