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Epigenetics and precision medicine in cardiovascular patients: from basic concepts to the clinical arena
European Heart Journal ( IF 37.6 ) Pub Date : 2017-10-23 , DOI: 10.1093/eurheartj/ehx568
Sarah Costantino 1 , Peter Libby 2 , Raj Kishore 3, 4 , Jean-Claude Tardif 5, 6 , Assam El-Osta 7, 8, 9 , Francesco Paneni 1, 10
Affiliation  

Cardiovascular diseases (CVDs) remain the leading cause of mortality worldwide and also inflict major burdens on morbidity, quality of life, and societal costs. Considering that CVD preventive medications improve vascular outcomes in less than half of patients (often relative risk reductions range from 12% to 20% compared with placebo), precision medicine offers an attractive approach to refine the targeting of CVD medications to responsive individuals in a population and thus allocate resources more wisely and effectively. New tools furnished by advances in basic science and translational medicine could help achieve this goal. This approach could reach beyond the practitioners 'eyeball' assessment or venerable markers derived from the physical examination and standard laboratory evaluation. Advances in genetics have identified novel pathways and targets that operate in numerous diseases, paving the way for 'precision medicine'. Yet the inherited genome determines only part of an individual's risk profile. Indeed, standard genomic approaches do not take into account the world of regulation of gene expression by modifications of the 'epi'genome. Epigenetic modifications defined as 'heritable changes to the genome that do not involve changes in DNA sequence' have emerged as a new layer of biological regulation in CVD and could advance individualized risk assessment as well as devising and deploying tailored therapies. This review, therefore, aims to acquaint the cardiovascular community with the rapidly advancing and evolving field of epigenetics and its implications in cardiovascular precision medicine.

中文翻译:

心血管患者的表观遗传学和精准医学:从基本概念到临床领域

心血管疾病(CVD)仍然是全世界死亡的主要原因,也给发病率、生活质量和社会成本造成重大负担。考虑到 CVD 预防药物可以改善不到一半患者的血管结局(与安慰剂相比,相对风险通常降低 12% 至 20%),精准医学提供了一种有吸引力的方法,可以将 CVD 药物的目标细化到人群中有反应的个体从而更明智、更有效地分配资源。基础科学和转化医学的进步提供的新工具可以帮助实现这一目标。这种方法可以超越从业者的“眼球”评估或源自体检和标准实验室评估的古老标记。遗传学的进步已经确定了在多种疾病中发挥作用的新途径和靶点,为“精准医学”铺平了道路。然而,遗传基因组仅决定个人风险状况的一部分。事实上,标准基因组方法没有考虑通过修改“表观”基因组来调节基因表达的情况。表观遗传修饰被定义为“不涉及 DNA 序列变化的基因组遗传变化”,已成为 CVD 生物调控的新层,可以推进个体化风险评估以及设计和部署定制疗法。因此,本综述旨在让心血管界了解快速发展和发展的表观遗传学领域及其对心血管精准医学的影响。
更新日期:2017-10-23
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