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Research Article

Genetic Association Study Identifies HSPB7 as a Risk Gene for Idiopathic Dilated Cardiomyopathy

  • Klaus Stark,

    Affiliation: Klinik und Poliklinik für Innere Medizin II, Universitätsklinikum Regensburg, Regensburg, Germany

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  • Ulrike B. Esslinger,

    Affiliation: Klinik und Poliklinik für Innere Medizin II, Universitätsklinikum Regensburg, Regensburg, Germany

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  • Wibke Reinhard,

    Affiliation: Klinik und Poliklinik für Innere Medizin II, Universitätsklinikum Regensburg, Regensburg, Germany

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  • George Petrov,

    Affiliations: Institute for Gender in Medicine, Center for Cardiovascular Research, Charité Campus Mitte, Berlin, Germany, Department of Cardiothoracic and Vascular Surgery, German Heart Institute Berlin, Berlin, Germany

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  • Thomas Winkler,

    Affiliation: Institute of Epidemiology, Public Health, and Gender Studies, University of Regensburg, Regensburg, Germany

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  • Michel Komajda,

    Affiliation: Institut National de la Santé et de la Recherche Médicale (INSERM) UMR-S956, University Pierre et Marie Curie (Paris 6), Institut de Cardiologie, Département de Génétique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France

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  • Richard Isnard,

    Affiliation: Institut National de la Santé et de la Recherche Médicale (INSERM) UMR-S956, University Pierre et Marie Curie (Paris 6), Institut de Cardiologie, Département de Génétique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France

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  • Philippe Charron,

    Affiliation: Institut National de la Santé et de la Recherche Médicale (INSERM) UMR-S956, University Pierre et Marie Curie (Paris 6), Institut de Cardiologie, Département de Génétique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France

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  • Eric Villard,

    Affiliation: Institut National de la Santé et de la Recherche Médicale (INSERM) UMR-S956, University Pierre et Marie Curie (Paris 6), Institut de Cardiologie, Département de Génétique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France

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  • François Cambien,

    Affiliation: Institut National de la Santé et de la Recherche Médicale (INSERM), UMR-S937, University Pierre et Marie Curie (Paris 6), Paris, France

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  • Laurence Tiret,

    Affiliation: Institut National de la Santé et de la Recherche Médicale (INSERM), UMR-S937, University Pierre et Marie Curie (Paris 6), Paris, France

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  • Marie-Claude Aumont,

    Affiliation: Service de Cardiologie, Hôpital Bichat, AP-HP, Paris, France

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  • Olivier Dubourg,

    Affiliation: Service de Cardiologie, Université de Versailles-Saint Quentin, Hôpital Ambroise Paré, AP-HP, Boulogne, France

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  • Jean-Noël Trochu,

    Affiliation: Service de Cardiologie, Hôpital Laennec, Nantes, France

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  • Laurent Fauchier,

    Affiliation: Service de Cardiologie B et Laboratoire d'Electrophysiologie Cardiaque, Pole Cœur Thorax Vasculaire Hémostase, Centre Hospitalier Universitaire Trousseau, Tours, France

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  • Pascal DeGroote,

    Affiliation: Service de Cardiologie, Hôpital Cardiologique, Lille, France

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  • Anette Richter,

    Affiliation: Klinik für Innere Medizin I - Kardiologie, Philipps-Universität Marburg, Marburg, Germany

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  • Bernhard Maisch,

    Affiliation: Klinik für Innere Medizin I - Kardiologie, Philipps-Universität Marburg, Marburg, Germany

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  • Thomas Wichter,

    Affiliation: Medizinische Klinik und Poliklinik C, Kardiologie und Angiologie, Universitätsklinikum Münster, Münster, Germany

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  • Christa Zollbrecht,

    Affiliation: Klinik und Poliklinik für Innere Medizin II, Universitätsklinikum Regensburg, Regensburg, Germany

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  • Martina Grassl,

    Affiliation: Klinik und Poliklinik für Innere Medizin II, Universitätsklinikum Regensburg, Regensburg, Germany

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  • Heribert Schunkert,

    Affiliation: Medizinische Klinik II, Universität zu Lübeck, Lübeck, Germany

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  • Patrick Linsel-Nitschke,

