Published in: Journal of Forensic Sciences, 26 May 2020

Authors

Vincenzo Lagani

Alberto Montesanto, Patrizia D’Aquila, Ersilia Paparazzo, Silvana Geracitano, Laura Formentini, Robertina Giacconi

Maurizio Cardelli, Mauro Provinciali, Dina Bellizzi, Giuseppe Passarino

Abstract

Forensic DNA phenotyping refers to an emerging field of forensic sciences aimed at the prediction of externally visible characteristics of unknown sample donors directly from biological materials. The aging process significantly affects most of the above characteristics making the development of a reliable method of age prediction very important. Today, the so‐called “epigenetic clocks” represent the most accurate models for age prediction. Since they are technically not achievable in a typical forensic laboratory, forensic DNA technology has triggered efforts toward the simplification of these models. The present study aimed to build an epigenetic clock using a set of methylation markers of five different genes in a sample of the Italian population of different ages covering the whole span of adult life. In a sample of 330 subjects, 42 selected markers were analyzed with a machine learning approach for building a prediction model for age prediction. A ridge linear regression model including eight of the proposed markers was identified as the best performing model across a plethora of candidates. This model was tested on an independent sample of 83 subjects providing a median error of 4.5 years. In the present study, an epigenetic model for age prediction was validated in a sample of the Italian population. However, its applicability to advanced ages still represents the main limitation in forensic caseworks.

Keywords

Methylation, Elovl2, Age Prediction, Epigenetic Clock, FDP, Automated Machine Learning, Externally visible characteristics