Genetics of Behçet’s Disease

Abstract

Behçet’s disease (BD; MIM 109650) is an autoinflammatory disease characterized by with recurrent oral aphthae, genital ulcers and vasculitis involving the skin, joints, eyes, veins, arteries, nervous and gastrointestinal systems. Although the pathogenesis remains uncertain, genome-wide and validation studies have demonstrated that genetic predisposition is a major factor in disease susceptibility. Several gene polymorphisms that are involved in the response to pathogens and modulate inflammation have been associated with the pathophysiology of BD. Understanding the genetic association with BD may ensure insight into the pathogenesis and for development of targeted therapies for this autoinflammatory disease. This chapter will deal the role of genetic and epigenetic factors as contributing factors in the pathogenesis of BD.