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Molecular Genetics of Inflammatory Bowel Disease pp 87–97Cite as

Complex Disease Genes and Their Discovery

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Abstract

The study of the genetic underpinning of heritable human diseases stretches back nearly a century. While thousands of mutations in single genes have been found that cause severe “Mendelian” disorders, attempts to find such single genes for complex diseases have been relatively unsuccessful. Instead it has become clear that complex diseases, like IBD, are affected by many (likely hundreds or even thousands) different genes as well as environmental factors. Here we describe the process by which that discovery was made, as well as the technological advances from small-scale candidate gene to genome-wide association studies. These approaches, especially when undertaken in large-scale collaborations, have unlocked thousands of complex disease genes, including 163 associated with IBD. Despite these exciting developments, the discovery of genes represents the first stage in translating that knowledge into biological understanding of disease and possible future treatments.

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Author information

Authors and Affiliations

  1. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1HH, UK

    Jeffrey C. Barrett B.S., D.Phil.

  2. Simches Research Center, Massachusetts General Hospital, 185 Cambridge Street, CPZN 6818, Boston, MA, 02114, USA

    Mark J. Daly Ph.D.

  3. Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, 185 Cambridge Street, CPZN 6818, Boston, MA, 02114, USA

    Mark J. Daly Ph.D.

Authors
  1. Jeffrey C. Barrett B.S., D.Phil.
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  2. Mark J. Daly Ph.D.
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Corresponding author

Correspondence to Jeffrey C. Barrett B.S., D.Phil. .

Editor information

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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Barrett, J.C., Daly, M.J. (2013). Complex Disease Genes and Their Discovery. 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_4

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