Kathiresan, Sekar and Altschuler, David and Anand, Sonia and Ardissino, Diego and Asselta, Rosanna and Ball, Stephen G. and Balmforth, Anthony J. and Berger, Klaus and Berglund, Goran and Bernardi, Francesco and Bernardinelli, Luisa and Berzuini, Carlo and Braund, Peter S. and Burnett, Mary-Susan and Burtt, Noel and Cambien, Francois and Casari, Giorgio and Celli, Patrizia and Chen, Zhen and Corrocher, Roberto and Daly, Mark J. and Deloukas, Panos and Devaney, Joe and Do, Ron and Duga, Stefano and Elosua, Roberto and Engert, James C. and Epstein, Stephen E. and Erdmann, Jeanette and Ferrario, Maurizio and Fetiveau, Raffaela and Fischer, Marcus and Friedlander, Yechiel and Gabriel, Stacey B. and Galli, Michele and Gianniny, Lauren and Girelli, Domenico and Grosshennig, Anika and Guiducci, Candace and Hakonarson, Hakon H. and Hall, Alistair S. and Havulinna, Aki S. and Hengstenberg, Christian and Hirschhorn, Joel N. and Holm, Hilma and Huge, Andreas and Kent, Kenneth M. and Konig, Inke R. and Korn, Joshua M. and Li, Mingyao and Lieb, Wolfgang and Lindsay, Joseph M. and Linsel-Nitschke, Patrick and Lucas, Gavin and MacRae, Calum A. and Mannucci, Pier M. and Marrugat, Jaume and Martinelli, Nicola and Marziliano, Nicola and Matthai, William and McCarroll, Steven A. and McKeown, Pascal P. and Meigs, James B. and Melander, Olle and Merlini, Pier Angelica and Mirel, Daniel and Morgan, Thomas and Musunuru, Kiran and Nathan, David M. and Nemesh, James and O'Donnell, Christopher J. and Olivieri, Oliviero and Ouwehand, Willem and Parkin, Melissa and Patterson, Chris C. and Peltonen, Leena and Peyvandi, Flora and Piazza, Alberto and Pichard, Augusto D. and Preuss, Michael and Purcell, Shaun and Qasim, Atif and Rader, Daniel J. and Ramos, Rafael and Reilly, Muredach P. and Ribichini, Flavio and Rossi, Marco and Sala, Joan and Salomaa, Veikko and Samani, Nilesh J. and Satler, Lowell and Scheffold, Thomas and Scholz, Michael and Schreiber, Stefan and Schunkert, Heribert and Schwartz, Stephen M. and Siscovick, David S. and Spertus, John A. and Spreafico, Marta and Stark, Klaus and Stefansson, Kari and Stoll, Monika and Subirana, Isaac and Surti, Aarti and Thompson, John R. and Thorleifsson, Gudmar and Thorsteinsdottir, Unnur and Tubaro, Marco and Voight, Benjamin F. and Waksman, Ron and Wichmann, H-Erich and Wilensky, Robert and Williams, Gordon and Wright, Benjamin J. and Xie, Changchun and Yee, Jean and Ziegler, Andreas and Zonzin, Pietro (2009) Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. NATURE GENETICS, 41 (3). pp. 334-341. ISSN 1061-4036, 1546-1718
Full text not available from this repository. (Request a copy)Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CORONARY-ARTERY-DISEASE; LDL-RECEPTOR GENE; HEART-DISEASE; CARDIOVASCULAR-DISEASE; COMMON VARIANTS; RISK; CHOLESTEROL; LOCI; PCSK9; HYPERCHOLESTEROLEMIA; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Innere Medizin II |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 05 Oct 2020 06:50 |
| Last Modified: | 05 Oct 2020 06:50 |
| URI: | https://pred.uni-regensburg.de/id/eprint/29424 |
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