Northeastern researchers have identified a genetic link to a well-known heart condition that could help patients avoid amputations
Peripheral artery disease affects 12 million Americans. Northeastern researchers found 38 genetic variants linked to higher amputation risk.
Physicians may one day be able to identify which patients with peripheral artery disease are most likely to develop complications and intervene earlier, thanks to a Northeastern University discovery.
Peripheral artery disease is a common condition in which arteries found in the legs, arms and pelvis are partially or completely obstructed as a result of plaque buildup.
A serious complication of the disease is limb loss, and approximately 150,000 leg amputations are performed in the U.S. as a result every year, according to the American Heart Association.
But doctors can’t yet predict which of the approximately 10 million to 12 million people in America who have peripheral artery disease will need an amputation.
New research published in the International Journal of Molecular Sciences has found, however, that patients most susceptible to limb amputations may share similar genomic traits.
While more testing and verification need to be done to validate their findings, the Northeastern researchers’ insights could help physicians develop tests to determine the likelihood of a patient losing a limb if diagnosed with peripheral artery disease, according to Saeed Amal, a Northeastern University research professor of bioengineering based in the Roux Institute and one of the co-authors of the paper.
“This is powerful because you won’t have to wait for symptoms,” Amal said, noting that oftentimes when peripheral artery disease patients start complaining about pains in their arms and legs, it’s too late to save their limbs. “It will allow us to give treatment before the patients start suffering and could basically prevent amputation.”
Research on peripheral artery disease so far has shown that risk factors such as smoking and poor diet can lead to a peripheral artery disease diagnosis, but scientists are still working to understand what role genetics play in the onset and progression of the disease, explained Amal.
To better understand those factors, Amal and his co-researchers performed what is known as a genome-wide association study, or GWAS. According to the National Institute of Health (NIH), the method involves surveying medical databases of patients’ DNA and looking for specific genomic variants that only those with a specific disease might be carrying and comparing them to those without the disease.
The researchers analyzed thousands of patient files provided by NIH’s All of Us Research Program, the agency’s large data set initiative to collect health information from thousands of willing residents across the country to advance targeted health care treatments.
In their analysis, the researchers found 38 suggestive genetic variations, which are unique characteristics in someone’s DNA, suggesting a potentially increased chance of a patient having a serious enough case of peripheral artery disease that might mean losing their limbs These variants were already known to be associated with a number of important functions in the body, including the structure of blood vessels and capillaries and inflammatory regulation, the reserachers observed.
Michael Wilczek, a Northeastern professor of biotechnology and bioinformatics who assisted Amal on the development and validation of the data sets, noted that this research “lays the foundation” for more targeted healthcare treatments for peripheral artery disease patients.
He added university’s collaboration with the NIH’s All of Us Program are “critical for tailoring disease prevention and treatment” and for advancing precision medicine, an approach where an individual’s health care plan is highly targeted and specific based on their own personal data.
At the same time, Amal noted that there are real limitations with the study.
One of the biggest ones is that researchers didn’t have access to other data sets from other institutes to validate their findings. They only had access to the NIH’s data for the study, Amal said, meaning the results have not yet proven to be generalizable.
In future studies, Amal said he will work with his collaborators at the University of California’s San Diego Health hospital system and validate what his team found using data from the university’s foot and ankle care center.
“We will look at the database of their patients, look at their genetics, and see if we will be able to predict [which] patients will have an amputation,” he said.
But they won’t stop there. They also hope to collaborate with other major healthcare providers throughout the country, including Maine Medical Center, and MedStar Georgetown University Hospital, he said.
“This will enable personalized interventions,” Amal said of the research and its implications. “We want to provide medications or procedures that will prevent amputations.”
