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.
FINANCIAL DISCLOSURE: Part of this work was financed by the German National Genome Research Network (NGFN-2 01GS0417 and NGFNplus Atherogenomics 01GS0832) and by the University Hospital of Regensburg, Germany. Part of this work was supported by grants from Assistance Publique - Hopitaux de Paris [PHRC: AOM04141], the Fondation LEDUCQ (Eurogene Heart Failure network and CAERUS network), the Societe Francaise de Cardiologie/Federation Francaise de Cardiologie (grant in 2006). The KORA research platform (KORA, Cooperative Research in the Region of Augsburg) was initiated and financed by the Helmholtz Center Munich - German Research Center for Environmental Health, which is funded by the German Federal Ministry of Education and Research (BMBF) and by the State of Bavaria. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
COMPETING INTERESTS: The authors have declared that no competing interests exist.
CITATION: Stark K, Esslinger UB, Reinhard W, Petrov G, Winkler T, et al. (2010) Genetic Association Study Identifies HSPB7 as a Risk Gene for Idiopathic Dilated Cardiomyopathy. PLoS Genet 6(10): e1001167. doi:10.1371/journal.pgen.1001167
PLEASE ADD THIS LINK TO THE FREELY AVAILABLE ARTICLE IN ONLINE VERSIONS OF YOUR REPORT (the link will go live when the embargo ends): http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.101167
PRESS-ONLY PREVIEW OF THE ARTICLE: http://www.plos.org/press/plge-06-10-hengstenberg.pdf
This press release refers to an upcoming article in PLoS Genetics. The release is provided by journal staff, or by the article authors and/or their institutions. Any opinions expressed in this release or article are the personal views of the journal staff and/or article contributors, and do not necessarily represent the views or policies of PLoS. PLoS expressly disclaims any and all warranties and liability in connection with the information found in the releases and articles and your use of such information.
About PLoS Genetics PLoS Genetics (http://www.plosgenetics.org) reflects the full breadth and interdisciplinary nature of genetics and genomics research by publishing outstanding original contributions in all areas of biology. All works published in PLoS Genetics are open access. Everything is immediately and freely available online throughout the world subject only to the condition that the original authorship and source are properly attributed. Copyright is retained by the authors. The Public Library of Science uses the Creative Commons Attribution License.
About the Public Library of Science
The Public Library of Science (PLoS) is a non-profit organization of scientists and physicians committed to making the world's scientific and medical literature a freely available public resource. For more information, visit http://www.plos.org.
AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert! system.