The Genetic Aspects of Behçet’s Disease: Role of Cytokine Genes Polymorphisms

Abstract

Behçet's disease (BD) is a complex, multisystemic inflammatory disorder characterized by recurrent oral aphthous ulcers, ocular symptoms, skin lesions, and genital ulcerations. The etiology of BD is not yet clear though various factors including environmental, genetic and immunological ones have been implicated. Genetic predisposition is a major factor in disease susceptibility and multiple host genetic factors have been suggested to be involved in the development of BD. In addition to the positive association of HLAB*51, recent studies report additional independent associations in the non HLA loci. Single nucleotide polymorphisms (SNPs) in various genes including cytokines have been implicated in susceptibility to BD. However, the results are inconsistent and variation are found in several ethnic populations. Therefore, further genetic studies on BD patients of different ethnicity and genes associated with immunity are expected to elucidate BD pathogenesis and will contribute to the development of more targeted therapies and biomarkers.

Associations of IL-6 polymorphisms with Behçet’s Disease in Denizli, province of Turkey

“…Determining the relationships between diseases and genetic polymorphisms of cytokines (IL-1, IL-6, IL-8, IL-17, IFN-γ, TNF-α etc.) and their receptors which have important roles in the immune system contributes to the pathogenesis of BD [28].…”