Effectiveness of a High-Throughput Genetic Analysis in the Identification of Responders/Non-responders to CYP2D6-Metabolized Drugs
Savino, M.; Seripa, D.; Gallo, A.P.; Garrubba, M.; Grazia D'Onofrio; Bizzarro, A.; Paroni, G.; Paris, F.; Mecocci, P.; Masullo, C.; Pilotto, A.; Santini, S.A.
Clinical Laboratory 57(11-12): 887-893
2011
ISSN/ISBN: 1433-6510 PMID: 22239018 Document Number: 12249
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 TM CYP4502D6-I assay on the AutoGenomics INFINITI TM 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.
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