The IFIH1-A946T risk variant promotes diabetes in a sex-dependent manner.

ABSTRACT: Type 1 diabetes (T1D) is an autoimmune disease in which pancreatic islet β-cells are attacked by the immune system, resulting in insulin deficiency and hyperglycemia. One of the top non-synonymous single-nucleotide polymorphisms (SNP) associated with T1D is in the interferon-induced helicase C domain-containing protein 1 (IFIH1), which encodes an anti-viral cytosolic RNA sensor. This SNP results in an alanine to threonine substitution at amino acid 946 (IFIH1^A946T) and confers an increased risk for several autoimmune diseases, including T1D. We hypothesized that the IFIH1^A946T risk variant, (IFIH1^R) would promote T1D pathogenesis by stimulating type I interferon (IFN I) signaling leading to immune cell alterations. To test this,

SUBMITTER: Stock AJ 

PROVIDER: S-EPMC10937421 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature