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克罗地亚的人群药物基因组学:评估 PGx 等位基因频率和治疗效果的影响。

Population Pharmacogenomics in Croatia: Evaluating the PGx Allele Frequency and the Impact of Treatment Efficiency.

机构信息

St Catherine Specialty Hospital, 10000 Zagreb, Croatia.

School of Medicine, Josip Juraj Strossmayer University of Osijek, 31000 Osijek, Croatia.

出版信息

Int J Mol Sci. 2023 Aug 31;24(17):13498. doi: 10.3390/ijms241713498.

DOI:10.3390/ijms241713498
PMID:37686303
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10487565/
Abstract

BACKGROUND

Adverse drug reactions (ADRs) are a significant cause of mortality, and pharmacogenomics (PGx) offers the potential to optimize therapeutic efficacy while minimizing ADRs. However, there is a lack of data on the Croatian population, highlighting the need for investigating the most common alleles, genotypes, and phenotypes to establish national guidelines for drug use.

METHODS

A single-center retrospective cross-sectional study was performed to examine the allele, genotype, and phenotype frequencies of drug-metabolizing enzymes, receptors, and other proteins in a random sample of 522 patients from Croatia using a 28-gene PGx panel.

RESULTS

Allele frequencies, genotypes, and phenotypes for the investigated genes were determined. No statistically significant differences were found between the Croatian and European populations for most analyzed genes. The most common genotypes observed in the patients resulted in normal metabolism rates. However, some genes showed higher frequencies of altered metabolism rates.

CONCLUSIONS

This study provides insights into the allele, genotype, and phenotype frequencies of drug-metabolizing enzymes, receptors, and other associated proteins in the Croatian population. The findings contribute to optimizing drug use guidelines, potentially reducing ADRs, and improving therapeutic efficacy. Further research is needed to tailor population-specific interventions based on these findings and their long-term benefits.

摘要

背景

药物不良反应(ADR)是导致死亡的重要原因,而药物基因组学(PGx)提供了优化治疗效果、同时最大限度减少 ADR 的潜力。然而,关于克罗地亚人群的数据缺乏,这凸显了调查最常见等位基因、基因型和表型的必要性,以制定国家药物使用指南。

方法

采用单中心回顾性横断面研究,使用 28 基因 PGx 面板对来自克罗地亚的 522 例随机患者样本检测药物代谢酶、受体和其他蛋白的等位基因、基因型和表型频率。

结果

确定了所研究基因的等位基因频率、基因型和表型。大多数分析基因在克罗地亚和欧洲人群之间没有发现统计学上的显著差异。患者中最常见的基因型导致正常的代谢率。然而,一些基因显示出更高的改变代谢率的频率。

结论

本研究提供了克罗地亚人群中药物代谢酶、受体和其他相关蛋白的等位基因、基因型和表型频率的见解。这些发现有助于优化药物使用指南,可能减少 ADR 并提高治疗效果。需要进一步研究根据这些发现及其长期效益制定基于人群的干预措施。

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