Study of a Polymorphic Variant of the TRPM8 Cold Receptor Gene (rs7593557) in 15 Populations of the Altai-Sayan Region and the Far East

Abstract—

The TRPM8 thermoreceptor gene (rs7593557) was analyzed in 15 population samples living in different regions of Northern Asia, the Altai-Sayan Highlands, and Canada. High frequencies of a rare genotype and allele in the populations of the Altai-Sayan region and Western Siberia were found among the Telengits (22.2 and 41.7% respectively) and were low among the Siberian Tatars (3.2 and 18.5% respectively), while among the peoples of northern Siberia and the Far East high frequency was found among the Nanais (22.2 and 42.6% respectively) and a low frequency among the Yakuts (1.1 and 10.9% respectively). No deviations from the Hardy–Weinberg equilibrium were found. Trans-association of TRPV1, TRPA1, and TRPM8 gene polymorphisms was carried out using the regression analysis method in 14 populations. Of all three pairs, only one, TRPV1/TRPM8, showed a positive correlation (0.55, df = 13, P-value, 0.032). In TRPV1/TRPA and TRPA1/TRPM8 pairs a negative correlation was revealed (–0.545, df = 13, P-value, 0.048) and (–0.46, df = 13, P-value, 0.097) respectively. Our data indicate that the studied polymorphisms of the TRPV1 and TRPM8 genes are correlated with each other and negatively correlated with TRPA. The results obtained may indicate the coevolution of these genes. It was previously shown that TRPV1, as well as TRPM8, was detected with high frequency in the Nanai population. It is likely that these two mutations came simultaneously from East Asia and spread throughout Russia, which explains the fact that they are positively correlated with each other.