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高脂血症的个体化医学:药物遗传学在他汀类药物治疗中的作用。

Personalised medicine in hypercholesterolaemia: the role of pharmacogenetics in statin therapy.

机构信息

Department of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.

出版信息

Ann Med. 2020 Dec;52(8):462-470. doi: 10.1080/07853890.2020.1800074. Epub 2020 Aug 24.

Abstract

Statins are the first-line choice in Lipid-lowering therapy to reduce cardiovascular risk. In a continuous attempt to optimise treatment success, there is a need for additional research on genes and related molecular pathways that can determine the efficacy and toxicity of lipid-lowering drugs. Several variations within genes associated with lipid metabolism, including those involved in uptake, distribution and metabolism of statins have been reported. The purpose of this study was to evaluate the effect of genetic variations in the key genes responsible for statins' metabolism and their role in personalised medicine and pharmacogenetic testing (PGx) in patients treated with such drugs. Genetic assessment for specific known SNPs within the most known genes such as , and , appears likely to predict the efficacy of statin therapy and prevent their side effects but does not necessarily reduce the risk of cardiovascular events. Key Messages Hypercholesterolaemia patients show different response to statin therapy. Several variations within genes associated with statin metabolism have been investigated. Genetic assessment for specific known SNPs within the most known genes may improve the efficacy of statins treatment and prevent their side effects.

摘要

他汀类药物是降低心血管风险的降脂治疗的首选。为了不断优化治疗效果,需要进一步研究与基因和相关分子途径相关的研究,这些基因和途径可以决定降脂药物的疗效和毒性。已经报道了与脂质代谢相关的基因内的几种变异,包括参与他汀类药物摄取、分布和代谢的基因。本研究旨在评估负责他汀类药物代谢的关键基因的遗传变异及其在接受此类药物治疗的患者的个体化医学和药物遗传学检测(PGx)中的作用。对最知名基因(如 SLCO1B1、ABCG2 和 HMGCR)内特定已知单核苷酸多态性(SNP)的遗传评估似乎可能预测他汀类药物治疗的疗效并预防其副作用,但不一定降低心血管事件的风险。

关键信息

高胆固醇血症患者对他汀类药物治疗的反应不同。已研究与他汀类药物代谢相关的基因内的几种变异。对最知名基因内特定已知 SNP 的遗传评估可能会提高他汀类药物治疗的疗效并预防其副作用。

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