Kozlov Andrew Igorevich

Introduction. A dinucleotide deletion of AG at the rs781470490 locus of the SI gene (SI delAG variant) causes dysfunction of the sucrase-isomaltase enzyme and the inability to digest sugar. The deletion frequency in the world is 0.0021%, while among the Inuit (Eskimo) it reaches 17–20%. Research hypothesis: the SI delAG variant is common in all the populations of indigenous northerners.
The study aimed to ascertain the prevalence of the SI delAG variant in the Cis-Ural, Siberian, and Far East populations of the Russian Federation and compare it to that of the Inuit people.
Materials and methods. DNA genotyping and the SI delAG variant frequency analysis were carried out in the samples from study groups of Russians, Komi, Mansi, Khanty, Nenets, Shors, Evenks, Evens, Koryaks, Chukchi (n =613). Corresponding data for the Canadian and Greenlandic Inuit (n =391) were used for comparison.
Results and discussion. The deletion in samples from the Chukchi, Koryak, and Even study groups occurred in 14, 7, and 4%, respectively; there was no the deletion found in the samples of the other Siberian and Cis-Ural groups. The carriage of the SI delAG variant decreases with the distance from the area of the Greenlandic Inuit. The Inuit, Chukchi, and Koryak groups form a distinct cluster. The Paleo-Eskimo do not carry the deletion. Minimal amounts of sugar-containing products appeared in the diet of the Greenlandic and Canadian Inuit at the end of the 19th century, 200 years later than in the diet of aboriginal northerners of Eurasia.
Conclusions. There was no SI delAG variant found in the samples of the indigenous people of West Eurasia high latitude regions. The deletion emerged in Neo-Eskimo population 1.2–2 thousand years ago and has been retained in the small numbered isolate due to their way of existence and diet. In the populations of the northwest coast of the Sea of Okhotsk and the Chukchi Peninsula, the SI delAG variant was brought by the gene flow from the Inuit people. © 2023. This work is licensed under a CC BY 4.0 license.

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. There are a number of genes, individual alleles of which or their combinations make the carrier susceptible to the disease. In the case of type 2 diabetes, obesity, and metabolic syndrome, the hypothesis of a “thrifty genotype” was put forward as a combination of gene alleles that provided their carriers with advantages in the prehistoric and historical past, but provoked morbidity now. Such a genotype should have previously been under the positive selection, whereas in the modern world it may play a negative role. It is also obvious that the expression of the thrifty genotype as well as the genes that form it and their alleles, should depend on anthropological and ecological conditions: the ecology of the region where the human population lives and their traditional subsistence and farming systems.

The aim of the proposed review is to systematize modern views on the problem of thrifty genotype with special attention to the evolutionary anthropological, and ecological aspects of the problem.

Materials and methods. Herein we represent a review of current data regarding the thrifty genotype hypothesis. The paper reviews the main theses of the hypothesis, its basis, and the arguments of supporters and critics. The evolutionary, anthropological, and ecological aspects of the thrifty genotype hypothesis are discussed.

Results. A significant number of experimental studies and reviews give an idea of the distribution of thrifty genotypes in populations of different origins and anthropological affiliations. However, the coverage of material and inclusion of population data in the analysis is uneven. The genetic geography of thrifty genotypes remains poor and, commonly, insufficiently studied. The most complete and methodologically correct systematization of primary materials on the prevalence of thrifty genotypes, their connection with the ecological conditions of the natural environment, and anthropogenic factors, including traditional subsistence and farming systems and the nature of nutrition, remains still relevant.

Conclusion. We consider the integrated ecological approach to be the most promising direction of theoretical research on the problem of “thrifty genotype”. The approach from the standpoint of the concept of “niche construction” removes the seeming contradictions between the main hypotheses considered in our review – the thrifty genotype, the drifty genotype and the thrifty phenotype. © 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. According to the concept of adaptive types proposed about 50 years ago [Alekseeva, 1972, 1977], representatives of different groups and races in similar living conditions independently (convergently) develop close adaptive norms of morpho-physiological complexes that ensure stability in given ecological environment. Today, this concept is widely used in anthropology and human ecology although its important applied and predictive aspects are often underestimated.

This review examines the history of the formation and development of the concept of adaptive types in the context of other views on human ecology, its connection with modern scientific views, and the prospects for implementation in fundamental and applied research.

Results. Over the past 50 years, the concept of adaptive types has been enriched and strengthened through interactions with related scientific fields. The use of ethnographic data on the way of life, physical loads, food availability and composition in groups with different variants of traditional natural resource use demonstrated the importance of an integrated assessment of the impact of natural and anthropogenic factors. The application of ideas and methods from population and molecular genetics, bioinformatics, and statistical analysis allowed the supplementation of phenotypic morpho-functional indices with data on the specificity of the distribution of genetic determinants of metabolism in groups adapted to different environmental conditions. This allows us to consider the formation of adaptive types as a microevolutionary process in which the habitat and the population adapting to it at the biological and cultural-technological level mutually influence each other. This approach, based on the position of the modern theory of niche construction, in particular, allows us to identify an adaptive type of urbanized environment characterized by ranges of adaptive norm of morpho-physiological, auxological, biochemical, and endocrine complexes specific to megapolis populations. Comparison of data obtained from studies of groups with different levels of modernization showed that the damaging effect of the anthropogenic environment decreases as the population enters the range of a new adaptive norm that meets the requirements of an emerging urban niche.

Conclusion. The concept of adaptive types, in its modern interpretation, is productive when considering a number of fundamental and applied issues in the field of human ecology, theoretical, and evolutionary medicine, including the problem of the spread of metabolic disorders. © 2024. This work is licensed under a CC BY 4.0 license

Introduction. Anatomical anthropology is a field of study that emerged in the last third of the 19th century to study the variability of human organ structure, considering body type and racial, ethnic, and social affiliation.

The purpose of this study was to review the history of the development of anatomical anthropology with a focus on the stages that led to the formation of the concept of typical and variant anatomy.

Materials and methods. This paper presents an essay on the development of anatomical anthropology. Publications from 1857 to 2024 were reviewed. To assess the place occupied by studies of bone structures, internal organs, and physique in modern Russian journals of anatomical profile, an analysis of 654 articles for 2019-24 was conducted.

Results and discussion. In the early stages of the formation of anthropology as a natural science direction (1860-70s), its connections with normal anatomy were strong. At that time, when studying the variability of the structure of organs and systems in different groups of people, the terms "anatomical anthropology" and "soft tissue anthropology" were adopted. 

As sciences evolved in the late 19th and early 20th centuries, the variability of the structure of soft tissues became primarily a subject of study for medical anatomists, and anthropology departments were organizationally removed from the medical faculties of universities. Anatomical anthropology has found its place in medical morphology research. The works of V.N. Shevkunenko made it possible to move from the previous unsystematic accumulation of data on the variability of morphological structures to their systematization and analysis based on a single concept of typical and variant anatomy. This direction has been preserved and developed in medical universities in Russia.

Conclusion. Strengthening interdisciplinary interactions is a characteristic of current biological anthropology research. Anthropologists should pay attention to not only the latest high-tech methods but also the theoretical principles and methods of typical and variant anatomy, which allow them to obtain valuable results in classical morphological research. © 2025. 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