Abstract:
Human genetic variation in the form of single nucleotide polymorphisms as well as more complex structural
variations such as insertions, deletions and copy number variants, is partially responsible for the clinical variation
seen in response to pharmacotherapeutic drugs. This affects the likelihood of experiencing adverse
drug reactions and also of achieving therapeutic success. In this paper, we review key studies in cardiovascular
pharmacogenetics that reveal genetic variations underlying the outcomes of drug treatment in cardiovascular
disease. Examples of genetic associations with drug efficacy and toxicity are described, including the
roles of genetic variability in pharmacokinetics (e.g. drug metabolizing enzymes) and pharmacodynamics
(e.g. drug targets). These findings have functional implications that could lead to the development of genetic
tests aimed at minimizing drug toxicity and optimizing drug efficacy in cardiovascular medicine.
