多基因风险分数与中风风险及其子类型的关联在中文中
Songchun Yang1,2, Zhijia Sun1, Dong Sun1
1Department of Epidemiology & Biostatistics, School of Public Health, Peking University, Beijing, China.
Stroke and vascular neurology
|August 28, 2023
概括
多基因风险评分 (PRSs) 在中国人口中显示中风风险与中风风险的中等关联. 目前的PRS提供了超越传统因素的中风风险预测的有限改进.
科学领域:
- 遗传学 是一个遗传学.
- 流行病学 流行病学
- 心血管疾病 心血管疾病
背景情况:
- 关于中风风险分层的多基因风险评分 (PRS) 的以前的研究主要集中在欧洲人群中.
- 在不同族群中,特别是东亚人群中,PRS的预测能力仍然未被充分探索.
研究的目的:
- 评估现有和新开发的PRS与中风风险及其亚型在中国队列中的关联优势.
- 确定PRS在中国人口中改善中风风险预测的潜力.
主要方法:
- 利用来自中国Kadoorie生物库的全基因组基因型数据,将其分为训练和测试集.
- 开发和评估了四个先前建立的PRS和新的PRS用于中风及其亚型 (缺血性中风,脑内出血,脑下出血).
- 采用Cox比例危险回归模型来评估PRS与中风风险之间的关联.
主要成果:
- 在测试组 (n=72,150),任何中风 (AS) 和缺血性中风 (IS) 的PRS与AS,IS和脑内出血 (ICH) 的风险增加有关.
- 对ICH的PRS与ICH风险有积极的关联;然而,对于下关节出血 (SAH) 的PRS没有显著的关联.
- 包括目前的PRS在内,在中风风险预测或分层方面提供了很少或没有增强.
结论:
- 目前的PRS在中国人群中表现出中风及其亚型的中等关联强度.
- 有限的预测价值表明,PRS可能不会显著改善该人口中的风险预测,而不是传统因素.
- 东亚人口在全基因组关联研究中的代表性不足可能会影响当前PRS的有效性.
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