Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Sekar Kathiresan; David Altschuler; Sonia Anand; Diego Ardissino; Rosanna Asselta; Stephen G. Ball; Anthony J. Balmforth; Klaus Berger; Goran Berglund; Francesco Bernardi; Luisa Bernardinelli; Carlo Berzuini; Peter S. Braund; Mary-Susan Burnett; Noel Burtt; Francois Cambien; Giorgio Casari; Patrizia Celli; Zhen Chen; Roberto Corrocher; Mark J. Daly; Panos Deloukas; Joe Devaney; Ron Do; Stefano Duga; Roberto Elosua; James C. Engert; Stephen E. Epstein; Jeanette Erdmann; Maurizio Ferrario; Raffaela Fetiveau; Marcus Fischer; Yechiel Friedlander; Stacey B. Gabriel; Michele Galli; Lauren Gianniny; Domenico Girelli; Anika Grosshennig; Candace Guiducci; Hakon H. Hakonarson; Alistair S. Hall; Aki S. Havulinna; Christian Hengstenberg; Joel N. Hirschhorn; Hilma Holm; Andreas Huge; Kenneth M. Kent; Inke R. Konig; Joshua M. Korn; Mingyao Li; Wolfgang Lieb; Joseph M. Lindsay; Patrick Linsel-Nitschke; Gavin Lucas; Calum A. MacRae; Pier M. Mannucci; Jaume Marrugat; Nicola Martinelli; Nicola Marziliano; William Matthai; Steven A. McCarroll; Pascal P. McKeown; James B. Meigs; Olle Melander; Pier Angelica Merlini; Daniel Mirel; Thomas Morgan; Kiran Musunuru; David M. Nathan; James Nemesh; Christopher J. O'Donnell; Oliviero Olivieri; Willem Ouwehand; Melissa Parkin; Chris C. Patterson; Leena Peltonen; Flora Peyvandi; Alberto Piazza; Augusto D. Pichard; Michael Preuss; Shaun Purcell; Atif Qasim; Daniel J. Rader; Rafael Ramos; Muredach P. Reilly; Flavio Ribichini; Marco Rossi; Joan Sala; Veikko Salomaa; Nilesh J. Samani; Lowell Satler; Thomas Scheffold; Michael Scholz; Stefan Schreiber; Heribert Schunkert; Stephen M. Schwartz; David S. Siscovick; John A. Spertus; Marta Spreafico; Klaus Stark; Kari Stefansson; Monika Stoll; Isaac Subirana; Aarti Surti; John R. Thompson; Gudmar Thorleifsson; Unnur Thorsteinsdottir; Marco Tubaro; Benjamin F. Voight; Ron Waksman; H-Erich Wichmann; Robert Wilensky; Gordon Williams; Benjamin J. Wright; Changchun Xie; Jean Yee; Andreas Ziegler; Pietro Zonzin; Myocardial Infarction Genetics Consortium

doi:10.1038/ng.327

Back

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Journal article

Peer reviewed

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Sekar Kathiresan, David Altschuler, Sonia Anand, Diego Ardissino, Rosanna Asselta, Stephen G. Ball, Anthony J. Balmforth, Klaus Berger, Goran Berglund, Francesco Bernardi, …

Nature genetics, Vol.41(3), pp.334-341

01/03/2009

DOI: https://doi.org/10.1038/ng.327

PMID: 19198609

Abstract

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

We conducted a genome-wide association study testing single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) for association with early-onset myocardial infarction in 2,967 cases ad 3,075 controls. We carried out replication in an independent sample with an effective sample size of up to 19,492. SNPs at nine loci reached genome-wide significance: three are newly identified (21q22 near MRPS6-SLC5A3-KCNE2, 6p24 in PHACTR1 and 2q33 in WDR12) and six replicated prior observations(1-4) (9p21, 1p13 near CERSL2-PSRC1-SORT1, 10q11 near CXCL12, 1q41 in MIA3, 19p13 near LDLR and 1p32 near PCSK9). We tested 554 common copy number polymorphisms (> 1% allele frequency) and none met the pre-specified threshold for replication (P < 10(-3)). We identified 8,065 rare CNVs but did not detect a greater CNV burden in cases compared to controls, in genes compared to the genome as a whole, or at any individual locus. SNPs at nine loci were reproducibly associated with myocardial infarction, but tests of common and rare CNVs failed to identify additional associations with myocardial infarction risk.

