Title
Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels
Author
de Knijff, P.
van den Maagdenberg, A.M.J.M.
Frants, R.R.
Havekes, L.M.
TNO Preventie en Gezondheid
Publication year
1994
Abstract
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
Subject
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)
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DOI
https://doi.org/10.1002/humu.1380040303
TNO identifier
232698
ISSN
1059-7794
Source
Human Mutation, 4 (3), 178-194
Document type
article