title: The relevance of vitamin D receptor gene polymorphisms for vitamin D research in multiple sclerosis.
abstract: 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.
authors.affiliation: School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, the Netherlands. j.smolders@mumc.nl
authors.forename: Joost
authors.initials: J
authors.lastname: Smolders
authors.forename: Evelyn
authors.initials: E
authors.lastname: Peelen
authors.forename: Mariëlle
authors.initials: M
authors.lastname: Thewissen
authors.forename: Paul
authors.initials: P
authors.lastname: Menheere
authors.forename: Jan Willem Cohen
authors.initials: JW
authors.lastname: Tervaert
authors.forename: Raymond
authors.initials: R
authors.lastname: Hupperts
authors.forename: Jan
authors.initials: J
authors.lastname: Damoiseaux
mesh_terms: 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*
chemical_list: D018167:Receptors, Calcitriol; D014807:Vitamin D