Arteriosclerosis, Thrombosis, and Vascular Biology. 2003;23:1322-1332
Published online before print May 22, 2003, doi: 10.1161/01.ATV.0000078520.89539.77
Published online before print May 22, 2003, doi: 10.1161/01.ATV.0000078520.89539.77
© 2003 American Heart Association, Inc.
Brief Reviews |
Efflux and Atherosclerosis
The Clinical and Biochemical Impact of Variations in the ABCA1 Gene
From the Centre for Molecular Medicine and Therapeutics, University of British Columbia, and Children’s and Women’s Hospital (R.R.S., L.R.B., H.V., M.R.H.), Vancouver, British Columbia, Canada; and Department of Vascular Medicine (J.J., P.K.), Academic Medicine Centre, Amsterdam, The Netherlands.
Correspondence to Dr Michael R. Hayden, Centre for Molecular Medicine and Therapeutics, 950 West 28th Ave, Vancouver, BC, V5Z 4H4, Canada. E-mail mrh{at}cmmt.ubc.ca
Series Editor: Alan R. Tall
ATVB In Focus
Role of ABCA1 in Cellular Cholesterol Efflux and Reverse Cholesterol Transport
Previous Brief Reviews in this Series:
•Yancy PG, Bortnick AE, Kellner-Weibel G, de la Llera-Moya M, Phillips MC, Rothblat GH. Importance of different pathways of cellular cholesterol efflux. 2003;23:712–719.
•Oram JF. HDL Apolipoproteins and ABCA1: partner in the removal of excess cellular cholesterol. 2003;23:720–727.
•Joyce C, Freeman L, Brewer HB Jr, Sanatamarina-Fojo S. Study of ABCA1 function in transgenic mice. 2003;23:965–971.
•Aiello RJ, Brees D, Francone OL. ABCA1-deficient mice: insights into the role of monocyte lipid efflux in HDL formation and inflammation. 2003;23:972–980.
•Lund EG, Menke JG, Sparrow CP. Liver X receptor agonists as potential therapeutic agents for dyslipidemia and atherosclerosis. 2003;23:1169–1177.
•Wang N, Tall AR. Regulation and mechanisms of ATP-binding cassette transporter A1-mediated cellular cholesterol efflux. 2003;23:1178–1184.
Approximately 50 mutations and many single nucleotide polymorphisms have been described in the ABCA1 gene, with mutations leading to Tangier disease and familial hypoalphalipoproteinemia. Homozygotes and heterozygotes for mutations in ABCA1 display a wide range of phenotypes. Identification of ABCA1 as the molecular defect in these diseases has allowed for ascertainment based on genetic status and determination of genotype-phenotype correlations and has permitted us to identify mutations conferring a range of severity of cellular, biochemical, and clinical phenotypes. In this study we review how genetic variation at the ABCA1 locus affects its role in the maintenance of lipid homeostasis and the natural progression of atherosclerosis.
Key Words: ABCA1 • genetics • efflux • atherosclerosis • HDL
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