National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan.
National Research Institute of Police Science, 6-3-1 Kashiwanoha, Kashiwa, Chiba 277-0882, Japan.
Forensic Sci Int Genet. 2024 Mar;69:103004. doi: 10.1016/j.fsigen.2023.103004. Epub 2023 Dec 25.
Age estimation can be useful information for narrowing down candidates of unidentified donors in criminal investigations. Various age estimation models based on DNA methylation biomarkers have been developed for forensic usage in the past decade. However, many of these models using ordinary least squares regression cannot generate an appropriate estimation due to the deterioration in prediction accuracy caused by an increased prediction error in older age groups. In the present study, to address this problem, we developed age estimation models that set an appropriate prediction interval for all age groups by two approaches: a statistical method using quantile regression (QR) and a machine learning method using an artificial neural network (ANN). Methylation datasets (n = 1280, age 0-91 years) of the promoter for the gene encoding ELOVL fatty acid elongase 2 were used to develop the QR and ANN models. By validation using several test datasets, both models were shown to enlarge prediction intervals in accordance with aging and have a high level of correct prediction (>90 %) for older age groups. The QR and ANN models also generated a point age prediction with high accuracy. The ANN model enabled a prediction with a mean absolute error (MAE) of 5.3 years and root mean square error (RMSE) of 7.3 years for the test dataset (n = 549), which were comparable to those of the QR model (MAE = 5.6 years, RMSE = 7.8 years). Their applicability to casework was also confirmed using bloodstain samples stored for various periods of time (1-14 years), indicating the stability of the models for aged bloodstain samples. From these results, it was considered that the proposed models can provide more useful and effective age estimation in forensic settings.
年龄估计对于缩小犯罪调查中未识别供体的候选范围可能是有用的信息。在过去十年中,已经开发出了基于 DNA 甲基化生物标志物的各种年龄估计模型,用于法医用途。然而,由于预测误差增加导致预测精度恶化,许多使用普通最小二乘法回归的模型无法生成适当的估计。在本研究中,为了解决这个问题,我们开发了两种方法的年龄估计模型:使用分位数回归(QR)的统计方法和使用人工神经网络(ANN)的机器学习方法。使用编码 ELOVL 脂肪酸延长酶 2 的基因启动子的甲基化数据集(n=1280,年龄 0-91 岁)来开发 QR 和 ANN 模型。通过使用几个测试数据集进行验证,两种模型都显示出与老化相一致的扩大预测间隔,并对年龄较大的年龄组具有较高的正确预测率(>90%)。QR 和 ANN 模型还生成了高精度的点年龄预测。ANN 模型能够对测试数据集(n=549)进行预测,平均绝对误差(MAE)为 5.3 年,均方根误差(RMSE)为 7.3 年,与 QR 模型相当(MAE=5.6 年,RMSE=7.8 年)。通过使用储存了不同时间(1-14 年)的血斑样本也证实了它们在实际案例中的适用性,表明模型对老化血斑样本具有稳定性。从这些结果可以认为,所提出的模型可以在法医环境中提供更有用和有效的年龄估计。