周围动脉疾病和主要不良四肢事件的多基因预测
Alyssa M Flores1,2,3,4, Yunfeng Ruan2,3, Anika Misra2,3
1Division of Vascular and Endovascular Surgery, Department of Surgery, Massachusetts General Hospital, Boston.
JAMA cardiology
|May 21, 2025
概括
对外围动脉疾病 (PAD) 的新多基因风险评分有效地识别了患有这种疾病和肢体不良事件的高风险个体. 这种基因风险分层工具显示为指导PAD查和管理策略的有希望.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 心血管疾病研究研究
- 个性化医疗是个性化的医疗.
背景情况:
- 周围动脉疾病 (PAD) 是一种遗传性动脉样硬化病,与功能衰退和肢体丧失有关.
- 对PAD遗传基础的越来越多的理解为使用多基因风险评分 (PRSs) 早期风险识别提供了机会.
研究的目的:
- 开发和评估一种新的,综合的,多祖先多基因PAD评分 (PRS-PAD).
- 评估PRS-PAD在不同人群中估计PAD风险和主要不良肢体事件的有效性.
主要方法:
- 纵向队列研究利用基因型和电子健康记录数据来自英国生物银行,我们所有人 (AoU) 和Mass General Brigham Biobank (MGBB).
- 分析包括PRS-PAD,以前发表的PADPRS和临床风险因素.
- 主要结局是PAD和主要不良肢体事件 (截肢和急性肢体缺血的替代物).
主要成果:
- 在英国生物库中,PRS-PAD与PAD风险有显著的关联 (OR每次SD增加1.63).
- 在对临床因素进行调整后,PRS-PAD前20%的个体发现风险增加1.68倍.
- PRS-PAD改善了PAD事件的歧视 (C统计值0.761),与糖尿病和吸烟相比.
- 在所有三个队列中,高的PRS-PAD与主要不良肢体事件的风险增加有关.
结论:
- 一种新型的PRS (PRS-PAD) 已经开发出来,可以有效地分层PAD风险和相关的不良肢体结果.
- 将PRS-PAD纳入临床实践需要进一步的研究,以指导PAD查和个性化管理.
- 这种遗传工具有可能改善患有PAD的个体主要不良肢体事件的预防.
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