RGD Reference Report - Candidate gene association study of insulin signaling genes and Alzheimer's disease: evidence for SOS2, PCK1, and PPARgamma as susceptibility loci. - Rat Genome Database

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Candidate gene association study of insulin signaling genes and Alzheimer's disease: evidence for SOS2, PCK1, and PPARgamma as susceptibility loci.

Authors: Hamilton, G  Proitsi, P  Jehu, L  Morgan, A  Williams, J  O'Donovan, MC  Owen, MJ  Powell, JF  Lovestone, S 
Citation: Hamilton G, etal., Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):508-16.
RGD ID: 2311642
Pubmed: PMID:17440948   (View Abstract at PubMed)
DOI: DOI:10.1002/ajmg.b.30503   (Journal Full-text)

Epidemiological evidence supports the existence of a possible link between type II diabetes mellitus (T2DM) and late-onset Alzheimer's disease (LOAD). Polymorphisms from candidate genes for T2DM were genotyped in a two-stage approach to identify novel risk factors for LOAD. One hundred fifty-two polymorphisms were initially genotyped in a case:control cohort: nine SNPs showed individual association with disease status under at least one genetic model, while an additional two SNPs showed a haplotype association. In a replication study, we confirmed significant association of SNPs within three genes--PPARgamma, SOS2, and PCK1--with Alzheimer's disease. In particular, our data suggest that the effect of variants within these genes might be influenced by gender.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ADRB3HumanAlzheimer's disease  IAGP DNA:missense mutation:cds:p.W64R (human)RGD 
Adrb3RatAlzheimer's disease  ISOADRB3 (Homo sapiens)DNA:missense mutation:cds:p.W64R (human)RGD 
Adrb3MouseAlzheimer's disease  ISOADRB3 (Homo sapiens)DNA:missense mutation:cds:p.W64R (human)RGD 
PCK1HumanAlzheimer's disease  IAGP DNA:SNPsRGD 
PPARGHumanAlzheimer's disease susceptibilityIAGP DNA:SNP:cds:p.P12A(human)RGD 
Pck1RatAlzheimer's disease  ISOPCK1 (Homo sapiens)DNA:SNPsRGD 
Pck1MouseAlzheimer's disease  ISOPCK1 (Homo sapiens)DNA:SNPsRGD 
PpargRatAlzheimer's disease susceptibilityISOPPARG (Homo sapiens)DNA:SNP:cds:p.P12A(human)RGD 
PpargMouseAlzheimer's disease susceptibilityISOPPARG (Homo sapiens)DNA:SNP:cds:p.P12A(human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ADRB3HumanDementia  IAGP DNA:missense mutation:cds:p.W64R RGD 
Objects Annotated

Genes (Rattus norvegicus)
Adrb3  (adrenoceptor beta 3)
Pck1  (phosphoenolpyruvate carboxykinase 1)
Pparg  (peroxisome proliferator-activated receptor gamma)

Genes (Mus musculus)
Adrb3  (adrenergic receptor, beta 3)
Pck1  (phosphoenolpyruvate carboxykinase 1, cytosolic)
Pparg  (peroxisome proliferator activated receptor gamma)

Genes (Homo sapiens)
ADRB3  (adrenoceptor beta 3)
PCK1  (phosphoenolpyruvate carboxykinase 1)
PPARG  (peroxisome proliferator activated receptor gamma)


Additional Information