Association between GABA(A) receptor subunit polymorphisms and autism spectrum disorder (ASD)

Psychiatry Res. 2015 Sep 30;229(1-2):580-2. doi: 10.1016/j.psychres.2015.07.077. Epub 2015 Jul 28.


ASD might be associated with alterations in excitation/inhibition ratio and GABA(A) has been implicated since it mediates synaptic inhibition. Polymorphisms in GABA receptor (GABAR) were studied: significant differences in allele and genotype frequencies observed between cases and controls (rs1912960, GABRA4). Haplotype analysis: rs1912960 (GABRA4) and rs211037 (GABRG2) overrepresented in cases. Rs1912960 has been associated with ASD and rs211037 with epilepsy. GABRA4 is associated with autism in the Argentinean dataset independently or in combination with GABRG2.

Keywords: Allelic and genotypic association; Argentinean sample; Epilepsy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Argentina / epidemiology
  • Autism Spectrum Disorder / diagnosis*
  • Autism Spectrum Disorder / epidemiology
  • Autism Spectrum Disorder / genetics*
  • Case-Control Studies
  • Female
  • Genetic Association Studies / methods*
  • Genetic Predisposition to Disease / genetics
  • Haplotypes / genetics
  • Humans
  • Male
  • Polymorphism, Single Nucleotide / genetics*
  • Protein Subunits / genetics
  • Receptors, GABA-A / genetics*


  • GABRA4 protein, human
  • GABRG2 protein, human
  • Protein Subunits
  • Receptors, GABA-A