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GENATLAS PHENOTYPE
last update : 17-05-2017
Symbol AD2
Location 19q13.32
HGNC id 182
Name Alzheimer disease associated with APOE4
Other name(s) Alzheimer disease 2, late onset familial
Corresponding gene APOE
Main clinical features
  • the association of one or two copies of the APOE allele e4 (i.e., genotypes e2/e4, e3/e4, e4/e4) with late onset AD is well documented, with genotype e4/e4 occuring in ~1 percent of the normal population and in ~19 percent of the familial AD population
  • the absence of an APO e4 allele does not rule out the diagnosis of AD
  • APOE e2 allele may have a protective effect
  • characterized by aberrant lipid metabolism and early mitochondrial dysfunction (PMID: 26564908))
  • Genetic determination
    Function/system disorder psychiatric disorder
    Type susceptibility factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other     common variant APOE4
    Remark(s)
  • iron chelation should be investigated as a therapeutic strategy for AD (PMID: 26890748))
  • APOE4-induced detrimental changes may be linked to pericyte migration/activation, astrocyte activation, smooth muscle cell damage, basement membrane degradation and alterations in brain endothelial cells (PMID: 26884068))