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Apolipoprotein E polymorphism and hyperlipidemia.

G Assmann, G Schmitz, H J Menzel

    Clinical Chemistry
    |May 1, 1984
    PubMed
    Summary
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    Apolipoprotein E (APOE) E2/2 and E4/4 phenotypes are linked to increased risk of hyperlipidemia. Investigating APOE polymorphism in mixed hyperlipidemia patients may reveal connections to atherosclerosis.

    Area of Science:

    • Genetics
    • Biochemistry
    • Cardiovascular Medicine

    Background:

    • Apolipoprotein E (APOE) plays a crucial role in lipid metabolism.
    • APOE exhibits genetic polymorphism with several phenotypes.
    • Understanding APOE phenotype distribution is important for lipid disorder research.

    Purpose of the Study:

    • To determine the frequencies of different apolipoprotein E phenotypes.
    • To investigate the association between APOE phenotypes and various forms of hyperlipidemia.
    • To explore potential links between APOE polymorphism, hyperlipidemia, and atherosclerosis.

    Main Methods:

    • Phenotyping of apolipoprotein E in a cohort of 1557 normolipidemic factory workers and 822 hyperlipidemic hospital patients.
    • Categorization of participants into normolipidemic, hypertriglyceridemic, hypercholesterolemic, and mixed hyperlipidemia groups.

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  • Statistical analysis of APOE phenotype frequencies across different lipid profiles.

    • Main Results:

    • The study identified six distinct apolipoprotein E phenotypes.
    • APOE E3/3 was the most common phenotype in normolipidemic individuals (62.2%).
    • APOE E2/2 homozygosity showed higher prevalence in hypertriglyceridemia (2.5%) and mixed hyperlipidemia (5.0%).
    • APOE E4/4 homozygosity was more frequent in hypercholesterolemia (5.0%) compared to normolipidemic individuals (2.2%).

    Conclusions:

    • Both APOE E2/2 and E4/4 homozygous phenotypes are associated with a predisposition to hyperlipidemia.
    • APOE E2/2 homozygosity may be linked to mixed hyperlipidemia and atherosclerosis.
    • Further investigation of APOE polymorphism in mixed hyperlipidemia patients is warranted.