JAHA:RNF213突变体在颅内动脉粥样硬化患者血管结局中的作用

2020-12-27 MedSci原创 MedSci原创

环指蛋白213基因(RNF213)突变体R4810K是不仅是东亚人群Moyamoya病(MMD)而且是颅内动脉粥样硬化(ICAS)的易感等位基因。近日,心血管疾病领域权威杂志JAHA上发表了一篇研究文

环指蛋白213基因(RNF213)突变体R4810K是不仅是东亚人群Moyamoya病(MMD)而且是颅内动脉粥样硬化(ICAS)的易感等位基因。近日,血管疾病领域权威杂志JAHA上发表了一篇研究文章,研究人员假设这种突变体会影响ICAS的分布和脑血管事件的复发情况。

研究人员使用高分辨率磁共振成像和RNF213 R4810K基因分型对ICAS和MMD患者进行了前瞻性研究。当高分辨率磁共振成像检查发现相关斑块时,患者被纳入ICAS组;当携带突变体且高分辨率磁共振成像检查未发现斑块但具有MMD特征时,则被纳入MMD组。研究人员比较了ICAS‐RNF213+患者、ICAS‐RNF213−患者和MMD患者的临床和神经影像学特征。

在477例患者中,ICAS组有238例,MMD组有239例。在ICAS患者中,ICAS-RNF213+组为79例(33.2%),而ICAS-RNF213-组为159例(66.8%)。在ICAS-RNF213+组中,串联病变明显比在ICAS-RNF213-组中更为常见(40.3% vs. 72.2%,P<0.001),并且在ICAS-RNF213+和MMD组之间分布相似。R4810K突变体(风险比[HR]为3.203;95%CI为1.149–9.459;P=0.026)和串联病变(≥3)(HR为8.315;95%CI为1.930–39.607;P=0.005)与复发性脑血管事件独立相关。

由此可见,携带RNF213 R4810K突变体的ICAS患者的临床和影像学特征与没有携带突变体的ICAS患者不同,这表明R4810K突变在颅内动脉粥样硬化发病中起作用。

原始出处:

Hyung Jun Kim.et al.Role of the RNF213 Variant in Vascular Outcomes in Patients With Intracranial Atherosclerosis.J AM HEART ASSOC.2020.https://www.ahajournals.org/doi/full/10.1161/JAHA.120.017660

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    2020-12-29 zhaohui6731
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    2020-12-27 oo902

    NF213突变体在颅内动脉粥样硬化患者血管结局中的作用

    0

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    2020-12-27 医路顺丰

    很好的文章,学习了

    0

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    2020-12-27 ms2000001051330459

    学习了,涨知识了!

    0

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