基于机器学习的痛风预测使用多基因风险得分和临床变量:一项韩国队列研究
Do-Hyeon Kwak1, Hyunjung Kim1, Hee-Won Park2,3
1Division of Biomedical Convergence, College of Biomedical Science, Institute of Bioscience and Biotechnology, Kangwon National University, Chuncheon, Republic of Korea.
Lifestyle genomics
|September 26, 2025
概括
多基因风险评分 (PRS) 与临床因素相结合,可以改善痛风预测,尽管传统的风险因素仍然至关重要. 机器学习模型在识别患有这种慢性代谢疾病风险较高的个体方面表现有前途.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 计算生物学是一种计算生物学.
- 流行病学 流行病学
背景情况:
- 痛风的患病率在全球范围内不断增加.
- 多基因风险评分 (PRS) 显示出预测痛风结果的潜力.
- 在疾病预测中PRS的临床实用性需要进一步研究.
研究的目的:
- 利用遗传和临床数据开发用于痛风预测的机器学习 (ML) 模型.
- 评估不同的ML算法在痛风预测中的性能.
- 评估PRS和传统风险因素对痛风预测的贡献.
主要方法:
- 利用了来自韩国基因组和流行病学研究的数据.
- 开发并比较了五种监督的ML模型:物流回归,随机森林 (RF),决策树,极端梯度增强和光梯度增强.
- 包括多基因风险评分 (PRS),尿酸,生活习惯和代谢综合征 (MetS) 概况作为预测因素.
主要成果:
- 整合PRS,年龄,性别,MetS和尿酸的RF模型实现了最高的预测性能 (AUC = 0.7204).
- 尿酸水平被确定为最重要的预测因素,其次是PRS和年龄.
- PRS显示对ML模型对痛风的预测能力产生了适度但积极的影响.
结论:
- 将遗传数据 (PRS) 与临床变量相结合,可以提高痛风预测的准确性.
- 传统的风险因素,特别是尿酸水平,对于痛风预测仍然非常重要.
- 需要进一步的研究来优化PRS在不同人群中的实用性,以便有效地治疗痛风.
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