Distribution of VDR Gene Polymorphisms in Northern Eurasia Populations

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Published Oct 29, 2024
DOI: https://doi.org/10.18103/mra.v12i10.5897

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Main Article Content

Andrey I. Kozlov, MD, Dr.Sci.
Anuchin Research Institute and Museum of Anthropology, Moscow State University, Moscow, Russia; National Research University Higher School of Economics, Moscow, Russia; Research Center for Medical Genetics, Human Population Genetics Laboratory, Moscow, Russia.
Galina G. Vershubskaya, Researcher
Anuchin Research Institute and Museum of Anthropology, Moscow State University, Moscow, Russia
Elena G. Nagornaya, Senior Lecturer
National Research University Higher School of Economics, Moscow, Russia;
Maria M. Voronina, Resident
Research Center for Medical Genetics, Human Population Genetics Laboratory, Moscow, Russia.
Vladimir Yu. Pylev, General Manager
Biobank of North Eurasia, Moscow, Russia.
Elena V. Balanovska, Dr.Sci, Professor
Research Center for Medical Genetics, Human Population Genetics Laboratory, Moscow, Russia

Abstract

Maintaining bone health involves a complex balance of factors, including the intake and absorption of minerals such as calcium and phosphorus. These processes are influenced by the presence of vitamin D and its receptor (VDR). The VDR gene is essential for regulating these processes, and variations in the gene can impact bone density and susceptibility to diseases.


This study aimed to analyze the frequencies of potentially “risky” alleles C*ApaI (rs7975232), G*BsmI (rs1544410), A*TaqI (rs731236) and G*FokI (rs2228570) in ethnic groups of Northeastern Europe, Central and Northern Asia, taking into account their origin and local environmental features (latitude and UV-B radiation). The analysis included 3,464 DNA samples from 96 geographic locations, representing 70 populations.


The study revealed distinct differences in the distribution of VDR polymorphisms between European and Asian populations. In European populations, the frequencies of the G*BsmI and C*ApaI alleles increased with higher latitudes and lower UV-B radiation levels during winter months (Rsp=0.356 and Rsp=0.327, respectively, p<0.05). Conversely, the frequency of the G*FokI allele decreased with higher latitudes and lower UV-B radiation levels (Rsp=-0.537, p<0.001). No significant correlations were observed in Asian populations.


These interpopulational differences in VDR polymorphism frequencies can be attributed to selection pressure to eliminate maladaptive variants. The study concludes that populations in Northeastern Europe, Central Asia, and Northern Asia exhibit significant variation in the frequencies of these potentially “risky” VDR gene alleles.


The results highlight the importance of environmental factor, such as UV-B radiation, in maintaining bone tissue health. Further research is necessary to elucidate the roles of diet and other factors in the metabolic chain ensuring bone health, particularly in understanding the observed ethnic and regional differences.

Keywords: vitamin D receptor, mineral metabolism in bone, genetic diversity, ultraviolet radiation, European populations, Asian populations

Article Details

How to Cite
KOZLOV, Andrey I. et al. Distribution of VDR Gene Polymorphisms in Northern Eurasia Populations. Medical Research Archives, [S.l.], v. 12, n. 10, oct. 2024. ISSN 2375-1924. Available at: <https://esmed.org/MRA/mra/article/view/5897>. Date accessed: 15 nov. 2024. doi: https://doi.org/10.18103/mra.v12i10.5897.
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Issue
Vol 12 No 10 (2024): October Issue, Issue 10, VOl.12
Section
Research Articles

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