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

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  1. An atlas of O-linked glycosylation on peptide hormones reveals diverse biological roles

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  2. Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours

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  3. Author Correction: Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma

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  4. Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

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  5. Functional hypoxia drives neuroplasticity and neurogenesis via brain erythropoietin

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  1. Fecal Microbiota Transplantation in the Treatment of Chronic Pouchitis: A Systematic Review

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  2. EUS-guided through-the-needle microbiopsy of pancreatic cysts: Technical aspects (with video)

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  3. Association between vancomycin-resistant Enterococcus faecium colonization and subsequent infection: a retrospective WGS study

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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