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Semin Immunol. 2009 Dec;21(6):355-62. doi: 10.1016/j.smim.2009.06.001. Epub 2009 Jul 1.

Genome-wide association studies in type 1 diabetes, inflammatory bowel disease and other immune-mediated disorders.

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The Center for Applied Genomics, The Abramson Research Center of the Joseph Stokes Jr. Research Institute, The Children's Hospital of Philadelphia, PA 19104-4318, USA.


Genome-wide association studies have delivered on the promise of uncovering genetic determinants of complex disease. In this review, we provide a summary of recent advances in the identification of multiple variants associated with autoimmune-mediated disorders; specifically type 1 diabetes and inflammatory bowel disease. Sixteen loci, all replicated in independent samples, have now been uncovered for type 1 diabetes and in excess of 40 for inflammatory bowel disease. The next steps are to identify the true causal variants underlying evidence of disease association and to leverage this information to improve diagnosis, prevention and cure of these diseases.

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