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Apolipoprotein E polymorphism in health and disease.

American Heart Journal

|February 1, 1987

Summary

Apolipoprotein E (apoE) genetic variations influence cholesterol levels and lipid disorders. ApoE2 is linked to lower cholesterol and type III hyperlipoproteinemia, while ApoE4 is associated with higher cholesterol in some populations.

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Area of Science:

Genetics
Biochemistry
Molecular Biology

Background:

Apolipoprotein E (apoE) exhibits genetic polymorphism with common alleles (epsilon 2, epsilon 3, epsilon 4) and rare variants.
Allele frequencies of apoE vary significantly across different ethnic groups.
Functional differences between apoE isoforms (E2, E3, E4) impact plasma lipoprotein concentrations and hyperlipidemic conditions.

Purpose of the Study:

To investigate the association between apoE genetic polymorphism and variations in plasma lipoprotein concentrations.
To explore the differential effects of apoE alleles on lipid profiles and hyperlipidemic conditions across diverse populations.

Main Methods:

Isoelectric focusing of delipidated sera followed by immunoblotting to demonstrate apoE isoforms.
Analysis of apoE allele frequencies in different ethnic groups.
Correlation of specific apoE alleles with plasma lipid levels (cholesterol, apoB, triglycerides).

Main Results:

The apoE2 isoform (arg158-cys) is associated with low cholesterol and apoB in heterozygotes, and causes type III hyperlipoproteinemia in homozygotes.
The apoE4 allele is linked to elevated cholesterol in certain populations (Finns, Germans) but shows weaker associations in others (Japanese, Singaporeans).
Both apoE2 and apoE4 alleles are associated with hypertriglyceridemia and hypercholesterolemia, respectively.

Conclusions:

Apolipoprotein E genotype is a significant determinant of plasma lipoprotein levels and lipid disorders.
Ethnic variations in apoE allele frequencies contribute to population-specific differences in lipid metabolism and disease prevalence.
The functional distinctions of apoE isoforms provide a basis for understanding their roles in hyperlipidemia.

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