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 …

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 …

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 …

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 …

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 …

Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and …

KE Caudle, K Sangkuhl, M Whirl‐Carrillo… - Clinical and …, 2020 - Wiley Online Library
Translating CYP 2D6 genotype to metabolizer phenotype is not standardized across clinical
laboratories offering pharmacogenetic (PGx) testing and PGx clinical practice guidelines …

[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 …

CYP2D6* 36 gene arrangements within the cyp2d6 locus: association of CYP2D6* 36 with poor metabolizer status

A Gaedigk, LDA Bradford, SW Alander… - Drug metabolism and …, 2006 - ASPET
Unexplained cases of CYP2D6 genotype/phenotype discordance continue to be discovered.
In previous studies, several African Americans with a poor metabolizer phenotype carried …

[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 …

A Review of the Important Role of CYP2D6 in Pharmacogenomics

C Taylor, I Crosby, V Yip, P Maguire, M Pirmohamed… - Genes, 2020 - mdpi.com
Cytochrome P450 2D6 (CYP2D6) is a critical pharmacogene involved in the metabolism of~
20% of commonly used drugs across a broad spectrum of medical disciplines including …