Gene research decodes heart disease risk


New research sheds light on the role genetics plays in a person’s risk of heart disease.
New research sheds light on the role genetics plays in a person’s risk of heart disease.

There is hope new research examining the interplay between genes and heart disease risk will lead to better screening processes and treatment for Australia’s biggest killer.

Up to 60 per cent of risk associated with coronary heart disease may be explained by changes in the activity of hundreds of genes, as they work together in networks across several organs in the body.

In 2018, an average of two people died of CHD each hour, equating to 48 Australians every day, according to the Heart Foundation. 

“We have long suspected that the genes we inherit play a far larger role in our chances of developing conditions such as coronary heart disease, but until now we didn’t know just how these genes were working together,” Co-author Professor Jason Kovacic, Executive Director at the Victor Chang Cardiac Research Institute says.

“It turns out that there are vast and complex networks of genes at work, which are signalling to one another and for the first time we now have a comprehensive map of how they are operating.”

For patients, this could mean “far more accurate” prediction of a person’s risk, leading to earlier assessment and potentially better treatments.

Coronary heart disease is caused by thousands of genes interacting with other factors like smoking and obesity.

The work was led by senior author Dr Johan L.M. Björkegren, from Icahn School of Medicine at Mount Sinai, New York City.

Patients underwent open chest surgery for coronary heart artery bypass surgery or other medically indicated reasons, and tissue samples were collected and tested by researchers.

“We found that gene networks work like airplane traffic patterns. Just as a delay at one airport in a key state can disrupt flights in the entire nation, we found that a slight change in the activity of key genes in one tissue can disrupt the activity of other genes throughout the rest of the body,” said Dr. Bjorkegren said.

The results showed that up to an additional 60 per cent of the risk associated with coronary heart disease could be explained by 224 of these gene regulatory networks, and that many of these networks could help explain the disease severity in individual cases.

Of those networks, 135 were located within one type of tissue, whereas the remaining 89 represented coordinated gene activity across multiple tissues.

The multi-tissue networks appeared to have the greatest impact.

On average they could explain three times more of the disease risk than the single-tissue ones.

“This research will be central to the development of ‘precision medicine’ – where patients are diagnosed and treated depending on how their unique genetics interact with risk factors in the environment,” says Professor Kovacic.