04:04pm Sunday 31 May 2020

13 Novel Genetic Components of Coronary Artery Disease Identified

PHILADELPHIA – An international analysis of 14 genome-wide association studies involving over 100,000 patients has identified 13 new genetic risk factors for coronary artery disease (CAD).

Muredach P. Reilly, MBBCH, MSCE, associate professor of Medicine, University of Pennsylvania School of Medicine, and colleagues played a central organizing role in the international consortium, CARDIoGRAM (Coronary Artery Disease Genome-wide Replication and Meta-analysis), that combined and analyzed data from all currently published genome-wide association studies (GWAS) on heart attack and CAD, as well as some unpublished data. The data include more than 22,000 patients, 60,000 healthy individuals, and 45,000 additional subjects, meaning CARDIoGRAM is ten times bigger than the largest previous study. By pooling all of the published and unpublished data, they sought to make discoveries that might have been overlooked. The study is published online this week in Nature Genetics.

“This very large international collaboration has doubled the number of new CAD and heart attack genes and provides major opportunities for better understanding of causes, advancing personalized risk assessment, and developing new treatments to prevent and treat heart disease,” said Reilly.

CAD is a common condition where the arteries supplying blood to the heart develop cholesterol rich plaques which can rupture suddenly causing a heart attack. CAD is a complex condition that has both genetic and lifestyle components.

In addition to identifying the 13 novel loci associated with CAD, the researchers also discovered that only a minority of the established and novel CAD genes act through traditional risk factors while the majority reside in gene regions that were not previously connected to heart disease. 



Penn Medicine is one of the world’s leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the University of Pennsylvania School of Medicine (founded in 1765 as the nation’s first medical school) and the University of Pennsylvania Health System, which together form a $4 billion enterprise. 

Penn’s School of Medicine is currently ranked #2 in U.S. News & World Report‘s survey of research-oriented medical schools and among the top 10 schools for primary care. The School is consistently among the nation’s top recipients of funding from the National Institutes of Health, with $507.6 million awarded in the 2010 fiscal year. 

The University of Pennsylvania Health System’s patient care facilities include: The Hospital of the University of Pennsylvania – recognized as one of the nation’s top 10 hospitals by U.S. News & World Report; Penn Presbyterian Medical Center; and Pennsylvania Hospital – the nation’s first hospital, founded in 1751. Penn Medicine also includes additional patient care facilities and services throughout the Philadelphia region.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2010, Penn Medicine provided $788 million to benefit our community.

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