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.