Affiliation:
1. The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Lab of Ophthalmology, Chongqing Eye Institute, Chongqing Branch of National Clinical Research Center for Ocular Diseases, Chongqing, PR China
2. University Eye Clinic Maastricht, Maastricht, Limburg, The Netherlands
Abstract
Aims: The genetic association between Behçet’s disease susceptibility and IL-10 has been confirmed in multiple cohorts, but the underlying mechanism of this association remains unclear. Materials & methods: 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 IL-10 expression. Results & conclusion: 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 IL-10. However, a relative deficiency in TBX1 in Behçet’s disease patients leads to the low expression of IL-10 and increased risk of developing Behçet’s disease.
Funder
Chongqing Outstanding Scientists Project
Natural Science Foundation Major International (Regional) Joint Research Project
National Natural Science Foundation Key Program
Chongqing Science & Technology Platform and Base Construction Program
Chongqing Key Laboratory of Ophthalmology
Chongqing Chief Medical Scientist Project
Cited by
1 articles.
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