-Adrenoceptor polymorphisms

Abstract

There can be no doubt that β₁-, β₂- and β₃-adrenoceptor genes have genetic polymorphisms. Two single nucleotide polymorphisms have been described for the β₁- (Ser49Gly; Gly389Arg), three for the β₂- (Arg16Gly; Gln27Glu; Thr164Ile) and one for the β₃-adrenoceptor subtype (Trp64Arg) that might be of functional importance. The possibility that changes in expression or properties of the β-adrenoceptors due to single nucleotide polymorphisms might have phenotypic consequences influencing their cardiovascular or metabolic function or may contribute to the pathophysiology of several disorders like hypertension, congestive heart failure, asthma or obesity is an idea that has attracted much interest during the last 10 years. At present, it appears that these β-adrenoceptor polymorphisms are very likely not disease-causing genes, but might be risk factors, might modify disease and/or might influence progression of disease. The aim of this review is to provide an overview of the functional consequences of such β-adrenoceptor polymorphisms in vitro, ex vivo and in vivo.