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Autoimmun Rev. 2009 Jun;8(7):621-6. doi: 10.1016/j.autrev.2009.02.009. Epub 2009 Feb 11.

The relevance of vitamin D receptor gene polymorphisms for vitamin D research in multiple sclerosis.

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School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, the Netherlands.


A poor vitamin D status has been associated with several autoimmune diseases, including multiple sclerosis (MS). The receptor for the biologically active metabolite of vitamin D appears to be a key player in these associations, not only as a mediator of the biological effects of vitamin D, but also as a mediator of the regulation of vitamin D metabolism itself. In this concise review, we will discuss the mostly investigated genetic polymorphisms of the vitamin D receptor (VDR), and their consequences for VDR functionality and immune regulation. Next, we will discuss the association of these polymorphisms with MS, and their relation with vitamin D metabolism. We conclude that polymorphisms of the VDR have major effects on vitamin D function and metabolism, and should therefore be assessed in studies on vitamin D and MS.

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