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基因变异对药物效应的影响——长 QT 综合征和短 QT 综合征基因导向药物治疗的基础。

Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.

机构信息

Heart Center of Henan Provincial People's Hospital, Central China Fuwai Hospital, Central China Fuwai Hospital of Zhengzhou University, Zhengzhou, Henan, 450003, China.

Department of Orthopaedic, Henan Provincial People's Hospital; Zhengzhou University People's Hospital, Zhengzhou, Henan, 450003, China.

出版信息

EBioMedicine. 2024 May;103:105108. doi: 10.1016/j.ebiom.2024.105108. Epub 2024 Apr 22.

Abstract

The clinical significance of optimal pharmacotherapy for inherited arrhythmias such as short QT syndrome (SQTS) and long QT syndrome (LQTS) has been increasingly recognised. The advancement of gene technology has opened up new possibilities for identifying genetic variations and investigating the pathophysiological roles and mechanisms of genetic arrhythmias. Numerous variants in various genes have been proven to be causative in genetic arrhythmias. Studies have demonstrated that the effectiveness of certain drugs is specific to the patient or genotype, indicating the important role of gene-variants in drug response. This review aims to summarize the reported data on the impact of different gene-variants on drug response in SQTS and LQTS, as well as discuss the potential mechanisms by which gene-variants alter drug response. These findings may provide valuable information for future studies on the influence of gene variants on drug efficacy and the development of genotype-guided or precision treatment for these diseases.

摘要

临床已经越来越认识到优化抗心律失常药物治疗遗传性心律失常(如短 QT 综合征[SQTS]和长 QT 综合征[LQTS])的重要性。基因技术的进步为识别基因变异以及研究遗传心律失常的病理生理作用和机制开辟了新的可能性。许多不同基因中的变异已被证明与遗传性心律失常有关。研究表明,某些药物的疗效具有患者或基因型特异性,这表明基因变异在药物反应中的重要作用。本综述旨在总结有关不同基因变异对 SQTS 和 LQTS 药物反应影响的报告数据,并讨论基因变异改变药物反应的潜在机制。这些发现可能为未来研究基因变异对药物疗效的影响以及为这些疾病制定基于基因型或精准治疗的方案提供有价值的信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b0fc/11041837/4ad84c5fdd1e/gr1.jpg

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