title: The GNB3 C825T polymorphism as a pharmacogenetic marker in the treatment of hypertension, obesity, and depression.
abstract: Heterotrimeric guanine-binding proteins (G proteins) transmit signals from the cell surface to intracellular signal cascades. The β3-subunit encoded by the gene GNB3 is widely expressed and, therefore, involved in various physiological and pathophysiological processes. A C825T polymorphism located in exon 10 of GNB3 was described in 1998 and the T allele was associated with alternative splicing and with increased signal transduction in human cells and tissues. In several disease-association studies, the 825T allele could be linked to hypertension, obesity, and depression. Meta-analysis available for hypertension and depression confirmed association with these phenotypes. On the basis of these findings, subsequent studies investigated whether the C825T polymorphism serves as a pharmacogenetic marker. Most pharmacogenetic investigations have focused on the treatment of hypertension, obesity, and depression. In this study, we will comprehensively describe and discuss these studies.
authors.affiliation: Institut für Pharmakogenetik, Universität Duisburg-Essen, Hufelandstr, Essen, Germany. Stefanie.Klenke@uk-essen.de
authors.forename: Stefanie
authors.initials: S
authors.lastname: Klenke
authors.forename: Martin
authors.initials: M
authors.lastname: Kussmann
authors.forename: Winfried
authors.initials: W
authors.lastname: Siffert
mesh_terms: D054316:Biomarkers, Pharmacological; D003863:Depression / Q000188:drug therapy*; D005091:Exons; D005787:Gene Frequency; D006239:Haplotypes; D020962:Heterotrimeric GTP-Binding Proteins / Q000235:genetics*; D006801:Humans; D006973:Hypertension / Q000188:drug therapy*; D009765:Obesity / Q000188:drug therapy*; D020641:Polymorphism, Single Nucleotide
chemical_list: D054316:Biomarkers, Pharmacological; C454420:G-protein beta3 subunit; D020962:Heterotrimeric GTP-Binding Proteins