Genetic factors of vitamin D3 deficiency and their clinical significance
Omarova N.Kh., Soltakhanov E.M., Omarova P.A.Objective: to analyze the available literature data on genetic polymorphisms that affect the metabolism of vitamin D3 and its concentration in blood serum, with an emphasis on the latest experimental and clinical data. Material and methods. A search and analysis of scientific papers and review articles on the effect of genetic polymorphisms in genes (GC, CYP2R1, CYP27A1, DHCR7, VDR) on the metabolism of vitamin D3 and on the subsequent realization of its pleiotropic effects was carried out. Results. The role of hereditary factors in changes in serum indices of vitamin D3 is 23-80, along with indicators such as the UV index, skin insolation, nutritional route of administration, or with drugs. The review analyzed data on the genetic polymorphisms of the GC (DBP), CYP24A1, CYP2R1, CYP27B1, VDR, NADSYN1 / DHCR7 genes, which are involved in the metabolism of vitamin D3 and their association with blood vitamin D3, and analyzed the relationship between vitamin D3 and genetic polymorphisms. The very state of hypovitaminosis D3 increases the likelihood of developing diseases such as type 2 diabetes mellitus, cardiovascular disease, and hypertension. Conclusion. Knowledge of hereditary risk factors for low levels of vitamin D3 can be of great practical importance for the personalization of therapeutic and preventive measures.