RGD Reference Report - Genetic analysis of adult-onset autoimmune diabetes. - Rat Genome Database

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Genetic analysis of adult-onset autoimmune diabetes.

Authors: Howson, JM  Rosinger, S  Smyth, DJ  Boehm, BO  Todd, JA  Todd, John A 
Citation: Howson JM, etal., Diabetes. 2011 Oct;60(10):2645-53. Epub 2011 Aug 26.
RGD ID: 6484692
Pubmed: PMID:21873553   (View Abstract at PubMed)
PMCID: PMC3178303   (View Article at PubMed Central)
DOI: DOI:10.2337/db11-0364   (Journal Full-text)

OBJECTIVE: In contrast with childhood-onset type 1 diabetes, the genetics of autoimmune diabetes in adults are not well understood. We have therefore investigated the genetics of diabetes diagnosed in adults positive for autoantibodies. RESEARCH DESIGN AND METHODS: GAD autoantibodies (GADAs), insulinoma-associated antigen-2 antibodies (IA-2As), and islet cell autoantibodies were measured at time of diagnosis. Autoantibody-positive diabetic subjects (n = 1,384) and population-based control subjects (n = 2,235) were genotyped at 20 childhood-onset type 1 diabetes loci and FCRL3, GAD2, TCF7L2, and FTO. RESULTS: PTPN22 (1p13.2), STAT4 (2q32.2), CTLA4 (2q33.2), HLA (6p21), IL2RA (10p15.1), INS (11p15.5), ERBB3 (12q13.2), SH2B3 (12q24.12), and CLEC16A (16p13.13) were convincingly associated with autoimmune diabetes in adults (P

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
type 1 diabetes mellitus onsetIAGP 6484692 RGD 
type 1 diabetes mellitus onsetISOPTPN22 (Homo sapiens)6484692; 6484692 RGD 
type 1 diabetes mellitus susceptibilityIAGP 6484692DNA:SNP: : (rs3184504) (human)RGD 
type 1 diabetes mellitus susceptibilityISOSH2B3 (Homo sapiens)6484692; 6484692DNA:SNP: : (rs3184504) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Adult onset susceptibilityIAGP 6484692DNA:SNP: : (rs3184504)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Ptpn22  (protein tyrosine phosphatase, non-receptor type 22)
Sh2b3  (SH2B adaptor protein 3)

Genes (Mus musculus)
Ptpn22  (protein tyrosine phosphatase, non-receptor type 22 (lymphoid))
Sh2b3  (SH2B adaptor protein 3)

Genes (Homo sapiens)
PTPN22  (protein tyrosine phosphatase non-receptor type 22)
SH2B3  (SH2B adaptor protein 3)


Additional Information