Browsing by Subject "Cytochrome P-450 CYP2C9"

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    Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C9 and HLA-B Genotype and Phenytoin Dosing
    (Nature Publishing Group, 2014-11) Caudle, Kelly E.; Rettie, Allan E.; Whirl-Carrillo, Michelle; Smith, Lisa H.; Mintzer, Scott E.; Lee, Ming Ta Michael; Klein, Teri E.; Callaghan, J. Thomas; Department of Neurology, IU School of Medicine
    Phenytoin is a widely used antiepileptic drug with a narrow therapeutic index and large inter-patient variability partly due to genetic variations in CYP2C9. Furthermore, the variant allele HLA-B*15:02 is associated with an increased risk of Stevens-Johnson syndrome and toxic epidermal necrolysis in response to phenytoin treatment. We summarize evidence from the published literature supporting these associations and provide recommendations for the use of phenytoin based on CYP2C9 and/or HLA-B genotype (also available on PharmGKB: www.pharmgkb.org).
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    Recommendations for Clinical Warfarin Genotyping Allele Selection
    (Elsevier, 2020-07) Pratt, Victoria M.; Cavallari, Larisa H.; Del Tredici, Andria L.; Hachad, Houda; Ji, Yuan; Kalman, Lisa V.; Ly, Reynold C.; Moyer, Ann M.; Scott, Stuart A.; Whirl-Carrillo, Michelle; Weck, Karen E.; Medical and Molecular Genetics, School of Medicine
    The goal of the Association for Molecular Pathology (AMP) Clinical Practice Committee's AMP Pharmacogenomics (PGx) Working Group is to define the key attributes of PGx alleles recommended for clinical testing and a minimum set of variants that should be included in clinical PGx genotyping assays. This document series provides recommendations for a minimum panel of variant alleles (tier 1) and an extended panel of variant alleles (tier 2) that will aid clinical laboratories when designing assays for PGx testing. The AMP PGx Working Group considered functional impact of the variants, allele frequencies in multiethnic populations, the availability of reference materials, as well as other technical considerations for PGx testing when developing these recommendations. The ultimate goal is to promote standardization of PGx gene/allele testing across clinical laboratories. These recommendations are not to be interpreted as prescriptive but to provide a reference guide. Of note, a separate article with recommendations for CYP2C9 allele selection was previously developed by the PGx Working Group that can be applied broadly to CYP2C9-related medications. The warfarin allele recommendations in this report incorporate the previous CYP2C9 allele recommendations and additional genes and alleles that are specific to warfarin testing.