在多民族人群中超越金标准临床模型预测妊娠前的多基因风险评分
Maddalena Ardissino1,2,3,4, Kypros Nicolaides4,5, Frances Conti-Ramsden4
1Medical Research Council, Laboratory of Medical Sciences Imperial College London UK.
Journal of the American Heart Association
|December 11, 2025
概括
多基因风险评分 (PRS) 在预测欧洲血统女性的孕前方面提供了适度的改善. 由于在遗传学研究中代表性不足,它们的实用性在非洲祖先的女性中是有限的,这凸显了公平发展的需要.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 孕产妇和胎儿医学 孕产妇和胎儿医学
- 生殖健康 生殖健康
背景情况:
- 孕前症对母亲和胎儿的健康构成重大风险.
- 早期识别高风险怀孕对于实施预防措施至关重要.
- 孕前多基因风险评分 (PRS) 的预测价值需要进一步调查,特别是在不同的祖先之间.
研究的目的:
- 评估在第一季度预测模型中预孕前和缩血压PRS的附加预测价值.
- 将PRS的性能与已建立的临床和高级预测模型进行比较.
- 评估不同祖先群体的PRS表现.
主要方法:
- 分析了两个潜在的怀孕队列 (胎儿医学基金会和怀孕结果预测研究).
- 风险模型包括临床因素,PRS和先进的第一季度标记 (平均动脉压,PAPP-A,子宫动脉脉动指数).
- 使用接收器操作特征曲线 (AUC) 下的面积来测量差异性性能,并根据祖先进行评估.
主要成果:
- 孕前 PRS与孕前有独立的关联,对临床模型的预测有轻微的改善 (AUC 0.746与0.750).
- 当PRS被添加到高级模型中时,没有观察到显著的改善 (AUC0.817与0.818).
- 系统性血压PRS在欧洲血统的妇女中改善了预测,但在非洲血统的妇女中没有.
结论:
- 孕前和静脉压的PRS提供了欧洲血统女性临床因素之外的有限的额外预测价值.
- 在全基因组关联研究中的代表性不足限制了当前PRS在非洲祖先种群中的实用性.
- 改进的PRS模型和更大的队列可能会在未来提高孕产妇健康的公平风险分层.
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