Role of gene polymorphisms in vitamin D metabolism and in multiple sclerosis

Arh Hig Rada Toksikol. 2018 Mar 1;69(1):25-31. doi: 10.2478/aiht-2018-69-3065.


Multiple sclerosis (MS) is a complex inflammatory disease of the central nervous system (CNS) resulting in neurological impairment and disability. There is evidence that adequate vitamin D levels may lower the risk of MS development. The aetiology of MS is complex and involves both genetic and environmental factors. In fact, not one but several genes are believed to lead to the disease. As for environmental factors, one of the most important risk factors is vitamin D deficiency, which, in turn, is closely related to gene polymorphisms that play a role in vitamin D metabolism and regulation. However, information about these gene polymorphisms is quite contradictory. The aim of this review is to discuss the association between some of the vitamin D-related gene variants and MS.

Keywords: HLA-DRB1; cytochrome P; vitamin D receptor.

Publication types

  • Review

MeSH terms

  • Genetic Predisposition to Disease*
  • Humans
  • Multiple Sclerosis / genetics*
  • Multiple Sclerosis / physiopathology*
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Vitamin D / genetics*
  • Vitamin D / metabolism*
  • Vitamin D Deficiency / genetics*
  • Vitamin D Deficiency / physiopathology*


  • Vitamin D