Elena V. Balanovskaya

Introduction. Trehalose or mushroom sugar has been increasingly used in the food industry in the past decades. To be absorbed in the human intestine, trehalose needs to be broken down by an enzyme known as trehalase. Today, it is known that the G→A substitution in the rs2276064 locus of the TREH gene results in the reduced activity of this enzyme.

The aim of this study was to analyze the frequency of TREH (rs2276064) alleles and genotypes in the populations of South Siberia, Kazakhstan, Central Asia and Mongolia that differ in the contribution of the ancestral East Eurasian (Mongoloid) component to their gene pools.

Methods. We genotyped 987 DNA samples collected from the representatives of 17 indigenous populations from Siberia, Kazakhstan and Mongolia. The samples of 311 ethnic Russians comprised a reference dataset. In addition to estimating the frequencies of TREH alleles and genotypes, we analyzed the contribution of the ancestral East Eurasian (Mongoloid) and West Eurasian (European) ADMIXTURE components for the studied populations using an Illumina 750k microarray of SNP markers.

Results. The frequency of the A*TREH allele associated with trehalase deficiency increases from west to east (r_sp =0.500, p <0.05). TREH is correlated more strongly with the contribution of the ancestral East Eurasian (Mongolian) component than with the geography of the studied populations: r_sp =0.613 (p =0.007); with AA*TREH frequency r_sp =0.688 (p =0.002).

Conclusions. The rs2276064-А TREH allele is more frequent than previously estimated from clinical data. The more substantial is the contribution of the ancestral East Eurasian (Mongoloid) component, the higher is the frequency of the risk A*TREH allele, which rises dramatically to 29-30% in the Kyrgyz, Khakass, Tuvinian and 39% in Khalkha Mongol populations. Together, carriers of the AG and AA*TREH genotypes make up 35% to 65% of the populations of Oriental origin. We hypothesize that the high frequency of genetic trehalase deficiency determinants in the populations of Siberia, Kazakhstan, Central Asia, and Mongolia is associated with their anthropological characteristics and is not purely dependent on geographic factors.

© 2023. This work is licensed under a CC BY 4.0 license

Introduction. The authors consider the features of genetic determinants of disaccharide assimilation as the corollary of adaptation to the environment. The aim of the study was to assess the polymorphism of the genes that determine activity of disaccharidase enzymes lactase (LCT, rs4988235), trehalase (TREH, rs2276064) and sucrase-isomaltase (SI, rs781470490) in different territorial groups of Evenks.

Materials and methods. Biomaterial samples from 1365 unrelated individuals representing 15 ethno-territorial population groups in European Russia, Siberia, and the Far East of the Russian Federation were genotyped. "Focus" groups include "Western" (N=65), "Transbaikal" (N=50), and "Okhotsk" (N=81) Evenks (Krasnoyarsk Krai, Northern Transbaikalia, Okhotsk-Aldan region). The other study groups allow us to assess the specificity of the distribution of genetic determinants of disaccharide assimilation in populations that differ from racial, ecological, and subsistence perspectives.

Results. The Evenki territory subgroups do not differ from each other in terms of allele frequencies and genotype distribution of LCT (p>0.2) and TREH (p>0.8) and are similar to Yakuts, Buryats, Mongols, and populations of the Far East and Chukotka. The SI delAG deletion was not found in the Western Evenki subgroup.

Discussion. A question of similarity between taiga hunters Evenks to cattle breeders Buryats, Mongols, and Yakuts in terms of C*LCT frequencies requires further elaboration. Possible explanations may include a weakening of selection for the T*LCT allele due to the shift in traditional diet toward replacement of fresh milk with fermented dairy products, high activity of specific intestinal microflora, or the existence of other lactase synthesis genetic determinants, besides LCT*C/T-13910. The evolutionary origins of the clinal variation in the TREH gene allele frequencies, which appears to be associated with the expression of the Mongoloid ancestral component in the gene pool of populations in Northern Eurasia, remain unclear. It seems appropriate to conduct genetic screening in the indigenous populations of the Russian Far East in order to assess the prevalence of SI delAG deletion as an inducer of the sucrase-isomaltase deficiency. © 2024. This work is licensed under a CC BY 4.0 license

