Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Ron Do, Nathan O. Stitziel, Hong-Hee Won, Anders Berg Jørgensen, Stefano Duga, Pier Angelica Merlini, Adam Kiezun, Martin Farrall, Anuj Goel, Or Zuk, Illaria Guella, Rosanna Asselta, Leslie A. Lange, Gina M. Peloso, Paul L. Auer, Domenico Girelli, Nicola Martinelli, Deborah N. Farlow, Mark A. DePristo, Robert Roberts, Alexander F. R. Stewart, Danish Saleheen, John Danesh, Stephen E. Epstein, Suthesh Sivapalaratnam, G. Kees Hovingh, John J. Kastelein, Nilesh J. Samani, Heribert Schunkert, Jeanette Erdmann, Svati H. Shah, William E. Kraus, Robert Davies, Majid Nikpay, Christopher T. Johansen, Jian Wang, Robert A. Hegele, Eliana Hechter, Winfried Marz, Marcus E. Kleber, Jie Huang, Andrew D. Johnson, Mingyao Li, Greg L. Burke, Myron Gross, Yongmei Liu, Themistocles L. Assimes, Gerardo Heiss, Ethan M. Lange, Aaron R. Folsom, Herman A. Taylor, Oliviero Olivieri, Anders Hamsten, Robert Clarke, Dermot F. Reilly, Wu Yin, Manuel A. Rivas, Peter Donnelly, Jacques E. Rossouw, Bruce M. Psaty, David M. Herrington, James G. Wilson, Stephen S. Rich, Michael J. Bamshad, Russell P. Tracy, L. Adrienne Cupples, Daniel J. Rader, Muredach P. Reilly, John A. Spertus, Sharon Cresci, Jaana Hartiala, W. H. Wilson Tang, Stanley L. Hazen, Hooman Allayee, Alex P. Reiner, Christopher S. Carlson, Charles Kooperberg, Rebecca D. Jackson, Eric Boerwinkle, Eric S. Lander, Stephen M. Schwartz, David S. Siscovick, Ruth McPherson, Anne Tybjaerg-Hansen, Goncalo R. Abecasis, Hugh Watkins, Deborah A. Nickerson, Diego Ardissino, Shamil R. Sunyaev, Christopher J. O'Donnell, David Altshuler, Stacey Gabriel and Sekar Kathiresan
Additional contact information
Ron Do: Center for Human Genetic Research, Massachusetts General Hospital
Nathan O. Stitziel: Washington University School of Medicine, St Louis, Missouri 63110, USA.
Hong-Hee Won: Center for Human Genetic Research, Massachusetts General Hospital
Anders Berg Jørgensen: Section for Molecular Genetics, Rigshospitalet, Copenhagen University Hospitals and Faculty of Health Sciences, University of Copenhagen
Stefano Duga: Università degli Studi di Milano
Pier Angelica Merlini: Ospedale Niguarda
Adam Kiezun: Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center
Martin Farrall: The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2J, UK.
Anuj Goel: The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2J, UK.
Or Zuk: Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center
Illaria Guella: Università degli Studi di Milano
Rosanna Asselta: Università degli Studi di Milano
Leslie A. Lange: University of North Carolina
Gina M. Peloso: Center for Human Genetic Research, Massachusetts General Hospital
Paul L. Auer: Fred Hutchinson Cancer Research Center
Domenico Girelli: University of Verona School of Medicine, Verona 37129, Italy.
Nicola Martinelli: University of Verona School of Medicine, Verona 37129, Italy.
Deborah N. Farlow: Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center
Mark A. DePristo: Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center
Robert Roberts: John & Jennifer Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, Ontario K1Y 4W7, Canada.
Alexander F. R. Stewart: John & Jennifer Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, Ontario K1Y 4W7, Canada.
Danish Saleheen: University of Cambridge, Cambridge CB2 1TN, UK.
John Danesh: University of Cambridge, Cambridge CB2 1TN, UK.
Stephen E. Epstein: MedStar Health Research Institute, Cardiovascular Research Institute
Suthesh Sivapalaratnam: Academic Medical Center, Amsterdam 1105 AZ, The Netherlands.
G. Kees Hovingh: Academic Medical Center, Amsterdam 1105 AZ, The Netherlands.
John J. Kastelein: Academic Medical Center, Amsterdam 1105 AZ, The Netherlands.
Nilesh J. Samani: University of Leicester, and Leicester NIHR Biomedical Research Unit in Cardiovascular Disease, Glenfield Hospital, Leicester LE3 9QP, UK.
Heribert Schunkert: DZHK (German Research Centre for Cardiovascular Research), Munich Heart Alliance, Deutsches Herzzentrum München, Technische Universität München, Berlin 13347, Germany.
Jeanette Erdmann: Medizinische Klinik II, University of Lübeck, Lübeck 23562, Germany.
Svati H. Shah: Center for Human Genetics, Duke University
William E. Kraus: Duke University School of Medicine
Robert Davies: University of Ottawa Heart Institute, Ottawa, Ontario K1Y 4W7, Canada.
Majid Nikpay: University of Ottawa Heart Institute, Ottawa, Ontario K1Y 4W7, Canada.
Christopher T. Johansen: Schulich School of Medicine and Dentistry, Robarts Research Institute, University of Western Ontario, London, Ontario N6A 3K7, Canada.
Jian Wang: Schulich School of Medicine and Dentistry, Robarts Research Institute, University of Western Ontario, London, Ontario N6A 3K7, Canada.
Robert A. Hegele: Schulich School of Medicine and Dentistry, Robarts Research Institute, University of Western Ontario, London, Ontario N6A 3K7, Canada.
Eliana Hechter: Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center
Winfried Marz: Medical Faculty Mannheim, Mannheim Institute of Public Health, Social and Preventive Medicine, Heidelberg University, Ludolf Krehl Strasse 7-11, Mannheim D-68167, Germany.
