Advances in the Genetics and Genomics of Heart Failure.

Advances in the Genetics and Genomics of Heart Failure.
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DOI:
10.1007/s11886-020-01385-z
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发表时间:
2020-09-10
影响因子:
3.7
通讯作者:
Owens AT
Owens AT
中科院分区:
医学3区
文献类型:
--
作者:
Reza N;Owens AT

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本文就扩张型心肌病和心力衰竭的遗传学和基因组学研究进展作一综述。在过去的十年中,发现心力衰竭遗传贡献的方法已经从通过连锁研究和候选基因研究调查孟德尔心肌病中涉及的罕见变异发展到通过大规模全基因组关联和基因组优先研究探索常见变异的贡献。多个病例对照心力衰竭队列的组合和整合、心力衰竭表型的细化以及与电子健康记录相关的大型生物库的利用,推进了对心力衰竭遗传性的理解。
The purpose of this review is to provide an update on the recent advances in the genetics and genomics of dilated cardiomyopathy and heart failure. Over the last decade, the approach to the discovery of the genetic contribution to heart failure has evolved from investigation of rare variants implicated in Mendelian cardiomyopathies through linkage studies and candidate gene studies to the exploration of the contribution of common variants through large-scale genome-wide association and genome-first studies. The combination and integration of multiple of case-control heart failure cohorts, refinement of the heart failure phenotype, and utilization of large biobanks linked to electronic health records have advanced the understanding of the heritability of heart failure.
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