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Cited by 150Lipoproteins and Cardiovascular HealthLipid metabolism and disordersCholesterol and Lipid Metabolism

The role of apolipoprotein E genetic variants in lipoprotein disorders.

RALL, S. C., MAHLEY, R. W.·1992·Journal of Internal Medicine
DOI 10.1111/j.1365-2796.1992.tb01254.x
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Abstract

Abstract. Apolipoprotein E plays a central role in lipoprotein metabolism by serving as a ligand for the binding of lipoproteins to lipoprotein receptors. Both common and rare variants of apoE have been described. The common variants apoE2 and apoE4 have a significant impact on interindividual variation of lipid and lipoprotein levels in normal subjects. The common variant apoE2 and more than half a dozen rare variants are defective in binding to the low‐density lipoprotein (LDL) receptor, and all are causally associated with the lipid disorder type III hyperlipoproteinaemia (HLP). The mode of inheritance of the disorder can be either dominant or recessive, depending on the particular mutation(s) in apoE, although the mechanisms involved are not fully understood. The common variant apoE4 and other rare variants have been reported to be associated with a variety of other lipoprotein disorders, but a causal link has not been established.

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Crossref · 10.1111/j.1365-2796.1992.tb01254.x

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13 of 13 references verified0 citation errors · 0 not checkable

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  • LDL-receptor binding defects for these apoE variants do not correlate well with the severity of dyslipidemia, indicating that the variants may carry additional properties contributing to pathogenic potential.

    “However, the LDL-receptor binding defects for these apoE variants do not correlate well with the severity of dyslipidemia, indicating that these variants may carry additional properties that contribute to their pathogenic potential.”

    From Biophysical Analysis of Apolipoprotein E3 Variants Linked with Development of Type III Hyperlipoproteinemia (2011) · cites this paper as [37]

  • Mutations in apoE that diminish binding of apoE-containing lipoproteins to the LDL receptor are associated with high plasma cholesterol levels and cause premature atherosclerosis in humans and experimental animals.

    “In vivo and in vitro studies have shown that mutations in apoE that diminish binding of apoE-containing lipoproteins to the LDL receptor are associated with high plasma cholesterol levels and cause premature atherosclerosis in humans and experimental animals ( 1-3, 7, 8 ).”

    From Molecular etiology of a dominant form of type III hyperlipoproteinemia caused by R142C substitution in apoE4 (2011) · cites this paper as [8]

  • A variety of rare mutations in the 136-147 region of apoE are associated with a dominant mode of inheritance of type III HLP that is expressed at an early age.

    “A variety of rare mutations in the 136-147 region of apoE are associated with a dominant mode of inheritance of type III HLP that is expressed at an early age ( 7,8,12,13 ).”

    From Molecular etiology of a dominant form of type III hyperlipoproteinemia caused by R142C substitution in apoE4 (2011) · cites this paper as [8]

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Authors
RALL, S. C., & MAHLEY, R. W.
Affiliations
University of California, San Francisco (US)
Corresponding author
RALL, S. C.
ORCID
MAHLEY, R. W.
Venue
Journal of Internal Medicine
Publisher
Wiley
Published
1992-06
Volume
231
Issue
6
Pages
653-659
ISSN
  • 0954-6820 (ISSN-L)
  • 1365-2796
DOI
10.1111/j.1365-2796.1992.tb01254.x
OpenAlex
W2162786843
Cited by
150
References
13
Citations by year
2025: 2 · 2024: 1 · 2021: 2 · 2020: 1 · 2019: 2 · 2018: 2 · 2016: 2 · 2015: 3 · 2014: 5 · 2013: 4 · 2012: 4
FWCI
3.16
Type
journal article
Language
en
Open access
closed
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor, 6273 d)
Locations
  • Journal of Internal Medicine (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
  • Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
Keywords
apolipoprotein E, genetic variants, APOE2, APOE ε4, lipoprotein metabolism, LDL receptor binding, rare variants, lipid metabolism disorders, mode of inheritance
MeSH terms
Apolipoproteins E, Genes, Dominant, Genes, Recessive, Humans, Hyperlipidemias, Hyperlipoproteinemia Type III, Mutation, Polymorphism, Genetic, Genetic Variation

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