Table 1.

Correlation between Enhancer Alteration and Human Disease [22,65,77–82]

Name of disease	Genetic defect	Identification of superenhancer	Disease alleviation	Refs
JIA	Superenhancer in JIA patient synovial fluid derived CD4+ memory–effector T cells	H3K27Ac ChIP	JQ1 inhibits superenhancer: reduced disease associated gene expression	80
Multiple myeloma	Translocation of 3′ IgH superenhancer to MYC gene	18-fold more mediator, 16-fold more BRD4, higher H3K27 binding	Treatment with JQ1: loss of BRD4 at superenhancers and transcription elongation defects	78
Acute lymphoblastic leukemia	Introduction of binding motifs for MYB transcription factor upstream of TAL1 oncogene creating a super-enhancer	H3K27Ac ChIP	CRISPR-Cas9 deletion of enhancer region causes complete abrogation of TAL-1 expression	79
Diffuse large B cell lymphoma	Enhancer-associated factor BRD4 binds to POU2AF1, BCL6, PAX5, IRF8 genes; all essential for B cell fate determination, germinal center formation.	BRD4 and confirmed with H3K27Ac	JQ1 abolishes BRD4 binding	22
Cornelia de Lange syndrome	Defective NIPBL fails to facilitate looping of enhancers to promoters			82
HD	Downregulation of genes controlled by superenhancers in HD striatum	H3K27Ac		77
RA	Half of RA risk genes in CD4+ T cells link to superenhancers	H3K27Ac	Treatment with Janus kinase inhibitor tofacitinib impacts superenhancer–gene interaction	81

Abbreviations: BRD4, [CK17]; ChIP, chromatin immunoprecipitation; HD, Huntington’s disease; JIA, juvenile idiopathic arthritis; NIPBL,; RA, rheumatoid arthritis.