Metrics

1 Record Views

See more details

Details

Title: Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
Creators - without role: Sekar Kathiresan - Harvard University
David Altschuler
Sonia Anand - McMaster University
Diego Ardissino
Rosanna Asselta
Stephen G. Ball
Anthony J. Balmforth - University of Leeds
Klaus Berger
Goran Berglund - Lund University
Francesco Bernardi - University of Ferrara
Luisa Bernardinelli - University of Cambridge
Carlo Berzuini - University of Cambridge
Peter S. Braund - University of Leicester
Mary-Susan Burnett - MedStar Washington Hospital Center
Noel Burtt - Broad Institute
Francois Cambien - Université Paris Cité
Giorgio Casari - Vita-Salute San Raffaele University
Patrizia Celli
Zhen Chen - University of Pennsylvania
Roberto Corrocher
Mark J. Daly - Harvard University
Panos Deloukas - Wellcome Sanger Institute
Joe Devaney - MedStar Washington Hospital Center
Ron Do
Stefano Duga
Roberto Elosua
James C. Engert - McGill University
Stephen E. Epstein
Jeanette Erdmann - University of Lübeck
Maurizio Ferrario
Raffaela Fetiveau
Marcus Fischer - University of Regensburg
Yechiel Friedlander - Hebrew University of Jerusalem
Stacey B. Gabriel - Broad Institute
Michele Galli
Lauren Gianniny - Broad Institute
Domenico Girelli - University of Verona
Anika Grosshennig - University of Lübeck
Candace Guiducci - Broad Institute
Hakon H. Hakonarson - University of Pennsylvania
Alistair S. Hall
Aki S. Havulinna - Finnish Institute for Health and Welfare
Christian Hengstenberg - University of Regensburg
Joel N. Hirschhorn - Harvard University
Hilma Holm
Andreas Huge
Kenneth M. Kent
Inke R. Konig - University of Lübeck
Joshua M. Korn - Harvard University
Mingyao Li - University of Pennsylvania
Wolfgang Lieb - University of Lübeck
Joseph M. Lindsay
Patrick Linsel-Nitschke - University of Lübeck
Gavin Lucas
Calum A. MacRae - Harvard University
Pier M. Mannucci - Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Jaume Marrugat
Nicola Martinelli
Nicola Marziliano
William Matthai - University of Pennsylvania
Steven A. McCarroll - Harvard University
Pascal P. McKeown - Queen's University Belfast
James B. Meigs - Harvard University
Olle Melander - Lund University
Pier Angelica Merlini
Daniel Mirel - Broad Institute
Thomas Morgan - Vanderbilt University
Kiran Musunuru - Harvard University
David M. Nathan
James Nemesh - Broad Institute
Christopher J. O'Donnell - Boston University
Oliviero Olivieri
Willem Ouwehand - University of Cambridge
Melissa Parkin - Broad Institute
Chris C. Patterson
Leena Peltonen - University of Helsinki
Flora Peyvandi - Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Alberto Piazza - University of Turin
Augusto D. Pichard
Michael Preuss - University of Lübeck
Shaun Purcell - Broad Institute
Atif Qasim - University of Pennsylvania
Daniel J. Rader - University of Pennsylvania
Rafael Ramos
Muredach P. Reilly - University of Pennsylvania
Flavio Ribichini - University of Verona
Marco Rossi
Joan Sala - University of Girona
Veikko Salomaa - Finnish Institute for Health and Welfare
Nilesh J. Samani - University of Leicester
Lowell Satler
Thomas Scheffold
Michael Scholz
Stefan Schreiber - Kiel University
Heribert Schunkert - University of Lübeck
Stephen M. Schwartz - University of Washington
David S. Siscovick - University of Washington
John A. Spertus - University of Missouri–Kansas City
Marta Spreafico - University of Milan
Klaus Stark - University of Regensburg
Kari Stefansson
Monika Stoll - University of Münster
Isaac Subirana
