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冠状动脉疾病一级预防的基因分层

Genetic stratification for primary prevention of coronary artery disease.

作者信息

Roberts Robert, Campillo Arlene

机构信息

University of Arizona College of Medicine.

International Society of Cardiovascular Translational Research (ISCTR), Phoenix, USA.

出版信息

Curr Opin Cardiol. 2018 Sep;33(5):529-534. doi: 10.1097/HCO.0000000000000542.

Abstract

PURPOSE OF REVIEW

To review the literature showing genetic risk variants is a reliable means of stratifying for risk of CAD for primary prevention.

RECENT FINDINGS

Over 90 genetic risk variants have been discovered that predispose to CAD. Results of several studies show that these risk variants effectively stratify for risk of CAD in asymptomatic individuals.

SUMMARY

The total individual genetic risk can be summarized into a single number referred to as the genetic risk score (GRS). The GRS unlike the Framingham Risk Score is not dependent on age and independent of conventional risk factors. As DNA does not change during one's lifetime the GRS can be calculated at birth or any time thereafter. Furthermore, the GRS has been shown to provide superior discriminatory power in selecting individuals who will benefit most from lifestyle changes or statin therapy. A prospective study showed individuals with high GRS and a favorable lifestyle was associated with significant reduction of cardiac events compared with an unfavorable lifestyle. Furthermore, the study shows inherited risk can be reduced analogous to reduction of risk form acquired and environmental factors. The use of GRS to stratify for risk of CAD in asymptomatic individuals could transform primary prevention worldwide.

摘要

综述目的

回顾相关文献,表明遗传风险变异是对冠心病一级预防风险进行分层的可靠方法。

最新发现

已发现90多种导致冠心病的遗传风险变异。多项研究结果表明,这些风险变异能有效对无症状个体的冠心病风险进行分层。

总结

个体的总体遗传风险可归纳为一个称为遗传风险评分(GRS)的单一数值。与弗雷明汉风险评分不同,GRS不依赖于年龄且独立于传统风险因素。由于DNA在人的一生中不会改变,GRS可以在出生时或之后的任何时间计算。此外,GRS已被证明在选择将从生活方式改变或他汀类药物治疗中获益最大的个体方面具有卓越的鉴别能力。一项前瞻性研究表明,与不良生活方式相比,高GRS且生活方式良好的个体心脏事件显著减少。此外,该研究表明,遗传风险的降低类似于后天和环境因素导致的风险降低。在无症状个体中使用GRS对冠心病风险进行分层可能会改变全球的一级预防。

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