RGD Reference Report - Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease. - Rat Genome Database

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Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease.

Authors: Li, Y  Hollingworth, P  Moore, P  Foy, C  Archer, N  Powell, J  Nowotny, P  Holmans, P  O'Donovan, M  Tacey, K  Doil, L  Van Luchene, R  Garcia, V  Rowland, C  Lau, K  Cantanese, J  Sninsky, J  Hardy, J  Thal, L  Morris, JC  Goate, A  Lovestone, S  Owen, M  Williams, J  Grupe, A 
Citation: Li Y, etal., Hum Mutat. 2005 Mar;25(3):270-7.
RGD ID: 9684954
Pubmed: PMID:15714520   (View Abstract at PubMed)
DOI: DOI:10.1002/humu.20138   (Journal Full-text)

Alzheimer disease (AD) is a complex neurodegenerative disorder predisposed by multiple genetic factors. Mutations in amyloid beta precursor protein (APP) are known to be associated with autosomal dominant, early onset familial AD and possibly also late onset AD (LOAD). A number of genes encoding proteins capable of binding to APP have been identified, but their contribution to AD pathobiology remains unclear. Conceivably, mutations in these genes may play a role in affecting AD susceptibility, which appears to be substantiated by some genetic studies. Here we report results of the first genetic association study with APBB2, an APP binding protein (also known as FE65L), and LOAD, in three independently collected case-control series totaling approximately 2,000 samples. Two SNPs were significantly associated with LOAD in two sample series and in meta-analyses of all three sample sets (for rs13133980: odds ratio [OR](hom)=1.36 [95% CI: 1.05-1.75], OR(het)=1.32 [95% CI: 1.04-1.67], minor allele frequency=43%, P=0.041; and for hCV1558625: OR(hom)=1.37 [95% CI: 1.06-1.77], OR(het)=1.02 [95% CI: 0.82-1.26], minor allele frequency=48%, P=0.026). One of these SNPs, located in a region conserved between the human and mouse genome, showed a significant interaction with age of disease onset. For this marker, the association with LOAD was most pronounced in subjects with disease onset before 75 years of age (OR(hom)=2.43 [95% CI: 1.61-3.67]; OR(het)=2.15 [95% CI: 1.46-3.17]; P=0.00006) in the combined sample set. Our data raise the possibility that genetic variations in APBB2 may affect LOAD susceptibility.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Alzheimer's disease onsetIAGP 9684954DNA:SNPs: :rs13133980 and rs17443013(human)RGD 
Alzheimer's disease onsetISOAPBB2 (Homo sapiens)9684954; 9684954DNA:SNPs: :rs13133980 and rs17443013(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Apbb2  (amyloid beta precursor protein binding family B member 2)

Genes (Mus musculus)
Apbb2  (amyloid beta precursor protein binding family B member 2)

Genes (Homo sapiens)
APBB2  (amyloid beta precursor protein binding family B member 2)


Additional Information