RGD Reference Report - Investigation of autism and GABA receptor subunit genes in multiple ethnic groups. - Rat Genome Database

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Investigation of autism and GABA receptor subunit genes in multiple ethnic groups.

Authors: Collins, AL  Ma, D  Whitehead, PL  Martin, ER  Wright, HH  Abramson, RK  Hussman, JP  Haines, JL  Cuccaro, ML  Gilbert, JR  Pericak-Vance, MA 
Citation: Collins AL, etal., Neurogenetics. 2006 Jul;7(3):167-74. Epub 2006 Jun 13.
RGD ID: 6480254
Pubmed: PMID:16770606   (View Abstract at PubMed)
PMCID: PMC1513515   (View Article at PubMed Central)
DOI: DOI:10.1007/s10048-006-0045-1   (Journal Full-text)

Autism is a neurodevelopmental disorder of complex genetics, characterized by impairment in social interaction and communication, as well as repetitive behavior. Multiple lines of evidence, including alterations in levels of GABA and GABA receptors in autistic patients, indicate that the GABAergic system, which is responsible for synaptic inhibition in the adult brain, may be involved in autism. Previous studies in our lab indicated association of noncoding single nucleotide polymorphisms (SNPs) within a GABA receptor subunit gene on chromosome 4, GABRA4, and interaction between SNPs in GABRA4 and GABRB1 (also on chromosome 4), within Caucasian autism patients. Studies of genetic variation in African-American autism families are rare. Analysis of 557 Caucasian and an independent population of 54 African-American families with 35 SNPs within GABRB1 and GABRA4 strengthened the evidence for involvement of GABRA4 in autism risk in Caucasians (rs17599165, p=0.0015; rs1912960, p=0.0073; and rs17599416, p=0.0040) and gave evidence of significant association in African-Americans (rs2280073, p=0.0287 and rs16859788, p=0.0253). The GABRA4 and GABRB1 interaction was also confirmed in the Caucasian dataset (most significant pair, rs1912960 and rs2351299; p=0.004). Analysis of the subset of families with a positive history of seizure activity in at least one autism patient revealed no association to GABRA4; however, three SNPs within GABRB1 showed significant allelic association; rs2351299 (p=0.0163), rs4482737 (p=0.0339), and rs3832300 (p=0.0253). These results confirmed our earlier findings, indicating GABRA4 and GABRB1 as genes contributing to autism susceptibility, extending the effect to multiple ethnic groups and suggesting seizures as a stratifying phenotype.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autistic disorder  IAGP 6480254DNA:SNPs: :rs17599165 more ...RGD 
autistic disorder  IAGP 6480254DNA:SNPs: :rs2351299 more ...RGD 
autistic disorder  ISOGABRA4 (Homo sapiens)6480254; 6480254DNA:SNPs: :rs17599165 more ...RGD 
autistic disorder  ISOGABRB1 (Homo sapiens)6480254; 6480254DNA:SNPs: :rs2351299 more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Gabra4  (gamma-aminobutyric acid type A receptor subunit alpha 4)
Gabrb1  (gamma-aminobutyric acid type A receptor subunit beta1)

Genes (Mus musculus)
Gabra4  (gamma-aminobutyric acid type A receptor subunit alpha 4)
Gabrb1  (gamma-aminobutyric acid type A receptor subunit beta 1)

Genes (Homo sapiens)
GABRA4  (gamma-aminobutyric acid type A receptor subunit alpha4)
GABRB1  (gamma-aminobutyric acid type A receptor subunit beta1)


Additional Information