Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, 677010 Yakutsk, Sakha Republic (Yakutia), Russia.
Laboratory of Molecular Biology, M.K. Ammosov North-Eastern Federal University, 677000 Yakutsk, Sakha Republic (Yakutia), Russia.
Int J Mol Sci. 2021 Apr 28;22(9):4657. doi: 10.3390/ijms22094657.
Leptin plays an important role in thermoregulation and is possibly associated with the microevolutionary processes of human adaptation to a cold climate. In this study, based on the Yakut population ( = 281 individuals) living in the coldest region of Siberia (t°minimum -71.2 °C), we analyze the serum leptin levels and data of 14 single nucleotide polymorphisms (SNPs) of 10 genes (, , , , , , , , , ) that are possibly involved in nonshivering thermogenesis processes. Our results demonstrate that from 14 studied SNPs of 10 genes, 2 SNPs (the TT rs3811787 genotype of the gene and the GG rs6265 genotype of the gene) were associated with the elevated leptin levels in Yakut females ( < 0.05). Furthermore, of these two SNPs, the rs3811787 of the gene demonstrated more indications of natural selection for cold climate adaptation. The prevalence gradient of the T-allele (rs3811787) of increased from the south to the north across Eurasia, along the shore of the Arctic Ocean. Thereby, our study suggests the potential involvement of the gene in the leptin-mediated thermoregulation mechanism, while the distribution of its allelic variants is probably related to human adaptation to a cold climate.
瘦素在体温调节中发挥重要作用，可能与人类适应寒冷气候的微进化过程有关。在这项研究中，基于生活在西伯利亚最寒冷地区（最低温度为-71.2°C）的雅库特人群（=281 人），我们分析了血清瘦素水平和 10 个基因（ 、 、 、 、 、 、 、 、 ）的 14 个单核苷酸多态性（SNP）的数据，这些基因可能参与非颤抖性产热过程。我们的研究结果表明，在研究的 10 个基因的 14 个 SNP 中，2 个 SNP（基因的 TT rs3811787 基因型和基因的 GG rs6265 基因型）与雅库特女性的瘦素水平升高有关（<0.05）。此外，在这两个 SNP 中，基因的 rs3811787 显示出更多适应寒冷气候的自然选择迹象。T 等位基因（rs3811787）的 T 等位基因（rs3811787）在欧亚大陆从南到北，沿着北冰洋海岸的流行梯度增加。因此，我们的研究表明该基因可能参与瘦素介导的体温调节机制，而其等位基因变异的分布可能与人类对寒冷气候的适应有关。
