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Relevance to Autism

Nominal association between the GABRG3 gene and ASD has been observed in a Caucasian cohort (Menold et al., 2001) and, more recently, a Chinese ASD cohort (Wang et al., 2018); however, other studies have failed to show association between this gene and ASD (McCauley et al., 2004; Ma et al., 2005; Tochigi et al., 2007; Kelemenova et al., 2010; Mahdavi et al., 2018). Yang et al., 2017 found association between the GABRG3 SNP rs208129 and symptom-based phenotypes, as evaluated by CARS and ABC, in a cohort of 99 Chinese Han children and adolescents with ASD. Wang et al., identified a rare missense variant that was predicted to be deleterious (p.Val233Met) that was statistically enriched in Han Chinese ASD cases compared to controls (9/512 ASD cases vs. 2/575 controls; p = 0.020).

Molecular Function

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. The protein encoded by this gene is a gamma subunit, which contains the benzodiazepine binding site.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder.
ASD
Positive Association
Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han pop...
ASD
Positive Association
GABAA receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic sp...
ASD subphenotype (CARS scores)
Negative Association
Meta-Analysis of the Association between GABA Receptor Polymorphisms and Autism Spectrum Disorder (ASD).
ASD
Negative Association
Polymorphisms of candidate genes in Slovak autistic patients.
ASD
Negative Association
No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population.
ASD
Negative Association
Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.
ASD
Negative Association
A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism.
ASD
Support
An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as ris...

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1032R001 
 missense_variant 
 c.697G>A 
 p.Val233Met 
 De novo 
 NA 
  
 GEN1032R002 
 missense_variant 
 c.697G>A 
 p.Val233Met 
 Familial 
 Maternal 
  
 GEN1032R003 
 missense_variant 
 c.697G>A 
 p.Val233Met 
 Familial 
 Maternal 
  
 GEN1032R004 
 missense_variant 
 c.697G>A 
 p.Val233Met 
 Familial 
 Maternal 
  
 GEN1032R005 
 missense_variant 
 c.697G>A 
 p.Val233Met 
 Familial 
 Maternal 
  
 GEN1032R006 
 missense_variant 
 c.697G>A 
 p.Val233Met 
 Familial 
 Paternal 
  
 GEN1032R007 
 missense_variant 
 c.697G>A 
 p.Val233Met 
 Familial 
 Paternal 
  
 GEN1032R008 
 missense_variant 
 c.697G>A 
 p.Val233Met 
 Familial 
 Paternal 
  
 GEN1032R009 
 missense_variant 
 c.697G>A 
 p.Val233Met 
 Familial 
 Paternal 
  
 GEN1032R010 
 missense_variant 
 c.1093C>T 
 p.Pro365Ser 
 De novo 
 NA 
  
 GEN1032R011 
 missense_variant 
 c.1093C>T 
 p.Pro365Ser 
 Familial 
 Paternal 
  
 GEN1032R012 
 missense_variant 
 c.1093C>T 
 p.Pro365Ser 
 Familial 
 Paternal 
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN1032C001 
 synonymous_variant 
 rs140674 
 c.507T>C 
 p.(=) 
 226 Caucasian ASD families 
 Discovery 
 GEN1032C002 
 intron_variant 
 rs140675 
 c.574+81T>C 
  
 226 Caucasian ASD families 
 Discovery 
 GEN1032C003 
 intron_variant 
 rs208129 
 c.271-147049A>T 
  
 99 Han Chinese ASD children and adolescents (79 male, 20 female; age 8.53 0.42 years; 82 with autism, 17 with PDD-NOS) 
 Discovery 
 GEN1032C004 
 intron_variant 
 rs7180500 
 c.203-18722C>A 
  
 512 Chinese Han ASD trios and 575 healthy controls 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 10
  construct
15
Duplication
 1
 
15
Duplication
 3
 
15
Duplication
 7
 
15
Duplication
 2
 
15
Duplication
 2
 
15
Deletion
 1
 
15
Deletion-Duplication
 98
 
15
Duplication
 7
 
15
Duplication
 66
  construct
15
Duplication
 5
 
15
Duplication
 14
 
15
Duplication
 3
 
15
Deletion-Duplication
 9
 
15
Duplication
 4
 

No Animal Model Data Available

No PIN Data Available
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