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Symbol APOE contributors: mct/pgu - updated : 17-05-2017
HGNC name apolipoprotein E
HGNC id 613
corresponding disease(s) APOE , ARMDS2 , SBHD , AD2
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
APOE4-carriers with dementia of the Alzheimers' type, and memory decline and olfaction, compared to non-carriers, display a cortical atrophy pattern that is more focused on mediodisplay a cortical atrophy pattern that is more focused on mediotemporal lobe regions supporting olfactory and episodic memory functions
constitutional     --low  
depletion of endogenous APOE in adipocytes severely impairs lipid accumulation, which is associated with an inability to initiate differentiation (pMID: 26201081)
  • putative susceptibility factor (epsilon 4 allele) for agressive multiple sclerosis
  • susceptibility factor (epsilon 2/3/4 allele) for dementia (in old age)
  • susceptibility for AMD (age related macular dystrophy) (e2/e2 allele increased risk)
  • suceptibility (epsilon 2 allele) to frontotemporal dementia and to myocardial infarction
  • susceptibility to Alzheimer disease 2 (AD2)
  • to ischemic heart disease
  • to cerebral amyloid angiopathy and age-related cognitive decline during normal ageing
  • to Coronary Heart Disease (CHD)
  • Variant & Polymorphism SNP , other
  • (-219G) associated with increased optic nerve damage in primery open angle glaucoma
  • epsilon 2 allele by mother correlated with Smith-Lemli-Opitz severe form
  • ApoE4 mutation was associated with the increased risk of CHD, while ApoE2 allele had a decreased risk of CHD
  • combinations of SNPs in APOE and LPL identify subgroups of individuals at substantially increased risk of ischemic heart disease
  • APOE haplotypes common, found to be significantly associated with AMD, G-G-G-G-epsilon2, T-C-G-G-epsilon3 and T-G-A-G-epsilon4
  • risk estimate of developing AD for individuals with two copies of the apoE4 allele (&
  • 8764;2p100 of the population) is &
    8764;60p100 by the age of 85, and for those with one copy of the apoE4 allele (&
    8764;25p100 of the population) &
    8764;30p100, but the lifetime risk of AD for those with two copies of the apoE3 allele is &
    8764;10p100 by the age of 85
  • APOE4 allele is also associated with increased risk of cerebral amyloid angiopathy and age-related cognitive decline during normal ageing
  • Candidate gene
  • APOE genotyping may be helpful in diagnosing AD especially in patients presenting with atypical features or early age of onset of dementia
  • Therapy target
    pharmacological intervention with small molecules that disrupt apoE4 domain interaction is a potential therapeutic approach for apoE4-carrying AD subjects
  • apoE4 causes age- and Tau-dependent impairment of hilar GABAergic interneurons, leading to learning and memory deficits in mice (
  • young Apoe4 targeted replacement mice exhibit poor spatial learning and memory, with reduced dendritic spine density in the medial entorhinal cortex
  • hyper-neovascularization in the apoE4 mice might be driven by increased inflammation and the associated surge in Vegfa following injury
  • APOE4 reduces evoked hippocampal acetylcholine release in adult mice