Abstract 15195: Utility of a Polygenic Risk Score for Dilated Cardiomyopathy in the General Population

• Published in: Circulation (New York, N.Y.) N.Y.), 2023-11, Vol.148 (Suppl_1)
• Main Authors: Paldino, Alessia, Figueiral, Marta, Vyas, Hridyanshu, Jenkins, Gregory, Scott, Christopher, Klee, Eric, Rodeheffer, Richard J, Medina-Inojosa, Jose R, Redfield, Margaret M, Burnett, John C, Lopez-Jimenez, Francisco, sinagra, Gianfranco, Merlo, Marco, Pereira, Naveen L
• Format: Article
• Language: English
• ISSN: 0009-7322; 1524-4539
• DOI: 10.1161/circ.148.suppl_1.15195

Abstract only Introduction: Common genetic variation has been linked to an increased risk of developing dilated cardiomyopathy (DCM). However, the phenotypic profile, outcomes, and biological mechanisms by which such genetic background may predispose individuals to DCM are still unknown. Hypothesis: The primary objectives of this study were to develop a DCM polygenic risk score (PRS) based on prior case control-DCM GWAS and to apply this PRS to a well clinical characterized general population. Methods: The DCM-PRS was derived from 13 DCM risk alleles that were assayed in an unselected cohort (n=1897) of unrelated Olmsted County residents age >45 years who did not have a history of heart failure (HF) or CM and underwent physical examination, echocardiography, and blood analyses. Results: The entire population was equally divided into quartiles based on the DCM-PRS. No significant differences were present in terms of age (median 62 years) and sex (48% male). However, a significant correlation was detected between the DCM-PRS and left ventricle ejection fraction (LVEF) (Beta: -2.68, p