title: Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene.
abstract: 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.
authors.affiliation: Centre for Molecular Medicine and Therapeutics, University of British Columbia, and Children's and Women's Hospital , Vancouver, BC, Canada. mrh@cmmt.ubc.ca
authors.forename: Roshni R
authors.initials: RR
authors.lastname: Singaraja
authors.forename: Liam R
authors.initials: LR
authors.lastname: Brunham
authors.forename: Henk
authors.initials: H
authors.lastname: Visscher
authors.forename: John J P
authors.initials: JJ
authors.lastname: Kastelein
authors.forename: Michael R
authors.initials: MR
authors.lastname: Hayden
mesh_terms: D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000145:classification / Q000378:metabolism*; D000255:Adenosine Triphosphate / Q000378:metabolism; D008076:Cholesterol, HDL / Q000378:metabolism; D003324:Coronary Artery Disease / Q000235:genetics*; D018450:Disease Progression; D006579:Heterozygote; D006801:Humans; D050356:Lipid Metabolism; D009154:Mutation; D020641:Polymorphism, Single Nucleotide
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D008076:Cholesterol, HDL; D000255:Adenosine Triphosphate