Nagornaya Elena Grigor'evna

Introduction. Several studies have demonstrated a correlation between variations in genes regulating 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 collected 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 predictors. 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 population groups of Northern Eurasia.

Conclusion. The results of this study are consistent with the assumptions reported in scientific literature and significantly enhance existing knowledge. We observed correlations between allele and genotype frequencies of UCP1 (rs6536991, rs1800592) and UCP3 (rs1800849) genes and geographic latitude, elevation above sea level, as well as climatic indicators such as annual average rainfall, range of surface air temperatures, 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. © 2024. This work is licensed under a CC BY 4.0 license

Introduction. The body's ability to absorb vitamin D is determined, among other factors, by the activity of the vitamin D cellular receptor, which is encoded by the VDR gene. We considered intergroup differences in the carriage of VDR polymorphisms as the results of selection aimed at reducing the population frequencies of maladaptive variants. According to the literature, alleles A*TaqI (rs731236), G*BsmI (rs1544410), C*ApaI (rs7975232), and A*FokI (rs2228570) are identified as conditionally "risky" alleles associated with a decrease in bone mineral density and the development of osteoporosis. We hypothesized that the formation of the population specificity of VDR frequencies could be influenced by the traditional nutrition of the group, which was determined by belonging to the type of traditional economy (TTE).

Purpose of the study: to compare the frequencies of the A*TaqI, G*BsmI, C*ApaI, and A*FokI alleles of the VDR gene in indigenous groups with historically established economy systems oriented to the predominant use of products of agriculture, animal husbandry, or hunting in combination with fishing.

Materials and methods. Population VDR polymorphism was studied using 3463 DNA samples from 76 populations of indigenous Europeoid and Mongoloid populations of Eurasia. The populations were grouped into three categories based on their subsistence economy: "agriculturalists" (n = 49), "herders" (n = 13) and "hunters" (n = 14).

Results. The agricultural category contains both Mongoloid and Europeoid groups. The Mongoloid groups showed higher carriage of A*TaqI and G*BsmI alleles than the Europeoid groups (p=0.008; p < 0.0001). Since the herders and hunters categories consist only of Mongoloid populations, further comparisons of allele frequencies by TTE were made between the Mongoloid groups. The TTE affiliation factor was significant for the frequencies of G*BsmI and A*FokI polymorphisms (p=0.02). Carriage of G*BsmI was lower in herders than in hunters (p=0.02). The frequency of A*FokI in the herders and hunters groups did not differ, but in both groups it was significantly (p<0.05) lower than in the agriculturalists group.

Conclusion. The distribution of VDR polymorphisms was related to race. In Mongoloid populations, TTE affiliation is a significant factor that affects the distribution of VDR polymorphisms. The frequencies of VDR polymorphisms in the herders and hunter-fisherman groups of Europeoid origin are yet to be studied. There are no sufficient data on the frequency of VDR polymorphisms in the herders and hunter-fisherman groups of Europeoid origin. © 2025. This work is licensed under a CC BY 4.0 license