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多基因小组用于静脉血栓塞栓症中的血栓友好症测试

Andreas Verstraete¹, Mae Jeraldine De Vera², Christine Van Laer³

¹Department of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.

Journal of thrombosis and haemostasis : JTH

|January 12, 2025

概括

一个多基因小组在63%的静脉血栓塞栓症 (VTE) 患者中发现了遗传变异,比传统测试要多得多. 这种先进的基因测试为VTE患者提供了对遗传性血栓性病的更深入的见解.

科学领域:

遗传学遗传学是一个
血液学血液学血液学
分子生物学分子生物学

背景情况:

传统的遗传性血栓友病测试只能在约40%的静脉血栓栓塞 (VTE) 患者中确定致病性遗传变异.
下一代测序 (NGS) 能够在众多凝血基因中检测变异,但其用于VTE诊断的临床实用性尚未得到充分证实.

研究的目的:

评估用于VTE诊断的多基因凝血小组的研究结果.
评估该小组与临床实践中常规血栓友爱检测的互补性.

主要方法:

在2019年1月至2023年12月期间,对194名VTE患者进行了回顾性分析,这些患者使用了血栓形成-血液静止多基因 (THG) 面板 (31个基因) 进行了测试.
将THG小组结果与传统血栓友好症测试进行比较.
对患者特征的分析与THG小组的积极结果相关.

主要成果:

THG小组在63%的VTE患者中检测到遗传变异,其中一半被归类为 (可能) 致病变异 ((L) PVs).
该小组在41%的患者中确定了 (L) PV或未知意义的变异,这些患者的结果会被传统测试遗漏.
在19%的患者中发现了多个基因的遗传变异.

结论:

与传统方法相比,多基因THG小组显著提高了VTE患者遗传血栓友的检测率.
虽然THG小组为与VTE相关的遗传倾向提供了更广泛的见解,但它对患者管理的直接影响需要进一步的临床研究.

关键词:

基因检测基因检测是指基因检测.多基因面板的组件.血栓友爱症 (Thrombophilia) 是一种发生血栓友爱的疾病.静脉血栓塞栓症是一种静脉血栓塞栓.

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