The relevance of vitamin D receptor gene polymorphisms for vitamin D research in multiple sclerosis.
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.
Smolders
Joost
J
School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, the Netherlands. j.smolders@mumc.nl
Peelen
Evelyn
E
Thewissen
Mariëlle
M
Menheere
Paul
P
Tervaert
Jan Willem Cohen
JW
Hupperts
Raymond
R
Damoiseaux
Jan
J
D006801:Humans; D007111:Immunity, Cellular; D009103:Multiple Sclerosis / Q000276:immunology* / Q000378:metabolism; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D014807:Vitamin D / Q000378:metabolism*
D018167:Receptors, Calcitriol; D014807:Vitamin D