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Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis

Fulya Cosan1, Duran Ustek, Basar Oku

  • 1Istanbul University, Istanbul, Turkey.

Arthritis and Rheumatism
|July 30, 2010
PubMed
Abstract

Insights

Common MEFV gene variations, linked to Familial Mediterranean Fever, are more frequent in ankylosing spondylitis patients. These variations may play a role in AS development, particularly in high-prevalence populations.

Area of Science:

  • Genetics
  • Rheumatology
  • Immunology

Background:

  • Ankylosing spondylitis (AS) pathogenesis has a significant genetic component.
  • Familial Mediterranean Fever (FMF) is an autoinflammatory disorder caused by MEFV gene variations.
  • Previous studies suggest a clinical link between FMF and AS.

Purpose of the Study:

  • To investigate the association between common MEFV gene variations (M694V, M680I, V726A, E148Q) and AS in Turkish patients.
  • To analyze the correlation of these variations with clinical and laboratory features of AS.

Main Methods:

  • Genotyping of 193 AS patients and 103 healthy controls for 4 MEFV variations and HLA-B27.
  • Statistical analysis to determine the association of MEFV variations with AS and its clinical manifestations.

Main Results:

  • MEFV variations were significantly more prevalent in AS patients (22.3%) than in controls (9.7%).
  • Exon 10 variations (M694V, V726A, M680I) showed a stronger association with AS.
  • MEFV variations were more frequent in HLA-B27-negative AS patients, especially exon 10 variants.

Conclusions:

  • MEFV variations associated with FMF are linked to AS.
  • These genetic variations may contribute to AS pathogenesis, particularly in populations with high FMF prevalence.

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