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 hype