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Investigating genotype–phenotype influences on the development of type 1 diabetes
Author(s) -
Peakman Mark
Publication year - 2011
Publication title -
journal of medical virology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.782
H-Index - 121
eISSN - 1096-9071
pISSN - 0146-6615
DOI - 10.1002/jmv.22064
Subject(s) - biology , phenotype , autoimmunity , immune system , gene , genotype , genetics , type 2 diabetes , disease , diabetes mellitus , immunology , medicine , pathology , endocrinology
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 identify immunological phenotypes influenced by type 1 diabetes‐associated polymorphic gene variants. J. Med. Virol. 83:1671–1671, 2011. © 2011 Wiley‐Liss, Inc.