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早期发病的特定多基因风险评分优化基于年龄的风险估计和前列腺癌分层:基于人口的队列研究

Yifei Cheng^1,2, Lang Wu³, Junyi Xin⁴

¹Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Department of Environmental Genomics, School of Public Health, Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, China.

Journal of translational medicine

|April 17, 2024

概括

早期前列腺癌 (EOPC) 具有明显的遗传风险. 特定于EOPC的多基因风险评分 (PRS) 提高了年轻男性的风险预测,特别是那些没有家族病史的男性.

科学领域:

遗传学遗传学是一个
在瘤学瘤学.
流行病学流行病学

背景情况:

早期发生的前列腺癌 (EOPC) 具有独特的临床挑战,具有很高的遗传倾向.
尽管存在遗传风险,但许多EOPC病例的发现迟到了,导致预后不佳.
了解基于年龄的多基因风险得分 (PRS) 对个性化前列腺癌 (PCa) 风险分层至关重要.

研究的目的:

开发和验证前列腺癌 (PCa) 特定年龄的多基因风险评分 (PRS).
区分早期发病的前列腺癌 (EOPC) 和晚期发病的前列腺癌 (LOPC) 的遗传和表型特征.
评估EOPC-PRS对改善年轻男性风险预测的有用性.

主要方法:

利用英国生物库数据 (167517名男性),包括EOPC和LOPC病例.
从特定年龄的全基因组关联研究中衍生出通用,EOPC和LOPC特定的PRS.
在独立队列 (PLCO,TCGA) 中使用Cox比例危险模型和时间依赖的ROC曲线进行风险估计和验证.
进行了全现象关联研究 (PheWAS),以确定与EOPC相关的表型.

主要成果:

一个269-PRS与EOPC风险 (HR=2.35) 的相关性比LOPC风险 (HR=1.95) 更强.
EOPC-PRS显示了与EOPC风险 (HR=4.70) 的强烈关联,但没有LOPC风险 (HR=0.98).
EOPC-PRS实现了对EOPC的最佳歧视 (AUC=0.613).
EOPC主要与家族病史有关,而LOPC与环境和生活方式因素有关.

结论:

这项研究阐明了EOPC的独特遗传和表型特征.
开发的EOPC-PRS可以提高PCa对年轻男性的风险评估,特别是那些没有家族病史的人.
这些发现支持精确的人口分层,用于前列腺癌查和管理.

关键词:

年龄特定的全基因组关联研究.早期发生的前列腺癌.整个现象的关联研究研究.多基因风险评分多基因风险评分.英国生物银行.

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