INTESTINE Vol.18 No.6(1)

Theme Intestinal Behçet's disease and simple ulcer of the intestine
Title Brief overview of Behçet's disease and associated genetic defects
Publish Date 2014/11
Author Yoshiaki Ishigatsubo Department of Internal Medicine and Clinical Immunology, Yokohama City University Graduate School of Medicine
[ Summary ] Recently, the etiology of Behçet's disease, as a multi-factorial disease, has been analyzed using the genome-wide association study (GWAS) technique. As a result, many susceptible genes related to Behçet's disease have been identified, including Th1 related genes other than susceptible genes, such as HLA-B51. The development of future studies on ERAP (endoplasmic reticulum aminopeptidase) requires examination of the following points : first, ERAP is an enzyme involved in trimming peptides before fitting them to HLA;second, high synergy effects are seen in association with frequency of risk associated with alleles in HLA-B51-positive cases. Moreover, the concept of auto-inflammation has recently gained attention as an etiology associated with Behçet’s disease. Genes play a central role in auto-inflammation, including IL-1 and the MEFV, which have also been identified as disease susceptible genes.
back