RGD Reference Report - Low-density lipoprotein receptor-related protein 8 gene polymorphisms and dementia. - Rat Genome Database

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Low-density lipoprotein receptor-related protein 8 gene polymorphisms and dementia.

Authors: Helbecque, N  Cottel, D  Amouyel, P 
Citation: Helbecque N, etal., Neurobiol Aging. 2009 Feb;30(2):266-71. Epub 2007 Jul 5.
RGD ID: 6483063
Pubmed: PMID:17614163   (View Abstract at PubMed)
DOI: DOI:10.1016/j.neurobiolaging.2007.05.024   (Journal Full-text)

The sole known genetic risk factor for sporadic Alzheimer's disease (AD) is the gene encoding apolipoprotein E (APOE), but the underlying mechanism is still under debate. One hypothesis relies on an interaction between APOE and its receptors. Previous studies have shown association of LDL receptor-related protein (LRP1) with AD and we previously reported a modulation by LRP1 of the risk of AD conferred by the -499A>G promoter polymorphism of the MAPK8IP1, a gene encoding Islet-brain-1 (IB1), the human counterpart of c-Jun NH(2) terminal kinase interacting protein-1 (JIP-1). Here we tested in two independent population samples a possible impact of another receptor for APOE, namely the low-density lipoprotein receptor-related protein 8 (LRP8), on the risk of dementia. Our results did not reveal any direct impact of a LRP8 coding (Arg952Gln) mutation on the risk of AD. However, this polymorphism increased the risk of AD conferred by the MAPK8IP1 G allele.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
dementia  IAGP 6483063DNA:mutation: :p.R952Q (human)RGD 
dementia  ISOLRP8 (Homo sapiens)6483063; 6483063DNA:mutation: :p.R952Q (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Lrp8  (LDL receptor related protein 8)

Genes (Mus musculus)
Lrp8  (low density lipoprotein receptor-related protein 8, apolipoprotein e receptor)

Genes (Homo sapiens)
LRP8  (LDL receptor related protein 8)


Additional Information