Association of MEFV mutations and vascular involvement in Behçet’s disease: a study from Hatay, Turkey

Introduction In this study, we aimed to determine the frequency of MEFV mutations in Behçet’s disease (BD) and to investigate the relationship between clinical findings of the disease and the MEFV mutations. Material and methods A total of 66 participants (30 BD patients, 36 healthy subjects) were included in this study. The MEFV gene was analyzed by using DNA sequence analysis. Results The distribution of MEFV mutations was not significantly different between the patients and the control group (p = 0.373). However, individuals with R202Q mutation had a risk of OR 4 times (95% CI: 1.1–14.5) higher than those without the mutation (p = 0.035). The rate of vascular involvement was statistically significantly higher in patients with the mutation than in patients without the mutation (p = 0.005). Conclusions MEFV mutation was associated with vascular involvement in patients with BD. This is also the first study to indicate that the R202Q mutation may have a role in BD. However large series from different regions are required to compare these results.