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Genes 2013, 4(3), 499-521; doi:10.3390/genes4030499

Genes Involved in Type 1 Diabetes: An Update

1 Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA 2 Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA Those authors contributed equally to this work.
* Author to whom correspondence should be addressed.
Received: 31 July 2013 / Revised: 26 August 2013 / Accepted: 5 September 2013 / Published: 16 September 2013
(This article belongs to the Special Issue Genetics of Diabetes)
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Type 1 Diabetes (T1D) is a chronic multifactorial disease with a strong genetic component, which, through interactions with specific environmental factors, triggers disease onset. T1D typically manifests in early to mid childhood through the autoimmune destruction of pancreatic β cells resulting in a lack of insulin production. Historically, prior to genome-wide association studies (GWAS), six loci in the genome were fully established to be associated with T1D. With the advent of high-throughput single nucleotide polymorphism (SNP) genotyping array technologies, enabling investigators to perform high-density GWAS, many additional T1D susceptibility genes have been discovered. Indeed, recent meta-analyses of multiple datasets from independent investigators have brought the tally of well-validated T1D disease genes to almost 60. In this mini-review, we address recent advances in the genetics of T1D and provide an update on the latest susceptibility loci added to the list of genes involved in the pathogenesis of T1D.
Keywords: Type 1 Diabetes (T1D); genome-wide association studies (GWAS); immune system; susceptibility loci; natural killer (NK) cells; pancreatic β-cells Type 1 Diabetes (T1D); genome-wide association studies (GWAS); immune system; susceptibility loci; natural killer (NK) cells; pancreatic β-cells
This is an open access article distributed under the Creative Commons Attribution License (CC BY) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Bakay, M.; Pandey, R.; Hakonarson, H. Genes Involved in Type 1 Diabetes: An Update. Genes 2013, 4, 499-521.

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