Effectiveness of a high-throughput genetic analysis in the identification of responders/non-responders to CYP2D6-metabolized drugs

Maria Savino, Davide Seripa, Antonietta P. Gallo, Maria Garrubba, Grazia D'Onofrio, Alessandra Bizzarro, Giulia Paroni, Francesco Paris, Patrizia Mecocci, Carlo Masullo, Alberto Pilotto, Stefano A. Santini

Research output: Contribution to journalArticle

Abstract

Background: Recent studies investigating the single cytochrome P450 (CYP) 2D6 allele*2A reported an association with the response to drug treatments. More genetic data can be obtained, however, by high-throughput based-technologies. Aim of this study is the high-throughput analysis of the CYP2D6 polymorphisms to evaluate its effectiveness in the identification of patient responders/non-responders to CYP2D6-metabolized drugs. Methods: An attempt to compare our results with those previously obtained with the standard analysis of CYP2D6 allele*2A was also made. Sixty blood samples from patients treated with CYP2D6-metabolized drugs previously genotyped for the allele CYP2D6*2A, were analyzed for the CYP2D6 polymorphisms with the AutoGenomics INFINITI™ CYP4502D6-I assay on the AutoGenomics INFINITI™ analyzer. Results: A higher frequency of mutated alleles in responder than in non-responder patients (75.38% vs 43.48%; p = 0.015) was observed. Thus, the presence of a mutated allele of CYP2D6 was associated with a response to CYP2D6-metabolized drugs (OR = 4.044 (1.348 - 12.154). No difference was observed in the distribution of allele*2A (p = 0.320). Conclusions: The high-throughput genetic analysis of the CYP2D6 polymorphisms better discriminate responders/non-responders with respect to the standard analysis of the CYP2D6 allele*2A. A high-throughput genetic assay of the CYP2D6 may be useful to identify patients with different clinical responses to CYP2D6-metabolized drugs.

Original languageEnglish
Pages (from-to)887-893
Number of pages7
JournalClinical Laboratory
Volume57
Issue number11-12
Publication statusPublished - 2011

Keywords

  • CYP2D6
  • Cytochrome P4502D6
  • Genetic analysis
  • High-throughput analysis

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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    Savino, M., Seripa, D., Gallo, A. P., Garrubba, M., D'Onofrio, G., Bizzarro, A., Paroni, G., Paris, F., Mecocci, P., Masullo, C., Pilotto, A., & Santini, S. A. (2011). Effectiveness of a high-throughput genetic analysis in the identification of responders/non-responders to CYP2D6-metabolized drugs. Clinical Laboratory, 57(11-12), 887-893.