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Вариабельность генов разобщающих белков UCP1 и UCP3 в связи с климатом в популяциях коренного населения Сибири и Дальнего Востока
Introduction. Several studies have demonstrated a correlation between variations in genes regu lating human uncoupling proteins (UCP) and environmental factors. However, information on the intra- and interpopulation diversity of allele and genotype frequencies of UCP1 and UCP3 within the territory of Russia remains insufficient. This study aims to investigate the intra- and inter-ethnic variability of genetic determinants of activity of uncoupling proteins UCP1 and UCP3, and to evaluate genotype-environment associations in the populations residing in the northeastern region of Russia. Materials and methods. Genotyping was conducted on a total of 1,698 biological specimens col lected from individuals representing 22 population groups of European Russia, Siberia, and the Russian Far East. Geographical and climatic data spanning from 1940 to 2023 were gathered for each sample collection locality. Results and discussion. The spatial distribution of genetic determinants affecting the activity of UCP1 and UCP3 uncoupling proteins demonstrates a correlation with the severity of natural conditions. Three regression models of allele frequencies were constructed using climatic characteristics as predic tors. All models are statistically significant (p<0.05 in all cases) and explain 39%, 36%, and 64% of the variability in UCP1 (rs6536991, rs1800592) and UCP3 (rs1800849) allele frequencies, respectively. These correlations revealed by the models confirm the adaptability of UCP genes in the indigenous pop ulation groups of Northern Eurasia.
Conclusion. The results of this study are consistent with the assumptions reported in scientific litera ture and significantly enhance existing knowledge. We observed correlations between allele and genotype frequencies of UCP1 (rs6536991, rs1800592) and UCP3 (rs1800849) genes and geographic latitude, eleva tion above sea level, as well as climatic indicators such as annual average rainfall, range of surface air tem peratures, and the Bodman “weather severity” index. Further investigation involving a larger number of ethnic and territorial groups is necessary to better understand the factors influencing UCP gene variability formation.