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

Vera Kim, Thijs Van Der Wal, Miriam Yumie Nishi, Luciana Ribeiro Montenegro, Flair Jose Carrilho, Yujin Hoshida, Suzane Kioko Ono

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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

Original languageEnglish
Pages (from-to)575-586
Number of pages12
Issue number9
StatePublished - Jun 2020


  • ADME genes
  • Brazilian
  • admixture population
  • genetic diversity
  • next-generation sequencing
  • pharmacogenomics


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