Beta2-adrenoceptor polymorphisms: relation between in vitro and in vivo phenotypes |
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Authors: | Leineweber Kirsten Brodde Otto-Erich |
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Affiliation: | Departments of Pathophysiology and Nephrology, University of Essen School of Medicine, IG I., 9.OG, Hufelandstr. 55, D-45147, Essen, Germany. kirsten.leineweber@uni-essen.de |
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Abstract: | Beta2-adrenoceptors are expressed in many cell types throughout the body and play a pivotal role in the regulation of the cardiac, pulmonary, vascular, endocrine and central nervous system. Recent studies have discovered that Beta2-adrenoceptor are polymorphic. Three common polymorphisms appear to influence receptor function: Arg16Gly, Gln27Glu, and Thr164Ile. In vitro studies of agonist-stimulation have shown that the Gly16 Beta2-adrenoceptors demonstrate enhanced agonist-promoted down-regulation, while Glu27 variants seem to be resistant. The Ile164 variant, on the other hand, demonstrates decreased responsiveness to agonist stimulation in vitro. However, the functional relevance and phenotypic consequence of such Beta2-adrenoceptor variants in vivo is still unclear. The aim of this review is therefore to provide an overview about the somewhat controversy in vitro, ex vivo and in vivo studies. |
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Keywords: | β2-adrenoceptor Single nucleotide polymorphism Linkage disequilibrium Genotype Haplotype Phenotype |
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