KU Leuven, Forensic Biomedical Sciences, Department of Imaging & Pathology, Leuven, Belgium.
KU Leuven, Forensic Biomedical Sciences, Department of Imaging & Pathology, Leuven, Belgium; UZ Leuven, Laboratory of Forensic Genetics, Leuven, Belgium.
Forensic Sci Int Genet. 2023 May;64:102846. doi: 10.1016/j.fsigen.2023.102846. Epub 2023 Feb 16.
Over the past decade, age prediction based on DNA methylation has become a vastly investigated topic; many age prediction models have been developed based on different DNAm markers and using various tissues. However, the potential of using nails to this end has not yet been explored. Their inherent resistance to decay and ease of sampling would offer an advantage in cases where post-mortem degradation poses challenges concerning sample collection and DNA-extraction. In the current study, clippings from both fingernails and toenails were collected from 108 living test subjects (age range: 0-96 years). The methylation status of 15 CpGs located in 4 previously established age-related markers (ASPA, EDARADD, PDE4C, ELOVL2) was investigated through pyrosequencing of bisulphite converted DNA. Significant dissimilarities in methylation levels were observed between all four limbs, hence both limb-specific age prediction models and prediction models combining multiple sampling locations were developed. When applied to their respective test sets, these models yielded a mean absolute deviation between predicted and chronological age ranging from 5.48 to 9.36 years when using ordinary least squares regression. In addition, the assay was tested on methylation data derived from 5 nail samples collected from deceased individuals, demonstrating its feasibility for application in post-mortem cases. In conclusion, this study provides the first proof that chronological age can be assessed through DNA methylation patterns in nails.
在过去的十年中,基于 DNA 甲基化的年龄预测已成为一个广泛研究的课题;许多基于不同的 DNAm 标志物和使用不同组织的年龄预测模型已经被开发出来。然而,利用指甲来实现这一目标的潜力尚未被探索。指甲具有内在的抗降解能力,且采样方便,这在样本采集和 DNA 提取因死后降解而面临挑战的情况下具有优势。在本研究中,从 108 名活体测试对象(年龄范围:0-96 岁)的手指甲和脚趾甲上采集了剪片。通过对亚硫酸氢盐转化的 DNA 进行焦磷酸测序,研究了位于 4 个先前建立的与年龄相关的标志物(ASPA、EDARADD、PDE4C、ELOVL2)中的 15 个 CpG 的甲基化状态。所有四个肢体之间的甲基化水平存在显著差异,因此开发了肢体特异性年龄预测模型和结合多个采样位置的预测模型。当将这些模型应用于各自的测试集时,当使用普通最小二乘回归时,这些模型产生的预测年龄与实际年龄之间的平均绝对偏差范围从 5.48 年到 9.36 年。此外,该检测方法还在从 5 个死后个体收集的指甲样本中得到的甲基化数据上进行了测试,证明了其在死后情况下应用的可行性。总之,本研究首次证明了通过指甲中的 DNA 甲基化模式可以评估实际年龄。