Building on these findings, the Helmholtz scientists and their clinical partners want to obtain further insights into the pathogenesic mechanisms of the disease and gain perspectives for early diagnosis and therapy. The results of the genome-wide study have been published online in the journal Nature Genetics.
Together with scientists of the international research consortium QTSCD (QT Interval and Sudden Cardiac Death), Dr. Arne Pfeufer of the Institute of human Genetics at Helmholtz Zentrum Mnchen has identified 10 gene variants which predispose to an elevated risk for arrhythmias and SCD. In interaction with other, still undiscovered factors, these gene variants influence heart repolarization and raise or lower the risk of cardiac arrhythmias. In their study, the scientists examined the electrocardiograms of more than 15,000 persons from Germany, Italy and the U.S.
"The results of a second science consortium, QTGEN, were nearly identical to our findings," said Pfeufer. This provides assurance for the scientists involved in the study the Munich research team led by Professor Thomas Meitinger, institute director at Helmholtz Zentrum Mnchen and holder of the chair in human genetics at the Technische Universitt Mnchen (TUM) and Assistant Professor Stefan Kb, MD, senior physician at the University Hospital of Munich, Campus Grosshadern, along with their German, Italian and American colleagues that their approach was correct and that the findings are absolutely reliable.
"For clinicians, an important indicator for increased arrhythmia risk is the QT interval in the ECG," Stefan Kb explained. The QT interval describes the time span needed to send the electrical impulse into the heart ventricles and then to recharge. A prolonged QT interval can depending on the underlying disease increase the risk of arrhythmias and SCD up to five-fold.
The scientists were not looking for rare variants carried by only a few people. Rathe
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Helmholtz Zentrum Mnchen - German Research Center for Environmental Health