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Understanding type 1 diabetes through genetics: advances and prospects

Journal

NATURE REVIEWS GENETICS
Volume 12, Issue 11, Pages 781-792

Publisher

NATURE PUBLISHING GROUP
DOI: 10.1038/nrg3069

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Funding

  1. Montreal Childrens' Hospital Foundation
  2. US National Institutes of Health (NIH)
  3. Juvenile Diabetes Research Foundation
  4. Canadian Diabetes Association
  5. Montreal Children's Hospital Research institute

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Starting with early crucial discoveries of the role of the major histocompatibility complex, genetic studies have long had a role in understanding the biology of type 1 diabetes (T1D), which is one of the most heritable common diseases. Recent genome-wide association studies (GWASs) have given us a clearer picture of the allelic architecture of genetic susceptibility to T1D. Fine mapping and functional studies are gradually revealing the complex mechanisms whereby immune self-tolerance is lost, involving multiple aspects of adaptive immunity. The triggering of these events by dysregulation of the innate immune system has also been implicated by genetic evidence. Finally, genetic prediction of T1D risk is showing promise of use for preventive strategies.

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