MEFV mutation frequency and effect on disease severity in ankylosing spondylitis

Abstract

Background/aim: To defne the frequency of familial Mediterranean fever gene (MEFV) mutations in ankylosing spondylitis (AS) and describe diferent clinical aspects of MEFV mutation carrier and noncarrier AS patients. Materials and methods: In 112 AS patients, Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and Bath Ankylosing Spondylitis Functional Index (BASFI) scores were calculated. Te frequencies of 12 diferent 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 identifed in 46 of 224 (20%) alleles and in 39 (35%) of AS patients. Te distribution of mutations was: M694V, 30% (14); E148Q, 30% (14); P369S, 17% (8); V726A, 13% (6); A744S, 8% (4); and K695R, 2% (1). Tere were no signifcant diferences 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 diferent between AS patients and healthy controls afer adjusting for mutations studied (34/224 versus 22/200; P > 0.05). Conclusion: Although we did not fnd signifcant clinical and laboratory diferences between MEFV mutation carrier and noncarrier AS patients, further investigations are needed to defne the impact of MEFV mutations on AS disease course. © TÜBİTAK.