Moscow University

Anthropological and ecological specificity of polymorphism in genes related to bone tissue metabolism (as exemplified by the Shors people)

Kozlov A.I. (1, 2), Ostroukhova I.O. (3), Lavryashina M.B. (4), Verdubskaya G.G. (1, 2), Ulyanova M.V. (3)

1) Lomonosov Moscow State University, Anuchin Research Institute and Museum of Anthropology, Mokhovaya st., 11, Moscow, 125009, Russia; 2) Institute of Developmental Physiology, Russian Academy of Education, Pogodinskaya st., 8-2, Moscow, 119121, Russia; 3) Kemerovo State University, Krasnaya st., 6, Kemerovo, 650000, Russia; 4) Kemerovo State Medical University, Voroshilov st., 22A, Kemerovo, 650056, Russia

Kozlov Andrew I., PhD, D.Sc; ORCID ID: 0000-0002-6710-4862;; Ostrouhova Irina;; Lavryashina Mariya B., PhD, DSc, professor; ORCID ID: 0000-0003-1593-0676;; Vershubskaya Galina; ORCID ID: 0000-0003-2452-1532;; Uljanova Marina, PhD;


Introduction. We studied the association between the frequencies of genetic variants affecting bone metabolism and environmental and traditional dietetic features in a group of Mountain-Taiga Shors. Materials and methods. A total of 72 samples (37 males, 35 females) for molecular-genetic testing have been collected from Shors of Kemerovo Oblast. We performed genotyping for the VDR BsmI rs1544410, VDR Fok1 rs2228570, TREH rs2276064, and LCT rs4988235 genes. The data on the traditional foods and their main sources were obtained from the ethnographical literature. Results and discussion. At the latitude of Southern Siberia (52°N) the human body cannot synthesize the necessary quantity of cholecalciferol (D3) throughout the year. There were few food sources of ergocalciferol (D2) in the traditional diet of the Shors: freshwater fish, mare’s and sheep’s milk provided inconsiderable intake. Mushrooms, a potential source of vitamin D2, were not an essential element of the traditional diet. That is consistent with the fact that the frequencies of genotypes AA*TREH (6.9%) and AG*TREH (27.8%), associated with the minimal and reduced activity of the enzyme trehalase, necessary for the assimilation of mushroom disaccharide trehalose, are relatively high among the Shors. Thus, the people had apparently experienced chronical vitamin D insufficiency. The milk of domestic animals, as a source of calcium, took a small place in the traditional diet: until the 1930s Shors had not kept cows. We found that the CC*LCT genotype that determines the limited lactase activity and milk intolerance in adults accounts for 73.6% in the study group. It is considered as high: in various groups of Russians, the percentage fluctuates in the range of 40-50%. The low availability of milk and the lack of other calcium-containing products constituted the risk factor for insufficient bone mineralization, which agrees with anthropological materials. An evolutionary response to the pressure of the negative factors was an increase in the proportion of the VDR CC*Fok1 (44.4%), CT*Fok1 (15.3%), GA*BsmI (48.6%) genotypes that associate with higher calcium absorption in the bone. Conclusion. It may be concluded that the Shors adapted to the conditions of low vitamin D and calcium-containing products availability by developing the higher sensibility of tissue receptors to vitamin D.


anthropology; genetics; diet; bone mineralization; vitamin D receptor; ergocalciferol, D2; cholecalciferol, D3; lactase; trehalase

DOI: 10.32521/2074-8132.2019.2.107-115

Цит.: Kozlov A.I., Ostroukhova I.O., Lavryashina M.B., Verdubskaya G.G., Ulyanova M.V. Anthropological and ecological specificity of polymorphism in genes related to bone tissue metabolism (as exemplified by the Shors people) // Moscow University Anthropology Bulletin (Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia), 2019; 2/2019; с. 107-115

Download text
Свидетельство о регистрации ПИ № ФС77-35672 от 19 марта 2009 г.
Website developer