I am a
Home I AM A Search Login

Papers of the Week

2022 Oct 10

Nucleosides Nucleotides Nucleic Acids

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


Sezer O, Nursal A F, Kuruca N, Yigit S
Nucleosides Nucleotides Nucleic Acids. 2022 Oct 10:1-12.
PMID: 36215175.


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 () gene insertion/deletion (I/D) functional variant in FMF Turkish patients. gene mutations were detected in all patients. The FMF patients (N:105) and the healthy controls (N:100) were genotyped for the 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-tests. The mean age of patients was 25.46 ± 10.09. Fifty-nine patients (56.2%) had two or more gene mutations. The most common mutation was M694V/M694V. The I/D variant genotype distribution exhibited a statistically significant difference between the patients and the controls. I/D genotype was higher in controls compared to patients, while D/D genotype was higher in patients compared to the controls , , respectively). When we examined the clinical findings, joint pain was more common in patients with D/D and I/D genotypes compared to I/I genotype (). Although not statistically significant, the most common genotype in patients with two or more mutations was D/D (28.6%). The results provided evidence supporting that the D/D genotype of the I/D variant is associated with an increased risk of FMF in a group of Turkish populations.