title: MEFV mutations in Japanese rheumatoid arthritis patients.
abstract: OBJECTIVE
  Familiar Mediterranean Fever (FMF) is common among Mediterranean populations, while other populations are rarely affected. The aim of this study was to assess the involvement of MEFV gene mutations among Japanese rheumatoid arthritis patients with or without amyloid A (AA) amyloidosis.
  
  
  METHODS
  The frequency of the MEFV mutations, which were identified in Japanese FMF patients, was determined in 126 Japanese RA patients and 76 Japanese healthy subjects.
  
  
  RESULTS
  The M694I mutation was not observed among RA patients and healthy subjects. Allele frequency of R408Q, P369S, E148Q, L110P mutations account respectively for 3.3%, 3.9%, 23.7%, 9.2% in healthy subjects and 5.6%, 6.7%, 24.2%, 9.5% in RA patients. The overall mutation rate was comparable between the RA patients and healthy subjects, as well as between the RA patients with and without amyloidosis.
  
  
  CONCLUSIONS
  This study shows the high prevalence of mutations of the MEFV genes in Japanese RA patients. However, our data suggest that the MEFV gene mutations may not be a genetic factor affecting the susceptibility of RA or the development of amyloidosis in a Japanese population.
authors.affiliation: Clinical Research Center, NHO Nagasaki Medical Center Omura, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Migita
authors.forename: T
authors.initials: T
authors.lastname: Nakamura
authors.forename: Y
authors.initials: Y
authors.lastname: Maeda
authors.forename: T
authors.initials: T
authors.lastname: Miyashita
authors.forename: T
authors.initials: T
authors.lastname: Koga
authors.forename: M
authors.initials: M
authors.lastname: Tanaka
authors.forename: M
authors.initials: M
authors.lastname: Nakamura
authors.forename: A
authors.initials: A
authors.lastname: Komori
authors.forename: H
authors.initials: H
authors.lastname: Ishibashi
authors.forename: T
authors.initials: T
authors.lastname: Origuchi
authors.forename: H
authors.initials: H
authors.lastname: Ida
authors.forename: E
authors.initials: E
authors.lastname: Kawasaki
authors.forename: M
authors.initials: M
authors.lastname: Yasunami
authors.forename: K
authors.initials: K
authors.lastname: Eguchi
mesh_terms: D000368:Aged; D000686:Amyloidosis / Q000208:ethnology / Q000235:genetics; D001172:Arthritis, Rheumatoid / Q000208:ethnology* / Q000235:genetics*; D044466:Asian People / Q000706:statistics & numerical data*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000208:ethnology / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D015995:Prevalence; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin