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Annual Reviews, Annual Review of Pathology: Mechanisms of Disease, 1(11), p. 127-148, 2016

DOI: 10.1146/annurev-pathol-012615-044152

Nature Research, Nature, 7351(474), p. 307-317, 2011

DOI: 10.1038/nature10209

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Genetics and pathogenesis of inflammatory bowel disease

Journal article published in 2011 by Bernard Khor ORCID, Ta-Chiang Liu, Agnès Gardet, Ramnik J. Xavier, Thaddeus S. Stappenbeck
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

We are currently in an exciting time when our understanding of genetic underpinnings of inflammatory bowel disease (IBD) has undergone a revolution, based in large part on novel genotyping and sequencing technologies. With >160 susceptible loci identified for IBD, the goal is now to understand at a fundamental level the function of these susceptibility alleles. Determining the clinical relevance of how these susceptible genes shape the development of IBD is also a high priority. The main challenge is to understand how the environment and microbiome play a role in triggering disease in genetically susceptible individuals, as the interactions may be complex. To advance the field, novel in vitro and mouse models that are designed to interrogate complex genetics and functionally test hypotheses are needed. Ultimately, the goal of genetics studies will be to translate genetics to patients with IBD and improve their care.