Risk Gene For Severe Heart Disease Discovered Main Category: Heart Disease Also Included In: Genetics; Cardiovascular / Cardiology Article Date: 22 Oct 2010 - 0:00 PDT
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
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