TY - DATA T1 - Supplementary Material for: Allele Drop Out Conferred by a Frequent CYP2D6 Genetic Variation For Commonly Used CYP2D6*3 Genotyping Assays PY - 2017/10/26 AU - Scantamburlo G. AU - Tziolia K. AU - Zopf M. AU - Bernardinelli E. AU - Soyal S.M. AU - Civello D.A. AU - Vanoni S. AU - Dossena S. AU - Patsch W. AU - Patrinos G.P. AU - Paulmichl M. AU - Nofziger C. UR - https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Allele_Drop_Out_Conferred_by_a_Frequent_CYP2D6_Genetic_Variation_For_Commonly_Used_CYP2D6_3_Genotyping_Assays/5539726 DO - 10.6084/m9.figshare.5539726.v1 L4 - https://ndownloader.figshare.com/files/9592114 KW - Pharmacogenomics KW - Pharmacogenetics KW - Precision medicine KW - Pyrosequencing N2 - Background/Aim: Accurate genotyping of CYP2D6 is challenging due to its inherent genetic variation, copy number variation (duplications and deletions) and hybrid formation with highly homologous pseudogenes. Because a relatively high percentage (∼25%) of clinically prescribed drugs are substrates for this enzyme, accurate determination of its genotype for phenotype prediction is essential. Methods: A cohort of 365 patient samples was genotyped for CYP2D6 using Sanger sequencing (as the gold standard), hydrolysis probe assays or pyrosequencing. Results: A discrepant result between the three genotyping methods for the loss of function CYP2D6*3 (g.2549delA, rs35742686) genetic variant was found in one of the samples. This sample also contained the CYP2D6 g.2470T>C (rs17002852) variation, which had an allele frequency of 2.47% in our cohort. Redesign of the CYP2D6*3 pyrosequencing and hydrolysis probe assays to avoid CYP2D6 g.2470 corrected the anomaly. Conclusion: To evidence allele drop out and increase the accuracy of genotyping, intra-patient validation of the same genetic variation with at least two separate methods should be considered. ER -