Abstract
Vitamin D is involved in a variety of biological processes, including bone metabolism, immune response regulation, it impacts cell proliferation and differentiation. Vitamin D deficiency is associated with such non-skeletal diseases as diabetes mellitus type 1 and type 2, cancer, cardiovascular diseases, which confirms the pleiotropic nature of the biological function of vitamin D. Genetic studies provide great opportunities to study the genetic and molecular which define circulating levels of vitamin D. Variable DNA regions that are common in the populations are called single-nucleotide polymorphisms (SNPs) and can have an effect on the metabolism of vitamin D, as well as modulate the action of vitamin D in the development of type 1 diabetes mellitus in humans. The article provides the literature overview on the molecular mechanisms of action of vitamin D, as well as the genes encoding enzymes responsible for the metabolism of vitamin D. Also it reviews the most extensive genetic studies in human, the purpose of which was to study the inheritance of circulating levels of
vitamin D, the influence of these genetic determinants on the development of type 1 diabetes mellitus.
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