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常见的遗传变异调节心脏心电图参数和易感性猝死。

Common genetic variation modulating cardiac ECG parameters and susceptibility to sudden cardiac death.

机构信息

Heart Failure Research Center, Department of Experimental Cardiology, Academic Medical Center, Meibergdreef 15, 1105 AZ, Amsterdam, The Netherlands.

出版信息

J Mol Cell Cardiol. 2012 Mar;52(3):620-9. doi: 10.1016/j.yjmcc.2011.12.014. Epub 2012 Jan 8.

Abstract

Sudden cardiac death (SCD) is a prevalent cause of death in Western societies. Genome-wide association studies (GWAS) conducted over the last few years have uncovered common genetic variants modulating risk of SCD. Furthermore, GWAS studies uncovered several loci impacting on heart rate and ECG indices of conduction and repolarization, as measures of cardiac electrophysiological function and likely intermediate phenotypes of SCD risk. We here review these recent developments and their implications for the identification of novel molecular pathways underlying normal electrophysiological function and susceptibility to SCD.

摘要

心脏性猝死(SCD)是西方社会中普遍存在的死亡原因。过去几年进行的全基因组关联研究(GWAS)发现了调节 SCD 风险的常见遗传变异。此外,GWAS 研究还发现了几个影响心率和心电图传导及复极指数的位点,这些都是心脏电生理功能的指标,也是 SCD 风险的潜在中间表型。本文综述了这些最新进展及其对鉴定正常电生理功能和 SCD 易感性相关的新分子途径的意义。

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