Genogeography of vitamin D receptor determinants (VDR gene) in Eurasian populations with different types of subsistence economy

Abstract

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

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