开发一种最佳分层模型用于结直肠癌查和减少多中心基于人口的研究中的种族差异
Jianbo Tian1,2, Ming Zhang3,4, Fuwei Zhang3,4
1Department of Epidemiology and Biostatistics, School of Public Health, Department of Gastrointestinal Oncology, Zhongnan Hospital of Wuhan University, TaiKang Center for Life and Medical Sciences, Wuhan University, Wuhan, 430071, China. tianjb@whu.edu.cn.
Genome medicine
|June 13, 2024
概括
在东亚人中开发一种新的结直肠瘤风险预测模型,可以改善早期检测. 与生活方式因素相结合的PRS183模型增强了个性化查,减少了错过诊断.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 癌症流行病学 癌症流行病学
- 个性化医疗是个性化的医疗.
背景情况:
- 早期发现结直肠瘤对于通过及时干预来减少结直肠癌 (CRC) 负担至关重要.
- 在东亚 (EAS) 人口中缺乏针对个性化CRC早期查的有效风险预测模型.
- 这项研究旨在开发,验证和优化EAS群体中腺瘤-癌瘤序列的综合风险预测模型.
研究的目的:
- 开发和验证东亚人群中结直肠瘤的多基因风险评分 (PRS).
- 通过将PRS与生活方式因素相结合,优化全面的风险预测模型,以进行个性化CRC查.
- 评估模型在识别患有结直肠瘤发育各个阶段风险的个体方面的表现.
主要方法:
- 开发了三种跨祖先的PRS (PRS148,PRS183,PRSGenomewide) 针对结直肠瘤.
- 在独立的EAS (ZJCRC) 和欧洲 (PLCO) 数据集中验证了PRS性能,包括患有晚期瘤,腺瘤和对照患者.
- 将最佳的PRS (PRS183) 与生活方式因素结合起来,并在总共350,013名参与者的大型潜在队列 (PLCO,英国生物银行) 中进行了测试.
主要成果:
- 与欧洲人口相比,跨祖先的PRS在EAS人群中显示出更好的预测性能.
- 在EAS和EUR验证数据集中,PRS183显示出对结直肠瘤的最佳分辨能力.
- 综合PRS183和生活方式因素的综合模型改善了风险分层和准确性,显示了减少错过诊断和不必要查的潜力.
结论:
- 一个全面的风险分层模型为基于人群的CRC查试验中的个性化风险评估提供了有希望的进步,特别是对于EAS人群.
- 这种方法提高了PRS跨祖先的可转移性,有助于减少健康差异.
- 开发的模型促进了定制的CRC查策略,改善了结直肠瘤的早期检测和管理.
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