Genome-wide association for heart failure: from discovery to clinical use.
Genome-wide association for heart failure: from discovery to clinical use.
复制标题
心力衰竭的全基因组关联：从发现到临床应用。
DOI：
10.1093/eurheartj/ehab172
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发表时间：
2021
影响因子：
39.3
通讯作者：
McNally,ElizabethM
中科院分区：
文献类型：
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作者：
Fullenkamp,DominicE;Puckelwartz,MeganJ;McNally,ElizabethM
Garnier等人的工作揭示了多基因风险评分有助于扩张型心肌病（DCM）。众所周知，单基因突变也易导致扩张型心肌病。这些遗传决定因素可与高血压（HTN）、冠状动脉疾病（CAD）和代谢综合征（MetS）等其他风险结合，进一步增加扩张型心肌病和心力衰竭（HF）的风险。心衰影响全球约2600万人，是一种高度遗传性疾病。造成HF遗传成分的遗传因素来自于高效罕见变异和低效常见变异的结合。单基因对DCM的贡献已经得到了很好的表征，临床检测确定这些等位基因对心律失常风险预测和家庭成员管理很有用。与以家庭为基础的基因检测不同，全基因组关联研究（GWAS）也有助于定义基因
The work of Garnier et al. reveals a polygenic risk score that contributes to dilated cardiomyopathy (DCM). It is known that monogenic mutations also predispose to dilated cardiomyopathy. These genetic determinants can combine with other risks such as hypertension (HTN), coronary artery disease (CAD), and metabolic syndrome (MetS) to further increase risk for dilated cardiomyopathy and heart failure (HF).HF affects> 26 million people worldwide, and is a highly heritable condition. The genetic contributions responsible for this heritable component of HF arise from a combination of high-effect rare variants and low-effect common variants. The monogenic contributions to DCM have been well characterized, and clinical testing to define these alleles is useful for arrhythmia risk prediction and family member management. Distinct from family-based genetic testing, genomewide association studies (GWAS) have also been useful to define the