Characterization of <i>CYP2D6</i> genotypes and metabolic profiles in the Portuguese population: pharmacogenetic implications

Abstract

Compared with other studies, such as in Spaniards, the allelic frequencies observed were similar, with some exceptions, such as for CYP2D6*10, which is higher in the Portuguese population, and for CYP2D6*6 and duplication of *1 and *2, appearing in lower frequencies in the present study. These results allow the determination of the frequency of the most relevant CYP2D6 polymorphisms and the prediction of the enzyme metabolic activity, being of much importance for the CYP2D6 pharmacogenetics approach in the Portuguese population. The data presented here are significant for the study of genetic variability influencing CYP2D6 activity, to improve the effectiveness and safety of xenobiotics exposure, also can be used as a tool in clinical practice for the development of individualized pharmacotherapy.