ArticleMolecular autism2014
Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.
Article in Molecular autism, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00494754 (Clinical and Genetic Study of Autism Spectrum Disorder), which is not on this map. Cited by 37 papers, 3 of them syntheses that pooled it.
What it found
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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.
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.
Clinical and Genetic Study of Autism Spectrum Disorder
Who cites it
37 citing papers in PubMed, 3 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- Motor cortex excitability and inhibitory imbalance in autism spectrum disorder assessed with transcranial magnetic stimulation: a systematic review.Translational psychiatry · 2019Pooled it
- Meta-analysis of GABRB3 Gene Polymorphisms and Susceptibility to Autism Spectrum Disorder.Journal of molecular neuroscience : MN · 2018Pooled it
- Meta-Analysis of the Association between GABA Receptor Polymorphisms and Autism Spectrum Disorder (ASD).Journal of molecular neuroscience : MN · 2018Pooled it
- GABRB3 Gene Polymorphisms Influences the Analgesic Response to Acupuncture Treatment in Patients With Chronic Knee Pain: A Randomized Controlled Neuroimaging Transcriptomics Study.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Trial
- GABAergic Inhibition Gates Perceptual Awareness During Binocular Rivalry.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Trial
- School Functions in Unaffected Siblings of Youths with Autism Spectrum Disorders.Journal of autism and developmental disorders · 2017Trial
- Drug Repurposing for Treating NCOR-Related Intellectual Disability.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Role of GABAMolecular biology reports · 2026Article
- Autism Spectrum Disorder in the Genomic Era: A Comprehensive Review of Etiology, Precision Diagnostics, Clinical Outcomes, and Emerging Gene-Editing Therapies.Neuropsychiatric disease and treatment · 2026Review
- Dosage effect of copy number variation in epilepsy and ten regions of the human brain.Scientific reports · 2025Article
- Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.American journal of human genetics · 2025Article
- Genetic etiology of autism spectrum disorder in the African population: a scoping review.Frontiers in genetics · 2024Article
- Neuroimaging genetics approaches to identify new biomarkers for the early diagnosis of autism spectrum disorder.Molecular psychiatry · 2023Review
- Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors ofiScience · 2023Article
- GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands.Journal of molecular neuroscience : MN · 2022Article
- GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.Journal of neurology · 2022Article
- Review
- Selective behavioural impairments in mice heterozygous for the cross disorder psychiatric risk gene DLG2.Genes, brain, and behavior · 2022Article
- An Association Study of Gamma-Aminobutyric Acid Type A Receptor Variants and Susceptibility to Autism Spectrum Disorders.Journal of autism and developmental disorders · 2021Article
- Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome.Molecular autism · 2021Article
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGABRB3 is a position candidate gene at chromosome 15q12 that has been implicated in the neurobiology of autism spectrum disorders (ASD). The aim of this study was to examine the genetic association of GABRB3 with ASD.
methodsThe sample consisted of 356 patients with clinical diagnosis of ASD according to the DSM-IV diagnostic criteria and confirmed by the Autism Diagnostic Interview-Revised and 386 unrelated controls. We searched for mutations at all the exonic regions and 1.6 Kb of the 5' region of GABRB3 in the genomic DNA of all the participants using the Sanger sequencing. We implemented a case-control association analysis of variants detected in this sample, and conducted a reporter gene assay to assess the functional impact of variants at the 5' regulatory region.
resultsWe detected six known common SNPs; however, they were not associated with ASD. Besides, a total of 22 rare variants (12 at 5' regulatory, 4 at intronic, and 6 at exonic regions) were detected in 18 patients and 6 controls. The frequency of rare variants was significantly higher in the patient group than in the control group (18/356 versus 6/386, odds ratio = 3.37, P = 0.007). All the 12 rare variants at the 5' regulatory region were only detected in 7 patients, but not in any of the controls (7/356 versus 0/386, Fisher's exact test, P = 0.006). Two patients carried multiple rare variants. Family studies showed that most of these rare variants were transmitted from their parents. Reporter gene assays revealed that four rare variants at the 5' regulatory region and 1 at exon 1a untranslated region had elevated reporter gene activities compared to two wild type alleles.
conclusionsOur data suggest rare variants of GABRB3 might be associated with ASD, and increased GABRB3 expression may contribute to the pathogenesis of ASD in some patients.
trial registrationCLINICAL TRIAL REGISTRATION IDENTIFIER: NCT00494754.
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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.