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MEFV mutations in Japanese rheumatoid arthritis patients

K Migita1, T Nakamura, Y Maeda

  • 1Clinical Research Center, NHO Nagasaki Medical Center Omura, Japan.

Clinical and Experimental Rheumatology
|February 13, 2009
PubMed
Abstract

Insights

MEFV gene mutations are common in Japanese rheumatoid arthritis (RA) patients, but do not appear to increase RA susceptibility or amyloidosis risk in this population.

Area of Science:

  • Genetics
  • Rheumatology
  • Immunology

Background:

  • Familial Mediterranean Fever (FMF) is prevalent in Mediterranean populations but rare elsewhere.
  • The MEFV gene is associated with FMF, and its mutations are being investigated in other inflammatory conditions.

Purpose of the Study:

  • To investigate the frequency of MEFV gene mutations in Japanese rheumatoid arthritis (RA) patients.
  • To determine if MEFV mutations are associated with RA susceptibility or the development of amyloid A (AA) amyloidosis in Japanese individuals.

Main Methods:

  • Genotyping of MEFV mutations in 126 Japanese RA patients and 76 healthy Japanese controls.
  • Analysis of allele frequencies for specific MEFV mutations (R408Q, P369S, E148Q, L110P).

Main Results:

  • The M694I mutation was absent in all participants.
  • Allele frequencies for R408Q, P369S, E148Q, and L110P mutations were similar between RA patients and healthy controls.
  • Overall MEFV mutation rates did not differ significantly between RA patients with and without amyloidosis.

Conclusions:

  • MEFV gene mutations are highly prevalent in Japanese RA patients.
  • MEFV mutations do not appear to be a significant genetic risk factor for RA development or AA amyloidosis in the Japanese population.

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