Marcus E. Kleber: Medical Faculty Mannheim, Mannheim Institute of Public Health, Social and Preventive Medicine, Heidelberg University, Ludolf Krehl Strasse 7-11, Mannheim D-68167, Germany.
Jie Huang: The National Heart, Lung, Blood Institute’s Framingham Heart Study
Andrew D. Johnson: National Heart, Lung, and Blood Institute Center for Population Studies, The Framingham Heart Study
Mingyao Li: School of Medicine, University of Pennsylvania
Greg L. Burke: University of Alabama–Birmingham
Myron Gross: School of Medicine, University of Minnesota
Yongmei Liu: School of Medicine, Wake Forest University
Themistocles L. Assimes: Stanford University School of Medicine
Gerardo Heiss: University of North Carolina
Ethan M. Lange: University of North Carolina
Aaron R. Folsom: University of Minnesota School of Public Health
Herman A. Taylor: University of Mississippi Medical Center
Oliviero Olivieri: University of Verona School of Medicine, Verona 37129, Italy.
Anders Hamsten: Atherosclerosis Research Unit, and Center for Molecular Medicine, Karolinska Institutet, Stockholm 171 77, Sweden.
Robert Clarke: Clinical Trial Service Unit and Epidemiological Studies Unit, University of Oxford, Oxford OX1 2JD, UK.
Dermot F. Reilly: Merck Sharp & Dohme Corporation
Wu Yin: Merck Sharp & Dohme Corporation
Manuel A. Rivas: The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2JD, UK.
Peter Donnelly: The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2JD, UK.
Jacques E. Rossouw: National Heart, Lung, and Blood Institute
Bruce M. Psaty: Cardiovascular Health Research Unit, Epidemiology, and Health Services, University of Washington
David M. Herrington: Section on Cardiology, and Public Health Sciences, Wake Forest School of Medicine, Winston–Salem, North Carolina 27106, USA.
James G. Wilson: Jackson Heart Study, University of Mississippi Medical Center, Jackson State University, Jackson, Mississippi 39217, USA.
Stephen S. Rich: Center for Public Health Genomics, University of Virginia
Michael J. Bamshad: University of Washington
Russell P. Tracy: University of Vermont
L. Adrienne Cupples: Boston University School of Public Health
Daniel J. Rader: Perelman School of Medicine, University of Pennsylvania
Muredach P. Reilly: Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania
John A. Spertus: St Luke’s Mid America Heart Institute, University of Missouri-Kansas City
Sharon Cresci: Washington University School of Medicine, St Louis, Missouri 63110, USA.
Jaana Hartiala: University of Southern California Keck School of Medicine
W. H. Wilson Tang: Cardiovascular Medicine, Cleveland Clinic
Stanley L. Hazen: Cardiovascular Medicine, Cleveland Clinic
Hooman Allayee: University of Southern California Keck School of Medicine
Alex P. Reiner: Fred Hutchinson Cancer Research Center
Christopher S. Carlson: Fred Hutchinson Cancer Research Center
Charles Kooperberg: Fred Hutchinson Cancer Research Center
Rebecca D. Jackson: Ohio State University
Eric Boerwinkle: Human Genetics Center, The University of Texas Health Science Center at Houston
Eric S. Lander: Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center
Stephen M. Schwartz: Fred Hutchinson Cancer Research Center
David S. Siscovick: University of Washington
Ruth McPherson: University of Ottawa Heart Institute, Ottawa, Ontario K1Y 4W7, Canada.
Anne Tybjaerg-Hansen: Section for Molecular Genetics, Rigshospitalet, Copenhagen University Hospitals and Faculty of Health Sciences, University of Copenhagen
Goncalo R. Abecasis: Center for Statistical Genetics, University of Michigan, Ann Arbor, Missouri 48109, USA.
Hugh Watkins: The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX1 2J, UK.
Deborah A. Nickerson: University of Washington
Diego Ardissino: Parma Hospital, Parma 43100, Italy.
Shamil R. Sunyaev: Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center
Christopher J. O'Donnell: The National Heart, Lung, Blood Institute’s Framingham Heart Study
David Altshuler: Center for Human Genetic Research, Massachusetts General Hospital
Stacey Gabriel: Program in Medical and Population Genetics, Broad Institute, 7 Cambridge Center
Sekar Kathiresan: Center for Human Genetic Research, Massachusetts General Hospital

Nature, 2015, vol. 518, issue 7537, 102-106

Abstract: Exome sequence analysis of nearly 10,000 people was carried out to identify alleles associated with early-onset myocardial infarction; mutations in low-density lipoprotein receptor (LDLR) or apolipoprotein A-V (APOA5) were associated with disease risk, identifying the key roles of low-density lipoprotein cholesterol and metabolism of triglyceride-rich lipoproteins.

Date: 2015
References: Add references at CitEc
Citations: View citations in EconPapers (4)

Downloads: (external link)
https://www.nature.com/articles/nature13917 Abstract (text/html)
Access to the full text of the articles in this series is restricted.

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:nat:nature:v:518:y:2015:i:7537:d:10.1038_nature13917

Ordering information: This journal article can be ordered from
https://www.nature.com/

DOI: 10.1038/nature13917

Access Statistics for this article

Nature is currently edited by Magdalena Skipper

More articles in Nature from Nature
Bibliographic data for series maintained by Sonal Shukla () and Springer Nature Abstracting and Indexing ().