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Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease.
Zanoni P, Khetarpal SA, Larach DB, Hancock-Cerutti WF, Millar JS, Cuchel M, DerOhannessian S, Kontush A, Surendran P, Saleheen D, Trompet S, Jukema JW, De Craen A, Deloukas P, Sattar N, Ford I, Packard C, Majumder Aa, Alam DS, Di Angelantonio E, Abecasis G, Chowdhury R, Erdmann J, Nordestgaard BG, Nielsen SF, Tybjærg-Hansen A, Schmidt RF, Kuulasmaa K, Liu DJ, Perola M, Blankenberg S, Salomaa V, Männistö S, Amouyel P, Arveiler D, Ferrieres J, Müller-Nurasyid M, Ferrario M, Kee F, Willer CJ, Samani N, Schunkert H, Butterworth AS, Howson JM, Peloso GM, Stitziel NO, Danesh J, Kathiresan S, Rader DJ; CHD Exome+ Consortium; CARDIoGRAM Exome Consortium; Global Lipids Genetics Consortium. Zanoni P, et al. Science. 2016 Mar 11;351(6278):1166-71. doi: 10.1126/science.aad3517. Science. 2016. PMID: 26965621 Free PMC article.
Scavenger receptor BI (SR-BI) is the major receptor for high-density lipoprotein (HDL) cholesterol (HDL-C). In humans, high amounts of HDL-C in plasma are associated with a lower risk of coronary hear
Scavenger receptor BI (SR-BI) is the major receptor for high-density lipoprotein (HDL) choleste
Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.
Helgadottir A, Sulem P, Thorgeirsson G, Gretarsdottir S, Thorleifsson G, Jensson BÖ, Arnadottir GA, Olafsson I, Eyjolfsson GI, Sigurdardottir O, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K. Helgadottir A, et al. Eur Heart J. 2018 Jun 14;39(23):2172-2178. doi: 10.1093/eurheartj/ehy169. Eur Heart J. 2018. PMID: 29596577 Free PMC article.
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, …
AIMS: Scavenger receptor Class B Type 1 (SR-BI) is a major receptor for high-density lipoprotein (HDL) th …