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 Y-gene pool of the southern Tuvan tribal groups – Soyan and Choodu – was first studied and their comparative analysis with representatives of Kyrgys (south-east of Tuva) and Oorzhak (west of Tuva) tribal groups was carried out. Purpose of the study: to determine the genetic status of the Soyan and Choodu tribal groups within the genetic landscape of the population of Southern Siberia.

Materials and methods. The sample (total N=150) included samples from representatives of Oorzhak (N=42), Soyan (N=29), Kyrgys (N=46) and Choodu (N=33) tribal groups. The genotyping panel included 60 SNP-markers of Y-chromosome, characteristic of the populations of Northern Eurasia.

Results. In the gene pools of studied tribal groups, 27 branches of 7 large haplogroups (C2, J2, N1, O, R1a, R1b) of Y-chromosome were identified. The main part of Choodu, Oorzhak, Soyan gene pools is represented by “North Eurasian” haplogroups (N1, Q) and Kyrgys gene pool is dominated by “East Eurasian” haplogroups C2 and O. The “West-Eurasian” haplogroups, mainly represented by subhaplogroup R1a1a-Z93, account for less than a quarter of the gene pool of all four studied groups, without revealing a clear geographical trend. In the genetic space of the population of Southern Siberia the Soyan, Choodu and Kyrgys, together with other of Tuvan tribal groups, formed the Tuvan-Tofalar claster. Tuvan-Tofalar, Altai and Khakass clusters indicate three sources of gene pool of the indigenous population of Southern Siberia. Maps of genetic distances showed greater similarity of the Soyan and Choodu with the rest of Tuvan tribal groups than with other populations of Southern Siberia. But the map of genetic distances from Kyrgyz reveals a different pattern: areal of genetically similar populations is more extensive, covering southern and southeastern Tuva, Mongolia and western Buryatia.

Conclusion. The prevalence of “North-Eurasian” haplogroups in the gene pools of the studied Tuvan tribal groups and data of historians, ethnographers, linguists and geneticists suggest that their gene pool was formed at the Samoyed-Ket layer (VI-III centuries BC), and the accumulation of Central Asian component in the gene pool of Kyrgys occurred at a later stage of Kyrgys gene pool formation, presumably from the XII-XVIII centuries. Analysis of the gene pool of Tuvans through their tribal groups structure makes a significant contribution to the reconstruction of the ethnogenesis of Tuvan tribal groups, along with the data of anthropologists, historians, ethnographers and linguists. © 2024. This work is licensed under a CC BY 4.0 license

Introduction. Russian population genetics arose in the depths of anthropology. Over time, the rapid development of genetic technologies created a tension between these two fields of science. In hope to strengthen the long-standing alliance between anthropology and genetics, this work attempts to describe some aspects of genetic characteristics that genetics deals with, discuss the problem of sample representativeness for so diverse genetic features, and explain how methods harnessed by both sciences are used in genetics. The main focus of the article is on ADMIXTURE, a method of ancestry estimation which makes use of paleogenetic data and is well known to paleoanthropologists.

Results and discussion. Our study shows how this method can benefit the ethnic anthropology of modern populations. We provide examples of PCA and ancestral component analysis for different regions (the Russian North, the Far East, Northern Eurasia) and for different tasks. ADMIXTURE can quantitatively estimate the contributions of racial and anthropologic components on different hierarchical levels; its estimates are based on huge arrays of independent genetic markers.

Conclusion. Only a small part of the extensive research field that both anthropology and genetics deal with is discussed in this paper. But if our attempt boosts collaboration between geneticists and anthropologists, the mission of this paper can be considered accomplished. © 2024. This work is licensed under a CC BY 4.0 license