ABSTRACT

B y virtue of being the product of the genetic admixture of three ancestral roots: Europeans, Africans and Amerindians, the Brazilian population displays very high levels of genomic diversity and several peculiarities in its genetic structure that are re­ viewed in this chapter. After painting this background we then move to the pharmacogenetic/ genomic arena and review the data available for the Brazilian population, including extant Amerindian groups, for phase I (cytochrome P450 superfamily, butyrylcholinesterase and al­ dehyde dehydrogenases) and phase II (gluthatione-S-transferases, thiopurine S-methyltransferase and N-acetyltransferases) drug metabolizing enzymes, the ABCB1 transmembrane drug trans­ porter and various drug receptors/targets (adrenergic beta-receptors, the G-protein sub-unit 3, the renin-angiotensin system, modulators of drug effects on lip id metabolism and methylenetetrahydrofolate reductase). Finally, we take examples from available Brazilian data to document the challenges and advantages created by population admixture for the study and the implementation of pharmacogenetic/genomic methodology and personalized drug therapy.