Beta-adrenergic receptor polymorphisms: cardiovascular disease associations and pharmacogenetics

Abstract

The beta-adrenergic receptors (betaAR) play important roles in cardiovascular function and disease, and both agonists and antagonists are widely used in various settings for treatment of cardiovascular disease. Both the beta1AR and beta2AR genes have several polymorphisms that are common in the population and result in encoding of different amino acids. More importantly, in vitro functional studies suggest that these polymorphisms have functional significance. In this review we summarize the literature on the relationship between the betaAR polymorphisms and cardiovascular disease as well as the literature on the impact of these polymorphisms on drug response. Additionally, the polymorphisms in both the beta1AR and beta2AR genes are in linkage disequilibrium; thus, the relevance of single polymorphism vs. haplotype analysis is discussed. Further study of the betaAR genetic polymorphisms is likely to enhance our understanding of cardiovascular disease and improve our use of beta-agonists and beta-antagonists in treatment of cardiovascular disease.