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心血管病学中避免不良反应的药物遗传学:准备好实施了吗?

Pharmacogenetics to Avoid Adverse Reactions in Cardiology: Ready for Implementation?

作者信息

García-González Xandra, Salvador-Martín Sara

机构信息

Instituto de Investigación Sanitaria Gregorio Marañón (IiSGM), Hospital General Universitario Gregorio Marañón, 28007 Madrid, Spain.

出版信息

J Pers Med. 2021 Nov 11;11(11):1180. doi: 10.3390/jpm11111180.

DOI:10.3390/jpm11111180
PMID:34834533
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8619366/
Abstract

Cardiovascular Diseases (CVs) are one of the main causes of mortality and disability around the world. Advances in drug treatment have greatly improved survival and quality of life in the past decades, but associated adverse events remain a relevant problem. Pharmacogenetics can help individualize cardiovascular treatment, reducing associated toxicities and improving outcomes. Several scientific societies and working groups periodically review available studies and provide consensus recommendations for those gene-drug pairs with a sufficient level of evidence. However, these recommendations are rarely mandatory, and the indications on how to adjust treatment can vary between different guidelines, which limits their clinical applicability. The aim of this review is to compile, compare and discuss available guidelines and recommendations by the main Pharmacogenetics Consortiums (Clinical Pharmacogenetics Implementation Consortium (CPIC); Dutch Pharmacogenetics Working Group (DPWG); the French Network of Pharmacogenetics (Réseau national de pharmacogénétique (RNPGx) and The Canadian Pharmacogenomics Network for Drug Safety (CPNDS) regarding how to apply pharmacogenetic results to optimize pharmacotherapy in cardiology. Pharmacogenetic recommendations included in European or American drug labels, as well as those included in the European Society of Cardiology (ESC) and the American College of Cardiology (ACC) and the American Heart Association (AHA) treatment guidelines are also discussed.

摘要

心血管疾病(CVs)是全球主要的死亡和致残原因之一。在过去几十年中,药物治疗的进展极大地提高了生存率和生活质量,但相关的不良事件仍然是一个重要问题。药物遗传学有助于实现心血管治疗的个体化,减少相关毒性并改善治疗效果。多个科学协会和工作组定期对现有研究进行审查,并为那些有充分证据水平的基因-药物对提供共识性建议。然而,这些建议很少具有强制性,而且不同指南之间关于如何调整治疗的指征可能会有所不同,这限制了它们的临床适用性。本综述的目的是汇编、比较和讨论主要药物遗传学联盟(临床药物遗传学实施联盟(CPIC);荷兰药物遗传学工作组(DPWG);法国药物遗传学网络(Réseau national de pharmacogénétique(RNPGx))以及加拿大药物基因组学药物安全网络(CPNDS))关于如何应用药物遗传学结果优化心脏病药物治疗的现有指南和建议。还将讨论欧洲或美国药品标签中包含的药物遗传学建议,以及欧洲心脏病学会(ESC)、美国心脏病学会(ACC)和美国心脏协会(AHA)治疗指南中包含的建议。

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引用本文的文献

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Pharmacogenetics to Avoid Adverse Drug Reactions.避免药物不良反应的药物遗传学。
J Pers Med. 2022 Jan 26;12(2):159. doi: 10.3390/jpm12020159.

本文引用的文献

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Pharmacogenetics to guide cardiovascular drug therapy.遗传药理学指导心血管药物治疗。
Nat Rev Cardiol. 2021 Sep;18(9):649-665. doi: 10.1038/s41569-021-00549-w. Epub 2021 May 5.
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The role of pharmacogenomics in contemporary cardiovascular therapy: a position statement from the European Society of Cardiology Working Group on Cardiovascular Pharmacotherapy.《药物基因组学在当代心血管治疗中的作用:欧洲心脏病学会心血管药物治疗工作组立场声明》。
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Global Burden of Cardiovascular Diseases and Risk Factors, 1990-2019: Update From the GBD 2019 Study.全球心血管疾病负担及危险因素, 1990-2019:来自 GBD 2019 研究的更新。
J Am Coll Cardiol. 2020 Dec 22;76(25):2982-3021. doi: 10.1016/j.jacc.2020.11.010.
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Important Pharmacogenetic Information for Drugs Prescribed During the SARS-CoV-2 Infection (COVID-19).治疗 SARS-CoV-2 感染(COVID-19)期间开具的药物的重要药物遗传学信息。
Clin Transl Sci. 2020 Nov;13(6):1023-1033. doi: 10.1111/cts.12866. Epub 2020 Sep 16.
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2020 ESC Guidelines for the diagnosis and management of atrial fibrillation developed in collaboration with the European Association for Cardio-Thoracic Surgery (EACTS): The Task Force for the diagnosis and management of atrial fibrillation of the European Society of Cardiology (ESC) Developed with the special contribution of the European Heart Rhythm Association (EHRA) of the ESC.2020年欧洲心脏病学会(ESC)与欧洲心胸外科学会(EACTS)合作制定的心房颤动诊断和管理指南:欧洲心脏病学会(ESC)心房颤动诊断和管理特别工作组,由ESC欧洲心律协会(EHRA)特别贡献制定。
Eur Heart J. 2021 Feb 1;42(5):373-498. doi: 10.1093/eurheartj/ehaa612.
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2020 ESC Guidelines for the management of acute coronary syndromes in patients presenting without persistent ST-segment elevation.2020年欧洲心脏病学会非持续性ST段抬高型急性冠状动脉综合征患者管理指南
Eur Heart J. 2021 Apr 7;42(14):1289-1367. doi: 10.1093/eurheartj/ehaa575.
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