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SNPs in genes encoding G proteins in pharmacogenetics

期刊

PHARMACOGENOMICS
卷 12, 期 5, 页码 633-654

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FUTURE MEDICINE LTD
DOI: 10.2217/PGS.10.203

关键词

GNAQ; GNAS; GNB3; G protein; pharmacogenetics; polymorphism

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Heterotrimeric guanine-binding proteins (G proteins) transmit signals from the cell surface to intracellular signal cascades and are involved in various physiological and pathophysiological processes. Polymorphisms in the genes GNB3 (encoding the G beta 3 subunit), GNAS (encoding the G alpha s subunit) and GNAQ (encoding the G alpha q subunit) have been the primary focus of investigation. Polymorphisms in these genes could be associated with different complex phenotypes underlining that alterations in G-protein signaling can cause multiple disorders. G proteins present a point of convergence or ` bottleneck' between various receptors and effectors, thus making them a sensible tool for pharmacogenetic studies. The pharmacogenetic studies performed to date mostly demonstrate an association between G-protein polymorphisms and response to therapy or occurrence of adverse drug effects. Therefore, polymorphisms in genes encoding G-protein subunits may help to individualize drug treatment in various diseases with regard to both efficacy and safety.

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