Genetic features of sensitivity to vitamin D and prevalence of vitamin D deficiency among outpatients

Abstract

Genetic features of sensitivity to vitamin D and prevalence  of vitamin D deficiency among outpatients A.Yu. Poluektova1, E.Yu. Martynova2, I.R. Fatkhutdinov3, T.Yu. Demidova3, Yu.E. Poteshkin1,3 1 Pirogov Russian National Research Medical University, Moscow, Russian Federation 2 Sechenov University, Moscow, Russian Federation 3 Medical Center “Atlas”, Moscow, Russian Federation Aim: to study prevalence of vitamin D deficiency among patients seeking outpatient care, including pregnant women, and dependence of its concentration on genes GC (DBP), CYP2R1, DHCR7 polymorphisms. Patients and Methods: a retrospective analysis of medical records of 565 patients was performed, 449 of which were made a genetic test for the genes GC (DBP), CYP2R1, DHCR7 polymorphisms and analysis of three single nucleotide polymorphisms (rs2282679 for the GC gene; rs7944926 for the DHCR7 gene, and rs10741657 for the CYP2R1 gene). Results and Discussion: 62% of the patients had moderate and severe vitamin D deficiency. In pregnant women, 62.5% had moderate and severe vitamin D deficiency. Any 25 (OH) D concentration below the target levels was associated with an increase in low-density lipoproteins above the reference values. The concentration of vitamin D has an inverse relationship to body mass index, which is associated with deposition of vitamin D metabolite in subcutaneous fat. Mutations in genes polymorphisms associated with 25 (OH) D concentration were not so frequent (30 of 449 people); even if the mutation is present, this does not always entail moderate and severe vitamin D deficiency. Serum 25 (OH) D concentrations depend both on gene polymorphisms and on external factors, so they should be considered together. Persons with genetic risk factors (a predisposition to a significant decrease in the concentration of 25 (OH) D) need to take higher doses of vitamin D medications. Conclusion: the role of vitamin D in our body is extremely diverse: participation in phosphorus-calcium metabolism, prevention of type 2 diabetes, obesity, cardiovascular and neurodegenerative diseases, prevention of oncological and immuno-mediated diseases. The prevalence of moderate and severe vitamin D deficiency in pregnant women is consistent with the prevalence in population, but given the increased risk of preterm delivery, gestational diabetes, preeclampsia, and cesarean delivery, which are associated with vitamin D deficiency, this condition requires immediate correction during pregnancy. Key words: vitamin D, vitamin D deficiency, genetic test, gene polymorphism, GC (DBP), CYP2R1, DHCR7, 25 (OH) D, pregnancy, vitamin D sensitivity. For citation: Poluektova A.Yu., Martynova E.Yu., Fatkhutdinov I.R. et al. Genetic features of sensitivity to vitamin D and prevalence of vitamin D deficiency among outpatients. Russian journal of Woman and Child Health. 2018;1(1):11–17.