CYP2D6 genotyping in an Argentinean population.

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e13543 Background: The polymorphic CYP2D6 gene shows a high degree of interindividual and interethnic variability that influences its expression and function. CYP2D6 polymorphism influences the metabolism of tamoxifen and the analgesic response to product opioids (codeine, tramadol and oxycodone). Given the limited availability of data regarding the alleles and genotypes in Argentina, where Native American founder effects and the multiracial demography of immigration are predicted to result in high genetic variation, this study aimed to determine CYP2D6alleles and their frequencies in this population. Methods: 56 unrelated Argentinean subjects were screened using a CYP2D6specific long range PCR with sequencing platform. Results: We detected a total of 26 known single nucleotide polymorphisms; and gene duplication or multiplication (CYP2D6*1xN) in 2/112 alleles. The deleterious variants 100C>T, 1846G>A y 2988G>A were found in 25/112, 25/112 and 4/112 alleles, respectively. The identified alleles are derived from 5 mayor alleles, namely the wild type CYP2D6*1, the functional CYP2D6*2 and CYP2D6*35 alleles, the null allele CYP2D6*4 and the reduced-activity allele CYP2D6*41 with a frequency of 46/112, 10/112, 6/112, 42/112 and 6/112, respectively. CYP2D6 gene deletions (CYP2D6*5) were not found. Conclusions: To our knowledge, this study is the first resequencing analysis of CYP2D6 gene in Argentinean population, providing information about genetic diversity relevant in the development of pharmacogenomics in this region.

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