Article
Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.
European heart journal - 14 Jun 2018
Helgadottir Anna, Sulem Patrick, Thorgeirsson Gudmundur, Gretarsdottir Solveig, Thorleifsson Gudmar, Jensson Brynjar Ö, Arnadottir Gudny A, Olafsson Isleifur, Eyjolfsson Gudmundur I, Sigurdardottir Olof, Thorsteinsdottir Unnur, Gudbjartsson Daniel F, Holm Hilma, Stefansson Kari
Abstract excerpt
Aims: Scavenger receptor Class B Type 1 (SR-BI) is a major receptor for high-density lipoprotein (HDL) that promotes hepatic uptake of cholesterol from HDL. A rare mutation p.P376L, in the gene encoding SR-BI, SCARB1, was recently reported to associate with elevated HDL cholesterol (HDL-C) and increased risk of coronary artery disease (CAD), suggesting that increased HDL-C caused by SR-BI impairment might be an...
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