SynthesisBMC neuroscience2021
A systematic review of common genetic variation and biological pathways in autism spectrum disorder.
Synthesis in BMC neuroscience, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Parental Perspectives on Early Life Screening and Genetic Testing for ASD: A Systematic Review.Journal of autism and developmental disorders · 2025Pooled it
- Multimodal imaging reveals resilient memory networks in carriers of pathogenic ARID1B variants.Translational psychiatry · 2026Article
- CLinNET: An Interpretable and Uncertainty-Aware Deep Learning Framework for Multi-Modal Clinical Genomics.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Review of Autism Spectrum Disorder (ASD): Epidemiology, Aetiology, Pathology, and Pharmacological Treatment.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Excitatory/Inhibitory balance in autism spectrum disorders: Integrating genetic, neurotransmitter and computational perspectives.AIMS neuroscience · 2025Review
- Dopamine Dysregulation in Reward and Autism Spectrum Disorder.Brain sciences · 2024Review
- Article
- Correlation of mutated gene and signalling pathways in ASD.IBRO neuroscience reports · 2023Review
- Article
- Article
- Review
- Heterogeneity thwarts autism explanatory power: A proposal for endophenotypes.Frontiers in psychiatry · 2022Review
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAutism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social communication and interaction. Common genetic variation appears to play a key role in the development of this condition. In this systematic review, we describe the relationship between genetic variations and autism. We created a gene dataset of the genes involved in the pathogenesis of autism and performed an over-representation analysis to evaluate the biological functions and molecular pathways that may explain the associations between these variants and the development of ASD.
results177 studies and a gene set composed of 139 were included in this qualitative systematic review. Enriched pathways in the over-representation analysis using the KEGG pathway database were mostly associated with neurotransmitter receptors and their subunits. Major over-represented biological processes were social behavior, vocalization behavior, learning and memory. The enriched cellular component of the proteins encoded by the genes identified in this systematic review were the postsynaptic membrane and the cell junction.
conclusionsAmong the biological processes that were examined, genes involved in synaptic integrity, neurotransmitter metabolism, and cell adhesion molecules were significantly involved in the development of autism.
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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.