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开发一个MassARRAY基因型平台及其临床应用在泰国患者静脉血栓栓塞风险评估的临床应用

Dollapak Apipongrat^1,2, Chonlada Laoruangroj², Oytip Nathalang³

¹Department of Pathology, Phramongkutklao College of Medicine, Bangkok 10400, Thailand.

Medical sciences (Basel, Switzerland)

|December 24, 2025

概括

遗传因素影响泰国人的静脉血栓塞栓症 (VTE) 风险. 一个新的基因定型小组确定了特定的遗传变异和多基因风险评分 (PRS),预测VTE复发,推进精准医学.

科学领域:

基因组学和精准医学精准医学
血栓形成和血液静止研究研究
人口遗传学人口遗传学

背景情况:

静脉血栓栓塞 (VTE) 是一种复杂的疾病,具有遗传和环境影响,显示出特定人群的易感性.
关于亚洲人群中,特别是泰国人群中VTE相关的遗传变异的数据有限.
了解不同人群中的遗传风险因素对于推进精准医学至关重要.

研究的目的:

开发和评估一个39个单核酸多态 (SNP) 基因型测定小组,用于在泰国队列中评估VTE风险.
为了确定与泰国人VTE相关的特定遗传变异.
评估多基因风险评分 (PRS) 对预测VTE复发的有用性.

主要方法:

使用MassARRAY平台开发了一个39-SNP基因型化小组.
从泰国队列中基因型化了122名VTE患者和87名健康对照.
比较了等位基因频率和评估了SNP与VTE的关联;构建了一个整合遗传和临床因素的PRS.

主要成果:

七个SNP显示了与VTE的显著关联:五个风险等位基因 (PROC,ABO,FGG,F11,HIVEP1) 和两个保护性等位基因 (F5,TGFB2).
较高的PRS与静脉瘤复发有显著的相关性,特别是在未引起的病例中 (HR = 3.53).
这项研究提供了第一个关于泰国人VTE人口特异性遗传风险因素的系统证据.

结论:

基于MassARRAY的面板是SNP检测的成本效益高,高通量工具,支持基因组研究和个性化风险分层.
确定了泰国人VTE的人口特异性遗传风险因素.
该PRS证明了预测VTE复发的临床潜力,强调了在遗传研究中包括多样化的种群的重要性.

关键词:

马萨瑞瑞 (MassARRAY) 是一个泰国人口泰国人口遗传倾向遗传倾向遗传倾向多基因风险评分 (PRS)单核酸多态性 (SNP) 是一种单核酸多态性.静脉血栓塞栓症 (VTE) 是一种

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