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Human apolipoprotein E isoprotein subclasses are genetically determined

V I Zannis, P W Just, J L Breslow

    American Journal of Human Genetics
    |January 1, 1981
    PubMed
    Summary
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    Genetic variations in human apolipoprotein E (Apo E) are determined by three common alleles, leading to distinct Apo E subclasses. The beta IV subclass is linked to type III hyperlipoproteinemia, a condition associated with atherosclerosis.

    Area of Science:

    • Genetics
    • Biochemistry
    • Molecular Biology

    Background:

    • Human very low density lipoprotein (VLDL) apolipoprotein E (Apo E) exhibits variable patterns in electrophoretic analysis, classified as class alpha and class beta.
    • Further analysis identified subclasses within these classes: alpha II, alpha III, alpha IV, and beta II, beta III, beta IV.

    Purpose of the Study:

    • To investigate the genetic basis of Apo E subclasses.
    • To determine the inheritance patterns and population frequencies of Apo E alleles.
    • To explore the association between Apo E subclasses and plasma lipid disorders.

    Main Methods:

    • Family studies were conducted to analyze the inheritance of Apo E subclasses.
    • Two-dimensional gel electrophoresis was used to identify Apo E patterns.

    Related Experiment Videos

  • Population frequency analysis of Apo E alleles was performed using data from unrelated volunteers.
  • Apo E subclasses were studied in patients with plasma lipid disorders.

    • Main Results:

    • Apo E subclasses are determined by a single genetic locus with three common alleles: epsilon II, epsilon III, and epsilon IV.
    • Phenotypes represent either homozygosity (beta classes) or heterozygosity (alpha classes) for these alleles.
    • Gene frequencies in the general population were calculated as epsilon II (11%), epsilon III (72%), and epsilon IV (17%).
    • The beta IV subclass was significantly associated with type III hyperlipoproteinemia.

    Conclusions:

    • The study elucidates the genetic control of common variations in human Apo E.
    • The identified genetic basis provides insight into the inheritance of Apo E.
    • The association of the beta IV subclass with type III hyperlipoproteinemia highlights its clinical relevance in understanding this lipid disorder and associated atherosclerosis.