Do DNA sequence variants in ABCA1 contribute to HDL cholesterol levels in the general population?
Päivi Pajukanta
Päivi Pajukanta
Published November 1, 2004
Citation Information: J Clin Invest. 2004;114(9):1244-1247. https://doi.org/10.1172/JCI23466.
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Commentary

Do DNA sequence variants in ABCA1 contribute to HDL cholesterol levels in the general population?

Abstract

HDL has a key role in reverse cholesterol transport, mobilizing cholesterol from the peripheral tissues to liver. In this process, the ABC transporter A1 (ABCA1) protein controls the efflux of intracellular cholesterol to apoAI, the major apolipoprotein of HDL. Since ABCA1 mutations were discovered to cause Tangier disease, a rare recessive HDL deficiency, it has been speculated that sequence variants in ABCA1 might also contribute to variations in plasma HDL cholesterol levels in the general population. A new study provides genetic evidence supporting this hypothesis.

Authors

Päivi Pajukanta

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Figure 1

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A schematic overview of the role of the ABCA1 protein in HDL metabolism ...
A schematic overview of the role of the ABCA1 protein in HDL metabolism and RCT. In RCT, excess free cholesterol (FC) is removed from peripheral tissues and returned to the liver for excretion in the bile. The ABCA1 protein is crucial for the initial steps of this process, since it controls the efflux of intracellular cholesterol to lipid-poor apoAI, which is the major apolipoprotein of HDL. The other key molecules in RCT include LCAT and scavenger receptor class-B, type I (SR-BI). CE, cholesteryl ester.