An international consortium of researchers have identified multiple genetic mutations for heart attack and coronary heart disease, including one gene that increases heart attack risk by 29%.
Overall the consortium will analyse the complete genetic profiles of more than 22,000 people of European descent with CAD or a heart attack history, and 60,000 healthy people — 10 times more than in the next largest whole-genome study to date – from both published and unpublished studies.
The Coronary ARtery DIsease Genome-wide Replication And Meta-Analysis (CARDIoGRAM) has been published in Circulation: Cardiovascular Genetics, an American Heart Association journal.
“Only a small proportion of the inheritability of CAD has been explained,” said, The task is challenging because of the complex nature of atherosclerosis, with multiple genetic factors contributing in small ways to the disease, said Heribert Schunkert, a professor of medicine at the University of Lubeck in Germany and a spokesman for CARDIoGRAM.
In a typical genome-wide association study with about 1,000 patients and controls, the power to detect a genetic mutation with a significant effect is low.
“Collectively, our consortium increases the power of these findings 10-fold,” Schunkert said. “By pooling all of the published and unpublished data, we hope to make discoveries that might have been overlooked. Given that up to 2.5 million comparisons are carried out, in parallel, for each whole-genome scan, distinguishing between true and false associations has been difficult.”
The data will be maintained in a central database, and each genetic mutation that appears related to heart disease will be subjected to replication studies to confirm its significance. “We hope that by combining all of the known whole-genome data, we will be able to provide some answers,” he said.
