Article
PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting.
Clinical pharmacology and therapeutics - 1 Dec 2023
Turner Amy J, Nofziger Charity, Ramey Bronwyn E, Ly Reynold C, Bousman Chad A, Agúndez José A G, Sangkuhl Katrin, Whirl-Carrillo Michelle, Vanoni Simone, Dunnenberger Henry M, Ruaño Gualberto, Kennedy Martin A, Phillips Michael S, Hachad Houda, Klein Teri E, Moyer Ann M, Gaedigk Andrea
Abstract excerpt
The Pharmacogene Variation Consortium (PharmVar) provides nomenclature for the highly polymorphic human CYP2D6 gene locus and a comprehensive summary of structural variation. CYP2D6 contributes to the metabolism of numerous drugs and, thus, genetic variation in its gene impacts drug efficacy and safety. To accurately predict a patient's CYP2D6 phenotype, testing must include structural variants including gene...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.