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在中国人群中构建和优化静脉血栓栓塞的多基因风险模型
Chao Liu1, Jiaxuan Hou1, Weiming Li1
1Department of Vascular Surgery, The First Affiliated Hospital of Xi'an JiaoTong University, Xi'an, People's Republic of China.
Journal of vascular surgery. Venous and lymphatic disorders
|August 24, 2023
概括
开发了一种新的多基因风险评分 (PRS) 模型,以预测中国人群中静脉血栓塞栓症 (VTE) 遗传风险. 53-SNP和10-SNP模型都显示出有效的预测,而10-SNP模型在临床上更有效.
科学领域:
- 遗传学 是一个遗传学.
- 血栓形成研究研究
- 人口健康 人口健康
背景情况:
- 静脉血栓塞栓症 (VTE) 受环境和遗传因素的影响.
- 多基因风险评分 (PRS) 对于预测VTE遗传倾向至关重要,因为这种疾病的复杂多基因性质.
- 目前,中国人口没有建立的PRS模型,这凸显了VTE风险评估中的重大差距.
研究的目的:
- 开发和验证一个多基因风险评分 (PRS) 模型,用于预测中国人口中第一个VTE发作.
- 确定关键的单核酸多态 (SNPs) 导致VTE风险在这个人口.
- 评估开发的PRS模型的预测性能和临床实用性.
主要方法:
- 从现有的遗传研究中对53个与VTE相关的SNP进行查.
- 使用基于几率比率的对数的加权SNP构建PRS模型.
- 用1000个VTE病例和1000个对照组的模拟训练集验证PRS模型的区分能力,通过接受器运行特征曲线 (AUC) 下的面积进行评估.
主要成果:
- 一个包含53个SNP (PRS-53) 的PRS模型实现了0.748的AUC (95%CI,0.727-0.770).
- 一个具有10个SNP (PRS-10) 的优化PRS模型的AUC值为0.718 (95%CI,0.696-0.740).
- 在PRS-53和PRS-10模型之间没有观察到预测能力的统计学上显著差异.
结论:
- 两种PRS-10和PRS-53模型都显示出对中国人群中首次VTE发作的遗传风险具有可比且令人满意的预测能力.
- 简化的PRS-10模型为实际临床应用提供了更高的效率.
- 这些PRS模型为评估中国人的VTE遗传风险提供了有价值的工具.
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