Eken Eda, Estores David S, Cicali Emily J, Wiisanen Kristin K, Johnson Julie A
Department of Pharmacotherapy and Translational Research, College of Pharmacy, University of Florida, Gainesville, FL, USA.
Center for Pharmacogenomics and Precision Medicine, University of Florida, Gainesville, FL, USA.
Pharmgenomics Pers Med. 2023 Jun 23;16:645-664. doi: 10.2147/PGPM.S371994. eCollection 2023.
Proton pump inhibitors (PPIs) are commonly used medications to treat acid-related conditions, including gastro-esophageal reflux disease (GERD). Gastroenterology guidelines mention the importance of CYP2C19 in PPI metabolism and the influence of genetic variations on variable responses to PPIs, but do not currently recommend the genotyping of prior to prescribing PPIs. There are strong data to support the influence of genetic variations on the pharmacokinetics of PPIs and clinical outcomes. Existing pharmacogenetic guideline recommendations for dose increases focus on and erosive esophagitis indications, but PPIs are also the main therapy for treating GERD. Recent data suggest GERD patients being treated with a PPI may also benefit from genotype-guided dosing. We summarize the literature supporting this contention and highlight future directions for improved management of patients with GERD through precision medicine approaches.
质子泵抑制剂（PPIs）是治疗酸相关疾病（包括胃食管反流病（GERD））的常用药物。胃肠病学指南提到了CYP2C19在PPI代谢中的重要性以及基因变异对PPI不同反应的影响，但目前不建议在开具PPI之前进行基因分型。有强有力的数据支持基因变异对PPI药代动力学和临床结果的影响。现有的关于增加剂量的药物遗传学指南建议主要集中在[此处原文缺失具体内容]和糜烂性食管炎适应症上，但PPI也是治疗GERD的主要疗法。最近的数据表明，接受PPI治疗的GERD患者也可能从基因型指导的给药中获益。我们总结了支持这一观点的文献，并强调了通过精准医学方法改善GERD患者管理的未来方向。
