Advanced search
Publication Cover
Personalized Medicine Volume 10, 2013 - Issue 7
Submit an article Journal homepage
84
Views
0
CrossRef citations to date
0
Altmetric
Research Article

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

José Albuquerque1 Faculty of Medicine, University of Coimbra, PortugalView further author information
,
Carolina Ribeiro2 CNC – Center for Neuroscience & Cell Biology, University of Coimbra, PortugalView further author information
,
Maria Eugenia G Naranjo3 CICAB Clinical Research Centre, Extremadura University Hospital & Medical School, Badajoz, SpainView further author information
,
Adrián Llerena3 CICAB Clinical Research Centre, Extremadura University Hospital & Medical School, Badajoz, SpainView further author information
&
Manuela Grazina1 Faculty of Medicine, University of Coimbra, Portugal;2 CNC – Center for Neuroscience & Cell Biology, University of Coimbra, PortugalCorrespondence[email protected]
View further author information
Pages 709-718 | Published online: 10 Sep 2013

References

  • Sachse C , BrockmöllerJ, BauerS, RootsI. Cytochrome P450 2D6 variants in a Caucasian population: allele frequencies and phenotypic consequences. Am. J. Hum. Genet.60 , 284–295 (1997).
  • Scordo MG , CaputiAP, D‘ArrigoC, FavaG, SpinaE. Allele and genotype frequencies of CYP2C9, CYP2C19 and CYP2D6 in an Italian population. Pharmacol. Res.50 , 195–200 (2004).
  • LLerena A , DoradoP, Peñas-LLedóEM. Pharmacogenetics of debrisoquine and its use as a marker for CYP2D6 hydroxylation capacity. Pharmacogenomics10(1) , 17–28 (2009).
  • Gasche Y , DaaliY, FathiM et al. Codeine intoxication associated with ultrarapid CYP2D6 metabolism. N. Engl. J. Med. 351 , 2827–2831 (2004).
  • Zanger MU , SchwabM. Cytochrome P450 enzymes in drug metabolism: regulation of gene expression, enzyme activities, and impact of genetic variation. Pharmacol. Ther.138 , 103–141 (2013).
  • Sistonen J , SajantilaA, LaoO, CoranderJ, BarbujaniG, FuselliS. CYP2D6 worldwide genetic variation shows high frequency of altered activity variants and no continental structure. Pharmacogenet. Genomics17 , 93–101 (2007).
  • Menoyo A , del Rio E, Baget M. Characterization of variant alleles of cytochrome CYP2D6 in a Spanish population. Cell Biochem. Funct.24 , 381–385 (2006).
  • LLerena A , DoradoP, RamirezR et al. CYP2D6 genotype and debrisoquine hydroxylation phenotype in Cubans and Nicaraguans. Pharmacogenomics J.12 , 176–183 (2012).
  • Saladores PH , PrechtJC, SchrothW, BrauchH, SchwabM. Impact of metabolizing enzymes on drug response of endocrine therapy in breast cancer. Expert Rev. Mol. Diagn.13(4) , 349–365 (2013).
  • Pereira R , PhillipsC, PintoN et al. Straightforward inference of ancestry and admixture proportions through ancestry – informative insertion deletion multiplexing. PLoS ONE 7(1) , e29684 (2012).
  • Gaedigk A , BlumM, GaedigkR, EichelbaumM, MeyerUA. Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism. Am. J. Hum. Genet.48 , 943–950 (1991).
  • Dorado P , CáceresMC, Pozo-GuisadoE, WongML, LicinioJ, LLerenaA. Development of a PCR-based strategy for CYP2D6 genotyping including gene multiplication of worldwide potential use. Biotechniques39 , 571–574 (2005).
  • Gaedigk A , SimonSD, PearceRE, BradfordLD, KennedyMJ, LeederJS. The CYP2D6 activity score: translating genotype information into a qualitative measure of phenotype. Clin. Pharmacol. Ther.83 , 234–242 (2008).
  • Ingelman-Sundberg M . Genetic polymorphisms of cytochrome P450 2D6 (CYP2D6): clinical consequences, evolutionary aspects and functional diversity. Pharmacogenomics J.5 , 6–13 (2005).
  • van Schaik RH . Dose adjustments based on pharmacogenetics of CYP450 enzymes. In: New Trends in Diagnosis, Monitoring and Management Using Molecular Diagnosis Methods, Handbook. Topic E, Brguljan PM, Blaton V (Eds). European Societies of Clinical Chemistry, Dubrovnik, Croatia, 6–7 (2007).
