Extensive mapping of genes behind cardiovascular disease

Swedish researchers have identified genetic variants that increase the risk of atherosclerosis. The aim is for these new findings to enable earlier detection of atherosclerosis and improved treatment of cardiovascular diseases such as heart attack and stroke.

The study, published in the journal Nature Communications, represents the largest gene mapping of atherosclerosis using advanced diagnostic imaging to date. The researchers behind the study are based at universities and university hospitals throughout Sweden.

Atherosclerosis is the disease process that causes plaque to form in the blood vessels supplying the body's organs with blood. These accumulations of plaque grow over time and can form clots that cause a sudden stop in the blood supply.

If this happens in the coronary arteries of the heart, the heart muscle suffers acute oxygen deprivation, causing a heart attack. If it occurs with plaque formed in the carotid arteries, the clot can be carried by the blood to the brain and cause a stroke.

Twenty genetic variants pinpointed

The study is based on data from the SCAPIS population study, the largest in Sweden in the field of heart, vascular, and lung disease, encompassing 30,000 randomly selected Swedes aged 50–64 years who underwent comprehensive health exams. What sets SCAPIS apart is the highly detailed measurements of atherosclerosis using advanced diagnostic imaging, including both computed tomography and ultrasound.

This enabled the researchers to examine several million genetic variants, spread throughout the genome, regarding their impact on the risk of atherosclerosis in the coronary arteries, which can cause heart attacks. Twenty genetic variants were found to have a statistically significant association.

The study also included similar analyses of atherosclerosis of the carotid arteries, which can lead to stroke. When the coronary and carotid results were compared, several differences emerged, suggesting different underlying disease mechanisms.

Input for better understanding

The lead researcher in the study is Anders Gummesson, Associate Professor of Molecular Medicine at the University of Gothenburg and Senior Physician in Clinical Genetics at Sahlgrenska University Hospital:

"The study is an important piece of the puzzle in understanding why atherosclerosis develops, which could ultimately lead to new ways of preventing the disease process. We also hope to develop genetic tests to identify people at high risk of being affected," he explains.

Atherosclerosis is common, and even relatively advanced atherosclerosis can be completely asymptomatic. For many of those who suffer a heart attack or stroke, it comes without warning. Cardiovascular disease is the leading cause of death in Sweden and most other countries.

"The results provide us with important knowledge, and the entire dataset, containing results from millions of genetic variants, will be available to other researchers around the world to use in their research," says Anders Gummesson.SCAPIS (Swedish CArdioPulmonary BioImage Study) is led and conducted by six universities and six university hospitals across Sweden, in close collaboration with the Swedish Heart Lung Foundation, which is the main funder. The project is coordinated at the University of Gothenburg.