多基因评分用于检测上升的胸前大动脉扩张
John DePaolo1, Gina Biagetti2, Renae Judy1
1Department of Surgery (J.D.P., R.J.).
Circulation. Genomic and precision medicine
|September 26, 2024
概括
将多基因分数 (PGS) 添加到临床风险算法中可以改善胸前大动脉直径的预测,但仅在欧洲人群中. 这种方法可能会加剧其他群体的健康差异.
科学领域:
- 心血管遗传学 心血管遗传学
- 医疗信息学 医疗信息学
- 人口健康 人口健康
背景情况:
- 上升胸前大动脉扩张是一种由各种风险因素影响的遗传性疾病.
- 多基因评分 (PGS) 是评估复杂疾病风险的新兴工具.
- 在改善不同人群中大动脉直径预测中的PGS的实用性仍然不清楚.
研究的目的:
- 评估将多基因分数 (PGS) 纳入现有临床预测模型中,以增加大动脉直径的有效性.
- 评估PGS是否可以在多样化的生物银行群体中提高风险预测.
- 将PGS增强模型的性能与已建立的AORTA评分进行比较.
主要方法:
- 利用了来自宾夕法尼亚医学生物库的6235名参与者的数据,包括心声回声,临床数据和全基因组基因型数据.
- 采用线性回归模型来整合来自英国生物银行全基因组关联研究的PGS权重.
- 使用单独的AORTA得分与AORTA得分结合英国生物银行衍生PGS的模型性能进行比较.
主要成果:
- AORTA评分解释了大动脉直径变异的30.6%;添加英国生物银行衍生的PGS将其提高到33.1%.
- 用PGS重新加权的AORTA得分达到34.9%的最高差异解释.
- 在欧洲血统的人群中,改善显著,但在非洲血统的人群中是微不足道的,对于预测胸前大动脉扩张病例的类似趋势.
结论:
- 将英国生物银行衍生的PGS与AORTA得分相结合,可显著改善欧洲血统个体的胸前大动脉直径预测.
- 在非洲血统的人群中,PGS的添加显示出极少的益处.
- 这些发现表明,目前的PGS可能会加剧现有的医疗保健差异,如果不仔细应用在不同的人口.
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