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Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease

The New England journal of medicine, 2014-11, Vol.371 (22), p.2072-2082 [Peer Reviewed Journal]

Copyright © 2014 Massachusetts Medical Society. All rights reserved. ;Copyright © 2014 Massachusetts Medical Society 2014 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1405386 ;PMID: 25390462

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Title:
Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease
Author: 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
Subjects: Adult ; Analysis ; Asians - genetics ; Blacks - genetics ; Blood plasma ; Cardiovascular disease ; Case-Control Studies ; Cholesterol ; Cholesterol, LDL ; Cholesterol, LDL - blood ; Control ; Coronary artery disease ; Coronary Disease - genetics ; Coronary heart disease ; Exons ; Female ; Frameshift mutation ; Gene Silencing ; Genes ; Genotype ; Health risk assessment ; Heart diseases ; Humans ; Low density lipoprotein ; Male ; Membrane Proteins - chemistry ; Membrane Proteins - genetics ; Membrane Proteins - metabolism ; Membrane Transport Proteins ; Middle Aged ; Mutation ; Mutation (Biology) ; Plasma levels ; Protein Conformation ; Proteins ; Risk ; Risk factors ; Sequence Analysis, DNA ; Triglycerides - blood ; Whites - genetics
Is Part Of: The New England journal of medicine, 2014-11, Vol.371 (22), p.2072-2082
Description: Inactivating mutations in NPC1L1 were identified on exon sequencing and genotyping in 16 cohorts of patients with coronary heart disease and controls. Mutation carriers had lower LDL cholesterol levels and a lower risk of coronary heart disease than did noncarriers. Ezetimibe, a drug that is commonly prescribed to reduce plasma levels of low-density lipoprotein (LDL) cholesterol, inhibits the function of the protein encoded by the Niemann–Pick C1-like 1 gene ( NPC1L1 ). 1 NPC1L1 protein, which is expressed in the small intestine and liver, functions as a transporter of dietary cholesterol from the gut lumen into intestinal enterocytes. 2 , 3 Because of its ability to block sterol absorption by about 50%, 4 ezetimibe lowers plasma LDL cholesterol levels by 15 to 20%. 5 However, it is uncertain whether inhibiting NPC1L1 — either through ezetimibe treatment or by other means — reduces the risk of . . .
Publisher: United States: Massachusetts Medical Society
Language: English
Identifier: ISSN: 0028-4793
EISSN: 1533-4406
DOI: 10.1056/NEJMoa1405386
PMID: 25390462
Source: ProQuest One Psychology
MEDLINE
Alma/SFX Local Collection
ProQuest Central

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Inactivating Mutations in NPC1L1 and Protection from Coronary Heart Disease

Copyright © 2014 Massachusetts Medical Society. All rights reserved. ;Copyright © 2014 Massachusetts Medical Society 2014 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1405386 ;PMID: 25390462

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