Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy
Massive parallel sequencing questions the pathogenic role of missense variants in dilated cardiomyopathy
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DOI：
10.1016/j.ijcard.2016.11.066
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发表时间：
2017-02-01
影响因子：
3.5
通讯作者：
Bergo, Martin O.
中科院分区：
文献类型：
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作者：
Dalin, Martin G.;Engstrom, Par G.;Bergo, Martin O.
背景：生殖系遗传变异是扩张型心肌病（DCM）的重要原因。然而，最近的测序研究显示，在没有已知心脏病的个体中也存在DCM相关基因的罕见变异。在这项研究中，我们调查了瑞典DCM患者的变异流行率和基因型-表型相关性，并将其遗传变异与参考cohols.Methods和结果进行了比较：我们对176例无关的特发性DCM患者的41个DCM相关基因的编码区进行了测序，发现了102个蛋白质改变变异，等位基因频率为100%。
Background: Germline genetic variants are an important cause of dilated cardiomyopathy (DCM). However, recent sequencing studies have revealed rare variants in DCM-associated genes also in individuals without known heart disease. In this study, we investigate variant prevalence and genotype-phenotype correlations in Swedish DCM patients, and compare their genetic variants to those detected in reference cohorts.Methods and results: We sequenced the coding regions of 41 DCM-associated genes in 176 unrelated patients with idiopathic DCM and found 102 protein-altering variants with an allele frequency of