ArticleTranslational psychiatry2020
Large epigenome-wide association study of childhood ADHD identifies peripheral DNA methylation associated with disease and polygenic risk burden.
Article in Translational psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 5 of them syntheses that pooled it.
What it found
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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.
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Who cites it
52 citing papers in PubMed, 5 syntheses or guidelines pooled it, 90 citations in OpenAlex.
- Trans-ancestry meta-analysis of genome wide association studies of inhibitory control.Molecular psychiatry · 2023Pooled it
- ADHD genetic burden associates with older epigenetic age: mediating roles of education, behavioral and sociodemographic factors among older adults.Clinical epigenetics · 2023Pooled it
- Epigenome-wide DNA methylation in externalizing behaviours: A review and combined analysis.Neuroscience and biobehavioral reviews · 2023Pooled it
- Systematic Review: How the Attention-Deficit/Hyperactivity Disorder Polygenic Risk Score Adds to Our Understanding of ADHD and Associated Traits.Journal of the American Academy of Child and Adolescent Psychiatry · 2021Pooled it
- Epigenome-Wide Association Study of Thyroid Function Traits Identifies Novel Associations of fT3 With KLF9 and DOT1L.The Journal of clinical endocrinology and metabolism · 2021Pooled it
- A comprehensive overview of the biological foundations of ADHD.Bioscience reports · 2026Review
- Prenatal stress selectively enhances locomotor hyperactivity in male mice with embryonic loss ofFrontiers in psychiatry · 2026Article
- Childhood obesity and DNA methylation in an epigenome-wide association study: findings from the Hokkaido Birth Cohort.Clinical epigenetics · 2025Article
- Early life adversity and adult attention-deficit/hyperactivity disorder (ADHD): Pathways to persistence and adult susceptibility.Neuroscience and biobehavioral reviews · 2025Review
- Brain region and cell type-specific DNA methylation profiles in association with ADHD.Scientific reports · 2025Article
- NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications.International journal of molecular sciences · 2025Review
- Epigenetic age across development in children and adolescents with ADHD.Psychiatry research · 2025Article
- Associations and Related Mechanisms of Attention-Deficit Hyperactivity Disorder and Allergic Rhinitis in Children.Psychiatry and clinical psychopharmacology · 2025Review
- Rare Variant Analyses in Ancestrally Diverse Cohorts Reveal Novel ADHD Risk Genes.medRxiv : the preprint server for health sciences · 2025Article
- Combined effects of global DNA methylation, blood lead and total urinary arsenic levels on developmental delay in preschool children.Environmental health : a global access science source · 2025Article
- Genome-wide DNA methylation analysis of hippocampal tissue in a murine model of attention deficit-hyperactivity disorder.PloS one · 2025Article
- Interaction of mercury exposure and DNA methylation with sustained attention in children in a novel analysis of epigenetic susceptibility.Environmental epigenetics · 2025Article
- The clinical use of epigenetics in psychiatry: a narrative review of epigenetic mechanisms, key candidate genes, and precision psychiatry.Frontiers in psychiatry · 2025Review
- Integrative Multi-Omics Approach for Improving Causal Gene Identification.Genetic epidemiology · 2025Article
- Gestational epigenetic age and ADHD symptoms in childhood: a prospective, multi-cohort study.Molecular psychiatry · 2024Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
Abstract
Epigenetic variation in peripheral tissues is being widely studied as a molecular biomarker of complex disease and disease-related exposures. To date, few studies have examined differences in DNA methylation associated with attention-deficit hyperactivity disorder (ADHD). In this study, we profiled genetic and methylomic variation across the genome in saliva samples from children (age 7-12 years) with clinically established ADHD (N = 391) and nonpsychiatric controls (N = 213). We tested for differentially methylated positions (DMPs) associated with both ADHD diagnosis and ADHD polygenic risk score, by using linear regression models including smoking, medication effects, and other potential confounders in our statistical models. Our results support previously reported associations between ADHD and DNA methylation levels at sites annotated to VIPR2, and identify several novel disease-associated DMPs (p < 1e-5), although none of them were genome-wide significant. The two top-ranked, ADHD-associated DMPs (cg17478313 annotated to SLC7A8 and cg21609804 annotated to MARK2) are also significantly associated with nearby SNPs (p = 1.2e-46 and p = 2.07e-59), providing evidence that disease-associated DMPs are under genetic control. We also report a genome-wide significant association between ADHD polygenic risk and variable DNA methylation at a site annotated to the promoter of GART and SON (p = 6.71E-8). Finally, we show that ADHD-associated SNPs colocalize with SNPs associated with methylation levels in saliva. This is the first large-scale study of DNA methylation in children with ADHD. Our results represent novel epigenetic biomarkers for ADHD that may be useful for patient stratification, reinforce the importance of genetic effects on DNA methylation, and provide plausible molecular mechanisms for ADHD risk variants.
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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.