Research Paper Volume 13, Issue 5 pp 6459—6484
Development of the VISAGE enhanced tool and statistical models for epigenetic age estimation in blood, buccal cells and bones
- 1 Central Forensic Laboratory of the Police, Warsaw, Poland
- 2 Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck, Austria
- 3 Department of Forensic Medicine, Jagiellonian University Medical College, Krakow, Poland
- 4 Malopolska Centre of Biotechnology, Jagiellonian University, Krakow, Poland
- 5 Forensic Genetics Unit, Institute of Forensic Sciences, University of Santiago de Compostela, Santiago de Compostela, Spain
- 6 Department Medical Genetics, Warsaw Medical University, Warsaw, Poland
- 7 Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands
- 8 Forensic Science Program, The Pennsylvania State University, University Park, PA 16802, USA
Received: January 10, 2021 Accepted: February 16, 2021 Published: March 11, 2021https://doi.org/10.18632/aging.202783
How to Cite
Copyright: © 2021 Woźniak et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
DNA methylation is known as a biomarker for age with applications in forensics. Here we describe the VISAGE (VISible Attributes through GEnomics) Consortium’s enhanced tool for epigenetic age estimation in somatic tissues. The tool is based on eight DNA methylation markers (44 CpGs), bisulfite multiplex PCR followed by sequencing on the MiSeq FGx platform, and three statistical prediction models for blood, buccal cells and bones. The model for blood is based on six CpGs from ELOVL2, MIR29B2CHG, KLF14, FHL2, TRIM59 and PDE4C, and predicts age with a mean absolute error (MAE) of 3.2 years, while the model for buccal cells includes five CpGs from PDE4C, MIR29B2CHG, ELOVL2, KLF14 and EDARADD and predicts age with MAE of 3.7 years, and the model for bones has six CpGs from ELOVL2, KLF14, PDE4C and ASPA and predicts age with MAE of 3.4 years. The VISAGE enhanced tool for age estimation in somatic tissues enables reliable collection of DNA methylation data from small amounts of DNA using a sensitive multiplex MPS assay that provides accurate estimation of age in blood, buccal swabs, and bones using the statistical model tailored to each tissue.