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药物基因组学研究在埃塞俄比亚患者精准医疗中的作用及其临床意义:一项范围综述

The Role of Pharmacogenomics Studies for Precision Medicine Among Ethiopian Patients and Their Clinical Implications: A Scoping Review.

作者信息

Getahun Kefyalew Ayalew, Angaw Dessie Abebaw, Asres Mezgebu Silamsaw, Kahaliw Wubayehu, Petros Zelalem, Abay Solomon Mequanente, Yimer Getnet, Berhane Nega

机构信息

Department of Pharmacology, School of Pharmacy, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.

Department of Biostatistics and Epidemiology, Institute of Public Health, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.

出版信息

Pharmgenomics Pers Med. 2024 Jul 1;17:347-361. doi: 10.2147/PGPM.S454328. eCollection 2024.

DOI:10.2147/PGPM.S454328
PMID:38974617
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11226858/
Abstract

BACKGROUND

Pharmacogenomics research is currently revolutionizing treatment optimization by discovering molecular markers. Medicines are the cornerstone of treatment for both acute and chronic diseases. Pharmacogenomics associated treatment response varies from 20% to 95%, resulting in from lack of efficacy to serious toxicity. Pharmacogenomics has emerged as a useful tool for therapy optimization and plays a bigger role in clinical care going forward. However, in Africa, in particular in Ethiopia, such studies are scanty and not generalizing. Therefore, the objective of this review was to outline such studies, generating comprehensive evidence and identify studied variants' association with treatment responses in Ethiopian patients.

METHODS

The Joanna Briggs Institute's updated 2020 methodological guidelines for conducting and guidance for scoping reviews were used. We meticulously adhered to the systemic review reporting items checklist and scoping review meta-analyses extension.

RESULTS

Two hundred twenty-nine possibly relevant studies were searched. These include: 64, 54, 21, 48 and 42 from PubMed, Scopus, Google Scholar, EMBASE, and manual search, respectively. Seventy-seven duplicate studies were removed. Thirty-nine papers were rejected with justification, whereas 58 studies were qualified for full-text screening. Finally 19 studies were examined. The primary pharmacogene that was found to have a significant influence on the pharmacokinetics of efavirenz was CYP2B6. Drug-induced liver injury has frequently identified toxicity among studied medications.

CONCLUSION AND FUTURE PERSPECTIVES

Pharmacogenomics studies in Ethiopian populations are less abundant. The studies conducted focused on infectious diseases, specifically on HAART commonly efavirenz and backbone first-line anti-tuberculosis drugs. There is a high need for further pharmacogenomics research to verify the discrepancies among the studies and for guiding precision medicine. Systematic review and meta-analysis are also recommended for pooled effects of different parameters in pharmacogenomics studies.

摘要

背景

药物基因组学研究目前正在通过发现分子标记物来彻底改变治疗优化。药物是急性和慢性疾病治疗的基石。药物基因组学相关的治疗反应从20%到95%不等,导致疗效不佳或严重毒性。药物基因组学已成为优化治疗的有用工具,并在未来的临床护理中发挥更大作用。然而,在非洲,特别是在埃塞俄比亚,此类研究很少且缺乏普遍性。因此,本综述的目的是概述此类研究,生成全面的证据,并确定埃塞俄比亚患者中研究的变异与治疗反应的关联。

方法

使用了乔安娜·布里格斯研究所2020年更新的关于进行范围综述的方法指南和指导。我们严格遵守系统综述报告项目清单和范围综述元分析扩展。

结果

检索了229项可能相关的研究。这些研究分别来自PubMed、Scopus、谷歌学术、EMBASE和手动检索,数量分别为64项、54项、21项、48项和42项。剔除了77项重复研究。39篇论文因合理理由被拒绝,而58项研究符合全文筛选条件。最后审查了19项研究。发现对依非韦伦药代动力学有显著影响的主要药物基因是CYP2B6。药物性肝损伤是研究药物中常见的毒性反应。

结论与未来展望

埃塞俄比亚人群中的药物基因组学研究较少。已开展的研究集中在传染病方面,特别是高效抗逆转录病毒治疗,通常是依非韦伦和一线抗结核主干药物。迫切需要进一步开展药物基因组学研究,以验证研究之间的差异并指导精准医学。还建议进行系统综述和元分析,以汇总药物基因组学研究中不同参数的效应。

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