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Genome-wide association studies in type 1 diabetes

Abstract

Type 1 diabetes (T1D) is a chronic disease that typically manifests itself in childhood through the autoimmune destruction of pancreatic β 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 genomewide 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.

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Correspondence to Hakon Hakonarson.

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Grant, S.F., Hakonarson, H. Genome-wide association studies in type 1 diabetes. Curr Diab Rep 9, 157–163 (2009). https://doi.org/10.1007/s11892-009-0026-5

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  • DOI: https://doi.org/10.1007/s11892-009-0026-5

Keywords

  • Wellcome Trust Case Control Consortium
  • Genomewide Association Study
  • International Multiple Sclerosis Genetic Consortium
  • Lymphoid Tyrosine Phosphatase
  • Variable Number Tandem Repeat Allele