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Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels

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Author: Knijff, P. de · Maagdenberg, A.M.J.M. van den · Frants, R.R. · Havekes, L.M.
Institution: TNO Preventie en Gezondheid
Source:Human Mutation, 3, 4, 178-194
Identifier: 232698
doi: doi:/10.1002/humu.1380040303
Keywords: Biology · Apolipoprotein (apo) E · Atherosclerosis · Familial Dysbetalipoproteinemia (FD) · Mutations · Polymorphisms · Type III Hyperlipoproteinemia · Cholesterol · Chylomicron · Low density lipoprotein receptor · Triacylglycerol · Very low density lipoprotein · Alzheimer disease · Atherosclerosis · Cholesterol blood level · Coronary artery disease · Creutzfeldt jakob disease · Gene mutation · Genetic heterogeneity · Genetic linkage · Genetic polymorphism · Ligand binding · Lipoprotein metabolism · Alleles · Amino Acid Sequence · Base Sequence · DNA · Female · Gene Frequency · Human · Hyperlipidemia · Hyperlipoproteinemia Type III · Lipids · Lipoproteins · Male · Molecular Sequence Data · Mutation · Variation (Genetics)


Apolipoprotein E (apoE) is one of the major protein constituents of chylomicron and very-low-density lipoprotein (VLDL) remnants and plays a central role as a ligand in the receptor-mediated uptake of these particles by the liver. Including the most common variant, apoE3, 30 apoE variants have been characterized. At present, 14 apoE variants have been found to be associated with familial dysbetalipoproteinemia, a genetic lipid disorder characterized by elevated plasma cholesterol and triglyceride levels and an increased risk for atherosclerosis. Seven apoE variants were found to be associated with other forms of hyperlipoproteinemia. This report presents an overview of all currently known apoE variants and their effects on lipoprotein metabolism. Chemicals/CAS: Apolipoproteins E; DNA, 9007-49-2; Lipids; Lipoproteins