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Curr Diab Rep. 2009 Apr;9(2):157-63.

Genome-wide association studies in type 1 diabetes.

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  • 1Center for Applied Genomics, 1216E Abramson Research Center, 3615 Civic Center Boulevard, Philadelphia, PA 19104-4318, USA.


Type 1 diabetes (T1D) is a chronic disease that typically manifests itself in childhood through the autoimmune destruction of pancreatic beta cells, resulting in a lack of production of insulin. T1D is a multifactorial disease with a strong genetic component that is thought to interact with specific environmental triggers. Several genetic determinants of T1D were already established before the era of genome-wide association studies, primarily with the HLA class II genes, encoding highly polymorphic antigen-presenting proteins that account for almost 50% of the genetic risk for T1D. The recent development of high-throughput single nucleotide polymorphism genotyping array technologies has enabled investigators to perform high-density genome-wide association studies in search of the remaining T1D loci. Combined with the well-established genes known for many years, 16 loci have now been uncovered to date as being robustly associated with the pathogenesis of this phenotype.

[PubMed - indexed for MEDLINE]
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