Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder.

Journal Article (Journal Article)

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the brain, acting via the GABAA receptors. The GABAA receptors are comprised of several different homologous subunits, forming a group of receptors that are both structurally and functionally diverse. 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). Based on these data, we examined 16 single nucleotide polymorphisms (SNPs) located within GABRB3, GABRA5 and GABRG3 for linkage disequilibrium (LD) in 226 AutD families (AutD patients and parents). Genotyping was performed using either OLA (oligonucleotide ligation assay), or SSCP (single strand conformation polymorphism) followed by DNA sequencing. We tested for LD using the Pedigree Disequilibrium Test (PDT). PDT results gave significant evidence that AutD is associated with two SNPs located within the GABRG3 gene (exon5_539T/C, p=0.02 and intron5_687T/C, p=0.03), suggesting that the GABRG3 gene or a gene nearby contributes to genetic risk in AutD.

Full Text

Duke Authors

Cited Authors

  • Menold, MM; Shao, Y; Wolpert, CM; Donnelly, SL; Raiford, KL; Martin, ER; Ravan, SA; Abramson, RK; Wright, HH; Delong, GR; Cuccaro, ML; Pericak-Vance, MA; Gilbert, JR

Published Date

  • 2001

Published In

Volume / Issue

  • 15 / 3-4

Start / End Page

  • 245 - 259

PubMed ID

  • 12092907

International Standard Serial Number (ISSN)

  • 0167-7063

Digital Object Identifier (DOI)

  • 10.3109/01677060109167380


  • eng

Conference Location

  • England