title: Beta2-adrenoceptor gene polymorphisms.
abstract: Beta2-adrenoceptors (AR) play an important role in regulation of vascular and bronchial smooth muscle tone; functional beta2-AR, however, also exist in human heart where they can mediate positive inotropic and chronotropic effects. Recent studies have discovered that beta2-AR are polymorphic. The most common single nucleotide polymorphisms (SNPs) are: Arg16Gly, Gln27Glu, Thr164Ile in the coding region, and Arg-19Cys in the 5' upstream peptide. These SNPs affect receptor function in vitro; however, conflicting data exist on their functional relevance in vivo. This might be due to the fact that the four SNPs in the 5' upstream peptide and in the coding region, respectively, are linked and form certain haplotypes. This review gives an overview on the contribution of beta2-AR polymorphisms to cardiovascular diseases or altered drug responses. In addition, the relevance of SNPs vs. haplotypes for beta2-AR functional responsiveness is discussed.
authors.affiliation: Department of Pathophysiology, University of Essen School of Medicine; D-45147 Essen/Germany. otto-erich.brodde@uni-essen.de
authors.forename: Otto-Erich
authors.initials: OE
authors.lastname: Brodde
authors.forename: Kirsten
authors.initials: K
authors.lastname: Leineweber
mesh_terms: D000318:Adrenergic beta-Agonists / Q000494:pharmacology; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide; D018343:Receptors, Adrenergic, beta-2 / Q000235:genetics*
chemical_list: D000318:Adrenergic beta-Agonists; D018343:Receptors, Adrenergic, beta-2