通过多基因风险评分与分级表型化,通过多基因风险评分识别患有外科上动脉狭窄风险的个体
D Liu1, C B Mervis2, M D Levin1
1National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.
medRxiv : the preprint server for health sciences
|October 7, 2024
概括
多基因风险评分 (PRS) 有效预测威廉姆斯综合征 (WS) 中的上大动脉狭窄症 (SVAS) 严重程度. 开发的PRS显示出高精度和临床使用潜力,用于管理WS患者的SVAS.
科学领域:
- 遗传学 是一个遗传学.
- 心血管疾病 心血管疾病
- 罕见疾病 罕见疾病
背景情况:
- 威廉姆斯综合征 (WS) 与不同严重程度的上大动脉狭窄 (SVAS) 有关.
- 之前的研究已经确定了1064个与WS患者的SVAS严重程度相关的遗传变异.
研究的目的:
- 开发和验证多基因风险评分 (PRS) 以预测WS患者的SVAS严重程度.
- 评估PRS在区分SVAS严重程度水平中的临床实用性.
主要方法:
- 利用聚合和值 (CT) 和拉索方法从1064个已识别的变体中开发PRS.
- 在217名WS参与者中使用了三分之二的培训和三分之一的测试.
- 在一个独立的队列中评估了138名WS患者的PRS表现,其中包括中度SVAS严重程度的患者.
主要成果:
- 基于CT的PRS使用622和320个变体实现了曲线下的面积 (AUC) >0.99.
- 与CT方法相比,拉索方法的性能较低.
- 在区分外科手术和中级SVAS严重程度组时,PRS实现了10%以下的错误分类率.
结论:
- 多基因风险评分,特别是使用CT方法开发的风险评分,在预测威廉姆斯综合征中SVAS严重程度方面非常有效.
- 开发的PRS有望在临床应用中分层SVAS风险和指导WS患者的管理.
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