Polymorphism of the Vitamin D Receptor Gene in Aboriginal Populations of siberia
Based on our own and published data on whole-exome polymorphism in aboriginal populations of Siberia, we studied the variability of the vitamin D receptor gene (gene VDR), which plays an important role in the processes of calcium and phosphorus metabolism, calcium transport to bone tissue, immunomodulation, and regulation of cell energy metabolism. In exons, polymorphism was found in two positions: synonymous replacement in exon 9 (rs731236-G) and non-synonymous replacement in exon 2 (rs2228570-G), the latter being of functional significance. The highest frequencies of the rs2228570-G variant (81%) were recorded in the Central Siberian sample (Evens, Evenks, Yakuts); the lowest (57%), in the sample from Northeast Siberia (Eskimos, Chukchis and Koryaks) and intermediate (61% and 63%, respectively) in the South Siberian (Tuvinians, Shors, Altaians, Buryats) and West Siberian (Kets, Khanty, Mansi, Selkups, Nenets, Nganasans) samples. The maximum frequency of the homozygous rs2228570-GG genotype (69%) was detected in the Central Siberian sample. The frequency of VDR gene polymorphism variants in aboriginal populations of Siberia is discussed in connection with adaptation to various environmental conditions.