Apolipoprotein E in hyperlipidemia

Ann Intern Med. 1994 Jun 15;120(12):1026-36. doi: 10.7326/0003-4819-120-12-199406150-00009.


Purpose: To review DNA analysis of apolipoprotein E used to assess patients with hyperlipidemia.

Data sources and study selection: 44 basic science studies of molecular analysis; 42 basic science studies of the biochemical, cellular biological, and molecular biological features of apolipoprotein E; and 29 clinical investigational studies, meta-analyses, and case series of patients with mutations in apolipoprotein E.

Data extraction: Methods of DNA analysis were reviewed, using specific examples in human disease, and the role of apolipoprotein E in normal and disordered lipoprotein metabolism was reviewed. Genetic analysis of apolipoprotein E in populations and particularly in persons with type III hyperlipoproteinemia is reviewed.

Data synthesis: In the general population, common DNA variants of apolipoprotein E are consistently associated with modest differences in plasma lipids and lipoproteins. Homozygosity for the E2 isoform of apolipoprotein E predisposes some patients to the development of type III hyperlipoproteinemia, a condition that involves an additional genetic or environmental factor for full clinical expression. Rare mutations of apolipoprotein E also cause hyperlipidemia.

Conclusions: DNA variation of apolipoprotein E is one of several genetic and environmental factors that interact in a complex manner to affect plasma lipoproteins. DNA analysis of apolipoprotein E can be used in persons with hyperlipidemia to identify those with type III hyperlipoproteinemia and in relatives of affected persons to identify those who are predisposed.

Publication types

  • Review

MeSH terms

  • Apolipoproteins E / genetics*
  • Base Sequence
  • Genetic Techniques
  • Genotype
  • Humans
  • Hyperlipoproteinemia Type III / blood*
  • Hyperlipoproteinemia Type III / genetics
  • Molecular Sequence Data


  • Apolipoproteins E