根据ABO,F8和VWF变异在基于人口的队列研究中确定血栓风险
Eric Manderstedt1, Christer Halldén1, Christina Lind-Halldén2
1Center for Primary Health Care Research, Lund University and Region Skåne, Malmö, Sweden.
Research and practice in thrombosis and haemostasis
|June 9, 2025
概括
ABO,F8和VWF基因的常见变异与静脉血栓栓塞 (VTE) 风险有关. 结合这些变体的风险评分显示了与VTE相关的VTE相关性,类似于V Leiden因子.
科学领域:
- 遗传学 是一个遗传学.
- 血栓形成研究研究
- 流行病学 流行病学
背景情况:
- ·威勒布兰德因子 (VWF) 和凝血因子VIII (FVIII) 的血水平与静脉血栓塞栓症 (VTE) 的风险增加相关.
- 了解VTE的遗传倾向对于风险分层和预防策略至关重要.
研究的目的:
- 为了研究与以前与VWF或FVIII血水平相关的27个基因中的罕见和常见遗传变异相关的血栓形成风险.
- 确定有助于发展VTE的风险的特定遗传标记.
主要方法:
- 分析了来自28794名没有VTE (马尔默饮食和癌症研究) 个体的全基因组关联研究 (GWAS) 数据.
- 对常见和罕见变异进行了选;罕见变异 (<0.1%) 进行了分析.
- 计算了危险比率 (HRs),并对多次比较进行了邦费罗尼校正 (P < .0019).
主要成果:
- 对于27个基因中的罕见变异,没有发现有意义的VTE关联.
- 三种常见变异与VTE有显著的关联:在ABO中rs8176719,在F8中rs1800291和在VWF中rs1063856.
- 这三种变异的综合风险得分表明了与VTE的剂量依赖性关联,其中5个风险等位基因显示HR为2.8.
- 这种VTE风险评分的预测性能与Factor V Leiden的预测性能相当.
结论:
- 在ABO,F8和VWF基因中常见的遗传变异与静脉瘤风险有显著的关联.
- 包含这三个常见变体的风险评分为VTE提供了类似于Factor V Leiden的预测能力.
- 这些发现突显了常见的遗传变异在VTE病变发生中的作用,并可能有助于识别更高风险的个体.
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