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Characterization of CYP2C19*17 polymorphism in a Portuguese population sample relevant for proton pump inhibitor therapy : a pilot study

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Resumo:The interindividual variability of Proton Pump Inhibitor (PPI) therapy results from the phenotype variability associated with the cytochrome P450 2C19 (CYP2C19) gene, namely the CYP2C19*17 allele. Our aim was to characterize patients’ genetic variability undergoing PPI therapy. A sample of 33 oral mucosa cells from Portuguese pharmacy patients was collected, followed by genotyping. The allelic frequencies of CYP2C19*1 (-806C) and CYP2C19*17 (-806T) were 71.2% and 28.8%, respectively. The genotypic frequencies for CYP2C19*1/*1 and CYP2C19*1/*17 were 42.4% and 57.6%, respectively, and 19 of these patients may have a Rapid Metabolizer (RM) phenotype pharmaceutical opinion letter, based on genetic evidence.
Autores principais:Ferraz, Adriana M. L.
Outros Autores:Bandarra, Susana; Mascarenhas, Paulo; Barahona, Isabel; Martins, Rui; Ribeiro, Ana Clara
Assunto:Cytochrome P450 2C19 Pharmacogenetics Proton pump inhibitors
Ano:2021
País:Portugal
Tipo de documento:outro
Tipo de acesso:acesso aberto
Instituição associada:Egas Moniz - Cooperativa de Ensino Superior, CRL
Idioma:inglês
Origem:Egas Moniz - Cooperativa de Ensino Superior, CRL
Descrição
Resumo:The interindividual variability of Proton Pump Inhibitor (PPI) therapy results from the phenotype variability associated with the cytochrome P450 2C19 (CYP2C19) gene, namely the CYP2C19*17 allele. Our aim was to characterize patients’ genetic variability undergoing PPI therapy. A sample of 33 oral mucosa cells from Portuguese pharmacy patients was collected, followed by genotyping. The allelic frequencies of CYP2C19*1 (-806C) and CYP2C19*17 (-806T) were 71.2% and 28.8%, respectively. The genotypic frequencies for CYP2C19*1/*1 and CYP2C19*1/*17 were 42.4% and 57.6%, respectively, and 19 of these patients may have a Rapid Metabolizer (RM) phenotype pharmaceutical opinion letter, based on genetic evidence.