多基因风险得分作为终身风险标志物,并在未指定的发作事件后
Henrike O Heyne1,2,3,4, Fanny-Dhelia Pajuste5,6, Julian Wanner1,3
1Hasso Plattner Institute for Digital Engineering, University of Potsdam, Germany.
medRxiv : the preprint server for health sciences
|December 11, 2023
概括
通过多原风险评分 (PRSs) 测量的遗传因素显著增加了的风险. 基因通用 (GGE) 的高PRS预测了更高的GGE发病率,特别是在发作后,突出了PRS作为潜在的生物标志物.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 神经学 神经学
- 生物标志物发现发现
背景情况:
- 的诊断是具有挑战性的,需要新的生物标志物.
- 多基因风险评分 (PRSs) 提供了一种方法来量化对等复杂疾病的遗传倾向.
研究的目的:
- 通过使用纵向电子健康记录 (EHR) 调查常见遗传因素,特别是PRS对风险的影响.
- 评估PRS作为诊断生物标志物的潜力,特别是在第一次发作后.
主要方法:
- 利用了来自芬兰超过36万个人的详细纵向EHR数据.
- 计算和分析了与诊断有关的遗传泛性PRS (PRSGGE) 和焦点PRS (PRSNAFE).
- 在不同亚型,人口统计和其他疾病中比较PRS效应.
主要成果:
- 高PRSGGE与遗传通用 (GGE) 的风险增加有关 (HR 1.55每SD).
- 在发作后的10年内,高PRSGGE (>2SD) 的GGE发生率为37%,低PRSGGE (<-2SD) 的GGE发生率为5.6%.
- PRSGGE对GGE亚型 (HR 2.1 per SD) 和女性和年轻人表现出更强烈的影响;PRSNAFE与非获得的焦点 (NAFE) 和背部疼痛等其他疾病相关.
结论:
- 的特异性PRS表现出良好的辨别能力,特别是在第一次发作后.
- PRS可以作为有价值的生物标志物,帮助诊断.
- PRSGGE与GGE特别相关,而PRSNAFE显示了更广泛的关联.
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