Common Mediterranean Fever MEFV Gene Mutations Associated with Ankylosing Spondylitis in Turkish Population     
Yazarlar (5)
Serbülent Yiğit
Türkiye
Ahmet İnanır
Türkiye
Esra Kesici
Türkiye
Dr. Öğr. Üyesi Nihan BOZKURT Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Makale Türü Özgün Makale
Makale Alt Türü SCOPUS dergilerinde yayınlanan tam makale
Dergi Adı Disease Markers
Dergi ISSN 0278-0240 Wos Dergi Scopus Dergi
Dergi Tarandığı Indeksler SCOPUS
Makale Dili İngilizce
Basım Tarihi 09-2011
Cilt No 33
Sayı 3
Sayfalar 113 / 118
DOI Numarası 10.3233/DMA-2012-0911.
Makale Linki www.ncbi.nlm.nih.gov/pmc/articles/PMC3810788/pdf/DM33-03-890214.pdf
Özet
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.
Anahtar Kelimeler
Ankylosing spondylitis | MEFV gene | mutation | inflammatory rheumatic disease