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

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

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