韩国人的年龄预测和平台过渡分析的VISAGE增强工具的独立验证
Moon Hyun So1, Soo-Bin Yang1, Ji Eun Lee1
1Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, South Korea.
Forensic science international. Genetics
|August 26, 2025
概括
韩国人开发了DNA甲基化年龄预测模型,在血液和口腔细胞中实现了高精度. 这些模型考虑了特定群体的差异和可靠的法医应用的跨平台变化.
科学领域:
- 法医遗传学
- 表观遗传学
- 生物标志物的发现
背景情况:
- 基于DNA甲基化的年龄预测对于法医调查至关重要.
- 之前的欧洲模型 (VISAGE联盟) 使用大规模并行测序 (MPS) 显示出高精度.
- 人口特有的差异和平台的变化需要局部化的模型开发.
研究的目的:
- 为韩国人口复制和调整欧洲年龄预测模型.
- 为韩国血液和口腔细胞开发和验证新的DNA甲基化年龄预测模型.
- 评估和解决跨平台差异 (MPS与SBE) 以获得更广泛的适用性.
主要方法:
- 基于VISAGE MPS分析的韩国DNA样本的复制 (300个血液,150个口腔).
- 使用多重线性回归在CpG站点开发新的年龄预测模型.
- 通过甲基化水平校准和MPS和SBE方法之间的比较分析创建平台独立的模型.
主要成果:
- 新开发的韩国血液年龄模型实现了3. 4年的平均绝对误差 (MAE),与VISAGE模型 (3. 2年) 相比.
- 与VISAGE模型 (3.7年) 相比,韩国口腔细胞模型显示了更高的MAE (4.3年).
- 独立于平台的血液模型获得了高准确性 (MAE为3. 6年),而口腔模型显示了较低的准确性和持续的跨平台变化.
- 使用各种回归方法的优化韩国模型实现了低于3.4年的MAE (血液) 和4.2年的MAE (口腔).
结论:
- 开发了针对韩国人口的可靠基因甲基化年龄预测模型.
- 突出了在法医年龄估计中考虑人口特异性表观遗传变异和技术因素 (例如测序平台) 的重要性.
- 证明了创建独立于平台的模型的可行性,尽管对于某些样本类型 (如口腔细胞) 仍然存在挑战.
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