IL-18 gene polymorphisms in aphthous stomatitis vs. Behçet's disease in a cohort of Egyptian patients

A clinical investigation of the potential correlation of two single-nucleotide polymorphisms at -137 (G/C) and -607 (C/A) in the promoter region of the IL-18 gene, with the susceptibility to aphthous stomatitis and Behçet's disease.

This study included 80 aphthous stomatitis patients and 80 patients with Behçet's disease. Eighty healthy subjects were enrolled as a control group. IL-18 single-nucleotide polymorphisms at -607 and -137 regions were analyzed using polymerase chain reaction-restriction fragment length polymorphism analysis.

The genotype and allele distributions of the two regions did not differ significantly between patients with aphthous stomatitis and controls. The genotype and allele distributions at -607 were significantly different between patients with Behçet's disease [CC (P = 0.044), C allele (P = 0.043), A allele (P = 0.043)], and controls. The frequency of the GG genotype at position -137 in patients with Behçet's disease was associated only with a higher rate of ocular manifestations (OR= 1.4, CI= 0.76-2.7, P = 0.031).

IL-18 gene polymorphisms were not associated with any susceptibility to aphthous stomatitis, while a positive association was found with patients with Behçet's disease regarding -607 promoter site. Moreover, patients with Behçet's disease carrying the GG genotype at position -137 had a higher risk of developing ocular manifestations.