Genetics of coronary artery disease: discovery, biology and clinical translation.

Genetics of coronary artery disease: discovery, biology and clinical translation.
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DOI:
10.1038/nrg.2016.160
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发表时间:
2017-06
期刊:
Nature reviews. Genetics
影响因子:
--
通讯作者:
Kathiresan S
Kathiresan S
中科院分区:
其他
文献类型:
--
作者:
Khera AV;Kathiresan S

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冠状动脉疾病是全球主要的死亡原因。长期以来被认为是遗传性的,最近的进展已经开始解开疾病的遗传结构。常见的变异关联研究已经将大约60个遗传位点与冠状动脉风险联系起来。大规模的基因测序工作和功能研究促进了对因果风险因素的更好理解,阐明了潜在的生物学,并为新疗法的开发提供了信息。展望未来,基因检测可以通过识别CAD风险增加的患者亚组或具有特定驾驶病理生理学的患者亚组来实现精准医学方法,其中治疗或预防方法最有用。
Coronary artery disease is the leading global cause of mortality. Long recognized to be heritable, recent advances have started to unravel the genetic architecture of the disease. Common variant association studies have linked about 60 genetic loci to coronary risk. Large-scale gene sequencing efforts and functional studies have facilitated a better understanding of causal risk factors, elucidated underlying biology and informed the development of new therapeutics. Moving forward, genetic testing could enable precision medicine approaches, by identifying subgroups of patients at increased risk of CAD or those with a specific driving pathophysiology in whom a therapeutic or preventive approach is most useful.
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