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Effectiveness of a High-Throughput Genetic Analysis in the Identification of Responders/Non-responders to CYP2D6-Metabolized Drugs by 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

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 INFINITITM CYP4502D6-I assay on the AutoGenomics INFINITITM 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.

DOI: Clin. Lab. 2011;57:887-893