Variations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis.

TitleVariations on a gene: rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis.
Publication TypeJournal Article
Year of Publication2006
AuthorsBrunham, LR, Singaraja, RR, Hayden, MR
JournalAnnu Rev Nutr
Volume26
Pagination105-29
Date Published2006
ISSN0199-9885
KeywordsAtherosclerosis, ATP Binding Cassette Transporter 1, ATP-Binding Cassette Transporters, Cholesterol, Cholesterol, HDL, Genetic Variation, Humans, Hypolipoproteinemias, Mutation
Abstract

Cholesterol and its metabolites play a variety of essential roles in living systems. Virtually all animal cells require cholesterol, which they acquire through synthesis or uptake, but only the liver can degrade cholesterol. The ABCA1 gene product regulates the rate-controlling step in the removal of cellular cholesterol: the efflux of cellular cholesterol and phospholipids to an apolipoprotein acceptor. Mutations in ABCA1, as seen in Tangier disease, result in accumulation of cellular cholesterol, reduced plasma high-density lipoprotein cholesterol, and increased risk for coronary artery disease. To date, more than 100 coding variants have been identified in ABCA1, and these variants result in a broad spectrum of biochemical and clinical phenotypes. Here we review genetic variation in ABCA1 and its critical role in cholesterol metabolism and atherosclerosis in the general population.

DOI10.1146/annurev.nutr.26.061505.111214
Alternate JournalAnnu. Rev. Nutr.
PubMed ID16704350