大动脉基因:多基因预测改善了胸前大动脉动脉瘤的检测
James P Pirruccello1,2,3, Shaan Khurshid4,5,6,7, Honghuang Lin8,9
1Division of Cardiology, University of California San Francisco, San Francisco, California, USA.
medRxiv : the preprint server for health sciences
|September 4, 2023
概括
一个新的多基因分数,AORTA Gene,通过结合遗传数据来改善胸前大动脉直径的预测. 这种遗传信息可以超越传统的临床因素,提高对大动脉动脉瘤的风险检测.
科学领域:
- 心血管遗传学 心血管遗传学
- 医疗成像医学成像
- 生物信息学是一种生物信息学.
背景情况:
- 胸前大动脉疾病带来了显著的发病率和死亡率风险.
- 大动脉直径是一个遗传性特征,有助于这种风险.
- 改善对大动脉直径的预测可以帮助早期检测大动脉动脉瘤.
研究的目的:
- 调查多基因预测得分是否可以提高对大动脉动脉瘤的检测.
- 评估一种新型多基因评分的有效性,即AORTA基因,用于预测上升的胸前大动脉直径.
主要方法:
- 深度学习被用来测量英国生物银行参与者的上升胸前大动脉直径.
- 一项全基因组关联研究 (GWAS) 用于构建一个110万个变异的多基因分数 (AORTA基因).
- 具有和没有多基因评分的预测模型在多个生物库中进行了评估和外部验证.
主要成果:
- 在所有测试组中,AORTA基因模型显著解释了胸前大动脉直径的变异性比单独临床因素更多.
- 在所有验证队列中,AORTA基因在识别大动脉直径≥4cm时显示了接受器操作特征曲线 (AUROC) 下的区域较高.
- 该模型在英国生物库,大众大学布里格姆生物库,弗雷明汉心脏研究和我们所有人中显示出更好的预测性能.
结论:
- 当遗传信息与临床风险因素相结合时,可大大改善胸前动脉直径的估计.
- 动脉动脉基因多基因评分显示,它有助于提升胸前动脉疾病的早期检测.
- 未来的研究应该集中在更大,更多样化的队列上,以开发更强大,更公平的预测得分.
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