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IBD Genomic Risk Loci and Overlap with Other Inflammatory Diseases

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Molecular Genetics of Inflammatory Bowel Disease

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Abstract

Although it has been known for decades that susceptibility to inflammatory bowel disease (IBD) and its major subtypes is partly inherited, significant progress has been made in elucidating the genetic architecture of this disease only recently. The advent of genome-wide association studies (GWAS), together with the emergence of collaborative consortia, laid the foundation for extremely powerful genetic meta-analyses. This has led to crucial advances in the understanding of the pathophysiology of IBD, facilitating the identification of the underlying candidate pathogenic mechanisms. To date, approximately 250 IBD predisposing loci have been identified, indicating the immense complexity of the disease. The functional characterization of the genes mapping to these loci has particularly underscored the importance of immune system-related pathways in the development of IBD, showing a significant overlap of IBD with other immune-mediated disorders (IMDs) in the genetic architecture. However, despite the considerable advances in characterizing the genetic basis of this disease, aspects of the intricacy of IBD pathogenesis remain enigmatic and likely larger, as well as complementary data sets are required. In this chapter, we review the advancements in deciphering the genetic basis of IBD from candidate gene studies to GWAS and powerful meta-analyses and discuss the genetic overlaps of IBD with other IMDs.

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Authors and Affiliations

  1. School of Advanced Technologies in Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

    Fatemeh Hadizadeh

  2. The Edinburgh IBD Unit, Western General Hospital, Edinburgh, UK

    Charlie W. Lees

  3. Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network and Department of Medicine, University of Toronto, Toronto, ON, Canada

    Catherine Labbé

  4. Montreal Heart Institute and Université de Montréal, Montréal, QC, Canada

    John D. Rioux

  5. Division of Gastroenterology, Addenbrooke’s Hospital and Department of Medicine, University of Cambridge, Cambridge, UK

    Miles Parkes

  6. Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands

    Alexandra Zhernakova

  7. Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany

    Andre Franke

  8. Gastroenterology unit, Patient Area Gastroenterology, Dermatovenereology and Rheumatology, Karolinska University Hospital, Stockholm, Sweden

    Charlotte Hedin

  9. School of Biological Sciences, Monash University, Clayton, VIC, Australia

    Mauro D’Amato

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  1. Fatemeh Hadizadeh
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  4. John D. Rioux
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  5. Miles Parkes
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  6. Alexandra Zhernakova
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  7. Andre Franke
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  8. Charlotte Hedin
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  9. Mauro D’Amato
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Correspondence to Mauro D’Amato .

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Editors and Affiliations

  1. Gastroenterology unit, Patient Area Gastroenterology, Dermatovenereology and Rheumatology, Karolinska University Hospital, Stockholm, Sweden

    Charlotte Hedin

  2. Montreal Heart Institute and Université de Montréal, Montréal, QC, Canada

    John D. Rioux

  3. School of Biological Sciences, Monash University, Clayton, VIC, Australia

    Mauro D'Amato

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Hadizadeh, F. et al. (2019). IBD Genomic Risk Loci and Overlap with Other Inflammatory Diseases. In: Hedin, C., Rioux, J., D'Amato, M. (eds) Molecular Genetics of Inflammatory Bowel Disease. Springer, Cham. https://doi.org/10.1007/978-3-030-28703-0_5

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