title: Prevalence and significance of MEFV gene mutations in a cohort of patients with rheumatoid arthritis.
abstract: OBJECTIVE
  Pyrin/marenostrin, an inhibitory regulator of inflammation, is encoded by MEditerranean FeVer (MEFV) gene. Mutations of this gene are the cause of familial Mediterranean fever (FMF). A connection between MEFV gene mutations and rheumatic diseases has been suggested. The aim of this study was to explore the frequency and clinical significance of MEFV gene mutations in a cohort of Turkish patients with rheumatoid arthritis (RA).
  
  
  METHODS
  The study included 103 patients with RA and 103 age-, sex- and origin-matched healthy controls (HC). In all participants, genomic DNA was isolated and genotyped using amplification refractory mutation system or restriction fragment length polymorphism for the eight MEFV gene mutations (E148Q, M694V, M694I, M680I, V726A, A744S, R761H, and P369S). In the RA group, disease activity was determined using the disease activity score-28 (DAS-28), and radiological damage was evaluated by the modified Larsen scoring method.
  
  
  RESULTS
  Carrier rates of MEFV gene mutations were 26/103 (25.2%) and 24/103 (23.3%) in the RA and HC groups, respectively (p>0.05, OR: 0.9, 95% CI: 0.48-1.71). In the RA group, while deformed joint count was significantly higher in the mutation carrier group than those of the non-carrier group (p<0.05), the level of C-reactive protein, DAS-28 and modified-Larsen scores were slightly but not significantly higher in the carrier group.
  
  
  CONCLUSIONS
  The results of this study suggest that MEFV gene mutations appear to be an aggravating factor for the severity of RA, and consequently, patients with RA might be screened for MEFV gene mutations in countries where FMF is frequent. Whether the searching of MEFV gene mutations in RA patients is cost-effective deserves further investigations.
authors.affiliation: Department of Rheumatology, Faculty of Medicine, Firat University, 23119 Elazig, Turkey. kocassk@yahoo.com
authors.forename: Suleyman Serdar
authors.initials: SS
authors.lastname: Koca
authors.forename: Ebru Onalan
authors.initials: EO
authors.lastname: Etem
authors.forename: Bahar
authors.initials: B
authors.lastname: Isik
authors.forename: Huseyin
authors.initials: H
authors.lastname: Yuce
authors.forename: Metin
authors.initials: M
authors.lastname: Ozgen
authors.forename: Muhammet Sait
authors.initials: MS
authors.lastname: Dag
authors.forename: Ahmet
authors.initials: A
authors.lastname: Isik
mesh_terms: D001172:Arthritis, Rheumatoid / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D002097:C-Reactive Protein / Q000032:analysis; D015331:Cohort Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010456:Peptides, Cyclic / Q000097:blood / Q000276:immunology; D000071198:Pyrin; D011859:Radiography; D012720:Severity of Illness Index; D014421:Turkey; D014955:Wrist Joint / Q000000981:diagnostic imaging / Q000503:physiopathology
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D010456:Peptides, Cyclic; D000071198:Pyrin; C487763:cyclic citrullinated peptide; D002097:C-Reactive Protein; D004247:DNA