Redefining the IBDs using genome-scale molecular phenotyping.

Nature Reviews. Gastroenterology & Hepatology
Terrence S FureyShehzad Z Sheikh

Abstract

The IBDs, Crohn's disease and ulcerative colitis, are chronic inflammatory conditions of the gastrointestinal tract resulting from an aberrant immune response to enteric microbiota in genetically susceptible individuals. Disease presentation and progression within and across IBDs, especially Crohn's disease, are highly heterogeneous in location, severity of inflammation and other phenotypes. Current clinical classifications fail to accurately predict disease course and response to therapies. Genome-wide association studies have identified >240 loci that confer risk of IBD, but the clinical utility of these findings remains unclear, and mechanisms by which the genetic variants contribute to disease are largely unknown. In the past 5 years, the profiling of genome-wide gene expression, epigenomic features and gut microbiota composition in intestinal tissue and faecal samples has uncovered distinct molecular signatures that define IBD subtypes, including within Crohn's disease and ulcerative colitis. In this Review, we summarize studies in both adult and paediatric patients that have identified different IBD subtypes, which in some cases have been associated with distinct clinical phenotypes. We posit that genome-scale molecular p...Continue Reading

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Citations

Jul 15, 2020·Nature Reviews. Rheumatology·Eric GraceyDirk Elewaut
Aug 9, 2020·Inflammatory Bowel Diseases·Giuseppe Lo SassoSayar R Abdulkhakov
Jul 28, 2019·International Journal of Molecular Sciences·Jacob Tveiten Bjerrum, Ole Haagen Nielsen
Jun 21, 2020·International Journal of Molecular Sciences·Carmen ParisioCarla Ghelardini
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Nov 6, 2020·Deutsches Ärzteblatt International·Torsten KucharzikAxel Dignass
Jan 1, 2021·The New England Journal of Medicine·John T Chang
Mar 9, 2021·Expert Opinion on Therapeutic Targets·Yaoyao DuBing Wang
Nov 6, 2020·Journal of Crohn's & Colitis·M D VoskuilR K Weersma
May 1, 2021·Journal of Personalized Medicine·Alfredo CesarioGiovanni Scambia
Jul 25, 2021·Human Genomics·Kiera BergerGreg Gibson
May 8, 2021·Journal of Crohn's & Colitis·Katja A SelinEduardo J Villablanca

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Methods Mentioned

BETA
RNA-seq
RRBS
FAIRE-seq
Hi-C
exome sequencing
immunoprecipitation
methylation sequencing
PCR
biopsy
acetylation

Software Mentioned

IBD Plexus

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