Polymorphisms of adrenergic receptors: variations on a theme.

Recent studies have revealed that most of the adrenergic receptor genes are polymorphic, leading to changes in the amino sequence of the encoded receptor. The variations occur in multiple functional regions of the receptors, and appear as haplotypes with other coding and noncoding polymorphisms in their genes. The consequences of such genetic variability have been explored in recombinant cell-based systems and in human studies. Adrenergic receptor polymorphisms have been shown to alter receptor binding, G-protein coupling, regulation, and expression compared with their allelic counterparts. Here, the genetic and molecular characterization of these polymorphisms is reviewed, as well as their potential impact on pharmacogenetics, disease risk, and disease modification.