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Genotyping CYP2D6 by three different methods: advantages and disadvantages

Abstract Background: CYP2D6 belongs to P450 superfamily, and is responsible for the metabolism of 25% of the drugs used clinically. Genetic variability of CYP2D6 affects individual drug or toxic response leading to differences in the drug outcome or toxicity mediating adverse drug effects. The different variant alleles are associated with increased, decreased, or abolished enzyme hydroxylation functions. The CYP2D6*10 (rs1065852, c.100C>T) allele is associated with reduced function and is one of the most studied alleles. Methods: The aim of this study was to perform three different methods (PCR-RFLP, TaqMan® Drug Metabolism Genotyping Assays, and Sanger Sequencing) for genotyping alteration c.100C>T, rs1065852 in a group of 24 Portuguese subjects (15 females and 9 males, mean age 70±9 years) and compare the results. Results: We found 16 samples homozygous for *1 allele and 8 heterozygous for *10 allele. Conclusions: The three methods provide concordant results suggesting that any of these techniques is a reliable and sensitive method for genotyping CYP2D6. However, we would recommend the use of TaqMan® Drug Metabolism Assays, given the advantages concerning time spending, straightforwardness, reliability, and accuracy.