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

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


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.

Publication types

  • Review

MeSH terms

  • Humans
  • Immunity, Cellular
  • Multiple Sclerosis / immunology*
  • Multiple Sclerosis / metabolism
  • Polymorphism, Genetic*
  • Receptors, Calcitriol / genetics*
  • Vitamin D / metabolism*


  • Receptors, Calcitriol
  • Vitamin D