Vascular endothelial growth factor gene polymorphisms in Behçet's disease

Area of Science:

• Genetics
• Immunology
• Ophthalmology

Background:

• Behçet's disease (BD) is a complex inflammatory disorder with a suspected genetic component.
• Vascular endothelial growth factor (VEGF) plays a crucial role in angiogenesis and immune responses, making it a candidate gene for BD susceptibility.

Purpose of the Study:

• To investigate the association between specific vascular endothelial growth factor (VEGF) gene polymorphisms and the risk of developing Behçet's disease (BD).
• To explore the correlation of these VEGF gene variations with clinical manifestations of BD.

Main Methods:

• Genotyping of 122 Italian BD patients and 200 healthy controls for VEGF gene polymorphisms: +936 C/T, -634 C/G, and -2549 18 bp insertion/deletion (I/D).
• Analysis of allele and genotype frequencies between BD patients and controls using statistical methods.
• In vitro assessment of VEGF production by peripheral blood mononuclear cells (PBMC) in relation to specific genotypes.

Main Results:

• The I allele (at -2549) and the -634C allele were found at significantly higher frequencies in BD patients compared to healthy controls.
• Allele +936T was more frequent in BD patients with posterior uveitis/retinal vasculitis.
• VEGF production by PBMC was higher in individuals homozygous for the II genotype compared to the DD genotype.

Conclusions:

• The study suggests that carriage of the -634C and I alleles in the VEGF gene is associated with an increased susceptibility to developing Behçet's disease.
• These VEGF gene polymorphisms may contribute to the pathogenesis of BD.