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Apolipoprotein E phenotypes and hyperlipidemia.

G Utermann, I Kindermann, H Kaffarnik

    Human Genetics
    |January 1, 1984
    PubMed
    Summary
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    Apolipoprotein E (ApoE) E2 and E4 isoforms are more common in hyperlipidemia patients, particularly heterozygotes. These ApoE variants influence lipid levels and disease susceptibility.

    Area of Science:

    • Genetics
    • Metabolic Disorders
    • Biochemistry

    Background:

    • Apolipoprotein E (ApoE) plays a crucial role in lipid metabolism.
    • Different ApoE isoforms (E2, E3, E4) are associated with varying lipid profiles.
    • The link between ApoE phenotypes and hyperlipidemia requires further elucidation.

    Purpose of the Study:

    • To investigate the association between Apolipoprotein E phenotypes and hyperlipidemia.
    • To determine the frequency of ApoE isoforms in hyperlipidemic patients compared to controls.
    • To explore the differential impact of ApoE isoforms across hyperlipidemia subtypes.

    Main Methods:

    • Determined Apolipoprotein E phenotypes in 361 hyperlipidemic patients and controls.
    • Analyzed ApoE isoform frequencies within the hyperlipidemic cohort.

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  • Subgrouped hyperlipidemic patients into hypertriglyceridemia, hypercholesterolemia, and mixed hyperlipidemia.

    • Main Results:

    • The E2 isoform was significantly more frequent in hyperlipidemic patients (P < 0.0005), primarily due to heterozygotes.
    • E2 was more prevalent in hypertriglyceridemia (0.001 > P > 0.005).
    • E4 was more frequent in hypercholesterolemia (0.01 > P > 0.005) and mixed hyperlipidemia (0.05 > P > 0.025).
    • Rare phenotypes (E-4/4, -4/2, -2/2) occurred in ~20% of mixed hyperlipidemia patients.

    Conclusions:

    • Both epsilon 2 and epsilon 4 alleles contribute to hyperlipidemia susceptibility and expression.
    • The epsilon 2 allele's effect may involve reduced ApoE binding activity.
    • The mechanism for epsilon 4's association with hyperlipidemia remains unclear.