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.
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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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