[Role of genetics in precision medicine of coronary artery disease].

IF 1.1 4区 医学 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS
Herz Pub Date : 2025-04-01 Epub Date: 2025-02-28 DOI:10.1007/s00059-025-05297-y
V Sanin, R S Schmieder, W Koenig, L Li, H Schunkert, Z Chen
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引用次数: 0

Abstract

Coronary artery disease (CAD) develops multifactorially through an interplay of lifestyle, environmental and genetic factors. Smoking, hypertension, hyperlipidemia, obesity and diabetes mellitus are modifiable risk factors for CAD. In addition, both rare mutations and multiple frequently occurring genetic variants can cause CAD, whereby the heritability of CAD is ca. 50%. Genetic diagnostics enable the early identification of affected children and adults and, based on a greatly increased cardiovascular risk, initiation of preventive treatment. In recent years, genome-wide association studies have identified hundreds of significant variants that together greatly increase the risk of CAD. In the general population the many frequently occurring risk alleles in combination with modifiable risk factors result in a widespread genetic predisposition to CAD. Their relevance arises in the context of an integrative risk assessment, whereby the additional genetic risk can be calculated by polygenic risk scores (PRS), which provide a hazard ratio that can be multiplied with the clinically determined risk. This overview article discusses the diagnostic principles of rare and frequent genetic causes of CAD as well as their implications in the precision treatment of the disease.

[遗传学在冠心病精准医学中的作用]。
冠状动脉疾病(CAD)的发展是多因素的,是生活方式、环境和遗传因素相互作用的结果。吸烟、高血压、高脂血症、肥胖和糖尿病是冠心病可改变的危险因素。此外,罕见突变和多种频繁发生的遗传变异都可导致CAD,其中CAD的遗传率约为50%。遗传诊断能够早期识别受影响的儿童和成人,并在心血管风险大大增加的情况下开始预防性治疗。近年来,全基因组关联研究已经确定了数百种显著的变异,这些变异极大地增加了冠心病的风险。在一般人群中,许多经常发生的危险等位基因与可改变的危险因素相结合,导致广泛的CAD遗传易感性。它们的相关性出现在综合风险评估的背景下,即额外的遗传风险可以通过多基因风险评分(PRS)来计算,多基因风险评分提供了一个风险比,可以与临床确定的风险相乘。这篇综述文章讨论了罕见和常见的CAD的遗传原因的诊断原则,以及他们在疾病的精确治疗的意义。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Herz
Herz 医学-心血管系统
CiteScore
3.00
自引率
5.90%
发文量
61
审稿时长
4-8 weeks
期刊介绍: Herz is the high-level journal for further education for all physicians interested in cardiology. The individual issues of the journal each deal with specific topics and comprise review articles in English and German written by competent and esteemed authors. They provide up-to-date and comprehensive information concerning the speciality dealt with in the issue. Due to the fact that all relevant aspects of the pertinent topic of an issue are considered, an overview of the current status and progress in cardiology is presented. Reviews and original articles round off the spectrum of information provided.
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