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The Genetics of Crohn’s Disease

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Molecular Genetics of Inflammatory Bowel Disease

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Abstract

This chapter summarises progress in understanding the genetic basis of Crohn’s disease (CD). It starts with a brief review of family studies for CD epidemiology and then summarises findings of the so-called “linkage era”. Given the success of genome-wide association studies (GWAS) in terms of identifying CD susceptibility loci, the focus of this chapter is on the key GWAS studies and their main results. These have demonstrated association with multiple Th17 pathway components and strongly implicated defects in innate immunity, particularly in autophagy and the handling of intracellular bacteria, as playing key roles in CD pathogenesis. Besides GWAS for adult-onset CD, paediatric-onset GWAS are discussed. Although paediatric-onset CD presents with more extensive disease and rapid progression compared to adult-onset CD, genetic studies have shown marked molecular similarities between the two disease forms. Not only have single GWAS contributed to completing the molecular map of CD genetics, but also systematic cross-phenotype analyses and meta-analyses of several CD GWAS, both of which are discussed in the current chapter. Lastly, the first sequencing studies for CD as well as future challenges are described.

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Author information

Authors and Affiliations

  1. Institute of Clinical Molecular Biology, Christian–Albrechts–University of Kiel, Schittenhelmstraße 12, 24105, Kiel, Schleswig-Holstein, Germany

    Andre Franke Ph.D.

  2. IBD Research Unit, Department of Medicine, University of Cambridge, Cambridge, UK

    Miles Parkes M.A., M.B.B.S., F.R.C.P., D.M.

Authors
  1. Andre Franke Ph.D.
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  2. Miles Parkes M.A., M.B.B.S., F.R.C.P., D.M.
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Correspondence to Andre Franke Ph.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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Franke, A., Parkes, M. (2013). The Genetics of Crohn’s Disease. 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_5

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