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血脂和心血管事件遗传决定因素在风险评估中的作用。

Utility of genetic determinants of lipids and cardiovascular events in assessing risk.

机构信息

Genetic Epidemiology Group, Department of Epidemiology and Public Health, University College London, 1-19 Torrington Place, London WC1E 6BT, UK.

出版信息

Nat Rev Cardiol. 2011 Apr;8(4):207-21. doi: 10.1038/nrcardio.2011.6. Epub 2011 Feb 15.

Abstract

The prevention of coronary heart disease (CHD) is a major public-health goal, but disease architecture is such that a larger proportion of clinical events occur among the average majority than among the high-risk minority--the prevention paradox. Genetic findings over the past few years have resulted in the reopening of the old debate on whether an individualized or a population-based approach to prevention is preferable. Genetic testing is an attractive tool for CHD risk prediction because it is a low-cost, high-fidelity technology with multiplex capability. Moreover, by contrast with nongenetic markers, genotype is invariant and determined from conception, which eliminates biological variability and makes prediction from early life possible. Mindful of the prevention paradox, this Review examines the potential applications and challenges of using genetic information for predicting CHD, focusing on lipid risk factors and drawing on experience in the evaluation of nongenetic risk factors as screening tests for CHD. Many of the issues we discuss hold true for any late-onset common disease with modifiable risk factors and proven preventative strategies.

摘要

预防冠心病(CHD)是一个主要的公共卫生目标,但疾病结构使得更多的临床事件发生在普通人群中,而不是高危人群中——这就是预防悖论。过去几年的遗传发现导致了人们重新开始争论,是采用个体化还是基于人群的方法来进行预防更为可取。遗传检测是一种用于 CHD 风险预测的有吸引力的工具,因为它是一种低成本、高保真度、具有多重能力的技术。此外,与非遗传标志物相比,基因型是不变的,从概念上就已经确定,消除了生物学变异性,使得从生命早期进行预测成为可能。考虑到预防悖论,本综述探讨了使用遗传信息预测 CHD 的潜在应用和挑战,重点关注脂质风险因素,并借鉴了评估非遗传风险因素作为 CHD 筛查试验的经验。我们讨论的许多问题对于任何具有可改变的危险因素和已证实的预防策略的迟发性常见疾病都适用。

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