    Affiliation: Medizinische Klinik II, Universität zu Lübeck, Lübeck, Germany

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  • Jeanette Erdmann,

    Affiliation: Medizinische Klinik II, Universität zu Lübeck, Lübeck, Germany

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  • Jens Baumert,

    Affiliation: Institute of Epidemiology, HelmholtzZentrum München, München-Neuherberg, Germany

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  • Thomas Illig,

    Affiliation: Institute of Epidemiology, HelmholtzZentrum München, München-Neuherberg, Germany

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  • Norman Klopp,

    Affiliation: Institute of Epidemiology, HelmholtzZentrum München, München-Neuherberg, Germany

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  • H.-Erich Wichmann,

    Affiliation: Institute of Epidemiology, HelmholtzZentrum München, München-Neuherberg, Germany

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  • Christa Meisinger,

    Affiliations: Institute of Epidemiology, HelmholtzZentrum München, München-Neuherberg, Germany, Central Hospital of Augsburg, MONICA/KORA Myocardial Infarction Registry, Augsburg, Germany

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  • Wolfgang Koenig,

    Affiliation: Department of Internal Medicine II – Cardiology, University of Ulm Medical Center, Ulm, Germany

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  • Peter Lichtner,

    Affiliation: Institute of Human Genetics, HelmholtzZentrum München, München-Neuherberg, Germany

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  • Thomas Meitinger,

    Affiliations: Institute of Human Genetics, HelmholtzZentrum München, München-Neuherberg, Germany, Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, München, Germany

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  • Arne Schillert,

    Affiliation: Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany

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  • Inke R. König,

    Affiliation: Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck, Germany

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  • Roland Hetzer,

    Affiliation: Department of Cardiothoracic and Vascular Surgery, German Heart Institute Berlin, Berlin, Germany

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  • Iris M. Heid,

    Affiliations: Institute of Epidemiology, Public Health, and Gender Studies, University of Regensburg, Regensburg, Germany, Institute of Epidemiology, HelmholtzZentrum München, München-Neuherberg, Germany

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  • Vera Regitz-Zagrosek,

    Affiliation: Institute for Gender in Medicine, Center for Cardiovascular Research, Charité Campus Mitte, Berlin, Germany

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  • Christian Hengstenberg mail

    christian.hengstenberg@klinik.uni-regensburg.de

    Affiliation: Klinik und Poliklinik für Innere Medizin II, Universitätsklinikum Regensburg, Regensburg, Germany

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  • Published: October 21, 2010
  • DOI: 10.1371/journal.pgen.1001167

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Copy of distributed press release

Posted by PLoS_Genetics on 26 Nov 2010 at 15:43 GMT

Risk gene for severe heart disease discovered

Research led by Klaus Stark and Christian Hengstenberg of the University of Regensburg identified a common variant of the cardiovascular heat shock protein gene, HSPB7, which was found to increase risk for dilated cardiomyopathy by almost 50%. Their paper appears on October 28 in the open-access journal PLoS Genetics.

Per year, about 6 in 100,000 individuals develop dilated cardiomyopathy (DCM), with a higher prevalence in men. This disease is characterized by an enlarged, weakened heart, subsequently affecting the pumping capacity and often leading to chronic heart failure.

Those cases of DCM that occur in certain family groups are associated with a number of mutations affecting muscle cells. However, most cases are of unknown cause. To identify risk alleles for non-familial forms of DCM, an international collaboration of scientists analyzed the contribution of common gene variants to the more frequent, sporadic form of dilated cardiomyopathy, by conducting a large-scale genetic association study with more than 5,500 subjects. Different study groups from Germany and France contributed both well-characterized DCM patients and healthy controls. The HSPB7 gene was strongly associated with susceptibility to DCM.

The researchers concluded that, while genetic testing for this variant is not suitable to date, the findings are a first step towards supporting future preventive measures for this severe form of heart muscle disease.

No competing interests declared.

Further media coverage

PLoS_Genetics replied to PLoS_Genetics on 26 Nov 2010 at 15:45 GMT

Covered in insidermedicine in 60:

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No competing interests declared.