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Objective:  Familial Mediterranean fever (FMF) is one of the most common inherited autoinflammatory diseases. Angiogenesis is a feature of inflammatory activation and part of pathogenic processes in autoimmune diseases. Therefore, this study aimed to investigate the role of the Vascular endothelial growth factor ( VEGF ) gene insertion/deletion (I/D) functional variant in FMF Turkish patients.  Methods:MEFV  gene mutations were detected in all patients. The FMF patients (N:105) and the healthy controls (N:100) were genotyped for the  VEGF  I/D variant using PCR followed by agarose gel electrophoresis. The results were statistically analyzed by calculating the odds ratios (OR) and their 95% confidence intervals (95% CI) using the χ 2 -tests.  Results:  The mean age of patients was 25.46 ± 10.09. Fifty-nine patients (56.2%) had two or more  MEFV  gene mutations. The most common  MEFV  mutation was M694V/M694V. The  VEGF  I/D variant genotype distribution exhibited a statistically significant difference between the patients and the controls.  VEGF  I/D genotype was higher in controls compared to patients, while D/D genotype was higher in patients compared to the controls  (p = 0.003 ,  p = 0.013 , respectively). When we examined the clinical findings, joint pain was more common in patients with  VEGF  D/D and I/D genotypes compared to I/I genotype ( p = 0.043 ). Although not statistically significant, the most common genotype in patients with two or more  MEFV  mutations was  VEGF  D/D (28.6%).  Conclusion:  The results provided evidence supporting that the D/D genotype of the  VEGF  I/D variant is associated with an increased risk of FMF in a group of Turkish populations.

The effect of a 18 bp deletion/insertion variant of VEGF gene on the FMF development