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遗传学与高血压:是时候改变我的实践了吗?

Genetics and hypertension: is it time to change my practice?

机构信息

Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, Scotland, United Kingdom.

出版信息

Can J Cardiol. 2012 May;28(3):296-304. doi: 10.1016/j.cjca.2012.02.004. Epub 2012 Apr 5.

Abstract

Recent advances in genotyping technology and in particular a number of large-scale genome-wide association studies have helped to unravel the genetic basis of hypertension. Although our knowledge is still far from being complete it is important to ask how genetic findings could be translated to clinical practice. In a first step we summarize the strategies to dissect the genetics of hypertension from candidate gene studies to genome-wide association studies and recent sequencing experiments. The greatest hope in this context is the development of new drugs that are based on newly discovered pathophysiological principles. We describe examples where significant therapeutic effects are achieved with agents targeting pathways that contribute only small amounts to the genetic variability of a phenotype. There are good reasons to believe that new drugs will be developed based on genetic data in hypertension. We also highlight the potential for pharmacogenetics and risk stratification. The former is not currently supported by a larger body of evidence, but well designed studies are under way. The latter needs to follow the same principles for evaluation of other novel biomarkers of cardiovascular risk and is unlikely to influence clinical practice in the next few years.

摘要

近年来,基因分型技术的进步,特别是一些大规模的全基因组关联研究,有助于揭示高血压的遗传基础。尽管我们的知识还远远不够完善,但重要的是要问一下,遗传发现如何能够转化为临床实践。在第一步中,我们总结了从候选基因研究到全基因组关联研究和最近的测序实验来剖析高血压遗传的策略。在这方面,最大的希望是开发基于新发现的病理生理原理的新药。我们描述了一些例子,其中针对仅对表型遗传变异性产生少量贡献的途径的药物取得了显著的治疗效果。有充分的理由相信,基于高血压的遗传数据将开发出新的药物。我们还强调了药物遗传学和风险分层的潜力。前者目前没有大量证据支持,但正在进行精心设计的研究。后者需要遵循评估其他心血管风险新型生物标志物的相同原则,并且不太可能在未来几年内影响临床实践。

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