Cardiovascular Disease

The ongoing studies of the genetics of cardiovascular disease consist of two general types: those that accumulate individual cases with the goal of performing association candidate-gene studies, and those that collect data from families (sibling pairs or extended families) with the idea of performing gene-linkage studies. Candidate-gene studies examine variations in genes that code for proteins that are likely to be involved in a disease or its prevention, such as genes controlling cholesterol metabolism or blood pressure. Linkage studies look for chromosome regions that are co-inherited with risk for disease, and then look carefully at the region to determine what genes are present.

Patients for both types of studies may be located in similar ways. Disease registry databases contain information on patients with particular conditions, which may have been collected by hospitals, charitable organizations, or research organizations. Clinical trials databases are generated during the testing of a new drug or other treatment. Population-based longitudinal studies collect data on a large number of randomly selected people (not just those with disease) and follow them over many years, to determine what factors lead to development of disease. Each study has its own contribution to make, and only through the combined efforts of multiple studies and approaches will we discover and understand the genetic contributions to the development of cardiovascular disease.