The role of apolipoprotein E genetic variants in lipoprotein disorders

The role of apolipoprotein E genetic variants in lipoprotein disorders Abstract. 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Internal Medicine Wiley

The role of apolipoprotein E genetic variants in lipoprotein disorders

Journal of Internal Medicine, Volume 231 (6) – Jun 1, 1992

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Publisher
Wiley
Copyright
1992 Blackwell Publishing Ltd
ISSN
0954-6820
eISSN
1365-2796
D.O.I.
10.1111/j.1365-2796.1992.tb01254.x
Publisher site
See Article on Publisher Site

Abstract

Abstract. 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.

Journal

Journal of Internal MedicineWiley

Published: Jun 1, 1992

References

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