Toward predicting CYP2D6-mediated variable drug response from CYP2D6 gene sequencing data

M van der Lee, WG Allard, RHAM Vossen… - Science translational …, 2021 - science.org
Pharmacogenomics is a key component of personalized medicine that promises safer and
more effective drug treatment by individualizing drug choice and dose based on genetic …

Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences

GP Twist, A Gaedigk, NA Miller, EG Farrow… - NPJ genomic …, 2016 - nature.com
An important component of precision medicine—the use of whole-genome sequencing
(WGS) to guide lifelong healthcare—is electronic decision support to inform drug choice and …

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 …

CYP2D6 phenotype prediction from genotype: which system is the best?

J Kirchheiner - Clinical Pharmacology & Therapeutics, 2008 - Wiley Online Library
Genotyping of the polymorphic cytochrome P450 (CYP) 2D6 gene is used increasingly in
clinical practice. Several psychiatric hospitals already use CYP2D6 testing before treating a …

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 …

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 …

In vivo assessment of the metabolic activity of CYP2D6 diplotypes and alleles

DL Hertz, AC Snavely, HL McLeod… - British journal of …, 2015 - Wiley Online Library
Aims A prospectively enrolled patient cohort was used to assess whether the prediction of
CYP2D6 phenotype activity from genotype data could be improved by reclassification of …

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 …

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 …

Functional characterization of CYP2D6 enhancer polymorphisms

D Wang, AC Papp, X Sun - Human molecular genetics, 2015 - academic.oup.com
Abstract CYP2D6 metabolizes nearly 25% of clinically used drugs. Genetic polymorphisms
cause large inter-individual variability in CYP2D6 enzyme activity and are currently used as …