Genetic predisposition to Behcet's disease mediated by a IL10RA enhancer polymorphism

This study identified a single functional causal SNP, rs4936415, in the IL10RA super-enhancer, conferring BD susceptibility. The protective G-allele of non-coding rs4936415 located inside an enhancer region of IL10RA promoted the enhancer activity and increased the expression of IL10RA.The risk C-allele is able to specifically bind NF-κB1 and, in turn, promotes enhancer activity of IL10RA. This subsequently leads to an increased expression of IL10RA. Low expression of IL-10RA suggests a relative deficiency of NF-κB1 in BD.