Affiliations: Department of Medical Biology, Faculty of Medicine,
Gaziosmanpasa University, Tokat, Turkey | Department of Physical therapy and Rehabilitation,
Faculty of Medicine, Gaziosmanpasa University, Tokat, Turkey | Department of Medical Biology, Faculty of Medicine,
Ondokuz Mayis University, Samsun, Turkey
Note: [] Corresponding author: Dr. Nevin Karakus, Department of Medical
Biology, Faculty of Medicine, Gaziosmanpasa University, 60100, Tokat, Turkey.
Tel.: +90 356 2129500/7353; Fax: +90 356 2133179; E-mail:
[email protected]
Abstract: Ankylosing spondylitis (AS) is a common inflammatory rheumatic
disease. Mediterranean fever (MEFV) gene, which has already been identified as
being responsible for familial Mediterranean fever (FMF), is also a suspicious
gene for AS because of the clinical association of these two diseases. The aim
of this study was to explore the frequency and clinical significance of MEFV
gene mutations (M694V, M680I, V726A, E148Q and P369S) in a cohort of Turkish
patients with AS. Genomic DNAs of 103 AS patients and 120 controls were
isolated and genotyped using polymerase chain reaction (PCR) and restriction
fragment length polymorphism (RFLP) methods. There was a statistically
significant difference of the MEFV gene mutation carrier rates between AS
patients and healthy controls (p=0.004, OR: 2.5, 95% CI: 1.32–4.76). This
association was also observed in allele frequencies (p=0.005, OR: 2.3, 95% CI:
1.27–4.2). A relatively higher frequency was observed for M694V mutation
in AS patients than controls (10.7% versus 4.2% , p=0.060). There were no
significant differences between MEFV mutation carriers and non-carriers with
respect to the clinical and demographic characteristics. The results of this
study suggest that MEFV gene mutations are positively associated with a
predisposition to develop AS.
