ArticleGenome medicine2018
Elevated polygenic burden for autism is associated with differential DNA methylation at birth.
Article in Genome medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 69 papers, 5 of them syntheses that pooled it.
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Who cites it
69 citing papers in PubMed, 5 syntheses or guidelines pooled it, 119 citations in OpenAlex.
- DNA Methylation Biomarkers for Young Children with Idiopathic Autism Spectrum Disorder: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Meta-analysis of epigenome-wide associations between DNA methylation at birth and childhood cognitive skills.Molecular psychiatry · 2022Pooled 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
- Pooled it
- Case-control meta-analysis of blood DNA methylation and autism spectrum disorder.Molecular autism · 2018Pooled it
- Article
- Genome-Wide DNA Methylation Profiling of Peripheral Blood Mononuclear Cells Reveals Epigenetic Signatures in Autism Spectrum Disorder.International journal of molecular sciences · 2026Article
- Biopsychosocial factors during pregnancy and their implications for autism spectrum disorder: a scoping review.BMC pediatrics · 2026Article
- Epigenome-wide analysis identifies DNA methylation signatures associated with the infant pupillary light reflex, a candidate intermediate phenotype for autism.Scientific reports · 2026Article
- Systematic Review and Meta-Analysis: Phenotypic Correlates of the Autism Polygenic Score.JAACAP open · 2025Article
- An epigenome-wide association study in the case-control study to explore early development identifies differential DNA methylation near ZFP57 as associated with autistic traits.Journal of neurodevelopmental disorders · 2025Article
- Latest clinical frontiers related to autism diagnostic strategies.Cell reports. Medicine · 2025Review
- Article
- Article
- DNA Methylation in Autism Spectrum Disorders: Biomarker or Pharmacological Target?Brain sciences · 2024Review
- Phosphodiesterase 2 and Its Isoform A as Therapeutic Targets in the Central Nervous System Disorders.CNS & neurological disorders drug targets · 2024Review
- Advances in the role of the GADD45 family in neurodevelopmental, neurodegenerative, and neuropsychiatric disorders.Frontiers in neuroscience · 2024Review
- Intercontinental insights into autism spectrum disorder: a synthesis of environmental influences and DNA methylation.Environmental epigenetics · 2024Review
- Pre-autism: What a paediatrician should know about early diagnosis of autism.World journal of clinical pediatrics · 2023Review
- Sexually dimorphic methylation patterns characterize the placenta and blood from extremely preterm newborns.BMC biology · 2023Article
9 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
23 authors at 6 institutions in 3 countries.
Funding
Abstract
backgroundAutism spectrum disorder (ASD) is a severe neurodevelopmental disorder characterized by deficits in social communication and restricted, repetitive behaviors, interests, or activities. The etiology of ASD involves both inherited and environmental risk factors, with epigenetic processes hypothesized as one mechanism by which both genetic and non-genetic variation influence gene regulation and pathogenesis. The aim of this study was to identify DNA methylation biomarkers of ASD detectable at birth.
methodsWe quantified neonatal methylomic variation in 1263 infants-of whom ~ 50% went on to subsequently develop ASD-using DNA isolated from archived blood spots taken shortly after birth. We used matched genotype data from the same individuals to examine the molecular consequences of ASD-associated genetic risk variants, identifying methylomic variation associated with elevated polygenic burden for ASD. In addition, we performed DNA methylation quantitative trait loci (mQTL) mapping to prioritize target genes from ASD GWAS findings.
resultsWe identified robust epigenetic signatures of gestational age and prenatal tobacco exposure, confirming the utility of DNA methylation data generated from neonatal blood spots. Although we did not identify specific loci showing robust differences in neonatal DNA methylation associated with later ASD, there was a significant association between increased polygenic burden for autism and methylomic variation at specific loci. Each unit of elevated ASD polygenic risk score was associated with a mean increase in DNA methylation of - 0.14% at two CpG sites located proximal to a robust GWAS signal for ASD on chromosome 8.
conclusionsThis study is the largest analysis of DNA methylation in ASD undertaken and the first to integrate genetic and epigenetic variation at birth. We demonstrate the utility of using a polygenic risk score to identify molecular variation associated with disease, and of using mQTL to refine the functional and regulatory variation associated with ASD risk variants.
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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.