The presence of mefv gene mutations in patients with primary osteoarthritis who require surgery

Article information

Korean J Intern Med. 2013 Sep; 28(5): 594–598.

Published online 2013 Aug 14. doi: 10.3904/kjim.2013.28.5.594

PMCID: PMC3759766

PMID: 24009456

Sedat Yilmaz,corrauth1 Hakan Erdem,1 Servet Tunay,2Deniz Torun,3 Halil Genc,4 Yusuf Tunca,3 Omer Karadag,1 Ismail Simsek,1 Muhterem Bahce,3 Salih Pay,1 and Ayhan Dinc1

1Division of Rheumatology, Gulhane School of Medicine, Ankara, Turkey.

2Department of Orthopedic Surgery, Gulhane School of Medicine, Ankara, Turkey.

3 Department of Medical Genetics, Gulhane School of Medicine, Ankara, Turkey.

4Department of Internal Medicine, Gulhane School

Copyright © 2013 The Korean Association of Internal Medicine



Chronic arthritis of familial Mediterranean fever (FMF) involves weight-bearing joints and can occur in patients without a history of acute attack. Our aim was to investigate a possible causal relationship between FMF and osteoarthritis in a population in which FMF is quite common.


Patients with late stage primary osteoarthritis were enrolled, and five MEFV gene mutations were investigated. The frequency of MEFVgene mutations was compared among patients with osteoarthritis and a previous healthy group from our center.


One hundred patients with primary osteoarthritis and 100 healthy controls were studied. The frequency of MEFV gene mutations was significantly lower in the osteoarthritis group (9% vs. 19%). M694V was the most frequent mutation (5%) in the osteoarthritis group, whereas in the control group, E148Q was the most common (16%). In subgroup analyzes, the mutation frequency of patients with hip osteoarthritis was not different from that of patients with knee osteoarthritis and controls (7.1%, 9.7%, and 19%, respectively). There were no differences among the three groups with respect to MEFV gene mutations other than E148Q (8.1% vs. 3.6%). E148Q was significantly lower in the osteoarthritis group than in the controls (16% vs. 1%), although the mutations did not differ between patients with knee osteoarthritis and controls.


In a population with a high prevalence of MEFV gene mutations, we did not find an increased mutation rate in patients with primary osteoarthritis. Furthermore, we found that some mutations were significantly less frequent in patients with osteoarthritis. Although the number of patients studied was insufficient to claim that E148Q gene mutation protects against osteoarthritis, the potential of this gene merits further investigation.

Keywords: Osteoarthritis, MEFVgene mutations, causality

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