ArticleTranslational psychiatry2016
Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders.
Article in Translational psychiatry, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
26 citing papers in PubMed, 61 citations in OpenAlex.
- Elemental and Isotopic Profiles in Blood and Urine of Jordanian Children with Autism Spectrum Disorder: a Preliminary Comparative Study with Neurotypical Children.Biological trace element research · 2026Article
- Genome-Wide DNA Methylation Profiling of Peripheral Blood Mononuclear Cells Reveals Epigenetic Signatures in Autism Spectrum Disorder.International journal of molecular sciences · 2026Article
- Article
- Combined multi-omics and brain pathology reveal novel biomarkers for alzheimer's disease.Scientific reports · 2025Article
- Investigating the impact of severe maternal SARS-CoV-2 infection on infant DNA methylation and neurodevelopment.Molecular psychiatry · 2025Article
- Assessment of Essential and Toxic Element Levels in the Toenails of Children with Autism Spectrum Disorder.Biological trace element research · 2025Article
- A methylome-wide association study of major depression with out-of-sample case-control classification and trans-ancestry comparison.Nature. Mental health · 2025Article
- Association of Relative Telomere Length and LINE-1 Methylation with Autism but not with Severity.Journal of autism and developmental disorders · 2024Article
- Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package.Epigenetics · 2023Article
- Hair Trace Elements and Mineral Content in Moroccan Children with Autism Spectrum Disorder: a Case-Control Study.Biological trace element research · 2023Article
- Identification and validation of cuproptosis related genes and signature markers in bronchopulmonary dysplasia disease using bioinformatics analysis and machine learning.BMC medical informatics and decision making · 2023Article
- Epigenetics of Autism Spectrum Disorders: A Multi-level Analysis Combining Epi-signature, Age Acceleration, Epigenetic Drift and Rare Epivariations Using Public Datasets.Current neuropharmacology · 2023Article
- De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability.Human genomics · 2022Article
- The DNA Methylation in Neurological Diseases.Cells · 2022Review
- Rare variants and the oligogenic architecture of autism.Trends in genetics : TIG · 2022Review
- Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult.Brain pathology (Zurich, Switzerland) · 2022Article
- Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.NPJ genomic medicine · 2022Article
- Evolution of Reproductive Life History in Mammals and the Associated Change of Functional Constraints.Genes · 2021Article
- Expression Analysis of Ermin and Listerin E3 Ubiquitin Protein Ligase 1 Genes in Autistic Patients.Frontiers in molecular neuroscience · 2021Article
- Environmental influence on neurodevelopmental disorders: Potential association of heavy metal exposure and autism.Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autism spectrum disorders (ASD) are highly heritable and genetically complex conditions. Although highly penetrant mutations in multiple genes have been identified, they account for the etiology of <1/3 of cases. There is also strong evidence for environmental contribution to ASD, which can be mediated by still poorly explored epigenetic modifications. We searched for methylation changes on blood DNA of 53 male ASD patients and 757 healthy controls using a methylomic array (450K Illumina), correlated the variants with transcriptional alterations in blood RNAseq data, and performed a case-control association study of the relevant findings in a larger cohort (394 cases and 500 controls). We found 700 differentially methylated CpGs, most of them hypomethylated in the ASD group (83.9%), with cis-acting expression changes at 7.6% of locations. Relevant findings included: (1) hypomethylation caused by rare genetic variants (meSNVs) at six loci (ERMN, USP24, METTL21C, PDE10A, STX16 and DBT) significantly associated with ASD (q-value <0.05); and (2) clustered epimutations associated to transcriptional changes in single-ASD patients (n=4). All meSNVs and clustered epimutations were inherited from unaffected parents. Resequencing of the top candidate genes also revealed a significant load of deleterious mutations affecting ERMN in ASD compared with controls. Our data indicate that inherited methylation alterations detectable in blood DNA, due to either genetic or epigenetic defects, can affect gene expression and contribute to ASD susceptibility most likely in an additive manner, and implicate ERMN as a novel ASD gene.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.