Literature DB >> 26239769

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

Carla V Sesarini1, Lucas Costa2, Nora Grañana3, Miguel Garcia Coto4, Roberto C Pallia5, Pablo F Argibay2.   

Abstract

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.
Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Entities:  

Keywords:  Allelic and genotypic association; Argentinean sample; Epilepsy

Mesh:

Substances:

Year:  2015        PMID: 26239769     DOI: 10.1016/j.psychres.2015.07.077

Source DB:  PubMed          Journal:  Psychiatry Res        ISSN: 0165-1781            Impact factor:   3.222


  9 in total

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Review 8.  Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders.

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  9 in total

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