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- W2004596543 abstract "Epidemiologically, plasma concentrations of high-density lipoprotein (HDL) cholesterol associate inversely with risk of ischemic heart disease (IHD) [ [1] The Emerging Risk Factors Collaboration Major lipids, apolipoproteins, and risk of vascular disease. JAMA. 2009; 302: 1993-2000 Crossref PubMed Scopus (1875) Google Scholar ]. One important determinant of HDL cholesterol levels in plasma is the ATP-Binding-Cassette transporter A1 (ABCA1) molecule which mediates transfer of intracellular cholesterol across the cell membrane to lipid poor acceptor apolipoproteins in plasma [ [2] Tall A.R. Breslow J.L. Rubin E.M. Genetic disorders affecting plasma high-density lipoproteins. in: Scriver C.R. Beaudet A.L. Valle D. Sly W.S. The metabolic and molecular bases of inherited disease. 8th ed. McGraw-Hill, New York2001: 2915-2936 Google Scholar ]. Homozygozity for loss-of-function mutations in ABCA1 causes one form of Mendelian HDL-deficiency, Tangier disease [ [2] Tall A.R. Breslow J.L. Rubin E.M. Genetic disorders affecting plasma high-density lipoproteins. in: Scriver C.R. Beaudet A.L. Valle D. Sly W.S. The metabolic and molecular bases of inherited disease. 8th ed. McGraw-Hill, New York2001: 2915-2936 Google Scholar ], and heterozygosity is present with a frequency of 3:1000 and associates with decreased levels of HDL cholesterol in the general population [ [3] Frikke-Schmidt R. Nordestgaard B.G. Stene M.C.A. et al. Association of loss-of-function mutations in the ABCA1 gene with high-density lipoprotein cholesterol levels and risk of ischemic heart disease. JAMA. 2008; 299: 2524-2532 Crossref PubMed Scopus (380) Google Scholar ]." @default.
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- W2004596543 date "2011-10-01" @default.
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- W2004596543 title "Genetic variation in ABCA1 and risk of cardiovascular disease" @default.
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- W2004596543 doi "https://doi.org/10.1016/j.atherosclerosis.2011.04.010" @default.
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