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Rare MEFV variants are not associated with risk to develop multiple sclerosis and severity of disease

Ine Pauwels1, Leentje Cosemans, Steven Boonen

  • 1Department of Neurosciences, Laboratory for Neuroimmunology, Section of Experimental Neurology, KU Leuven, Belgium.

Multiple Sclerosis (Houndmills, Basingstoke, England)
|January 18, 2013
PubMed
Abstract

Insights

Rare variants in the Mediterranean fever (MEFV) gene were not linked to multiple sclerosis (MS) risk or severity. However, MEFV variants were associated with developing side effects from interferon-beta (IFN-β) treatment in MS patients.

Area of Science:

  • Genetics
  • Neurology
  • Immunology

Background:

  • Familial Mediterranean Fever (FMF) gene variants (MEFV) have been tentatively linked to multiple sclerosis (MS) risk and severity.
  • Investigating this association is crucial for understanding MS pathogenesis and potential therapeutic targets.

Purpose of the Study:

  • To examine the association between rare MEFV variants and MS susceptibility and severity in a Belgian population.
  • To explore the correlation between MEFV variants and clinical parameters, including response to treatment.

Main Methods:

  • MEFV gene sequencing in a cohort of 94 MS patients with specific symptoms or treatment histories.
  • Genotyping of five identified rare MEFV variants in 915 MS patients and 763 healthy controls.

Main Results:

  • No significant association was found between MEFV variants and MS susceptibility (p=0.99) or disease severity (p=0.78).
  • A statistically significant correlation (p=0.022) was observed between carrying MEFV variants and developing systemic side effects from interferon-beta (IFN-β) treatment.

Conclusions:

  • Contrary to some smaller studies, this research found no link between MEFV variants and MS risk or severity.
  • Carrying rare MEFV variants is associated with an increased risk of severe systemic side effects during IFN-β therapy for MS.
Keywords:
IFN-βMultiple sclerosisgeneticsimmunology

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