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在亚洲人口中开发和验证基于多基因的前列腺癌风险评分的全基因组协会研究

Jiun-Hung Geng^1,2,3,4,5, Chia-Cheng Yu^6,7,8, Chao-Yuan Huang⁹

¹Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.

The world journal of men's health

|August 4, 2025

概括

一个新的多基因风险评分 (PRS) 有效地预测台湾人口的前列腺癌 (PCa) 风险. 这种遗传易感性工具可以帮助早期检测和个性化治疗策略PCa.

科学领域:

遗传学遗传学是一个
在瘤学瘤学.
生物信息学是一种生物信息学.

背景情况:

前列腺癌 (PCa) 在全球范围内是一个重大的健康问题.
遗传因素在PCa的发展中起着至关重要的作用.
全基因组关联研究 (GWAS) 已经确定了许多与PCa风险相关的单核酸多态 (SNP).

研究的目的:

开发和验证多基因风险评分 (PRS) 以估计对前列腺癌 (PCa) 的遗传易感性.
评估PRS在台湾人口中的预测性能.

主要方法:

来自台湾生物库 (TWB) 的1,015名PCa患者和1,015名年龄匹配对照组被用于PRS发展.
组建了一个独立的验证队列,以确认PRS的性能.
进行了基因型和归算,分析了大约69万个SNP和1500万个归算的SNP.
PRSice2被用于PRS构建,模型性能使用接收机操作特征 (ROC) 分析和交叉验证 (CV) 来评估.

主要成果:

使用24个显著SNP构建了一个PRS,包括KCNH7,HLA-DQA1和PRNCR1附近的SNP.
该PRS表现出强大的预测能力,实现曲线下的面积 (AUC) 为0.824 (p=1.23×10−50).
与最低百分位相比,PRS百分位最高的人患PCa的风险增加了34倍 (OR=34.37).
在验证队列中,PRS模型表现稳定,平均准确度为0.75 (3倍CV) 和0.76 (10倍CV),AUC为0.757.

结论:

开发的PRS是台湾人口中PCa风险的强有力的预测指标.
这种PRS可能会增强PCa的风险分层.
这些发现可能会指导开发针对前列腺癌的个性化干预措施.

关键词:

遗传风险评分是基因风险评分.全基因组关联研究研究.多态性,单个核酸.前列腺新生体前列腺瘤.

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