Polygenic risk scores in coronary artery disease

PURPOSE OF REVIEW: Recent advances in genetics have facilitated the calculation of polygenic risk scores (PRSs) based on common genetic risk variants of coronary artery disease (CAD). Here, we provide an explanation of the genetic basis for PRSs and review recent literature investigating PRSs and the clinical utility for different aspects of CAD.

RECENT FINDINGS: CAD-based PRSs are strongly associated with atherosclerosis burden in the coronary arteries and other vascular beds. In multiple studies, PRSs have proven to be a measure of CAD risk, more powerful than most established risk factors alone, that can be used from early life to stratify individuals into varying trajectories of lifetime risk. When implemented in risk stratification models for primary prevention of cardiovascular disease, PRSs provide modest improvements in discrimination (C-index generally increasing 0-4% points) and reclassification, but yield significant clinical benefit as a risk enhancer. Additionally, data suggest possible value of PRSs for aiding decisions in other aspects of diagnostics and treatment in CAD.

SUMMARY: Once genotyped, the genetic information may be used to calculate an infinite number of PRSs and contribute to personalize medicine providing clinical value for risk stratification, diagnostics and treatment in CAD as well as in other diseases.