Characterization of CYP2C19*17 Polymorphism in a Portuguese Population Sample Relevant for Proton Pump Inhibitor Therapy—A Pilot Study

A. M. Ferraz, S. Bandarra, P. Mascarenhas, I. Barahona, Rui Martins, A. C. Ribeiro
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Abstract

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.
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CYP2C19*17多态性在葡萄牙人群样本中与质子泵抑制剂治疗相关的特征-一项初步研究
质子泵抑制剂(PPI)治疗的个体间变异源于细胞色素P450 2C19 (CYP2C19)基因(即CYP2C19*17等位基因)相关的表型变异。我们的目的是表征接受PPI治疗的患者的遗传变异性。采集葡萄牙药房患者口腔黏膜细胞33例,进行基因分型。CYP2C19*1 (-806C)和CYP2C19*17 (-806T)等位基因频率分别为71.2%和28.8%。CYP2C19*1/*1和CYP2C19*1/*17基因型频率分别为42.4%和57.6%,其中19例患者可能存在快速代谢(RM)表型药学意见书。
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