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Association of MEFV gene mutations with rheumatoid factor levels in patients with rheumatoid arthritis

Ahmet Inanir1, Serbulent Yigit, Nevin Karakus

  • 1Department of Physical Therapy and Rehabilitation, Faculty of Medicine, Gaziosmanpasa University, Tokat, Turkey. inanira@gmail.com

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research
|January 31, 2013
PubMed
Abstract

Insights

Mediterranean fever (MEFV) gene mutations are not linked to rheumatoid arthritis (RA) predisposition but may worsen RA severity. Further research is needed to clarify the role of MEFV mutations in RA pathogenesis.

Area of Science:

  • Genetics
  • Rheumatology
  • Autoimmune Diseases

Background:

  • Rheumatoid arthritis (RA) is a systemic autoimmune disease impacting joints.
  • Mutations in the Mediterranean fever (MEFV) gene are linked to arthritis disorders.
  • The MEFV gene is known for causing familial Mediterranean fever.

Purpose of the Study:

  • To investigate the frequency of MEFV gene mutations in Turkish RA patients.
  • To explore the clinical significance of MEFV gene mutations in RA.
  • To determine if MEFV mutations are associated with RA predisposition or severity.

Main Methods:

  • 101 RA patients and 110 healthy controls were included.
  • Genomic DNA was extracted and genotyped for five common MEFV mutations (M694V, M680I, V726A, E148Q, P369S).
  • Polymerase chain reaction and restriction fragment length polymorphism were used for genotyping.

Main Results:

  • MEFV mutation carrier rates were 30.7% in RA patients and 23.6% in controls (P > 0.05).
  • While deformed joint count was similar, rheumatoid factor levels were significantly higher in RA patients carrying MEFV mutations (P = 0.001).

Conclusions:

  • MEFV gene mutations do not appear to predispose individuals to developing RA.
  • MEFV mutations may be associated with increased RA severity, particularly higher rheumatoid factor levels.
  • Further studies are required to elucidate the precise role of MEFV mutations in RA pathogenesis.

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