Common Mediterranean fever (MEFV) gene mutations associated with ankylosing spondylitis in Turkish population
Yazarlar (5)
Serbulent Yigit
Ahmet Inanir
Esra Kesici
Dr. Öğr. Üyesi Nihan BOZKURT Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Makale Türü Özgün Makale (SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale)
Dergi Adı DISEASE MARKERS (Q2)
Dergi ISSN 0278-0240 Dergi Bilgileri (2012)
Makale Dili İngilizce Basım Tarihi 01-2012
Cilt / Sayı / Sayfa 33 / 3 / 113–118 DOI 10.1155/2012/890214
Makale Linki https://onlinelibrary.wiley.com/doi/abs/10.3233/DMA-2012-0911
UAK Araştırma Alanları
Tıbbi Biyoloji
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 …
Anahtar Kelimeler
Ankylosing spondylitis | MEFV gene | mutation | inflammatory rheumatic disease