Korean J Intern Med.  2013 Sep;28(5):594-598. 10.3904/kjim.2013.28.5.594.

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

• Yilmaz S
• Erdem H
• Tunay S
• Torun D
• Genc H
• Tunca Y
• Karadag O
• Simsek I
• Bahce M
• Pay S
• Dinc A

• KMID: 1780108
• DOI: http://doi.org/10.3904/kjim.2013.28.5.594

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 MEFV gene 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.

Keyword

Osteoarthritis; MEFV gene mutations; Causality

MeSH Terms

Adolescent
Adult
Case-Control Studies
Chi-Square Distribution
*Cytoskeletal Proteins
DNA Mutational Analysis
Familial Mediterranean Fever/diagnosis/epidemiology/*genetics
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
Male
Middle Aged
*Mutation
Osteoarthritis, Hip/diagnosis/epidemiology/*genetics/surgery
Osteoarthritis, Knee/diagnosis/epidemiology/*genetics/surgery
Phenotype
Risk Factors
Turkey/epidemiology
Young Adult
Cytoskeletal Proteins