Article
Inactivating mutations in NPC1L1 and protection from coronary heart disease.
The New England journal of medicine - 27 Nov 2014
Stitziel Nathan O, Won Hong-Hee, Morrison Alanna C, Peloso Gina M, Do Ron, Lange Leslie A, Fontanillas Pierre, Gupta Namrata, Duga Stefano, Goel Anuj, Farrall Martin, Saleheen Danish, Ferrario Paola, König Inke, Asselta Rosanna, Merlini Piera A, Marziliano Nicola, Notarangelo Maria Francesca, Schick Ursula, Auer Paul, Assimes Themistocles L, Reilly Muredach, Wilensky Robert, Rader Daniel J, Hovingh G Kees, Meitinger Thomas, Kessler Thorsten, Kastrati Adnan, Laugwitz Karl-Ludwig, Siscovick David, Rotter Jerome I, Hazen Stanely L, Tracy Russell, Cresci Sharon, Spertus John, Jackson Rebecca, Schwartz Stephen M, Natarajan Pradeep, Crosby Jacy, Muzny Donna, Ballantyne Christie, Rich Stephen S, O'Donnell Christopher J, Abecasis Goncalo, Sunaev Shamil, Nickerson Deborah A, Buring Julie E, Ridker Paul M, Chasman Daniel I, Austin Erin, Kullo Iftikhar J, Weeke Peter E, Shaffer Christian M, Bastarache Lisa A, Denny Joshua C, Roden Dan M, Palmer Colin, Deloukas Panos, Lin Dan-Yu, Tang Zheng-zheng, Erdmann Jeanette, Schunkert Heribert, Danesh John, Marrugat Jaume, Elosua Roberto, Ardissino Diego, McPherson Ruth, Watkins Hugh, Reiner Alex P, Wilson James G, Altshuler David, Gibbs Richard A, Lander Eric S, Boerwinkle Eric, Gabriel Stacey, Kathiresan Sekar
Abstract excerpt
BACKGROUND: Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition reduces the risk of coronary heart disease is not known. Human mutations that inactivate a gene encoding a drug target can mimic the action of an inhibitory drug and thus can be used to infer potential effects of that...
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