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在东亚从未吸烟者中,分层化肺腺癌风险与多祖先多基因风险评分

Batel Blechter¹, Xiaoyu Wang¹, Juncheng Dai^2,3

¹Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.

Journal of the National Cancer Institute

|October 1, 2025

概括

开发多祖先多基因风险评分 (PRS) 显著改善了东亚从未吸烟者的肺腺癌 (LUAD) 风险预测. 这些PRS为早期检测和临床实用性提供了增强的分层.

科学领域:

遗传学是一个遗传学.
在瘤学瘤学.
公共卫生公共卫生

背景情况:

肺腺癌 (LUAD) 对健康造成重大负担,特别是在不吸烟的东亚女性中.
现有的LUAD多基因风险评分 (PRS) 主要是在欧洲人群中开发的,这限制了它们的适用性.
对于祖先特异性和多祖先的PRS来准确预测不同人群中的LUAD风险是非常需要的.

研究的目的:

开发和验证为东亚从不吸烟者量身定制的单祖先和多祖先PRS.
为了提高LUAD风险分层的预测准确度.
评估这些PRS对于早期检测的临床实用性.

主要方法:

来自东亚和欧洲人口的全基因组关联研究总结统计数据被用来开发PRS.
评估了单个祖先 (PRS-25,PRS-CT,LDpred2) 和多个祖先 (LDpred2+PRS-EUR128,PRS-CSx,CT-SLEB) 的模型.
在独立的东亚队列 (FLCCA,NJLCC) 中,使用曲线下面面积 (AUC) 评估绩效.

主要成果:

最好的多祖先PRS (CT-SLEB) 与最好的仅东亚PRS (LDpred2;AUC=0.629) 相比,获得了更高的AUC (0.640).
在NJLCC队列的外部验证证实了强大的性能 (AUC=0.649).
在前20%的PRS组中,个体的LUAD风险高出3.92倍,前5%的人达到6.69%的终身风险,并在9年之前达到平均10年风险.

结论:

多祖先PRS方法在东亚从不吸烟者的LUAD风险分层方面表现优异.
开发的PRS显示一致的外部验证,表明临床应用的强大潜力.
这些发现支持未来将多祖先PRS纳入临床实践,以改善LUAD风险评估.

关键词:

东亚人从来不是吸烟者全基因组关联研究研究.终身绝对风险终身绝对风险肺部腺癌瘤是肺部腺癌.多基因风险得分的多基因风险得分.

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