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September 28, 2020

Study Identifies New Genes That Link to Increased Risk of AAA

September 28, 2020—The American Heart Association (AHA) announced that a study identifying 14 new genes linked to an increased risk of abdominal aortic aneurysm (AAA) was published by Derek Klarin, MD, et al in Circulation. AHA stated that previous studies had detected 10 locations in the human genome associated with potential risks.

“This new information can enhance screening protocols and help identify individuals at risk for AAA,” commented the study’s senior investigator, Philip S. Tsao, MD, in the AHA announcement. Dr. Tsao is Professor of Cardiovascular Medicine at Stanford University School of Medicine and Director of the VA Palo Alto Epidemiology Research and Information Center for Genomics in Palo Alto, California.

According to AHA, the study investigators used the world’s largest genetic biobank, the Million Veteran Program, to test approximately 18 million DNA sequence variants among > 7,500 AAA cases and 172,000 veterans who did not have the condition. The Million Veteran Program was created in 2011 to study how genes affect the health of United States military veterans.

The study factored in the effects of blood pressure, finding that a genetic predisposition for an increase of 10 mm Hg in diastolic blood pressure increased the risk. Dr. Tsao stated, “We were surprised that diastolic blood pressure, as opposed to systolic blood pressure, is likely of greater significance in the development of AAA.”

The data also showed that 19 of the 24 genetic risk variants for the condition pointed to an increased risk for aneurysms in other parts of the body.

A polygenic risk score was created that helped identify groups of people more likely to develop AAA, regardless of known risk factors such as smoking and family history.

The investigators noted that findings are limited because the database primarily includes veterans of European ancestry. They advised that as genetic technology advances, studies should include more samples from people with diverse backgrounds to limit the chance of ethnic disparities in precision medicine, reported AHA in its announcement.

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