Influence of Polygenic Background on the Clinical Presentation of Familial Hypercholesterolemia.

Mark TrinderLubomira CermakovaIsabelle Ruel Alexis Baass Martine Paquette Jian WangBrooke A KennedyRobert A Hegele Jacques Genest Liam R Brunham

Published in: Arteriosclerosis, thrombosis, and vascular biology (2024)

Genetic background, as expressed by genome-wide PRSs for CAD, LDL-C, and lipoprotein(a), influences the phenotypic severity of FH, expanding our understanding of the determinants that contribute to the variable expressivity of FH. A PRS for CAD may aid in risk prediction among individuals with FH.

Keyphrases

genome wide
coronary artery disease
dna methylation
copy number
low density lipoprotein
gene expression