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Genetic variation in human apolipoprotein E

M R Wardell, P A Suckling, E D Janus

    Journal of Lipid Research
    |November 1, 1982
    PubMed
    Summary
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    Genetic variation in human apoprotein E (apoE) was analyzed. The apoE epsilon 2 allele is linked to lower plasma cholesterol levels, particularly in individuals homozygous for this allele.

    Area of Science:

    • Human genetics
    • Biochemistry
    • Lipid metabolism

    Background:

    • Apolipoprotein E (apoE) is crucial for lipid transport and metabolism.
    • Genetic variations in apoE are associated with various health conditions, including hyperlipoproteinemia.
    • Understanding apoE allele frequencies and their impact is vital for personalized medicine.

    Purpose of the Study:

    • To investigate the genetic variation of human apoprotein E in a population.
    • To determine the frequencies of different apoE phenotypes and alleles.
    • To assess the association between apoE genotype and plasma cholesterol levels.

    Main Methods:

    • Isoelectric focusing was used to analyze delipidated very low density lipoprotein from 426 blood donors and 7 patients with type III hyperlipoproteinemia.

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  • Phenotype frequencies were calculated for the donor population.
  • Allele frequencies were determined based on family studies and population data.

    • Main Results:

    • Six apoE phenotypes were identified, with E3/3 being the most common (51.4%) in blood donors.
    • All 7 patients with type III hyperlipoproteinemia exhibited the E2/2 phenotype.
    • The apoE epsilon 2 allele was associated with significantly lower plasma cholesterol levels in both heterozygous and homozygous individuals.

    Conclusions:

    • The study identified distinct apoE phenotypes and allele frequencies in the studied population.
    • The apoE epsilon 2 allele is a significant determinant of lower plasma cholesterol.
    • These findings contribute to understanding the genetic basis of lipid disorders and apoE's role in cholesterol metabolism.