Genetic aspects of vitamin D receptor and metabolism in relation to the risk of multiple sclerosis.
Recent findings suggest that polymorphisms in vitamin D pathway genes are candidates for association with multiple sclerosis susceptibility. It has been now well demonstrated that vitamin D has immunomodulatory functions that may be favorable for reduction of multiple sclerosis risk. Current research has been focused on identification of new variants of genes involved in vitamin D pathway, namely in vitamin D receptor and enzymes of vitamin D metabolism. These variants have been intensively studied as possible genetic predictors of both vitamin D levels and the risk of multiple sclerosis. Considering the findings available up-to-date, we may recognize two groups of genetic variants. The first group of genes was found to predict vitamin D levels but not the risk of multiple sclerosis. The second group of genetic variants is represented by promising genes predicting vitamin D levels as well as the risk of multiple sclerosis. A strong association with increased risk of the disease has been observed for a rare variant in the CYP27B1 gene encoding a vitamin D-activating enzyme. Observed interaction between genetic and epidemiological findings brings the rationale for supplementation trials of vitamin D. Although promising effects of vitamin D supplementation have emerged, the results obtained so far are inconclusive and the real therapeutic significance of vitamin D supplementation remains to be elucidated.
1st Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovak Republic. lucia.krizova@gmail.com.
Lucia
L
Krizova
Branislav
B
Kollar
Daniela
D
Jezova
Peter
P
Turcani
D019587:Dietary Supplements; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D009103:Multiple Sclerosis / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology / Q000378:metabolism*; D018167:Receptors, Calcitriol / Q000235:genetics* / Q000378:metabolism*; D014807:Vitamin D / Q000378:metabolism
D018167:Receptors, Calcitriol; D014807:Vitamin D