title: MEFV mutation frequency and effect on disease severity in ankylosing spondylitis.
abstract: OBJECTIVE
  To define the frequency of familial Mediterranean fever gene (MEFV) mutations in ankylosing spondylitis (AS) and describe different clinical aspects of MEFV mutation carrier and noncarrier AS patients.
  
  
  METHODS
  In 112 AS patients, Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI) scores were calculated. The frequencies of 12 different MEFV mutations were studied by multiplex polymerase chain reaction/reverse hybridization method and were compared to those of previously studied healthy controls for 5 common MEFV mutations.
  
  
  RESULTS
  MEFV mutations were identified in 46 of 224 (20%) alleles and in 39 (35%) of AS patients. The distribution of mutations was: M694V, 30% (14); E148Q, 30% (14); P369S, 17% (8); V726A, 13% (6); A744S, 8% (4); and K695R, 2% (1). There were no significant differences between MEFV mutation carriers and noncarriers with respect to sex, age of symptom onset, disease duration, peripheral joint involvement, acute phase reactant levels, and BASDAI and BASFI scores (P > 0.05 all). MEFV mutation allelic frequency was not different between AS patients and healthy controls after adjusting for mutations studied (34/224 versus 22/200; P > 0.05).
  
  
  CONCLUSIONS
  Although we did not find significant clinical and laboratory differences between MEFV mutation carrier and noncarrier AS patients, further investigations are needed to define the impact of MEFV mutations on AS disease course.
authors.forename: Yiiksel
authors.initials: Y
authors.lastname: Maraş
authors.forename: Ali
authors.initials: A
authors.lastname: Akdoğan
authors.forename: Bünyamin
authors.initials: B
authors.lastname: Kisacik
authors.forename: Levent
authors.initials: L
authors.lastname: Kiliç
authors.forename: Engin
authors.initials: E
authors.lastname: Yilmaz
authors.forename: Abdurrahman
authors.initials: A
authors.lastname: Tufan
authors.forename: Umut
authors.initials: U
authors.lastname: Kalyoncu
authors.forename: Şaziye Şule
authors.initials: ŞŞ
authors.lastname: Apraş Bilgen
authors.forename: Sedat
authors.initials: S
authors.lastname: Kiraz
authors.forename: Ali İhsan
authors.initials: Aİ
authors.lastname: Ertenli
authors.forename: Meral
authors.initials: M
authors.lastname: Çalgüneri
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D000071198:Pyrin; D012720:Severity of Illness Index; D013167:Spondylitis, Ankylosing / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin