Cristina C. Walden, MD; Robert A. Hegele, MD
To review DNA analysis of apolipoprotein E used to assess patients with hyperlipidemia.
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.
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.
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.
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.
Walden CC, Hegele RA. Apolipoprotein E in Hyperlipidemia. Ann Intern Med. 1994;120:1026–1036. doi: 10.7326/0003-4819-120-12-199406150-00009
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Published: Ann Intern Med. 1994;120(12):1026-1036.
Cardiology, Coronary Risk Factors, Dyslipidemia.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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