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Personalized medicine for cardiovascular diseases.
Journal of Human Genetics ( IF 3.5 ) Pub Date : 2020-08-08 , DOI: 10.1038/s10038-020-0818-7
Hayato Tada 1 , Noboru Fujino 1 , Akihiro Nomura 1 , Chiaki Nakanishi 1 , Kenshi Hayashi 1 , Masayuki Takamura 1 , Masa-Aki Kawashiri 1
Affiliation  

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.



中文翻译:

心血管疾病的个性化药物。

个性化医学是一个新兴概念,涉及根据患者的个人特征(包括特定基因型)管理患者的健康状况。心血管疾病是可遗传的特征,家族史信息可用于风险预测。这样,确定遗传信息(生殖系遗传突变)也可以应用于风险预测。此外,越来越多的证据表明,遗传背景可以为具有特定基因型的个体选择有效的治疗方法和预防策略提供指导。这些概念可能适用于罕见的孟德尔疾病和常见的复杂性状。在这篇评论中,我们定义了概念并提供了基于人类遗传学的心血管疾病(包括冠心病,心律不齐,和心肌病。我们还特别关注孟德尔随机研究,尤其是那些检查功能丧失的遗传变异的研究,以识别高危人群以及可能是改善无心血管事件健康生活的有用靶点的信号通路。

更新日期:2020-08-09
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