ArticleCurrent neuropharmacology2023
Epigenetics of Autism Spectrum Disorders: A Multi-level Analysis Combining Epi-signature, Age Acceleration, Epigenetic Drift and Rare Epivariations Using Public Datasets.
Article in Current neuropharmacology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- System-Specific Epigenetic Aging Signatures in Autistic Adults.bioRxiv : the preprint server for biology · 2026Article
- Autism spectrum disorder across the lifespan: Dynamic symptom trajectories and multidimensional support framework.Molecular psychiatry · 2026Review
- Epimutations in migraine and in medication overuse headache: a longitudinal study after acute medication withdrawal.The journal of headache and pain · 2026Article
- Association between epigenetic age acceleration and psychiatric disorders: a bidirectional Mendelian randomization study.European archives of psychiatry and clinical neuroscience · 2026Article
- Epigenetic Signatures in an Italian Cohort of Parkinson's Disease Patients from Sicily.Brain sciences · 2025Article
- Analysis Methods for Diagnosing Rare Neurodevelopmental Diseases with Episignatures: A Systematic Review of the Literature.Biomedicines · 2025Review
- Extracellular vesicle profiling reveals novel autism signatures in patient-derived forebrain organoids.Translational psychiatry · 2025Article
- Expanding Upon Genomics in Rare Diseases: Epigenomic Insights.International journal of molecular sciences · 2024Review
- Article
- Exploring epigenetic drift and rare epivariations in amyotrophic lateral sclerosis by epigenome-wide association study.Frontiers in aging neuroscience · 2023Article
- Exploring the complexities of epigenetics in multiple sclerosis: A study involving meta-analysis of DNA methylation profiles, epigenetic drift, and rare epivariations.Multiple sclerosis journal - experimental, translational and clinicalArticle
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEpigenetics of Autism Spectrum Disorders (ASD) is still an understudied field. The majority of the studies on the topic used an approach based on mere classification of cases and controls.
objectiveThe present study aimed at providing a multi-level approach in which different types of epigenetic analysis (epigenetic drift, age acceleration) are combined.
methodsWe used publicly available datasets from blood (n = 3) and brain tissues (n = 3), separately. Firstly, we evaluated for each dataset and meta-analyzed the differential methylation profile between cases and controls. Secondly, we analyzed age acceleration, epigenetic drift and rare epigenetic variations.
resultsWe observed a significant epi-signature of ASD in blood but not in brain specimens. We did not observe significant age acceleration in ASD, while epigenetic drift was significantly higher compared to controls. We reported the presence of significant rare epigenetic variations in 41 genes, 35 of which were never associated with ASD. Almost all genes were involved in pathways linked to ASD etiopathogenesis (i.e., neuronal development, mitochondrial metabolism, lipid biosynthesis and antigen presentation).
conclusionOur data support the hypothesis of the use of blood epi-signature as a potential tool for diagnosis and prognosis of ASD. The presence of an enhanced epigenetic drift, especially in brain, which is linked to cellular replication, may suggest that alteration in epigenetics may occur at a very early developmental stage (i.e., fetal) when neuronal replication is still high.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.