4.5 Review Book Chapter

Genetics and Pathogenesis of Inflammatory Bowel Disease

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DOI: 10.1146/annurev-pathol-012615-044152

关键词

Crohn's disease; ulcerative colitis; genome-wide association study; causative variants

资金

  1. Doris Duke Charitable Foundation [2014103] Funding Source: Medline
  2. NIDDK NIH HHS [R01 DK071619, R56 DK095820, U01 DK062413, R01 DK097079] Funding Source: Medline
  3. NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES [R01DK071619, R01DK097079, R56DK095820] Funding Source: NIH RePORTER

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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.

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