The Genetics of Cardiovascular Disease: From Epidemiology to Clinical Practice

Abstract

Chapter 1 contains a GWAS of QRS duration, a measure of ventricular depolarization and conduction, in 15,124 Hispanic/Latino individuals from four studies. We identified six loci associated with QRS (P<5x10-8), including two novel loci: MYOCD, a nuclear protein expressed in the heart, and SYT1, an integral membrane protein. Chapter 2 demonstrates the strong association of a genetic risk score (GRS) with ischemic stroke in European-ancestry participants with atrial fibrillation from the UK Biobank study (n=21,185). The GRS was independent of clinical risk factors. Including the GRS in clinical risk models may better identify individuals who could benefit from anticoagulation. Chapter 3 uses the example of the clinical practice guidelines concerning competitive sports participation of young athletes with long QT syndrome to demonstrate the challenges in using genetic data to deliver effective precision medicine.