Abstract 12277: Concordance of High Polygenic CAD Risk Score With High Coronary Artery Calcium Score & Low Polygenic CAD Risk Score With Low Coronary Artery Calcium Score: A Real World Experience

Abstract

Introduction: Genetic predisposition for CAD is well established. Polygenic risk scores are emerging as tools which attempt to quantify the genomic component of an individual’s risk for CAD. However, clinical utility for individual risk stratification is unclear. Hypothesis: 180 SNPs previously identified in Caucasian Genome Wide-Association Studies for CAD were used to construct a weighted restricted polygenic risk score (PRS; normalized range 11.18 -17.58). This study hypothesizes that high PRS (>=85th percentile) is associated with high (>400) coronary artery calcium (CAC) score, & a low PRS(< 85th percentile) is associated with low (<100) CAC. Methods: Between January 2018 and March 2020, 21,784 patients underwent CAC screening and/or PRS testing. Caucasian patients with both PRS and CAC scores were reviewed. Patients with CAC 100-400 were excluded. Fisher’s exact test for high/low PRS and high/low CAC was utilized. Results: 2,752 patients were identified to have low (<100) or high (>400) CAC; 306 (11.1%) had a high CAC (table 1). Odds ratio of high PRS associated with high CAC and low PRS associated with low CAC was 1.54 (95% CI: 1.07-2.19; p=0.017). Conclusion: Our real-world experience in a Caucasian cohort shows that high PRS is associated with a high CAC, as is a low PRS with low CAC. Concordance between PRS and CAC lends support for incorporating PRS in the clinical setting, especially for early identification of individuals at high risk for CAD. Larger, ethnically diverse studies are needed.