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

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art_KIM_Brazilian_cohort_and_genes_encoding_for_drugmetabolizing_enzymes_2020.PDF (819.23 KB)
Citações na Scopus
3
Tipo de produção
article
Data de publicação
2020
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
Editora
FUTURE MEDICINE LTD
Autores
WAL, Thijs van der
HOSHIDA, Yujin
Citação
PHARMACOGENOMICS, v.21, n.9, p.575-586, 2020
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
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.
Palavras-chave
ADME genes, admixture population, Brazilian, genetic diversity, next-generation sequencing, pharmacogenomics
URI
https://observatorio.fm.usp.br/handle/OPI/37746
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MGT
Artigos e Materiais de Revistas Científicas - FM/MCM
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - LIM/07
Artigos e Materiais de Revistas Científicas - LIM/42