Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease
Author(s) -
Nathan O. Stitziel,
HongHee Won,
Alanna C. Morrison,
Gina M. Peloso,
Ron Do,
Leslie A. Lange,
Pierre Fontanillas,
Namrata Gupta,
Stefano Duga,
Anuj Goel,
Martin Farrall,
Danish Saleheen,
Paola G. Ferrario,
Inke R. König,
Rosanna Asselta,
Piera Angelica Merlini,
Nicola Marziliano,
Maria Francesca Notarangelo,
Ursula M. Schick,
Paul L. Auer,
Themistocles L. Assimes,
Muredach P. Reilly,
Robert Wilensky,
Daniel J. Rader,
G. Kees Hovingh,
Thomas Meitinger,
Thorsten Kessler,
Adnan Kastrati,
KarlLudwig Laugwitz,
David S. Siscovick,
Jerome I. Rotter,
Stanely L Hazen,
Russell P. Tracy,
Sharon Cresci,
John A. Spertus,
Rebecca D. Jackson,
Stephen M. Schwartz,
Pradeep Natarajan,
Jacy R. Crosby,
Donna M. Muzny,
Christie M. Ballantyne,
Stephen S. Rich,
Christopher J. O’Donnell,
Gonçalo R. Abecasis,
Shamil Sunaev,
Deborah A. Nickerson,
Julie E. Buring,
Paul M. Ridker,
Daniel I. Chasman,
Erin Austin,
Iftikhar Kullo,
Peter Weeke,
Christian M. Shaffer,
Lisa A. Bastarache,
Joshua C. Denny,
Dan M. Roden,
Nicholette D. Palmer,
Panos Deloukas,
D. Y. Lin,
Zheng-Zheng Tang,
Jeanette Erdmann,
Heribert Schunkert,
John Danesh,
Jaume Marrugat,
Roberto Elosúa,
Diego Ardissino,
Ruth McPherson,
Hugh Watkins,
Alex P. Reiner,
James G. Wilson,
David Altshuler,
Richard A. Gibbs,
Eric S. Lander,
Eric Boerwinkle,
Stacey Gabriel,
Sekar Kathiresan
Publication year - 2014
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa1405386
Subject(s) - ezetimibe , medicine , nonsense mutation , frameshift mutation , coronary artery disease , odds ratio , point mutation , endocrinology , exon , cholesterol , mutation , genetics , gene , missense mutation , biology
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 drug.
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