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心脏传导系统功能背后新出现的遗传格局。

The emerging genetic landscape underlying cardiac conduction system function.

作者信息

Arnolds David E, Chu Alison, McNally Elizabeth M, Nobrega Marcelo A, Moskowitz Ivan P

机构信息

Departments of Pediatrics and Pathology,The University of Chicago, 900 East 57th Street, Chicago, IL 60637, USA.

出版信息

Birth Defects Res A Clin Mol Teratol. 2011 Jun;91(6):578-85. doi: 10.1002/bdra.20800. Epub 2011 Apr 28.

Abstract

Proper function of an organized Cardiac Conduction System (CCS) is vital to the survival of metazoans ranging from fly to man. The routine use of non-invasive electrocardiogram measures in the diagnosis and monitoring of cardiovascular health has established a trove of reliable CCS functional data in both normal and diseased cardiac states. Recent combination of echocardiogram (ECG) data with genome-wide association studies has identified genomic regions implicated in ECG variability which impact CCS function. In this study, we review the substantial recent progress in this area, highlighting the identification of novel loci, confirming the importance of previously implicated loci in CCS function, and exploring potential links between genes with important roles in developmental processes and variation in function of the CCS.

摘要

一个有组织的心脏传导系统(CCS)的正常功能对于从果蝇到人类等后生动物的生存至关重要。在心血管健康的诊断和监测中常规使用非侵入性心电图测量方法,已经在正常和患病心脏状态下建立了大量可靠的CCS功能数据。最近将超声心动图(ECG)数据与全基因组关联研究相结合,已经确定了与ECG变异性相关的基因组区域,这些区域会影响CCS功能。在本研究中,我们回顾了该领域最近取得的重大进展,重点介绍了新位点的识别,确认了先前涉及的位点在CCS功能中的重要性,并探索了在发育过程中起重要作用的基因与CCS功能变异之间的潜在联系。

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