Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.
J Hum Genet. 2021 Jan;66(1):67-74. doi: 10.1038/s10038-020-0818-7. Epub 2020 Aug 8.
Personalized medicine is an emerging concept involving managing the health of patients based on their individual characteristics, including particular genotypes. Cardiovascular diseases are heritable traits, and family history information is useful for risk prediction. As such, determining genetic information (germline genetic mutations) may also be applied to risk prediction. Furthermore, accumulating evidence suggests that genetic background can provide guidance for selecting effective treatments and preventive strategies in individuals with particular genotypes. These concepts may be applicable both to rare Mendelian diseases and to common complex traits. In this review, we define the concept and provide examples of personalized medicine based on human genetics for cardiovascular diseases, including coronary artery disease, arrhythmia, and cardiomyopathies. We also provide a particular focus on Mendelian randomization studies, especially those examining loss-of function genetic variations, for identifying high-risk individuals, as well as signaling pathways that may be useful targets for improving healthy living without cardiovascular events.
个体化医学是一个新兴的概念，涉及根据患者的个体特征（包括特定的基因型）来管理其健康。心血管疾病是遗传特征，家族史信息对风险预测有用。因此，确定遗传信息（种系基因突变）也可用于风险预测。此外，越来越多的证据表明，遗传背景可为具有特定基因型的个体提供有效治疗和预防策略的选择提供指导。这些概念既适用于罕见的孟德尔疾病，也适用于常见的复杂特征。在这篇综述中，我们定义了个体化医学的概念，并提供了基于人类遗传学的心血管疾病个体化医学的示例，包括冠状动脉疾病、心律失常和心肌病。我们还特别关注孟德尔随机化研究，特别是那些研究功能丧失遗传变异的研究，以确定高风险个体，以及可能是改善心血管事件无健康生活的有用靶点的信号通路。
