作者
Sophie Garnier, Magdalena Harakalova, Stefan Weiss, Michal Mokry, Vera Regitz-Zagrosek, Christian Hengstenberg, Thomas P Cappola, Richard Isnard, Eloisa Arbustini, Stuart A Cook, Jessica van Setten, Jorg JA Calis, Hakon Hakonarson, Michael P Morley, Klaus Stark, Sanjay K Prasad, Jin Li, Declan P O'Regan, Maurizia Grasso, Martina Müller-Nurasyid, Thomas Meitinger, Jean-Philippe Empana, Konstantin Strauch, Melanie Waldenberger, Kenneth B Marguiles, Christine E Seidman, Georgios Kararigas, Benjamin Meder, Jan Haas, Pierre Boutouyrie, Patrick Lacolley, Xavier Jouven, Jeanette Erdmann, Stefan Blankenberg, Thomas Wichter, Volker Ruppert, Luigi Tavazzi, Olivier Dubourg, Gérard Roizes, Richard Dorent, Pascal de Groote, Laurent Fauchier, Jean-Noël Trochu, Jean-François Aupetit, Zofia T Bilinska, Marine Germain, Uwe Völker, Daiane Hemerich, Ibticem Raji, Delphine Bacq-Daian, Carole Proust, Paloma Remior, Manuel Gomez-Bueno, Kristin Lehnert, Renee Maas, Robert Olaso, Ganapathi Varma Saripella, Stephan B Felix, Steven McGinn, Laëtitia Duboscq-Bidot, Alain van Mil, Céline Besse, Vincent Fontaine, Hélène Blanché, Flavie Ader, Brendan Keating, Angélique Curjol, Anne Boland, Michel Komajda, François Cambien, Jean-François Deleuze, Marcus Dörr, Folkert W Asselbergs, Eric Villard, David-Alexandre Trégouët, Philippe Charron
发表日期
2021/5/21
期刊
European heart journal
卷号
42
期号
20
页码范围
2000-2011
出版商
Oxford University Press
简介
Aims
Our objective was to better understand the genetic bases of dilated cardiomyopathy (DCM), a leading cause of systolic heart failure.
Methods and results
We conducted the largest genome-wide association study performed so far in DCM, with 2719 cases and 4440 controls in the discovery population. We identified and replicated two new DCM-associated loci on chromosome 3p25.1 [lead single-nucleotide polymorphism (SNP) rs62232870, P = 8.7 × 10−11 and 7.7 × 10−4 in the discovery and replication steps, respectively] and chromosome 22q11.23 (lead SNP rs7284877, P = 3.3 × 10−8 and 1.4 × 10−3 in the discovery and replication steps, respectively), while confirming two previously identified DCM loci on chromosomes 10 and 1, BAG3 and HSPB7. A genetic risk score constructed from the number of risk alleles at these four DCM loci revealed a 3-fold increased …
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S Garnier, M Harakalova, S Weiss, M Mokry… - European heart journal, 2021