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Genes (Basel). 2013 Sep 16;4(3):499-521. doi: 10.3390/genes4030499.

Genes involved in type 1 diabetes: an update.

Author information

1
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. bakay@email.chop.edu.
2
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. pandeyr@email.chop.edu.
3
Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. hakonarson@email.chop.edu.

Abstract

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.

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