Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Further analysis indicated that no associations were found between GABRB3 SNPs and autism on rs2081648 [OR = 0.84 (95% CI) = 0.41-1.72, I<sup>2</sup> = 89.2%] and rs1426217 [OR = 1.13 (95% CI) = 0.64-2.0, I<sup>2</sup> = 83%].
|
29725984 |
2018 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GABRB3 have frequently been associated with epilepsy and autism, consistent with its role in neurodevelopment.
|
28009282 |
2016 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
Considering our Argentinean ASD sample, it can be inferred that GABRB3 would be involved in the etiology of autism through interaction with GABRD.
|
24249596 |
2014 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
One 15q11-q13 locus encodes the GABA(A) receptor β3 subunit gene (GABRB3), which has been implicated by several studies in both autism and absence epilepsy, and the co-morbidity of epilepsy in autism is well established.
|
19935738 |
2011 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
The association and linkage study for the gamma-aminobutyric acid type A receptor beta3 subunit gene (GABRB3), located within the chromosome 15q11-q13 autism candidate region, and ASD have been evaluated.
|
17230033 |
2006 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
Examining paternal transmissions only, we found marginal evidence for LD with a protective allele at marker D15S11 in the ASD families (Chi-sq 7 df, P = 0.05) and marginal evidence for risk alleles at markers D15S1506 (Chi-sq 13.7, 6 df, P = 0.06), GABRB3 (Chi-sq 15.9, 8 df, P = 0.11) and D15S1002 (Chi-sq 17.7, 9 df, P = 0.08) in the autism only families.
|
15952184 |
2005 |
Autistic Disorder
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
These results suggest an overlapping pathway of gene dysregulation within 15q11-q13 in Rett, Angelman and autism and implicate MeCP2 in the regulation of UBE3A and GABRB3 expressions in the postnatal mammalian brain.
|
15615769 |
2005 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Association between a GABRB3 polymorphism and autism.
|
11920158 |
2002 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
CTD_human |
Association between a GABRB3 polymorphism and autism.
|
11920158 |
2002 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have screened the families of the Collaborative Linkage Study of Autism for several markers spanning a candidate region covering approximately 2 Mb and including the Angelman syndrome gene (UBE3A) and a cluster of gamma-aminobutyric acid (GABA(A)) receptor subunit genes (GABRB3, GABRA5, and GABRG3).
|
11543639 |
2001 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Three of the GABAA receptor subunit genes (GABRB3, GABRA5 and GABRG3) form a cluster on chromosome 15q11-q13, in a region that has been genetically associated with autistic disorder (AutD).
|
12092907 |
2001 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
Unlike Cook et al., we failed to detect significant linkage disequilibrium between GABRB3 155CA-2 and AD in our sample.
|
10686550 |
2000 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Additionally, 15q11-q13 in the region of GABRB3 holds interest as a potential site of a susceptibility gene for autism.
|
10374739 |
1999 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
No significant evidence of association or linkage was found at any of the markers tested, indicating that the 5-HTT and the GABRB3 genes are unlikely to play a major role in the aetiology of autism in our family data set.
|
10490705 |
1999 |
Autistic Disorder
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Chromosome 15q11-q13 has been implicated in the genetic etiology of AD based on (1) cytogenetic abnormalities; (2) increased recombination frequency in this region in AD versus non-AD families; (3) suggested linkage with markers D15S156, D15S219, and D15S217; and (4) evidence for significant association with polymorphisms in the gamma-aminobutyric acid receptor subunit B3 gene (GABRB3).
|
10644429 |
1999 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
CTD_human |
The convergence of GABRB3 as a positional and functional candidate along with the linkage-disequilibrium data suggests the need for further investigation of the role of GABRB3 or adjacent genes in autistic disorder.
|
9545402 |
1998 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
BEFREE |
The convergence of GABRB3 as a positional and functional candidate along with the linkage-disequilibrium data suggests the need for further investigation of the role of GABRB3 or adjacent genes in autistic disorder.
|
9545402 |
1998 |