Type 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes

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dc.contributor.authorLuckett, Amber M.
dc.contributor.authorHawkes, Gareth
dc.contributor.authorGreen, Harry D.
dc.contributor.authorDe Franco, Elisa
dc.contributor.authorHagopian, William A.
dc.contributor.authorRoep, Bart O.
dc.contributor.authorWeedon, Michael N.
dc.contributor.authorOram, Richard A.
dc.contributor.authorJohnson, Matthew B.
dc.contributor.authorEXE-T1D consortium
dc.contributor.departmentPediatrics, School of Medicine
dc.date.accessioned2025-02-25T16:21:22Z
dc.date.available2025-02-25T16:21:22Z
dc.date.issued2025
dc.description.abstractThere is variability in early-onset autoimmune diabetes presentation in individuals with monogenic autoimmunity; the mechanism(s) underlying this is unclear. We examined whether type 1 diabetes (T1D) polygenic risk contributes to clinical phenotype in monogenic autoimmune diabetes. Individuals with monogenic autoimmune diabetes had higher T1D genetic risk scores compared with control cohorts, driven largely by increased presence of T1D-risk DR3-DQ2 haplotype. Established T1D polygenic risk alleles, particularly class II HLA genes, contribute to clinical presentation in monogenic autoimmunity.
dc.eprint.versionFinal published version
dc.identifier.citationLuckett AM, Hawkes G, Green HD, et al. Type 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes. Diabetes. 2025;74(2):243-248. doi:10.2337/db24-0485
dc.identifier.urihttps://hdl.handle.net/1805/46026
dc.language.isoen_US
dc.publisherAmerican Diabetes Association
dc.relation.isversionof10.2337/db24-0485
dc.relation.journalDiabetes
dc.rightsPublisher Policy
dc.sourcePMC
dc.subjectType 1 diabetes mellitus
dc.subjectGenetic predisposition to disease
dc.subjectHaplotypes
dc.subjectPhenotype
dc.titleType 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes
dc.typeArticle
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