RGD Reference Report - Promoter haplotypes of interleukin-10 gene and sporadic Alzheimer's disease. - Rat Genome Database

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Promoter haplotypes of interleukin-10 gene and sporadic Alzheimer's disease.

Authors: Scassellati, C  Zanardini, R  Squitti, R  Bocchio-Chiavetto, L  Bonvicini, C  Binetti, G  Zanetti, O  Cassetta, E  Gennarelli, M 
Citation: Scassellati C, etal., Neurosci Lett 2004 Feb 12;356(2):119-22.
RGD ID: 1358665
Pubmed: PMID:14746878   (View Abstract at PubMed)

Clinical and immunopathological evidence support a potential role of the pro- and anti-inflammatory cytokine network in neurodegeneration of Alzheimer's disease (AD). Moreover, association studies suggest a possible involvement of cytokine-related genes in the susceptibility to sporadic AD. Since conflicting results are associated with the pro-inflammatory pathway, we investigated a putative effect of the anti-inflammatory counterpart focusing on the interleukin-10 (IL-10) gene. The 5' flanking region contains numerous polymorphisms; in particular, three single nucleotide polymorphisms (-1082 G/A, -819 T/C, -592 C/A) are in linkage disequilibrium resulting in three haplotypes GCC, ACC and ATA. We analyzed the IL-10 haplotype distributions in 215 Italian sporadic AD patients and 153 controls in an association case-control study. Haplotype frequencies did not reveal differences between the two samples, however the genotype GCC/ACC was more represented in AD patients (OR 1.91, 95% CI: 1.18-3.07). This putative risk factor could be independent of the presence of the ApoE epsilon 4 allele. Our results provide new insights on a possible involvement of the IL-10 gene in susceptibility to sporadic AD even though further functional and genetic investigations are necessary to clarify its role in AD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Alzheimer's disease susceptibilityIAGP 1358665DNA:SNPs more ...RGD 
Alzheimer's disease susceptibilityISOIL10 (Homo sapiens)1358665; 1358665DNA:SNPs more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Neurodegeneration  IAGP 1358665DNA:SNPs more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Il10  (interleukin 10)

Genes (Mus musculus)
Il10  (interleukin 10)

Genes (Homo sapiens)
IL10  (interleukin 10)


Additional Information