Article
Reduced Function of the Adaptor SH2B3 Promotes T1D via Altered Cytokine-Regulated, T-Cell-Intrinsic Immune Tolerance.
Diabetes - 1 Jun 2025
Watson Taylor K, Rosen Aaron B I, Drow Travis, Medjo Jacob A, MacQuivey Matthew A, Ge Yan, Liggitt H Denny, Grosvenor Dane A, Dill-McFarland Kimberly A, Altman Matthew C, Concannon Patrick J, Buckner Jane H, Rawlings David J, Allenspach Eric J
Abstract excerpt
Genome-wide association studies have identified SH2B3 as an important non-MHC gene for islet autoimmunity and type 1 diabetes (T1D). In this study, we found a single SH2B3 haplotype significantly associated with increased risk for human T1D. Fine mapping has demonstrated the most credible causative variant is the single nucleotide rs3184504*T polymorphism in SH2B3. To better characterize the role of SH2B3 in T1D,...
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