Vitamin D receptor polymorphism association with the risk of multiple sclerosis

What is it about?

It is still unclear as to why multiple sclerosis (MS) is so devastating and rapidly progressive in one patient and less so in another. Level of vitamin D can modulate the risk as well as the clinical course of disease. Vitamin D acts through the vitamin D receptor (VDR), and its function depends on the single nucleotide polymorphisms (SNPs) in the VDR gene. This polymorphism varies within the different populations including Central European Slovaks and we present here that particular FokI gene polymorphism correlate with the risk of MS. We observed a significantly higher frequency of Ff genotype of FokI SNP in women with MS, however we did not prove genotype associstion with the disease progession. Our work indicate for further studies to explore the role of VDR polymorphic alterations in MS disease etiology and pathogenesis.

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Why is it important?

Level of vitamine D varies in geographical and race manner. Link between its level and risk for multiple sclerosis has been indicated in many studies. Role of vitamine D depends on the functioning of its receptor. Receptor function relies on its gene which is a subject of its gene polymorphic changes. We proved that in Slovak women the risk of multiple sclerosis correlate with the Fok1 gene polymorphism encoding the vitamine D receptor

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