Using Hierarchical Similarity To Examine The Genetics of Behçet’s Disease

Abstract

Behçet's disease (BD) is a multisystem inflammatory disease that effects patients along the historic silk road. Thus far, the patheogensis of the disease has proved elusive due to the complex genetic interactions and unknown environmental or viral triggering factors of the disease. In this paper, we seek to clarify the gentic factors of the disease while also uncovering other diseases of interest that present with a similar genotype as BD. To do this, we employ a computational functional genomics approach by leveraging the hierarchical similarity tool available in Geneweaver. Through our analysis, we were able to ascertain 7 BD consensus genes and 16 autoimmune diseases with genetic overlap with BD. The results of our study will inform further research into the patheogenesis of Behçet's Disease.

Behçet's syndrome: one year in review 2022

“…Moreover, there was no mention of the universal association of HLA-B51 with BS (24). An informatic analysis to determine various molecular and genetic overlaps with BS and other "autoimmune" diseases utilised a convergent functional genomics approach and were able to ascertain 7 BS consensus genes and 16 overlap areas (25). The 7 BS consensus genes were HLA-B, IL-10, IL23R, HLA-A, STAT4, MICA and ERAP1 as expected while the overlap areas en-tailed conditions such as sarcoidosis, uveitis, Sjögren's syndrome, haemolytic anaemia and myositis.…”

“…The 7 BS consensus genes were HLA-B, IL-10, IL23R, HLA-A, STAT4, MICA and ERAP1 as expected while the overlap areas en-tailed conditions such as sarcoidosis, uveitis, Sjögren's syndrome, haemolytic anaemia and myositis. The idea that all inflammatory diseases could share various genetic mechanisms was an attractive hypothesis, but the absence of autoimmune features in BS and the lack of any clinical or pathologic association of BS with any of the mentioned conditions other than uveitis cast doubt on its validity (25). IL33/ST2 polymorphisms were studied in 585 BS patients with uveitis and 834 healthy controls since IL33 is an emerging pro-inflammatory cytokine and the so-called polymorphism has been implicated in the pathogenesis of various autoimmune diseases such as rheumatoid arthritis and systemic sclerosis (26).…”