ArticleMolecular psychiatry2019
An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder.
Article in Molecular psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.
- Pooled it
- Roles of NRXN1 in neuropsychiatric disorders: from genetic lesion to molecular mechanism.Frontiers in neuroscience · 2026Review
- Review
- TemporalVAE: atlas-assisted temporal mapping of time-series single-cell transcriptomes during embryogenesis.Nature cell biology · 2025Article
- Analysis of neuronal activity impairment in iPSC-derived neurons from idiopathic autism patients.iScience · 2025Article
- Age-Dependent Effects of Loss of Contactin-Associated Protein-Like 2, an Autism-Associated Gene, on the Acquisition and Recall of Fear Memory.Autism research : official journal of the International Society for Autism Research · 2025Article
- MicroRNAs as Regulators, Biomarkers, and Therapeutic Targets in Autism Spectrum Disorder.Molecular neurobiology · 2025Review
- Shared rare genetic variants in multiplex autism families suggest a social memory gene under selection.Scientific reports · 2025Article
- Experience and attitudes of general psychiatrists in Turkiye towards persons with intellectual disability/intellectual developmental disorders: a cross-sectional survey.International journal of developmental disabilities · 2025Article
- Perspectives of non-physician partners on barriers and facilitators to AYA cancer care in Latin America.Cancer medicine · 2024Article
- Landscape ofJournal of clinical medicine · 2024Review
- Allelic heterogeneity and abnormal vesicle recycling inFrontiers in molecular neuroscience · 2024Article
- Diversity and Classification of Genetic Variations in Autism Spectrum Disorder.International journal of molecular sciences · 2023Review
- Whole Genome Analysis of Dizygotic Twins With Autism Reveals Prevalent Transposon Insertion Within Neuronal Regulatory Elements: Potential Implications for Disease Etiology and Clinical Assessment.Journal of autism and developmental disorders · 2023Article
- Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis.Molecular psychiatry · 2023Article
- Prediction accuracy of regulatory elements from sequence varies by functional sequencing technique.Frontiers in cellular and infection microbiology · 2023Article
- The role of microRNAs in the molecular link between circadian rhythm and autism spectrum disorder.Animal cells and systems · 2023Review
- Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder.Molecular psychiatry · 2022Article
- MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants.Human mutation · 2022Article
- MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders.Genes · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A number of genetic studies have identified rare protein-coding DNA variations associated with autism spectrum disorder (ASD), a neurodevelopmental disorder with significant genetic etiology and heterogeneity. In contrast, the contributions of functional, regulatory genetic variations that occur in the extensive non-protein-coding regions of the genome remain poorly understood. Here we developed a genome-wide analysis to identify the rare single nucleotide variants (SNVs) that occur in non-coding regions and determined the regulatory function and evolutionary conservation of these variants. Using publicly available datasets and computational predictions, we identified SNVs within putative regulatory regions in promoters, transcription factor binding sites, and microRNA genes and their target sites. Overall, we found that the regulatory variants in ASD cases were enriched in ASD-risk genes and genes involved in fetal neurodevelopment. As with previously reported coding mutations, we found an enrichment of the regulatory variants associated with dysregulation of neurodevelopmental and synaptic signaling pathways. Among these were several rare inherited SNVs found in the mature sequence of microRNAs predicted to affect the regulation of ASD-risk genes. We show a paternally inherited miR-873-5p variant with altered binding affinity for several risk-genes including NRXN2 and CNTNAP2 putatively overlay maternally inherited loss-of-function coding variations in NRXN1 and CNTNAP2 to likely increase the genetic liability in an idiopathic ASD case. Our analysis pipeline provides a new resource for identifying loss-of-function regulatory DNA variations that may contribute to the genetic etiology of complex disorders.
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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.