This genetic risk score may help health care providers identify the risk of heart disease earlier and take preventive measures. 

Vibhu Parcha, MD, first author of this study and a clinical research fellow in the Division of Cardiovascular Diseases and the UAB Cardiogenomics Clinic.

According to the Centers for Disease Control and Prevention, more than 37 million Americans have diabetes, and approximately 90-95% of them have Type 2 diabetes. Individuals with Type 2 diabetes are at an increased risk of poor cardiovascular outcomes, leading to an estimated $37.3 billion a year in heart disease-associated care.

A new study involving two researchers from the University of Alabama at Birmingham Division of Cardiovascular Disease states that a genetic score can predict the likelihood of high blood pressure and its connection to poor cardiovascular outcomes in people with Type 2 diabetes.

The study, published today in the American Heart Association’s peer-reviewed journal titled Hypertension, could play a pivotal role in guiding treatment for people who are newly diagnosed with Type 2 diabetes or those with prediabetes. In this study, researchers explored whether genetic variants linked with high blood pressure are connected to the risk of heart disease or stroke for people with Type 2 diabetes.

“Identifying the genetic risk of high blood pressure among newly diagnosed patients with diabetes may help with more targeted efforts to prevent the development of heart-related events in the future,” said Pankaj Arora, MD, associate professor in the UAB Marnix E. Heersink School of Medicine’s Division of Cardiovascular Disease and the director of the UAB Cardiogenomics Clinic. “In the current era of precision medicine, we want to find the individualized approach of understanding the risk of heart disease in a person newly diagnosed with diabetes. This allows focusing our clinical efforts in preventing the occurrence of fatal heart events through a personalized approach based on their genetic risk.”

Researchers analyzed the health records of 6,335 participants from the Action to Control Cardiovascular Risk in Diabetes trial database. Thirty percent of participants were racial minorities, and 37% of participants were women. Each candidate had Type 2 diabetes and elevated blood pressure.

They reviewed multiple health factors including blood pressure, cholesterol and blood sugar levels — all commonly used to determine a person’s risk for heart disease — and reviewed their age, sex, body mass index, medical history and genetic history, among other factors. Through their analysis, researchers established a genetic “risk score,” which estimates a person’s chance of developing heart disease within the next 10 years.

To develop this risk score, researchers used a genetic variant map of more than 1,000 common genetic variants known to affect blood pressure and compared it to the DNA of study participants to determine their genetic risk. More matches between a participant’s DNA and these genetic variants would mean a higher genetic risk score.

Pankaj Arora, MD associate professor in the UAB Division of Cardiovascular Disease and the director of the UAB Cardiogenomics Clinic.

“Commonly occurring changes in our DNA form the composite genetic risk score for an individual,” said Vibhu Parcha, MD, first author of this study and a clinical research fellow in the Division of Cardiovascular Diseases and the UAB Cardiogenomics Clinic. “Since we are born with these commonly occurring DNA changes, we carry the risk for heart conditions conferred by them throughout our lifetime. We were curious to understand whether a high genetic risk score for blood pressure would help us identify individuals with diabetes who are at a higher risk of fatal heart events.”

Researchers found that the genetic risk score identified study participants with a higher risk of cardiovascular events. This genetic score may help identify the risks for diseases earlier and allow doctors to take preventive measures among people with Type 2 diabetes.

“This study represents a step toward personalized medicine for heart disease that stems from Type 2 diabetes and high blood pressure,” said David Goff, M.D., Ph.D., director of the Division of Cardiovascular Sciences at the National Heart, Lung, and Blood Institute, part of the National Institutes of Health.

Other authors involved in the study are Akhil Pampana, M.S.; Adam Bress, PharmD, MS; Marguerite R. Irvin, PhD; and Garima Arora, MD.

“We look forward to future studies to confirm and build on these findings,” said Goff, who is not a member of the current study team. “Studies such as this with diverse populations could also help inform efforts to reduce health disparities associated with heart disease. Future studies might also test whether interventions guided by this type of knowledge are more effective than current strategies.”