SNP-mediated binding of TBX1 to the enhancer element of reduces the risk of Behçet's disease.

The genetic association between Behçet's disease susceptibility and  has been confirmed in multiple cohorts, but the underlying mechanism of this association remains unclear. We combined public resources and laboratory experiments (electrophoretic mobility shift assays, chromatin immunoprecipitation, luciferase reporter gene and CRISPR/Cas9 genome editing) to analyze transcription factor binding and enhancer activity controlling expression. The T allele of noncoding rs3024490 within super-enhancer elements is able to specifically bind TBX1 and, in turn, promotes the enhancer activity and increased expression of . However, a relative deficiency in TBX1 in Behçet's disease patients leads to the low expression of and increased risk of developing Behçet's disease.