Polymorphism of the rs1815739 Locus of the <i>ACTN3</i> Gene and rs11227639 <i>cis</i>-eQTL Affecting Its Expression in Populations of Siberia

Abstract

The polymorphism of the rs1815739 locus of the ACTN3 gene and the rs11227639 cis-eQTL that affects expression of this gene was studied in the populations of the northern (Chukchi, Koryaks, Evens, and Evenks) and southern (Buryats, Altaians, and Tuvinians) parts of Siberia. It was shown that the frequencies of the rs1815739-C allele of the ACTN3 gene (corresponding to the 577R amino acid variant) and the rs11227639-A upregulating ACTN3 allele, which increases the expression level of this gene, are significantly higher in the north than in the south of Siberia. Similarly, in the northern direction, the frequency of the combination of CC/AA genotypes at these loci increases. The revealed pattern of the geographical distribution of alleles and genotypes at the rs1815739 and rs11227639 loci in Siberian populations may be due to adaptation to cold and the processes of thermoregulation of the body when exposed to cold. It is assumed that an increase in the frequency of rs1815739-C and rs11227639-A alleles in the aboriginal populations of the north of Siberia is associated with an increase in the role of shivering thermogenesis during adaptation to cold exposure, and also contributes to an increase in muscle mass in their carriers, which reduces heat loss in the conditions of the North.