作者
Heart Attack Risk in Puget Sound. Schwartz Stephen M 20 26 Siscovick David S 20 Yee Jean 20 26 Friedlander Yechiel 42, Registre Gironi del COR. Elosua Roberto 22 Marrugat Jaume 22 Lucas Gavin 22 Subirana Isaac 22 Sala Joan 43 Ramos Rafael 44, Massachusetts General Hospital Premature Coronary Artery Disease Study. Kathiresan Sekar 1 2 3 4 Meigs James B 4 45 Williams Gordon 4 46 Nathan David M 4 47 MacRae Calum A 1 4 O'Donnell Christopher J 1 4 21, FINRISK. Salomaa Veikko 25 Havulinna Aki S 25 Peltonen Leena 3 23 24, Malmo Diet and Cancer Study. Melander Olle 27 Berglund Goran 48, Stage 1 data analysis. Voight Benjamin F (leader) 2 3 5 Kathiresan Sekar 1 2 3 4 Hirschhorn Joel N 3 28 Asselta Rosanna 49 Duga Stefano 49 Spreafico Marta 8 Musunuru Kiran 1 2 3 4 Daly Mark J 2 3 4 Purcell Shaun 2 3 6, Copy number variant analysis. Voight Benjamin F 2 3 5 Purcell Shaun 2 3 6 Nemesh James 3 Korn Joshua M 2 3 5 McCarroll Steven A 2 3 5, Stage 1 phenotype data assembly. Schwartz Stephen M (leader) 20 26 Yee Jean 20 26 Kathiresan Sekar 1 2 3 4 Lucas Gavin 22 Subirana Isaac 22 Elosua Roberto 22, Stage 1 genome-wide genotyping. Surti Aarti 3 Guiducci Candace 3 Gianniny Lauren 3 Mirel Daniel 3 Parkin Melissa 3 Burtt Noel 3 Gabriel Stacey B (leader) 3, Wellcome Trust Case Control Consortium. Samani Nilesh J 11 Thompson John R 50 Braund Peter S 11 Wright Benjamin J 50 Balmforth Anthony J 51 Ball Stephen G 51 Hall Alistair S 51 Wellcome Trust Case Control Consortium, Heribert Schunkert, Jeanette Erdmann, Patrick Linsel-Nitschke, Wolfgang Lieb, Andreas Ziegler, Inke R König, Christian Hengstenberg, Marcus Fischer, Klaus Stark, Anika Grosshennig, Michael Preuss, H-Erich Wichmann, Stefan Schreiber, Heribert Schunkert, Nilesh J Samani, Jeanette Erdmann, Willem Ouwehand, Christian Hengstenberg, Panos Deloukas, Michael Scholz, Francois Cambien, Cardiogenics., Muredach P Reilly, Mingyao Li, Zhen Chen, Robert Wilensky, William Matthai, Atif Qasim, Hakon H Hakonarson, Joe Devaney, Mary-Susan Burnett, Augusto D Pichard, Kenneth M Kent, Lowell Satler, Joseph M Lindsay, Ron Waksman, Christopher W Knouff, Dawn M Waterworth, Max C Walker, Vincent Mooser, Stephen E Epstein, Daniel J Rader, Thomas Scheffold, Klaus Berger, Monika Stoll, Andreas Huge, Domenico Girelli, Nicola Martinelli, Oliviero Olivieri, Roberto Corrocher, Thomas Morgan, John A Spertus, Pascal P McKeown, Chris C Patterson, Heribert Schunkert, Jeanette Erdmann, Patrick Linsel-Nitschke, Wolfgang Lieb, Andreas Ziegler, Inke R König, Christian Hengstenberg, Marcus Fischer, Klaus Stark, Anika Grosshennig, Michael Preuss, H-Erich Wichmann, Stefan Schreiber, Hilma Hólm, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Kari Stefansson, James C Engert, Ron Do, Changchun Xie, Sonia Anand, Sekar Kathiresan, Diego Ardissino, Pier M Mannucci, David Siscovick, Christopher J O'Donnell, Nilesh J Samani, Olle Melander, Roberto Elosua, Leena Peltonen, Veikko Salomaa, Stephen M Schwartz, David Altshuler
发表日期
2009/3
期刊
Nature genetics
卷号
41
期号
3
页码范围
334-341
出版商
Nature Publishing Group US
简介
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 and 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,,, (9p21, 1p13 near CELSR2-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 …
引用总数
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