RGD Reference Report - Plasma levels of apolipoprotein E and genetic markers in elderly patients with Alzheimer's disease. - Rat Genome Database

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Plasma levels of apolipoprotein E and genetic markers in elderly patients with Alzheimer's disease.

Authors: Scacchi, R  Gambina, G  Ruggeri, M  Martini, MC  Ferrari, G  Silvestri, M  Schiavon, R  Corbo, RM 
Citation: Scacchi R, etal., Neurosci Lett. 1999 Jan 4;259(1):33-6.
RGD ID: 6903233
Pubmed: PMID:10027549   (View Abstract at PubMed)

Besides apolipoprotein E (APOE) polymorphism, whose association with Alzheimer's disease (AD) has been confirmed in most of the numerous population samples studied, other markers have been investigated. In most cases the association firstly described was not confirmed in subsequent works. Since it is important to examine these associations in as many populations as possible, we investigated APOE, APOC1, APOC2, alpha-1 antichymotrypsin (ACT) and presenilin-1 (PS-1) polymorphisms in a series of elderly patients with late-onset sporadic AD from Northern Italy and in a sex and age-matched control group. We could not confirm the significantly higher frequency of the ACT*A allele among carriers of APOE e*4 allele described elsewhere, although a similar trend was observed. The APOC2 and the PS-1 distributions were similar between patients and controls. However, we observed a significant difference in the genotype and allele frequencies of APOE and APOC1: patients had higher e*4 and C1*2 allele frequencies. This finding confirms the important role for APOE in AD occurrence. In addition, APOC1 seems to be an interesting marker because, though in strict linkage disequilibrium with APOE, it seems to play an independent role in AD risk. In contrast to previously reported data, plasma apoE concentrations were similar in patients and in controls. An interaction between APOE and APOC1 polymorphisms and apoE levels was observed in patients: subjects carrying the APOE E3/E2 or the APOC1 2-2 genotype have higher apoE concentrations than those who do not.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Alzheimer's disease susceptibilityIAGP 6903233DNA:missense mutations more ...RGD 
Alzheimer's disease susceptibilityISOAPOE (Homo sapiens)6903233; 6903233DNA:missense mutations more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Dementia  IAGP 6903233DNA:missense mutations more ...RGD 
Dementia susceptibilityIAGP 6903233DNA:missense mutations and haplotype:cds:p.C112R (rs7412) RGD 
Objects Annotated

Genes (Rattus norvegicus)
Apoe  (apolipoprotein E)

Genes (Mus musculus)
Apoe  (apolipoprotein E)

Genes (Homo sapiens)
APOE  (apolipoprotein E)


Additional Information