title: Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis.
abstract: OBJECTIVE
  The pathogenesis of ankylosing spondylitis (AS) has a strong genetic contribution. Familial Mediterranean fever (FMF) is an autosomal recessively inherited autoinflammatory disorder caused by MEFV gene missense variations, and a clinical association between FMF and AS has been reported previously. The aim of this study was to analyze the association of common MEFV variations (M694V, M680I, V726A, and E148Q) with AS in a group of Turkish patients.
  
  
  METHODS
  The study group comprised 193 patients with AS and 103 matched healthy control subjects. All individuals were genotyped for 4 MEFV variations and HLA-B27 using genomic DNA, and association of the variations with the clinical and laboratory features of the patients was analyzed.
  
  
  RESULTS
  The MEFV missense variations were significantly more frequent in patients with AS (22.3%) compared with healthy control subjects (9.7%; odds ratio [OR] 2.67, 95% confidence interval [95% CI] 1.28-5.56). This difference was more prominent for exon 10 variations (M694V, V726A, M680I) (OR 3.75, 95% CI 1.41-9.97), especially for the most-penetrant variation M694V (OR 4.73, 95% CI 1.39-16.12). MEFV variations were more frequent in HLA-B27-negative patients with AS, and the difference was statistically significant in patients carrying exon 10 variants.
  
  
  CONCLUSIONS
  FMF-related MEFV variations are associated with AS, and these variations may contribute to the pathogenesis of AS, especially in populations in which the prevalence of FMF is high.
authors.affiliation: Istanbul University, Istanbul, Turkey.
authors.forename: Fulya
authors.initials: F
authors.lastname: Cosan
authors.forename: Duran
authors.initials: D
authors.lastname: Ustek
authors.forename: Basar
authors.initials: B
authors.lastname: Oku
authors.forename: Julide
authors.initials: J
authors.lastname: Duymaz-Tozkir
authors.forename: Aris
authors.initials: A
authors.lastname: Cakiris
authors.forename: Neslihan
authors.initials: N
authors.lastname: Abaci
authors.forename: Lale
authors.initials: L
authors.lastname: Ocal
authors.forename: Orhan
authors.initials: O
authors.lastname: Aral
authors.forename: Ahmet
authors.initials: A
authors.lastname: Gül
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D016017:Odds Ratio; D000071198:Pyrin; D013167:Spondylitis, Ankylosing / Q000235:genetics*; D014421:Turkey
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin