Institut für Pharmakogenetik, Universität Duisburg-Essen, Hufelandstr, Essen, Germany.
Pharmacogenet Genomics. 2011 Sep;21(9):594-606. doi: 10.1097/FPC.0b013e3283491153.
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.
三聚体鸟嘌呤核苷酸结合蛋白（G 蛋白）将信号从细胞膜传递到细胞内信号级联。由基因 GNB3 编码的 β3 亚基广泛表达，因此参与各种生理和病理生理过程。1998 年描述了位于 GNB3 外显子 10 中的 C825T 多态性，T 等位基因与人类细胞和组织中的可变剪接和信号转导增加有关。在几项疾病关联研究中，825T 等位基因与高血压、肥胖和抑郁症有关。可用于高血压和抑郁症的荟萃分析证实了与这些表型的关联。基于这些发现，随后的研究调查了 C825T 多态性是否作为药物遗传学标志物。大多数药物遗传学研究都集中在高血压、肥胖和抑郁症的治疗上。在这项研究中，我们将全面描述和讨论这些研究。