  • Rosenberg NA , PritchardJK, WeberJL et al. Genetic structures of human populations. Science 289(5602) , 2381–2385 (2002).
  • Serre D , PaaboS. Evidence for gradients of human genetic diversity within and among continents. Genome Res.14 , 1679–1685 (2004).
  • von Ahsen N , TzvetkovM, KarunajeewaHA et al. CYP2D6 and CYP2C19 in Papua New Guinea: high frequency of previously uncharacterized CYP2D6 alleles and heterozygote excess. Int. J. Mol. Epidemiol. Genet. 1(4) , 310–319 (2010).
  • Rebsamen MC , DesmeulesJ, DaaliY et al. The AmpliChip CYP450 test: cytochrome P450 2D6 genotype assessment and phenotype prediction. Pharmacogenomics J. 9 , 34–41 (2009).
  • Ng SB , TurnerEH, RobertsonPD et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461 , 272–276 (2009).
  • Correia C , SantosP, CoutinhoAM, VicenteAM. Characterization of pharmacogenetically relevant CYP2D6 and ABCB1 gene polymorphisms in a Portuguese population sample. Cell Biochem. Funct.27 , 251–255 (2009).
  • Schroth W , HamannU, FaschingPA et al. CYP2D6 polymorphisms as predictors of outcome in breast cancer patients treated with tamoxifen: expanded polymorphism coverage improves risk stratification. Clin. Cancer Res.16(17) , 4468–4477 (2010).
  • Sim SC , KacevskaM, Ingelman-SundbergM. Pharmacogenomics of drug-metabolizing enzymes: a recent update on clinical implications and endogenous effects. Pharmacogenomics J.13(1) , 1–11 (2013).
  • Rodeiro I , Remírez-FigueredoD, García-MesaM, DoradoP, LLerenaA. Pharmacogenetics in Latin American populations: regulatory aspects, application to herbal medicine, cardiovascular and psychiatric disorders. Drug Metab. Drug Interact.27(1) , 57–60 (2012).
  • Rideg O , HáberA, BotzL et al. Pilot study for the characterization of pharmacogenetically relevant CYP2D6, CYP2C19 and ABCB1 gene polymorphisms in the Hungarian population. Cell Biochem. Funct. 29 , 562–568 (2011).
  • Gaikovitch EA , CascorbiI, MrozikiewiczPM et al. Polymorphisms of drug-metabolizing enzymes CYP2C9, CYP2C19, CYP2D6, CYP1A1, NAT2 and of P-glycoprotein in a Russian population. Eur. J. Clin. Pharmacol. 59 , 303–312 (2003).
  • Tamminga WJ , WemerJ, OosterhuisB et al. The prevalence of CYP2D6 and CYPC19 genotypes in a population of healthy Dutch volunteers. Eur. J. Clin. Pharmacol. 57 , 717–722 (2001).
  • Bozina N , GranicP, LalicZ, TramisakI, LovricM, StavljenicrukavinaA. Genetic polymorphisms of cytochromes P450: CYP2C9, CYP2C19, and CYP2D6 in croatian population. Croat. Med. J.44(4) , 425–428 (2003).
  • Arvanitidis K , RagiaG, IordanidouM et al. Genetic polymorphisms of drug-metabolizing enzymes CYP2D6, CYP2C9, CYP2C19 and CYP3A5 in the Greek population. Fundam. Clin. Pharmacol. 21 , 419–426 (2007).
  • Aynacioglu AS , SachseC, BozkurtA et al. Low frequency of defective alleles of cytochrome P450 enzymes 2C19 and 2D6 in the Turkish population. Clin. Pharmacol. Ther. 66(2) , 185–192 (1999).
  • Crescenti A , MasS, GassóP, BaigetM, BernardoM, LafuenteA. Simultaneous genotyping of CYP2D6*3, *4, *5 and *6 polymorphisms in a Spanish population through multiplex long polymerase chain reaction and minisequencing multiplex single base extension analysis. Clin. Exp. Pharmacol. Physiol.34 , 992–997 (2007).
  • Arvela P , KirjarintaM, KirjarintaM, KarkiN, PelkonenO. Polymorphism of debrisoquine hydroxylation among Finns and Lapps. Br. J. Clin. Pharm.26 , 601–603 (1988).
  • Bernard S , NevilleKA, NguyenAT, FlockhartDA. Interethnic differences in genetic polymorphisms of CYP2D6 in the U.S. population: clinical implications. Oncologist11 , 126–135 (2006).
  • Raimundo S , ToscanoC, KleinK et al. A novel intronic mutation, 2988G>A, with high predictivity for impaired function of cytochrome P450 2D6 in white subjects. Clin. Pharmacol. Ther. 76(2) , 128–138 (2004).

▪ Websites

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.