RGD Reference Report - The insulin-like growth factor-II receptor gene is associated with type 1 diabetes: evidence of a maternal effect. - Rat Genome Database

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The insulin-like growth factor-II receptor gene is associated with type 1 diabetes: evidence of a maternal effect.

Authors: McCann, JA  Xu, YQ  Frechette, R  Guazzarotti, L  Polychronakos, C 
Citation: McCann JA, etal., J Clin Endocrinol Metab. 2004 Nov;89(11):5700-6.
RGD ID: 2311611
Pubmed: PMID:15531531   (View Abstract at PubMed)
DOI: DOI:10.1210/jc.2004-0553   (Journal Full-text)

Susceptibility to type 1 diabetes (T1D) is a complex trait, involving several loci. One of these putative loci, insulin-dependent diabetes mellitus-8 (IDDM8) at 6q, has been found to be subject to parental effects, suggesting the involvement of an imprinted gene. IGF-II receptor (IGF2R), the best-studied imprinted gene in the IDDM8 region, encodes the IGF-2 receptor, a protein involved in many biological processes, including immune function and beta-cell regeneration. Mice express only the maternal allele. In humans, the molecular IGF2R imprint (maternal-specific methylation) is present, but it affects expression in only a small subset of individuals. To examine whether IGF2R might contribute to the IDDM8 effect, we examined transmission distortion at several single nucleotide polymorphisms (SNPs) in 404 parent-offspring trios. After correcting for multiple testing, significant distortion was found at only one silent SNP on exon 16 (P = 0.002). SNPs upstream and downstream showed weak linkage disequilibrium and no transmission distortion, localizing the association to a 53-kb block within IGF2R. Interestingly, the exon 16 SNP association was limited to maternally inherited alleles. SLC22A2 and SLC22A3, two genes downstream of IGF2R that are imprinted in the mouse, showed no T1D association. Thus, we present evidence that maternal alleles at an IGF2R polymorphism are associated with T1D. It is thus possible that at some tissue or developmental stage not yet examined, IGF2R is universally imprinted.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
IGF2RHumantype 1 diabetes mellitus  IAGP DNA:SNP (human)RGD 
Igf2rRattype 1 diabetes mellitus  ISOIGF2R (Homo sapiens)DNA:SNP (human)RGD 
Igf2rMousetype 1 diabetes mellitus  ISOIGF2R (Homo sapiens)DNA:SNP (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Igf2r  (insulin-like growth factor 2 receptor)

Genes (Mus musculus)
Igf2r  (insulin-like growth factor 2 receptor)

Genes (Homo sapiens)
IGF2R  (insulin like growth factor 2 receptor)


Additional Information