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Investigating Genotype–phenotype Influences on the Development of Type 1 Diabetes by Mark Peakman is a Medicine article available to read on EtoBox.

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## Abstract The identification of genes associated with type 1 diabetes has provided important clues to the nature of the pathogenesis of the disease. Currently, this information is encapsulated in several putative mechanisms through which islet autoimmunity might arise and become converted into a malignant autoimmune disease leading to diabetes. One of these mechanisms involves the immune response to viruses, including the human enteroviruses. The link between polymorphisms, splice variants, and deletions, in the interferon induced with helicase C domain 1 gene IFIH1 (which acts as a viral sensing gene), and diabetes has reinforced the “aberrant immune response to virus” pathway for the development of diabetes [Nejentev et al., 2009]. In order to understand how such pathways might operate in type 1 diabetes, we have taken the approach of selecting subjects with polarized genotypes (homozygous susceptibility vs. homozygous protection) for type 1 diabetes‐associated SNPs and examining the immunological phenotypes associated with these variants. These studies indicate that with a careful design of assays that examine effects highly proximal to the genes of interest, it is possible to

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Author

Mark Peakman

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0146-6615)

Published

2011

Language

EN

Field

Medicine (Health Sciences)