心血管疾病和中风中表达的基因组:改进、诊断和预测:美国心脏协会的科学声明。

Kiran Musunuru, Erik Ingelsson, Myriam Fornage, Peter Liu, Anne M Murphy, L Kristin Newby, Christopher Newton-Cheh, Marco V Perez, Deepak Voora, Daniel Woo
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引用次数: 32

摘要

我们对DNA序列变异对心血管疾病和中风的影响的认识取得了重大进展。然而,身体的内部运作反映了DNA序列之外因素的复杂相互作用,包括表观遗传修饰、RNA转录物、蛋白质和代谢物,这些因素可以被认为是“表达的基因组”。高通量技术的出现,包括表观基因组学、转录组学、蛋白质组学和代谢组学,现在使得解决表达基因组对心血管疾病的贡献成为可能。该声明描述了目前和将来表达的基因组如何可能被用于诊断疾病和预测谁将患上冠状动脉疾病、中风、心力衰竭和心律失常等疾病。
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The Expressed Genome in Cardiovascular Diseases and Stroke: Refinement, Diagnosis, and Prediction: A Scientific Statement From the American Heart Association.

There have been major advances in our knowledge of the contribution of DNA sequence variations to cardiovascular disease and stroke. However, the inner workings of the body reflect the complex interplay of factors beyond the DNA sequence, including epigenetic modifications, RNA transcripts, proteins, and metabolites, which together can be considered the "expressed genome." The emergence of high-throughput technologies, including epigenomics, transcriptomics, proteomics, and metabolomics, is now making it possible to address the contributions of the expressed genome to cardiovascular disorders. This statement describes how the expressed genome can currently and, in the future, potentially be used to diagnose diseases and to predict who will develop diseases such as coronary artery disease, stroke, heart failure, and arrhythmias.

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来源期刊
Circulation: Cardiovascular Genetics
Circulation: Cardiovascular Genetics CARDIAC & CARDIOVASCULAR SYSTEMS-GENETICS & HEREDITY
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0
审稿时长
6-12 weeks
期刊介绍: Circulation: Genomic and Precision Medicine considers all types of original research articles, including studies conducted in human subjects, laboratory animals, in vitro, and in silico. Articles may include investigations of: clinical genetics as applied to the diagnosis and management of monogenic or oligogenic cardiovascular disorders; the molecular basis of complex cardiovascular disorders, including genome-wide association studies, exome and genome sequencing-based association studies, coding variant association studies, genetic linkage studies, epigenomics, transcriptomics, proteomics, metabolomics, and metagenomics; integration of electronic health record data or patient-generated data with any of the aforementioned approaches, including phenome-wide association studies, or with environmental or lifestyle factors; pharmacogenomics; regulation of gene expression; gene therapy and therapeutic genomic editing; systems biology approaches to the diagnosis and management of cardiovascular disorders; novel methods to perform any of the aforementioned studies; and novel applications of precision medicine. Above all, we seek studies with relevance to human cardiovascular biology and disease.
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