Association analysis of autistic disorder and SNPS in the chromosome 15 GABAA receptor subunit genes

M. M. Menold, Y. J. Shao, E. R. Martin, M. L. Cuccaro, M. A. Pericak-Vance, J. R. Gilbert

Research output: Contribution to journalArticlepeer-review


The neurotransmitter gamma-aminobutyric acid (GABA) mediates synaptic transmission in the adult brain through its interaction with the postsynaptic GABAA receptors. These receptors are pentameric structures comprised of several different homologous subunits that together form a ligand-gated ion channel. The functional properties of a particular receptor are dependent upon the subunit composition. Genes for three of the receptor subunits, GABRB3, GABRA5 and GABRG3 are located on chromosome 15q11-q13 in a region that has been associated with autistic disorder (AutD). Previous work has shown evidence in support of linkage and association of AutD to the GABRB3 gene. In order to further define the association between the postsynaptic GABAA receptors and AutD, we analyzed 16 single nucleotide polymorphisms (SNPs) located within the GABAA receptor subunit genes, in 226 AutD families. The pedigree disequilibrium test (PDT) was used to test for linkage disequilibrium (LD). PDT results showed evidence for significant LD with two adjacent SNPs in the GABRG3 gene: exon5_539T/C, P = 0.02 and intron5_687T/C, P = 0.03. All other results were not significant (P>0.05). These data suggest that the GABRG3 gene may contribute to genetic risk in AutD.

Original languageEnglish (US)
Number of pages1
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number7
StatePublished - Oct 8 2001

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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