Paediatric DNA methylation profile scores: a systematic review and open-source atlas
Year: 2026
Type: review
Study design: Systematic Review
Abstract: Methylation profile scores (MPSs) have emerged as a useful tool to index exposures, biological states, or disease-related patterns, by aggregating information across many DNA methylation (DNAm) sites into a single score per individual. Although most MPSs to date have been trained and validated in adults, their use in early life (<18 years) is rapidly gaining momentum, as more cohorts profile DNAm during development, offering a window on exposures and vulnerability before disease onset. Here we systematically review early-life MPS studies (n = 119), covering 828 MPSs that span a wide range of exposures and traits. Overall, studies show substantial heterogeneity in design and reporting. Also, studies frequently apply MPSs trained in data from mismatched age groups, tissues, array or platforms, and ancestries, which may influence MPS performance. To address these limitations, we introduce DEMETRA (indepthlab-demetra.share.connect.posit.cloud), a searchable atlas of early-life MPSs to help users identify and select scores best suited to their study.
Source: EBioMedicine
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $5,780
Funders: Cancer Research UK, National Institute for Health and Care Research, Department of Health and Social Care, European Commission, HORIZON EUROPE Framework Programme, Medical Research Council, National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology
Awards: Running in the FAMILY - Understanding and predicting the intergenerational transmission of mental illness, G2606538822, An Integrated Life-Course Approach for Person-Centred Solutions and Care for Ageing with Multi-morbidity in the European Regions - STAGE; Stay Healthy Through Ageing, Understanding how endocrine disruptors and chemical mixtures of concern target the immune system to trigger or perpetuate disease, Understanding, predicting, and treating depression in pregnancy to improve mothers and offspring mental health outcomes, G5508677496, G8074060860
OpenAlex ID: W7162096483