Challenges in CYP2D6 phenotype assignment from genotype data: a critical assessment and call for standardization

J Kevin Hicks, JJ Swen, A Gaedigk - Current drug metabolism, 2014 - ingentaconnect.com
The cytochrome P450 2D6 (CYP2D6) enzyme contributes to the metabolism and/or
bioactivation of approximately 25% of clinically used drugs. The CYP2D6 gene locus is …

CYP2D6 genotyping as an alternative to phenotyping for determination of metabolic status in a clinical trial setting

S McElroy, J Richmond, M Lira, D Friedman, BM Silber… - AAPS pharmsci, 2000 - Springer
The emerging application of pharmacogenomics in the clinical trial setting requires careful
comparison with more traditional phenotyping methodologies, particularly in the drug …

How and why to screen for CYP2D6 interindividual variability in patients under pharmacological treatments

M De Gregori, M Allegri, S De Gregori… - Current drug …, 2010 - ingentaconnect.com
Cytochromes P450 are members of a superfamily of hemoproteins that catalyze a variety of
oxidative reactions in the metabolism of endogenous and exogenous hydrophobic …

The CYP2D6 activity score: translating genotype information into a qualitative measure of phenotype

A Gaedigk, SD Simon, RE Pearce… - Clinical …, 2008 - Wiley Online Library
Inferring CYP2D6 phenotype from genotype is increasingly challenging, considering the
growing number of alleles and their range of activity. This complexity poses a challenge in …

[HTML][HTML] Ten years' experience with the CYP2D6 activity score: a perspective on future investigations to improve clinical predictions for precision therapeutics

A Gaedigk, JC Dinh, H Jeong, B Prasad… - Journal of personalized …, 2018 - mdpi.com
The seminal paper on the CYP2D6 Activity Score (AS) was first published ten years ago
and, since its introduction in 2008, it has been widely accepted in the field of …

[HTML][HTML] CYP2D6 overview: allele and phenotype frequencies

M Kane - Medical Genetics Summaries [Internet], 2021 - ncbi.nlm.nih.gov
Genetic variation has a significant impact on an individual's metabolism and response to a
wide range of medications. The cytochrome P450 family of enzymes are key determinants in …

[HTML][HTML] Frequency of CYP2D6 alleles including structural variants in the United States

AL Del Tredici, A Malhotra, M Dedek, F Espin… - Frontiers in …, 2018 - frontiersin.org
The CYP2D6 gene encodes an enzyme important in the metabolism of many commonly
used medications. Variation in CYP2D6 is associated with inter-individual differences in …

Interrogation of CYP2D6 Structural Variant Alleles Improves the Correlation Between CYP2D6 Genotype and CYP2D6‐Mediated Metabolic Activity

R Dalton, S Lee, KG Claw, B Prasad… - Clinical and …, 2020 - Wiley Online Library
The cytochrome P450 2D6 (CYP 2D6) gene locus is challenging to accurately genotype due
to numerous single nucleotide variants and complex structural variation. Our goal was to …

[HTML][HTML] Prediction of CYP2D6 phenotype from genotype across world populations

A Gaedigk, K Sangkuhl, M Whirl-Carrillo, T Klein… - Genetics in …, 2017 - nature.com
Purpose: Owing to its highly polymorphic nature and major contribution to the metabolism
and bioactivation of numerous clinically used drugs, CYP2D6 is one of the most extensively …

[HTML][HTML] Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing

LH Cavallari, SL Van Driest, CA Prows, JR Bishop… - Genetics in …, 2019 - Elsevier
Purpose A number of institutions have clinically implemented CYP2D6 genotyping to guide
drug prescribing. We compared implementation strategies of early adopters of CYP2D6 …