13 heart disease risk genes identified

By Dr. Ananya Mandal, MDMar 7 2011

Researchers have found 13 new gene variants that might increase the risk of heart disease. Heart disease being the largest killer worldwide, this discovery could shed light on causes and lead to more effective treatments.

The study in the journal Nature Genetics analyzed data from 14 previous studies by more than 150 researchers all over the world, including the United States, Iceland, Canada, and Great Britain.

These genes may be responsible for onset of heart vessel plaque build-up, a condition that often leads to fatal heart attacks. Study co-author Dr. Thomas Quertermous, a professor in cardiovascular medicine at Stanford University in Palo Alto, Calif., said, “I’ve been waiting my entire life to see the names of these genes… We are making huge progress, but there is much work left to do.” He added, “these new discoveries will allow scientists worldwide to eventually better understand the root causes of coronary atherosclerosis, possibly leading to important new drug therapies that may profoundly reduce the risk of having a heart attack.”

For the study the authors reviewed the genetic profiles of more than 22,000 men and women, all of European descent and all heart disease patients. In addition, they examined the genetic profiles of another 60,000 healthy individuals. After looking at all this data the research consortium finally settled on 13 gene regions linked to atherosclerosis risk.

Study co-author, Dr. Themistocles (Tim) Assimes, an assistant professor of medicine at Stanford said, “With such information we should be able to better identify people at high risk early on in life and quickly take the steps to neutralize that excess risk by strongly recommending lifestyle and pharmacological therapies that we already know substantially reduce risk…(But) although we are inching closer to that day, we will probably need to reliably identify many more variants predisposing to heart attacks over the next few years before it becomes useful to perform this genetic profiling in a doctor's office.”

“This is truly a landmark study in the discovery of genetic variants associated with coronary artery disease,” said Dr. Geoffrey Ginsburg, American College of Cardiology spokesman. He added, “What is remarkable is the sheer number of novel genes that have been found to be associated with coronary artery disease that were previously unknown and not suspected to be associated with this disease.” Ginsburg also cautions against getting too excited about these latest study results, as they do not necessarily mean scientists will be able to develop new gene-based testing for heart disease risk. “Knowing one’s genetic risk might be more motivating for an individual to reduce their risk through lifestyle changes - eating, exercising and other behaviors - but that too is just speculative,” Ginsburg explains. “As with many findings from genome-wide association studies, this one, too, falls into the category of very promising insights into biology but little to offer today for clinical practice.”