ABSTRACT

Cardiovascular disease (CVD), including stroke, is the leading cause of illness and death

worldwide, and is eminently preventable. Genetic studies have demonstrated that in most

cardiovascular conditions, specific inherited polymorphisms can influence the therapeutic

response. Moreover, it is apparent that there is considerable interindividual variation in

the effectiveness of cardiovascular system drugs. These differences are due to both

environmental factors (e.g., salt intake, smoking) and genetic variation. Ultimately, they

result in abnormalities in gene expression (over-, under-, zero-, or defective production

of an enzyme) that yield phenotypic changes that are of pathological significance in

such disorders as hypertension, atherosclerosis, coronary heart disease, myocardial infarc-

tion, and arterial stiffness. Molecular genetic studies have also identified defects in ion

channels, contractile or structural proteins, and signaling molecules that play a role in

disease pathogenesis.