The Heart of the Matter: Discovery of new genetic loci for heart rate variability and its relationship with blood pressure and mortality

The results from the studies described in my thesis are based on big data basesand corroborate the role of environmental and genetic factors in influencingcardiac autonomic function indices. Age and sex were the most important factorsassociated with heart rate varaibility and baroreflex sensitivity confirming the need to be considered when studying these measures. In addition, I provide novel biological insights that broaden our understanding of biological pathways underlying heart rate variability with a potential role in cardiac vagal effects on the sinoatrial node. The newly discovered heart rate varaibility genes in this thesis play a key role in regulating cell-cell signaling in the heart and in cardiomyocyte function which may yield potential drug targets for cardiovascular diseases. Finally, the genetic markers for heart rate varaibility and heart response to exercise can be used as instrumental variables to test a potential causal role of the cardiac autonomic nervous system in cardiometabolic disease