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REVIEW

Apolipoprotein E in Hyperlipidemia

Cristina C. Walden and Robert A. Hegele

15 June 1994 | Volume 120 Issue 12 | Pages 1026-1036

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.

Author and Article Information

From St. Michael's Hospital and the University of Toronto, Toronto, Ontario, Canada.
Requests for Reprints: Robert A. Hegele, MD, DNA Research Laboratory, St. Michael's Hospital, 30 Bond Street, Toronto, Ontario, Canada M5B 1W8.
Acknowledgments: The authors thank Dr. Philip W. Connelly and the staff of the Lipid and DNA Research Laboratories at St. Michael's Hospital for general academic support.
Grant Support: Dr. Hegele is a MacDonald Scholar of the Heart and Stroke Foundation of Canada. Dr. Walden is a Jeane B. Kempner Scholar of the University of Texas Medical Branch at Galveston.

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