A new study has identified genetic variants that increase the risk of atherosclerosis, offering hope for early detection and improved treatment of cardiovascular diseases. This pivotal research, the largest gene mapping study using advanced diagnostic imaging, may revolutionize how we approach heart disease prevention and care.
In a landmark study, Swedish researchers have identified 20 genetic variants linked to an increased risk of atherosclerosis, a condition that can lead to heart attacks and strokes. This discovery, published in Nature Communications, is the most comprehensive gene mapping of atherosclerosis using advanced diagnostic imaging to date.
The research was conducted as part of the Swedish CArdioPulmonary BioImage Study (SCAPIS), one of Sweden’s largest population studies in the field of heart, vascular and lung disease.
It involved 30,000 randomly selected participants aged 50-64, who underwent exhaustive health examinations, including advanced diagnostic imaging techniques like computed tomography and ultrasound.
Atherosclerosis is a progressive disease where plaques form in blood vessels, potentially leading to blood clots that can cause sudden blood supply interruptions. If such clots occur in the coronary arteries, they result in heart attacks; in the carotid arteries, they may lead to strokes. Despite its severity, atherosclerosis often remains asymptomatic until a catastrophic event occurs.
“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,” lead researcher Anders Gummesson, an associate professor of molecular medicine at the University of Gothenburg and a senior physician in clinical at Sahlgrenska University Hospital, said in a news release.
The SCAPIS study’s extensive dataset allowed the researchers to scrutinize millions of genetic variants across the genome, focusing on those that have a significant association with atherosclerosis in the coronary arteries.
The results revealed 20 genetic variants that showed a statistically significant correlation, offering new insights into the mechanisms of the disease.
Notably, similar analyses of atherosclerosis in the carotid arteries were conducted.
Comparing these findings to the coronary artery results revealed several differences, hinting at varied underlying disease mechanisms. This nuanced understanding can help tailor prevention and treatment strategies more effectively.
“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,” added Gummesson.
The SCAPIS project, coordinated by the University of Gothenburg, represents a collaborative effort among six universities and six university hospitals across Sweden, with major funding from the Swedish Heart Lung Foundation.
As cardiovascular diseases remain the leading cause of death in Sweden and many countries worldwide, the study’s findings hold the promise of developing new genetic tests for early detection and personalized treatment plans, significantly impacting global strategies against cardiovascular diseases.
Source: University of Gothenburg

