The role of apolipoprotein E genetic variants in lipoprotein disorders.
Apolipoprotein E plays a central role in lipoprotein metabolism by serving as a ligand for the binding of lipoproteins to lipoprotein receptors. Both common and rare variants of apoE have been described. The common variants apoE2 and apoE4 have a significant impact on interindividual variation of lipid and lipoprotein levels in normal subjects. The common variant apoE2 and more than half a dozen rare variants are defective in binding to the low-density lipoprotein (LDL) receptor, and all are causally associated with the lipid disorder type III hyperlipoproteinaemia (HLP). The mode of inheritance of the disorder can be either dominant or recessive, depending on the particular mutation(s) in apoE, although the mechanisms involved are not fully understood. The common variant apoE4 and other rare variants have been reported to be associated with a variety of other lipoprotein disorders, but a causal link has not been established.
Rall
S C
SC
Gladstone Institute of Cardiovascular Disease, University of California, San Francisco.
Mahley
R W
RW
D001057:Apolipoproteins E / Q000235:genetics*; D005799:Genes, Dominant; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D006949:Hyperlipidemias / Q000235:genetics; D006952:Hyperlipoproteinemia Type III / Q000235:genetics*; D009154:Mutation; D011110:Polymorphism, Genetic
D001057:Apolipoproteins E