[The study of the association between rs2228570 polymorphism of gene and vitamin D blood serum concentration in the inhabitants of the Russian Arctic].

Genetic factor plays a significant role in nutrient deficiency development, including vitamins, by present time the association between several genetic polymorphisms and vitamin deficiency in the different regions of the world has been established. The aim of this study was to evaluate the possible association between VDR FokI polymorphism and vitamin D sufficiency in the population of the Yamal-Nenets Autonomous District of the Russian Federation. The group of participants included 172 people, among them 133 women and 39 men aged 20 to 75 years old. Genomic DNA was extracted from blood and genotyped for the single nucleotide polymorphism (SNP) of FokI T/C: (rs2228570) using allele-specific amplification, results were detected in real time using TaqManprobes complementary DNA polymorphic sites. The concentration of 25-hydroxyvitamin D [25(OH)D] was measured by ELISA. The decreased level of 25(OH)D in blood serum (<20 ng/ml) occurred in 38.2% of the population surveyed, and 25(OH)D blood level in the alien population of the region was significantly lower than that in the indigenous population. Genetic peculiarities of the inhabitants of the Arctic zone were identified by comparison with the inhabitants of the European part of the Russian Federation. Allele C frequency of VDR rs2228570 polymorphism in the alien population was 71.1%, higher than in indigenous population (50.0%) while in the inhabitants of the European part of Russia it was 57.8%. Vitamin D blood level was statistically significantly lower in all homozygous C allele carriers than in genotype TT carriers, and vitamin D deficit frequency was 2.3 fold higher (48.4 vs. 21.1%, p<0.05). In the group of indigenous people of this region vitamin D levels in carriers of CC and CT genotype were also significantly lower than that of TT genotype carriers. The incidence of vitamin D deficiency in homozygous carriers of the allele C (45.5%) was 5.5 fold higher than among TT genotype carriers (p<0.01), and 1.6 fold higher than that in CT genotype carriers (p>0.05). Thus, the association between C allele presence of rs2228570 polymorphism of VDR gene and a deficiency of vitamin D (reduced levels of 25 (OH)D in blood serum) has been revealed.