Charles A German1, Michael D Shapiro2. 1. Center for Prevention of Cardiovascular Disease, Section on Cardiovascular Medicine, Wake Forest University School of Medicine, Winston-Salem, NC, USA. 2. Center for Prevention of Cardiovascular Disease, Section on Cardiovascular Medicine, Wake Forest University School of Medicine, Winston-Salem, NC, USA. mdshapir@wakehealth.edu.
Abstract
PURPOSE OF REVIEW: The purpose of this review is to understand the conceptual basis and implications of polygenic risk scores (PRS) in assessing risk of future coronary artery disease (CAD). RECENT FINDINGS: Genetic information from the USA and beyond has been pooled together to create population-based biobanks, composed of millions of genotyped individuals, which have helped further our understanding of the relationship between single nucleotide polymorphisms (SNPs) and CAD. Contemporary PRS composed of millions of SNPs now serve as the gold standard and have been evaluated in several cohort studies to predict risk of CAD and potentially help guide pharmacotherapy. The development of PRS has enhanced our understanding of the relationship between genes and disease, thereby facilitating CAD risk prediction. While certain constraints currently limit their utility in clinical practice, further refinement of this tool will enable clinicians to more fully understand genetic risk and improve preventive care.
PURPOSE OF REVIEW: The purpose of this review is to understand the conceptual basis and implications of polygenic risk scores (PRS) in assessing risk of future coronary artery disease (CAD). RECENT FINDINGS: Genetic information from the USA and beyond has been pooled together to create population-based biobanks, composed of millions of genotyped individuals, which have helped further our understanding of the relationship between single nucleotide polymorphisms (SNPs) and CAD. Contemporary PRS composed of millions of SNPs now serve as the gold standard and have been evaluated in several cohort studies to predict risk of CAD and potentially help guide pharmacotherapy. The development of PRS has enhanced our understanding of the relationship between genes and disease, thereby facilitating CAD risk prediction. While certain constraints currently limit their utility in clinical practice, further refinement of this tool will enable clinicians to more fully understand genetic risk and improve preventive care.
Authors: Samuel S Gidding; Mary Ann Champagne; Sarah D de Ferranti; Joep Defesche; Matthew K Ito; Joshua W Knowles; Brian McCrindle; Frederick Raal; Daniel Rader; Raul D Santos; Maria Lopes-Virella; Gerald F Watts; Anthony S Wierzbicki Journal: Circulation Date: 2015-10-28 Impact factor: 29.690
Authors: Amit V Khera; Hong-Hee Won; Gina M Peloso; Kim S Lawson; Traci M Bartz; Xuan Deng; Elisabeth M van Leeuwen; Pradeep Natarajan; Connor A Emdin; Alexander G Bick; Alanna C Morrison; Jennifer A Brody; Namrata Gupta; Akihiro Nomura; Thorsten Kessler; Stefano Duga; Joshua C Bis; Cornelia M van Duijn; L Adrienne Cupples; Bruce Psaty; Daniel J Rader; John Danesh; Heribert Schunkert; Ruth McPherson; Martin Farrall; Hugh Watkins; Eric Lander; James G Wilson; Adolfo Correa; Eric Boerwinkle; Piera Angelica Merlini; Diego Ardissino; Danish Saleheen; Stacey Gabriel; Sekar Kathiresan Journal: J Am Coll Cardiol Date: 2016-04-03 Impact factor: 24.094