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Vibhu Parcha, M.D., and Pankaj Arora, M.D.
Vibhu Parcha, M.D., and Pankaj Arora, M.D. (Photography: Andrea Mabry)

Nearly half of all American adults have elevated blood pressure or hypertension. High blood pressure contributes to 65 percent of cardiovascular deaths in the United States. Exponential advances in genomic sequencing technology have enabled scientists to read the 3.4 billion letters that make up an individual’s DNA in a short period of time and utilize this information for research purposes.

Researchers are now using the information from a patient’s DNA to identify their genetic risk of developing hypertension and potentially fatal cardiovascular events over a lifetime — a concept known as precision medicine.  

A recent study led by investigators at the University of Alabama at Birmingham Division of Cardiovascular Disease, published in the American Heart Association’s journal Circulation: Genomics & Precision Medicine, could play a pivotal role in the era of precision cardiovascular medicine.

This study utilized genomic information from nearly half a million individuals from multiple racial and ethnic backgrounds to create a blood pressure “genetic risk score” that captures an individual’s genetic risk for high blood pressure.

“Commonly occurring changes in our DNA form the composite genetic risk score for hypertension in an individual,” said Vibhu Parcha, M.D., first author of the study and researcher at the UAB Division of Cardiovascular Disease. “Since we are born with these commonly occurring DNA changes, we carry the risk for hypertension and heart conditions throughout our lifetime, and genetic risk score determines this.”

The investigator team applied this score to over 21,000 American adult research participants who contributed to the Trans-Omics for Precision Medicine, or TOPMed, program, sponsored by the National Institutes of Health and National Heart, Lung and Blood Institute as part of the Precision Medicine Initiative. They found that the genetic risk score identified individuals at a higher risk of hypertension and was able to predict an individual’s risk of developing heart failure, stroke and heart attacks even when accounting for their traditional cardiovascular risk factors such as obesity, smoking, diabetes, lipid profile and blood pressure. This genetic risk score also provides an improvement in the prediction of an individual’s risk of these fatal events, especially among younger individuals.

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