Aarti Surti - Broad Institute
John R. Thompson
Gudmar Thorleifsson
Unnur Thorsteinsdottir
Marco Tubaro
Benjamin F. Voight - Harvard University
Ron Waksman
H-Erich Wichmann - Ludwig-Maximilians-Universität München
Robert Wilensky - University of Pennsylvania
Gordon Williams - Harvard University
Benjamin J. Wright
Changchun Xie
Jean Yee - University of Washington
Andreas Ziegler - University of Lübeck
Pietro Zonzin
Myocardial Infarction Genetics Consortium
Publication Details: Nature genetics, Vol.41(3), pp.334-341
Publisher: Springer Nature
Number of pages: 8
Grant note: Italian Ministry of University and Research; Ministry of Education, Universities and Research (MIUR) Wellcome Trust Cardiovascular Institute of the University of Pennsylvania National Heart, Lung, and Blood Institute; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Heart Lung & Blood Institute (NHLBI) British Heart Foundation U54 RR020278 / National Center for Research Resources; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Research Resources (NCRR) ES/G007438/1 / ESRC; UK Research & Innovation (UKRI); Economic & Social Research Council (ESRC) Royal Victoria Hospital Research Fellowship Michael G. DeGroote and Heart and Stroke Foundation of Ontario Chair in Population Health Northern Ireland Research and Development Office UK Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) Doris Duke Charitable Foundation Clinical Scientist Development Award; American Heart Association; Doris Duke Charitable Foundation (DDCF) Finnish Foundation for Cardiovascular Research Red HERACLES RD06/0009 / Ministerio de Sanidad y Consumo Instituto de Salud Carlos III; Instituto de Salud Carlos III Fannie E. Rippel Foundation Deutsche Forschungsgemeinschaft; German Research Foundation (DFG) MedStar Research Institute G0802320 / MRC; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) Sigrid Juselius Foundation Canadian Institutes for Health Research; Canadian Institutes of Health Research (CIHR) Northern Ireland Chest, Heart and Stroke Association Canada Graduate Scholarship Doctoral Award from the Canadian Institutes for Health Research; Canadian Institutes of Health Research (CIHR) K24 DK080140; N01HD013107; P30ES007033; R01HL056931 / US National Institutes of Health; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA Heart Trust Fund (Royal Victoria Hospital) May Cohen Eli Lilly Endowed Chair in Womens Health Research, McMaster University Veneto Region; Regione Veneto FIS de Catalunya Department of Medicine and Cardiovascular Research Center at Massachusetts General Hospital Center of Excellence in Complex Disease Genetics of the Academy of Finland; Research Council of Finland G0802320 / Medical Research Council; UK Research & Innovation (UKRI); Medical Research Council UK (MRC) German Federal Ministry of Education and Research; Federal Ministry of Education & Research (BMBF) CIBER Epidemiologia y Salud Publica Cariverona Foundation, Verona, Italy; Fondazione Cariverona GlaxoSmithKline Donovan Family Foundation AGAUR Generalitat de Catalunya; Agencia de Gestio D'Ajuts Universitaris de Recerca Agaur (AGAUR); Generalitat de Catalunya LSHM-CT- 2006-037593 / European Union; European Commission; Spanish Government The Broad Institute Center for Genotyping and Analysis ES/G007438/1 / Economic and Social Research Council; UK Research & Innovation (UKRI); Economic & Social Research Council (ESRC) Nordic Center of Excellence in Disease Genetics
Identifiers: 9936726108331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article