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Cited by 389Lipoproteins and Cardiovascular HealthLipid metabolism and disordersGenetic Associations and Epidemiology

The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.

Apolipoprotein E polymorphism in health and disease

Utermann, Gerd·1987·American Heart Journal
DOI 10.1016/0002-8703(87)90610-7
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Abstract

Genetic polymorphism of apolipoprotein (apo) E is controlled by three common (epsilon 2, epsilon 2, epsilon 4) and several rare alleles (e.g., epsilon 1, epsilon 4*, epsilon 4v) at the apo E structural gene locus and may be demonstrated by isoelectric focusing of delipidated sera followed by immunoblotting. Apo E allele frequencies vary significantly between different ethnic groups. The common apo E isoforms E2 (arg158----cys) and E4 (cys112----arg) differ functionally from the parent E3 isoform, explaining their effects on the normal variance of plasma lipoprotein concentrations and their association with hyperlipidemic conditions. In all studied populations the receptor-binding defective apo E2 (arg158----cys) is associated with low cholesterol and apo B in heterozygotes and results in primary dysbetalipoproteinemia or type III hyperlipoproteinemia in homozygotes. Conversely, the epsilon 4 allele is associated with high cholesterol in Finns and Germans but less or not significantly so in Japanese or Singapore populations. In addition to their effects on the normal variance of lipoprotein concentrations, the alleles epsilon 2 and epsilon 4 are associated with hypertriglyceridemia and hypercholesterolemia, respectively. A working hypothesis explaining these observations is presented.

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Crossref · 10.1016/0002-8703(87)90610-7

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Citations

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Research works printed but not linked: 2

  1. Gregg, 1982, Abnormal metabolism of apolipoprotein E4, Circulation, 66, 160
  2. Ghiselli, 1981, Type III hyperlipoproteinemia associated with apolipoprotein E deficiency, Science, 214, 1239, 10.1126/science.6795720 · DOI · Paper page

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Metadata

Authors
Utermann, G.
Affiliations
Universität Innsbruck (AT)
Corresponding author
Utermann, Gerd
Venue
American Heart Journal
Publisher
Elsevier BV
Published
1987-02
Volume
113
Issue
2
Pages
433-440
ISSN
0002-8703 (ISSN-L)
DOI
10.1016/0002-8703(87)90610-7
OpenAlex
W2000991693
Cited by
389
References
24
Citations by year
2026: 1 · 2025: 1 · 2024: 3 · 2023: 4 · 2022: 2 · 2021: 4 · 2020: 4 · 2019: 2 · 2018: 4 · 2017: 1 · 2016: 3 · 2015: 2 · 2014: 12 · 2013: 4 · 2012: 3
FWCI
22.81
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • American Heart Journal (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipoproteins and Cardiovascular Health
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
apolipoprotein E, genetic polymorphism, apolipoprotein E2, APOE ε4, apolipoprotein E3, allele frequency, ethnic differences, hypertriglyceridemia, hypercholesterolemia, type III hyperlipoproteinemia, serum lipoproteins
MeSH terms
Alleles, Apolipoproteins E, Ethnicity, Gene Frequency, Humans, Hyperlipoproteinemia Type III, Polymorphism, Genetic

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