Brazilian cohort and genes encoding for drug-metabolizing enzymes and drug transporters.

摘要: Background & aim: Genetic variability in drug absorption, distribution, metabolism and excretion (ADME) genes contributes to the high heterogeneity of responses. The present study investigated polymorphisms ADME frequencies compared findings with populations from other continents, available 1000 Genome Project (1 KGP) Exome Aggregation Consortium (ExAC) databases. Methodology results: We conducted a 100 patients Brazil total 2003 SNPs were evaluated by targeted next-generation sequencing 148 genes, including Phase I enzymes (n = 50), II 38) transporters 60). Overall, distribution minor allele frequency (MAF) suggests that is similar between Brazilian cohort, 1 KGP ExAC; however, we found moderate SNP allele-frequency divergence cohort both ExAC. These differences observed several relevant CYP3A4, NAT2 SLCO1B1. Conclusion: concluded population needs clinical assessment treatment based on individual genotype rather than ethnicity.