Polygenic risk scores may predict CAD
Two genome-wide polygenic risk scores were able to predict prevalent CAD in patients, according to a study published in Circulation: Genomic and Precision Medicine.
“There is a lot of interest not only in the science arena, but also in the general community about using genetics to capture information about disease risk,” Guillaume Lettre, PhD, associate professor at the Montreal Heart Institute and Universite de Montreal, said in a press release. “This research is exciting, as genetic testing is becoming more powerful, affordable and easy, often requiring only a swab of one’s saliva.”
Florian Wünnemann, PhD, postdoctoral researcher at the Montreal Heart Institute, and colleagues analyzed data from three cohorts consisting of 3,639 patients with CAD and 7,382 controls. Researchers tested the power of two polygenic risk scores to predict incident, prevalent and recurrent CAD. A founder French-Canadian familial hypercholesterolemia deletion was also assessed in one of the cohorts to calibrate the polygenic risk scores.
Both polygenic risk scores were able to predict prevalent CAD (area under the curve = 0.72-0.89), which was consistent with original reports.
The scores were also able to identify 6% to 7% of patients with a risk for CAD similar to those who carried the founder French-Canadian familial hypercholesterolemia deletion.
The polygenic risk scores were not able to effectively predict incident or recurrent CAD (AUC = 0.56-0.6), which may have been associated with the statin therapy taken by 76% of patients.
“While it may still take some time before [polygenic risk scores] become widely applicable in the clinic to predict CAD, their utility is likely to increase as the community continues to improve methods and gain access to large [genome-wide association studies] carried out in populations of different ethnic backgrounds,” Wünnemann and colleagues wrote. “But true improvement in CAD prevention based on [polygenic risk scores] will only occur if the scientific progress is mirrored by an effort to explain the strengths and limitations of this new biomarker to the medical community and the general population.” – by Darlene Dobkowski
Disclosures: The authors report no relevant financial disclosures.