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Characterization of the enhancer and promoter landscape of inflammatory bowel disease from human colon biopsies

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  1. Combined burden and functional impact tests for cancer driver discovery using DriverPower

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  2. Genomic footprints of activated telomere maintenance mechanisms in cancer

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  3. Pathway and network analysis of more than 2500 whole cancer genomes

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  4. Prenatal dietary supplements influence the infant airway microbiota in a randomized factorial clinical trial

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  1. Direct and Indirect Costs of Inflammatory Bowel Disease: Ten Years of Follow Up in a Danish Population-Based Inception Cohort

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  2. Crohn's Disease With Progressive Renal Impairment

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  3. The clinical implication of the association between hypoxaemia and postoperative troponin I: a reply

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Inflammatory bowel disease (IBD) is a chronic intestinal disorder, with two main types: Crohn's disease (CD) and ulcerative colitis (UC), whose molecular pathology is not well understood. The majority of IBD-associated SNPs are located in non-coding regions and are hard to characterize since regulatory regions in IBD are not known. Here we profile transcription start sites (TSSs) and enhancers in the descending colon of 94 IBD patients and controls. IBD-upregulated promoters and enhancers are highly enriched for IBD-associated SNPs and are bound by the same transcription factors. IBD-specific TSSs are associated to genes with roles in both inflammatory cascades and gut epithelia while TSSs distinguishing UC and CD are associated to gut epithelia functions. We find that as few as 35 TSSs can distinguish active CD, UC, and controls with 85% accuracy in an independent cohort. Our data constitute a foundation for understanding the molecular pathology, gene regulation, and genetics of IBD.

Original languageEnglish
JournalNature Communications
Volume9
Issue number1
Pages (from-to)1661
ISSN2041-1723
DOIs
Publication statusPublished - 1 Apr 2018

    Research areas

  • Journal Article

ID: 53691543