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Circulation:与扩张型心肌病密切相关的12个基因罕见变异

2020-02-10 QQY MedSci原创

扩张型心肌病(DCM)是一种遗传异质性疾病,临床实验室检测到了100多个所谓的疾病基因。但许多基因最初是根据候选基因研究确定的,这些研究没有充分考虑到背景种群差异。在本研究中,研究人员在2538位DCM患者中评估了56个常用基因的蛋白编码区域罕见变异的突变频率,与912位健康对照和60706位参考人群的进行对比,以鉴定与显性单基因DCM密切相关的临床基因。研究人员采用TruSight心脏测序pan

扩张型心肌病(DCM)是一种遗传异质性疾病,临床实验室检测到了100多个所谓的疾病基因。但许多基因最初是根据候选基因研究确定的,这些研究没有充分考虑到背景种群差异。在本研究中,研究人员在2538位DCM患者中评估了56个常用基因的蛋白编码区域罕见变异的突变频率,与912位健康对照和60706位参考人群的进行对比,以鉴定与显性单基因DCM密切相关的临床基因。

研究人员采用TruSight心脏测序panel评估了1040名DCM患者和912名健康志愿者的56个推测的DCM基因罕见变异负荷。并进一步聚合了来自诊断实验室和外显子聚合联盟数据库中1498例DCM患者的数据,做重复和荟萃分析。

在所有对比分析中,TTN和DSP基因截短突变都与DCM相关,MYH7、LMNA、BAG3、TNNT2、TNNC1、PLN、ACTC1、NEXN、TPM1和VCL基因变异在特定的患者亚群中显著富集,后两种基因可能主要影响DCM的早期发病形式。总的来说,这12个基因的罕见变异可解释17%的门诊队列的成年DCM患者、26%的诊断转诊队列中的家族性和早发性DCM患者。

在截至目前最大的DCM测序队列中,研究人员观察到12个基因与DCM存在明显关联,强调了它们在DCM中的重要性和转化为诊断检测中的高可解释性。其他基因仍需进行的严格筛选评估。本研究数据将有助于社区基因管理工作,并将减少诊断检测中的错误和非结论性发现。

原始出处:

Francesco Mazzarotto, et al.Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.Circulation. 2020;141:387–398
 

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    2020-12-26 lsj637
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    2020-02-12 syscxl
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    2020-02-11 天地飞扬

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