Genetics and Cardiovascular Disease: Are We Getting to the Heart of the Matter?
Human genetics has provided important insights to the pathogenesis, prevention and treatment of coronary heart disease (CHD). Elucidation of genetic defects causing Mendelian disorders associated with premature CHD provided our first molecular handle on key risk factors. Classical epidemiological studies have taught us a tremendous amount about CHD risk factors, but such studies cannot determine whether an association, no matter how strong or reproducible, is causal or whether it is simply correlative. Stratifying populations based on genotype, rather than phenotype, obviates many problems inherent in epidemiological associations. Such studies have revealed new genes and sequence variations conferring susceptibility to CHD and have provided new insights into the mechanistic basis for several risk factors associated epidemiologically with CHD.
Perhaps the most neglected factor in estimating CHD risk has been the variable of time. Two aspects of our work will be presented: 1) How modest changes in lipid levels sustained over a lifetime have profound consequences for human health, and 2) How new strategies can be devised to prevent complex diseases such as CHD.
- © 2010 by American Heart Association, Inc.