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Molecular Genetics of Inflammatory Bowel Disease pp 3–21Cite as

A Primer on IBD: Phenotypes, Diagnosis, Treatment, and Clinical Challenges

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Abstract

The inflammatory bowel diseases are chronic, relapsing disorders characterized by inflammation and ulceration in part of or the entire gastrointestinal tract. IBD affects people worldwide but is most prevalent in northern Europe and North America. Etiologically, the current consensus is that the intestinal inflammation is largely caused by an aberrant and excessive immune response to environmental triggers (intestinal bacterial infection, medications, or other agents) in genetically susceptible individuals. IBD exerts a heavy toll on patients’ quality of life and imposes a considerable economic burden on the healthcare system. Some forms of IBD lead to severe complications such as formation of fistulae and intestinal strictures, for which management options are very limited. Moreover, many IBD patients develop drug tolerance and toxic responses, which severely compromise the disease control. Over the past decade, modern genetics has led to a new era of IBD research. Up to 163 genes have been identified to be associated with IBD. A growing number of new diagnostic tools and therapeutic agents resulted from the IBD genetics have already been implemented in the management of IBD; however, unmet needs persist. By utilizing new experimental tools such as powerful next-generation DNA sequencing machines along with accessing large cohorts of IBD patients, genetic studies will lead to a better understanding of the causes of individual IBD, more diagnostic tools to aid in evaluating the disease course and responsiveness to treatment, more novel targets to be identified for new drug development, and ultimately the most desirable strategies for IBD prevention.

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Authors and Affiliations

  1. Division of Gastroenterology, Department of Medicine, Albany Medical College, Albany, NY, USA

    Xinjun Cindy Zhu M.D. & Richard P. MacDermott M.D.

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  1. Xinjun Cindy Zhu M.D.
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  2. Richard P. MacDermott M.D.
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Correspondence to Xinjun Cindy Zhu M.D. .

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Editors and Affiliations

  1. Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden

    Mauro D'Amato

  2. Research Center, Montreal Heart Institute, Montreal, Québec, Canada

    John D Rioux

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Zhu, X.C., MacDermott, R.P. (2013). A Primer on IBD: Phenotypes, Diagnosis, Treatment, and Clinical Challenges. In: D'Amato, M., Rioux, J. (eds) Molecular Genetics of Inflammatory Bowel Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-8256-7_1

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