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The vitamin D receptor gene FokI polymorphism and Multiple Sclerosis in a Northern Portuguese population

Andreia Bettencourt1, Daniela Boleixa2, Ana Luísa Guimarães2

  • 1Immunogenetics Laboratory, Abel Salazar Institute of Biomedical Sciences (ICBAS), University of Porto (UP), Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine (UMIB), Abel Salazar Institute of Biomedical Sciences (ICBAS), University of Porto (UP), Porto, Portugal.

Journal of Neuroimmunology
|June 12, 2017
PubMed
Abstract

Insights

The FokI ff genotype is linked to increased Multiple Sclerosis (MS) risk in Portuguese individuals. This specific vitamin D receptor (VDR) gene variation did not influence MS disease progression or severity.

Area of Science:

  • Genetics
  • Immunology
  • Neurology

Background:

  • Multiple Sclerosis (MS) is an autoimmune disease influenced by genetic and environmental factors.
  • Vitamin D is an immune modulator, and its active form interacts with the Vitamin D Receptor (VDR).
  • The VDR plays a role in immune regulation, potentially impacting T-helper cell proliferation.

Purpose of the Study:

  • To investigate the association between the FokI VDR gene polymorphism and the development of MS.
  • To determine if the FokI VDR polymorphism correlates with MS disease progression or disability.

Main Methods:

  • Genotyping of the FokI VDR polymorphism in 533 Portuguese MS patients and 446 healthy controls.
  • Assessment of serum 25-hydroxyvitamin D [25(OH)D] levels in participants.
  • Statistical analysis to compare genotype frequencies and their association with MS and vitamin D levels.

Main Results:

  • A significantly higher frequency of the FokI ff genotype was found in MS patients compared to controls (15.6% vs. 10.1%).
  • No significant association was observed between FokI VDR genotypes and MS disease course, progression, or disability.
  • Serum 25(OH)D levels were not significantly associated with any of the studied FokI VDR genotypes.

Conclusions:

  • The FokI ff genotype is associated with an increased susceptibility to developing Multiple Sclerosis.
  • The FokI VDR polymorphism does not appear to influence the clinical course or progression of MS.
  • Further research is warranted to elucidate the role of vitamin D, its metabolites, and VDR in MS pathogenesis.
Keywords:
FokIMultiple SclerosisPortugalVDR

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