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, corresponding author 1 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.

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

4Department of Internal Medicine, Gulhane School

Abstract

Background/Aims

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.

Methods

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

Results

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 analyses, 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.

Conclusions

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, MEFV gene mutations, Causality