APOE ε3 allele

E494101
APOE allele genetic variant single-nucleotide polymorphism haplotype

The APOE ε3 allele is the most common and generally considered the “neutral” variant of the apolipoprotein E gene, associated with average risk for Alzheimer’s disease and typical lipid metabolism compared to other APOE alleles.

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Statements (48)

Predicate Object
instanceOf APOE allele ⓘ
genetic variant ⓘ
single-nucleotide polymorphism haplotype ⓘ
associatedWithAgeRelatedCognitiveDeclineRelativeToAPOE ε4 reduced risk ⓘ
associatedWithAlzheimersDiseaseRiskRelativeToAPOE ε2 higher risk ⓘ
associatedWithAlzheimersDiseaseRiskRelativeToAPOE ε4 lower risk ⓘ
associatedWithCardiovascularRiskRelativeToAPOE ε4 lower risk ⓘ
associatedWithCerebralAmyloidAngiopathyRelativeToAPOE ε4 lower risk ⓘ
associatedWithFamilialDysbetalipoproteinemia not typically associated ⓘ
associatedWithHDLCholesterol typical levels ⓘ
associatedWithLDLCholesterol intermediate levels ⓘ
associatedWithLipidMetabolism typical lipid profile ⓘ
associatedWithLongevityRelativeToAPOE ε4 more favorable ⓘ
associatedWithTriglycerides typical levels ⓘ
belongsToHaplotypeGroup ε3 haplotype ⓘ
consideredClinicalEffectOnAlzheimersDisease neutral ⓘ
consideredRiskStatusForAlzheimersDisease average risk ⓘ
encodedBy APOE gene NERFINISHED ⓘ
expressedInCellType astrocytes ⓘ
hepatocytes ⓘ
microglia ⓘ
expressedInTissue brain ⓘ
liver ⓘ
hasAminoAcidAtPosition112 cysteine ⓘ
hasAminoAcidAtPosition158 arginine ⓘ
hasApproximateAfricanFrequency 0.6 ⓘ
hasApproximateEastAsianFrequency 0.85 ⓘ
hasApproximateEuropeanFrequency 0.78 ⓘ
hasApproximateGlobalFrequency 0.75 ⓘ
hasCommonCodingSNP rs429358 C allele ⓘ
rs7412 C allele ⓘ
hasGeneSymbol APOE NERFINISHED ⓘ
hasInheritancePattern autosomal codominant ⓘ
hasProteinLength 299 amino acids ⓘ
hasReferenceProteinID UniProt P02649 (E3 isoform) ⓘ
involvedInBiologicalProcess cholesterol transport ⓘ
lipid homeostasis ⓘ
lipoprotein particle remodeling ⓘ
isMostCommonAPOEAllele true ⓘ
locatedOnChromosome chromosome 19 ⓘ
locatedOnChromosomeRegion 19q13.32 ⓘ
producesProteinIsoform apolipoprotein E3 NERFINISHED ⓘ
proteinIsoformBindsReceptor LDL receptor NERFINISHED ⓘ
LRP1 NERFINISHED ⓘ
usedAsReferenceAlleleInResearch true ⓘ
zygosityGenotypeExample ε2/ε3 ⓘ
ε3/ε3 ⓘ
ε3/ε4 ⓘ

Referenced by (1)

Full triples — surface form annotated when it differs from this entity's canonical label.

APOE ε4 allele → differsFrom → APOE ε3 allele ⓘ