RGD Reference Report - Risk of autoimmune diabetes in APECED: association with short alleles of the 5'insulin VNTR. - Rat Genome Database

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Risk of autoimmune diabetes in APECED: association with short alleles of the 5'insulin VNTR.

Authors: Paquette, J  Varin, D S E  Hamelin, C E  Hallgren, A  Kämpe, O  Carel, J-C  Perheentupa, J  Deal, C L 
Citation: Paquette J, etal., Genes Immun. 2010 Oct;11(7):590-7. doi: 10.1038/gene.2010.33. Epub 2010 Jun 10.
RGD ID: 150340608
Pubmed: PMID:20535137   (View Abstract at PubMed)
DOI: DOI:10.1038/gene.2010.33   (Journal Full-text)

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autoimmune disease causing a wide spectrum of autoimmune dysfunction potentially including diabetes of an autoimmune etiology. We have previously described a pair of discordant APECED siblings and pointed to a possible role of 5'insulin variable number of tandem repeats (VNTR) locus IDDM2 in the appearance of diabetes within this disease. In vitro studies have previously suggested that class I VNTR alleles were associated with decreased fetal thymic insulin expression. We genotyped the 5'INS VNTR locus and several flanking 11p15.5 markers in 50 Finnish APECED subjects and explored the possible contribution of IDDM2 in the development of diabetes. The shorter 5'INS VNTR class I alleles (<35 repeats) were more prevalent in the diabetic Finnish APECED subjects than in non-diabetic APECED subjects. Logistic regression analysis revealed that having 1 short (<35) VNTR allele did not increase the risk of developing diabetes (95% CI 0.6-27.0), whereas having 2 short alleles conferred a 43.5-fold increased risk (95% CI 3.0-634.6). We conclude that short 5'INS VNTR class I alleles play a role in susceptibility to autoimmune diabetes in the context of APECED.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
type 1 diabetes mellitus susceptibilityIAGP 150340608associated autoimmune polyendocrine syndrome and DNA:repeat:promoter (human)RGD 
type 1 diabetes mellitus susceptibilityISOINS (Homo sapiens)150340608; 150340608associated autoimmune polyendocrine syndrome and DNA:repeat:promoter (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Type I diabetes mellitus susceptibilityIAGP 150340608associated autoimmune polyendocrine syndrome and DNA:repeat:promoter (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Ins2  (insulin 2)

Genes (Mus musculus)
Ins2  (insulin II)

Genes (Homo sapiens)
INS  (insulin)


Additional Information