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Review
. 2004 Nov;114(9):1244-7.
doi: 10.1172/JCI23466.

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

Päivi Pajukanta  1
Affiliations
Review

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

Päivi Pajukanta. J Clin Invest. 2004 Nov.

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.

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Figures

Figure 1
Figure 1
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.
Figure 2
Figure 2
The strategy used by Frikke-Schmidt and colleagues (19) to investigate whether DNA sequence variants in the ABCA1 gene contribute to plasma HDL-C levels in the general population. Any variant that causes a premature stop-codon in synthesis of protein is called a nonsense variant.
See this image and copyright information in PMC

Comment on

References

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