Becker J, Bühren V, Schmelzer L, Reckert A, Eickhoff S B, Ritz S, Naue J
Institute of Legal Medicine, University Hospital Duesseldorf, 40225, Duesseldorf, Germany.
Institute of Forensic Medicine, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79104, Freiburg, Germany.
Int J Legal Med. 2025 Jan;139(1):157-174. doi: 10.1007/s00414-024-03314-z. Epub 2024 Sep 11.
The prediction of the chronological age of a deceased individual at time of death can provide important information in case of unidentified bodies. The methodological possibilities in these cases depend on the availability of tissues, whereby bones are preserved for a long time due to their mineralization under normal environmental conditions. Age-dependent changes in DNA methylation (DNAm) as well as the accumulation of pentosidine (Pen) and D-aspartic acid (D-Asp) could be useful molecular markers for age prediction. A combination of such molecular clocks into one age prediction model seems favorable to minimize inter- and intra-individual variation. We therefore developed (I) age prediction models based on the three molecular clocks, (II) examined the improvement of age prediction by combination, and (III) investigated if samples with signs of decomposition can also be examined using these three molecular clocks. Skull bone from deceased individuals was collected to obtain a training dataset (n = 86), and two independent test sets (without signs of decomposition: n = 44, with signs of decomposition: n = 48). DNAm of 6 CpG sites in ELOVL2, KLF14, PDE4C, RPA2, TRIM59 and ZYG11A was analyzed using massive parallel sequencing (MPS). The D-Asp and Pen contents were analyzed by high performance liquid chromatography (HPLC). Age prediction models based on ridge regression were developed resulting in mean absolute errors (MAEs)/root mean square errors (RMSE) of 5.5years /6.6 years (DNAm), 7.7 years /9.3 years (Pen) and 11.7 years /14.6 years (D-Asp) in the test set. Unsurprisingly, a general lower accuracy for the DNAm, D-Asp, and Pen models was observed in samples from decomposed bodies (MAE: 7.4-11.8 years, RMSE: 10.4-15.4 years). This reduced accuracy could be caused by multiple factors with different impact on each molecular clock. To acknowledge general changes due to decomposition, a pilot model for a possible age prediction based on the decomposed samples as training set improved the accuracy evaluated by leave-one-out-cross validation (MAE: 6.6-12 years, RMSE: 8.1-15.9 years). The combination of all three molecular age clocks did reveal comparable MAE and RMSE results to the pure analysis of the DNA methylation for the test set without signs of decomposition. However, an improvement by the combination of all three clocks was possible for the decomposed samples, reducing especially the deviation in case of outliers in samples with very high decomposition and low DNA content. The results demonstrate the general potential in a combined analysis of different molecular clocks in specific cases.
对于身份不明的尸体,预测死者死亡时的实际年龄可提供重要信息。这些情况下的方法可能性取决于组织的可用性,在正常环境条件下,由于骨骼的矿化作用,其保存时间较长。DNA甲基化(DNAm)的年龄依赖性变化以及戊糖苷(Pen)和D-天冬氨酸(D-Asp)的积累可能是用于年龄预测的有用分子标记。将这些分子时钟组合到一个年龄预测模型中似乎有利于最小化个体间和个体内的差异。因此,我们开发了(I)基于这三个分子时钟的年龄预测模型,(II)研究了通过组合提高年龄预测的效果,以及(III)研究了有分解迹象的样本是否也可以使用这三个分子时钟进行检测。收集死者的颅骨以获得一个训练数据集(n = 86),以及两个独立的测试集(无分解迹象:n = 44,有分解迹象:n = 48)。使用大规模平行测序(MPS)分析ELOVL2、KLF14、PDE4C、RPA2、TRIM59和ZYG11A中6个CpG位点的DNAm。通过高效液相色谱(HPLC)分析D-Asp和Pen的含量。开发了基于岭回归的年龄预测模型,测试集中的平均绝对误差(MAE)/均方根误差(RMSE)分别为5.5年/6.6年(DNAm)、7.7年/9.3年(Pen)和11.7年/14.6年(D-Asp)。不出所料,在分解尸体的样本中观察到DNAm、D-Asp和Pen模型的总体准确性较低(MAE:7.4 - 11.8年,RMSE:10.4 - 15.4年)。这种准确性降低可能由多种因素导致,每种因素对每个分子时钟的影响不同。为了考虑由于分解引起的一般变化,一个基于分解样本作为训练集的可能年龄预测的试验模型提高了留一法交叉验证评估的准确性(MAE:6.6 - 12年,RMSE:8.1 - 15.9年)。对于无分解迹象的测试集,所有三个分子年龄时钟的组合确实显示出与DNA甲基化的纯分析相当的MAE和RMSE结果。然而,对于分解样本,所有三个时钟的组合有可能提高准确性,特别是减少了分解程度非常高且DNA含量低的样本中异常值情况下的偏差。结果证明了在特定情况下对不同分子时钟进行联合分析的总体潜力。