Characterization of CYP2D6 genotypes and metabolic profiles in the Portuguese population: pharmacogenetic implications

Personalized Medicine
José AlbuquerqueCEIBA.FP Consortium of the Ibero–American Network of Pharmacogenetics & Pharmacogenomics RIBEF §

Abstract

CYP2D6 codes for a protein that is vastly involved in the metabolism of various substances. This gene is highly polymorphic, which influences the enzymatic activity and contributes to the huge variability in the enzyme hydroxylation capacity. Different metabolic profiles determine the processing of xenobiotics and endobiotics, thereby influencing disease risk, therapeutic efficacy and side effects, or toxicity of xenobiotics. The aim of this work was to characterize CYP2D6 polymorphisms and predict metabolic profiles in the Portuguese population. The study comprised 300 Portuguese unrelated healthy adult volunteers. Genetic analysis included allelic discrimination and copy number determination with TaqMan® probes by real-time PCR and allele duplications of CYP2D6*1, CYP2D6*2, CYP2D6*4 and CYP2D6*10 were confirmed by long PCR and PCR-RFLP. The percentages of poor and ultrarapid metabolizers found in this Portuguese population were 6.3 and 4.7%, respectively. Compared with other studies, such as in Spaniards, the allelic frequencies observed were similar, with some exceptions, such as for CYP2D6*10, which is higher in the Portuguese population, and for CYP2D6*6 and duplication of *1 and *2, appearing in lower frequencies in the p...Continue Reading

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Citations

Sep 6, 2018·Omics : a Journal of Integrative Biology·María-Eugenia G NaranjoUNKNOWN CEIBA-Consortium of the Ibero-American Network of Pharmacogenetics and Pharmacogenomics RIBEF
Nov 23, 2016·Drug Metabolism and Personalized Therapy·Nancy MorenoYuselin Mora
Feb 9, 2017·Drug Metabolism and Personalized Therapy·Carolina RibeiroManuela Grazina
Oct 16, 2014·Expert Opinion on Drug Metabolism & Toxicology·Adrián LLerenaEduardo Tarazona-Santos
Mar 17, 2018·Pain Medicine : the Official Journal of the American Academy of Pain Medicine·Carolina RibeiroManuela Grazina

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Methods Mentioned

BETA
genotyping
PCR
Assay

Software Mentioned

GraphPad Prism
Raosoft Sample size calculator
VassarStats
CopyCaller

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