Related Experiment Video
Updated: May 8, 2026
Clinical Protocol of Producing Adipose Tissue-Derived Stromal Vascular Fraction for Potential Cartilage Regeneration
Published on: September 29, 2018
The presence of MEFV gene mutations in patients with primary osteoarthritis who require surgery
Sedat Yilmaz1, Hakan Erdem, Servet Tunay
1Division of Rheumatology, Gulhane School of Medicine, Ankara, Turkey.
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.
Insights
Familial Mediterranean fever (FMF) gene mutations were less common in osteoarthritis patients. The E148Q mutation was significantly less frequent in those with osteoarthritis, suggesting a potential protective effect needing further study.
Area of Science:
- Genetics
- Rheumatology
- Internal Medicine
Background:
- Familial Mediterranean fever (FMF) can cause chronic arthritis affecting weight-bearing joints.
- This arthritis may occur without a history of acute FMF attacks.
- FMF is relatively common in certain populations.
Purpose of the Study:
- To investigate a potential causal link between FMF and osteoarthritis.
- To examine the frequency of MEFV gene mutations in osteoarthritis patients.
Main Methods:
- Studied 100 patients with late-stage primary osteoarthritis and 100 healthy controls.
- Analyzed the frequency of five common MEFV gene mutations.
- Compared mutation frequencies between the osteoarthritis and control groups.
Main Results:
- MEFV gene mutation frequency was lower in the osteoarthritis group (9%) compared to controls (19%).
- The E148Q mutation was significantly less frequent in osteoarthritis patients (1%) versus controls (16%).
- No significant differences in mutation rates were found for hip osteoarthritis compared to controls.
Conclusions:
- No increased MEFV gene mutation rate was observed in primary osteoarthritis patients.
- Certain MEFV mutations, particularly E148Q, were less frequent in osteoarthritis patients.
- Further research is warranted to explore if E148Q mutation offers protection against osteoarthritis.
Related Concept Videos
01:20Mismatch Repair
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
01:18Mutations in Microorganisms