Browsing by Author "Duconge, Jorge"

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    PharmVar GeneFocus: CYP2C19
    (Wiley, 2021) Botton, Mariana R.; Whirl-Carrillo, Michelle; Del Tredici, Andria L.; Sangkuhl, Katrin; Cavallari, Larisa H.; Agúndez, José A.; Duconge, Jorge; Lee, Ming Ta Michael; Woodahl, Erica L.; Claudio-Campos, Karla; Daly, Ann K.; Klein, Teri E.; Pratt, Victoria M.; Scott, Stuart A.; Gaedigk, Andrea; Medicine, School of Medicine
    The Pharmacogene Variation Consortium (PharmVar) catalogues star (*) allele nomenclature for the polymorphic human CYP2C19 gene. CYP2C19 genetic variation impacts the metabolism of many drugs and has been associated with both efficacy and safety issues for several commonly prescribed medications. This GeneFocus provides a comprehensive overview and summary of CYP2C19 and describes how haplotype information catalogued by PharmVar is utilized by the Pharmacogenomics Knowledgebase and the Clinical Pharmacogenetics Implementation Consortium (CPIC).
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    PharmVar GeneFocus: CYP2C9
    (Wiley, 2021-09) Sangkuhl, Katrin; Claudio‐Campos, Karla; Cavallari, Larisa H.; Agundez, Jose A.G.; Whirl‐Carrillo, Michelle; Duconge, Jorge; Del Tredici, Andria L.; Wadelius, Mia; Rodrigues Botton, Mariana; Woodahl, Erica L.; Scott, Stuart A.; Klein, Teri E.; Pratt, Victoria M.; Daly, Ann K.; Gaedigk, Andrea; Medical and Molecular Genetics, School of Medicine
    The Pharmacogene Variation Consortium (PharmVar) catalogues star (*) allele nomenclature for the polymorphic human CYP2C9 gene. Genetic variation within the CYP2C9 gene locus impacts the metabolism or bioactivation of many clinically important drugs including NSAIDs, phenytoin, anti-diabetic agents and angiotensin receptor blocker. Variable CYP2C9 activity is of particular importance regarding efficacy and safety of warfarin and siponimod as indicated in their package inserts. This GeneFocus provides a comprehensive overview and summary of CYP2C9 and describes how haplotype information catalogued by PharmVar is utilized by the Pharmacogenomics Knowledgebase (PharmGKB) and the Clinical Pharmacogenetics Implementation Consortium (CPIC).