RGD Reference Report - Interaction analysis of the CBLB and CTLA4 genes in type 1 diabetes. - Rat Genome Database

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Interaction analysis of the CBLB and CTLA4 genes in type 1 diabetes.

Authors: Payne, F  Cooper, JD  Walker, NM  Lam, AC  Smink, LJ  Nutland, S  Stevens, HE  Hutchings, J  Todd, JA 
Citation: Payne F, etal., J Leukoc Biol. 2007 Mar;81(3):581-3. Epub 2007 Jan 5.
RGD ID: 2314039
Pubmed: PMID:17209142   (View Abstract at PubMed)
DOI: DOI:10.1189/jlb.0906577   (Journal Full-text)

Gene-gene interaction analyses have been suggested as a potential strategy to help identify common disease susceptibility genes. Recently, evidence of a statistical interaction between polymorphisms in two negative immunoregulatory genes, CBLB and CTLA4, has been reported in type 1 diabetes (T1D). This study, in 480 Danish families, reported an association between T1D and a synonymous coding SNP in exon 12 of the CBLB gene (rs3772534 G>A; minor allele frequency, MAF=0.24; derived relative risk, RR for G allele=1.78; P=0.046). Furthermore, evidence of a statistical interaction with the known T1D susceptibility-associated CTLA4 polymorphism rs3087243 (laboratory name CT60, G>A) was reported (P<0.0001), such that the CBLB SNP rs3772534 G allele was overtransmitted to offspring with the CTLA4 rs3087243 G/G genotype. We have, therefore, attempted to obtain additional support for this finding in both large family and case-control collections. In a primary analysis, no evidence for an association of the CBLB SNP rs3772534 with disease was found in either sample set (2162 parent-child trios, P=0.33; 3453 cases and 3655 controls, P=0.69). In the case-only statistical interaction analysis between rs3772534 and rs3087243, there was also no support for an effect (1994 T1D affected offspring, and 3215 cases, P=0.92). These data highlight the need for large, well-characterized populations, offering the possibility of obtaining additional support for initial observations owing to the low prior probability of identifying reproducible evidence of gene-gene interactions in the analysis of common disease-associated variants in human populations.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
type 1 diabetes mellitus no_associationIAGP 2314039DNA:SNP:exon:rs3772534 (human)RGD 
type 1 diabetes mellitus no_associationISOCBLB (Homo sapiens)2314039; 2314039DNA:SNP:exon:rs3772534 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cblb  (Cbl proto-oncogene B)

Genes (Mus musculus)
Cblb  (Casitas B-lineage lymphoma b)

Genes (Homo sapiens)
CBLB  (Cbl proto-oncogene B)


Additional Information