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Epigenetic Age Estimation by Detecting DNA Methylation Status in Buccal Swabs
Zimeng Guan1, Jiaqi Wang2, Zidong Liu2
1Department of Biotechnology, Biomedical Sciences College, Shandong First Medical University & Shandong Academy of Medical Sciences, Jinan, P. R. China.
Electrophoresis
|October 15, 2024
Summary
DNA methylation analysis of buccal swabs accurately predicts age using pyrosequencing and random forest regression. This non-invasive method offers a reliable alternative for forensic and clinical applications.
Area of Science:
- Epigenetics
- Forensic Science
- Biomolecular analysis
Background:
- DNA methylation (DNAm) is a key epigenetic mechanism.
- DNAm levels at specific CpG sites are increasingly used for age estimation.
- Buccal swabs are an underutilized source for DNAm-based age prediction.
Purpose of the Study:
- To identify age-dependent methylation CpG sites in HOXC4, TRIM59, and ELOVL2 genes.
- To develop and validate an age prediction model using DNAm in buccal swabs from the Chinese Han population.
Main Methods:
- Analysis of 461 buccal swab samples (age range 0.4-80.8 years) using pyrosequencing.
- Development of a random forest regression model incorporating eight CpG sites across three genes.
- Training and validation of the age prediction model.
Main Results:
- A random forest regression model was developed, achieving a mean absolute error (MAE) of 2.119 years on the training set.
- The model demonstrated an MAE of 4.391 years on an independent validation set.
- Identified age-dependent methylation patterns in HOXC4, TRIM59, and ELOVL2.
Conclusions:
- Buccal swabs are a suitable and non-invasive source for DNAm-based age prediction.
- Pyrosequencing combined with random forest regression provides an effective approach for developing accurate age prediction models.
- This study contributes to the advancement of forensic and clinical age estimation techniques.

