Genetics of Behcet's disease

Purpose of reviewThis article discusses recent genetic and epigenetic associations involved in the pathogenesis of Behcet's disease.Recent findingsGenetic studies have supported the strong association of human leukocyte antigen-B and Behcet's disease, and high production of tumour necrosis factor and low production of interleukin (IL)-10, which have led to therapy based on controlling these effects. Polymorphisms that affect the response to pathogens (TLR and FUT2) are leading to increased interest in responses to microbiomes. Inflammation in Behcet's disease results in vascular damage and several single nucleotide polymorphisms in chemokine and adhesion molecules may be involved in this process. Increased levels of inflammatory cytokines including IL-1 and IL-17 have been linked to altered expression of microRNAs, miR155, miR21 and miR23b. DNA methylation changes in monocytes and lymphocytes have been described that affect the function of these cells.SummaryGenetic and epigenetic changes affecting cells and molecules involved in Behcet's disease offer new pathways for research, including cytoskeletal protein function, that will provide new targets for therapy, and potentially address the ethnic differences seen in validation of gene studies.