Scientists identify genes responsible for coronary heart disease

The findings also offers hope for people living with other vascular diseases, like migraine.

Chris Arnold 4 minute read February 18, 2022
Steam punk heart module

PHACTR1 is a binding protein that is highly expressed in the brain and controls body systems such as metabolism, muscle contraction, and cell progression. GETTY

Scientists from the Icahn School of Medicine at Mount Sinai in New York have identified genes that may cause heart attacks and coronary disease. 

Researchers from the New York City health system, with assistance from other scientists from both the United States and Europe, found 162 total genes that were found to increase risk of heart attacks.They published their findings in the journal Circulation: Genomic and Precision Medicine.

“Firstly, we have now more accurately defined the precise genes that are likely to cause coronary heart disease,” Jason Kovacic, executive director of the Victor Chang Cardiac Research Institute at Icahn and lead author of the study, said in a release. “Second, we’ve identified exactly where in the body the main effect of those genes is — it might be in the heart arteries themselves that directly cause blockages, or perhaps the effect is in the liver to increase cholesterol levels, or in the blood to change inflammation. The third major achievement was to rank those genes — 162 in total — in order of priority for causing coronary heart disease.”

There are genes listed in the study that have never been researched in the context of heart attacks, Kovacic says. 

A total of 600 patients with coronary disease, and an additional 150 who do not have coronary disease, were included in the study. Each of the 750 total patients had coronary heart artery bypass surgery for a variety of reasons. The researchers used Minerva — a supercomputer at Mount Sinai developed in 2013 — to analyze information on the thousands of genes collected from hundreds of patients. 

Minerva’s data allows the researchers to target the critical genes that cause heart attacks, Kovacic says. There is also potential that thanks to the information gathered by Minerva, patients could be provided with new drugs to help with their conditions. 

“Another important aspect of this study was that one of our previously suspected top genes — PHACTR1 — was validated as being among the top two genes for causing coronary heart disease,” Kovacic says.

PHACTR1 is a binding protein that is highly expressed in the brain and controls body systems such as metabolism, muscle contraction, and cell progression.

“We are very actively studying PHACTR1 in my lab as we know it causes not only coronary heart disease, but also a whole range of other vascular diseases including migraine, fibromuscular dysplasia and spontaneous coronary artery dissection.” 

Margaret Kilby, a woman mentioned in the press release and who has had four heart attacks, says she hopes research like this can raise awareness for people who may be at risk for heart attacks. 

Kilby tested her own genes after her first heart attack, and found that she had inherited a condition called hypercholesterolemia, which gave her high cholesterol from birth. 

Hypercholesterolemia is known to cause heart attacks and strokes as much as 30 years earlier than what is considered normal. 

“If this new research leads to improved accuracy of genetic tests, that will also encourage more people to find out whether they are at risk, which is just fantastic,” Kilby says. 

Kilby, whose family has a history of heart conditions — her father died of a heart attack at just 42 years old — had her son tested when he was 15, after a doctor’s recommendation. Luckily, he does not have hypercholesterolemia. 

“I’ll be on medication for life,” Kilby said in a supplementary statement. “I also have to look after myself really well with exercise and an extremely good diet. Doctors do say the genes override diet in my case, but I still do try to be really strict with that because if it can help in any way to stop future heart attacks, that can only be a good thing.”

Chris Arnold is a Toronto-based writer.
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