Epidemiological, clinical, and neuropathological study of apolipoprotein E genotype in Alzheimer's disease

Ann N Y Acad Sci. 1996 Dec 16;802:1-5. doi: 10.1111/j.1749-6632.1996.tb32592.x.


Our studies of the APOE genotype in AD confirm a strong association of the epsilon 4 allele with development of AD and a decreased risk associated with epsilon 2. From a clinical/neuropathological perspective, the major effects of APOE epsilon 4 are to lower the age of onset and to increase the amount of A beta deposit in the brain. Neither rate of progression nor number of neurofibrillary tangles were affected. We also carried out a longitudinal population-based assessment of the APOE genotype to determine the risk for developing cognitive impairment of someone in the general population based on APOE genotype. APOE epsilon 4 carried about 1.4-fold increased risk, and APOE epsilon 2 about 1.7-fold decreased risk. Thus, inheritance of APOE epsilon 4 is a major biological risk factor for AD, but it has limited utility as a prognostic indicator for development of dementia in an individual.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Age of Onset
  • Aged
  • Alzheimer Disease / diagnosis
  • Alzheimer Disease / genetics*
  • Alzheimer Disease / pathology
  • Apolipoprotein E4
  • Apolipoproteins E / genetics*
  • Brain / pathology
  • Genotype
  • Humans
  • Iowa
  • Longitudinal Studies
  • Massachusetts
  • Prognosis
  • Risk Factors


  • Apolipoprotein E4
  • Apolipoproteins E