Association between GABA(A) receptor subunit polymorphisms and autism spectrum disorder (ASD)
Carla V Sesarini1, Lucas Costa1, Nora Grañana2
1Instituto de Ciencias Básicas y Medicina Experimental (ICBME), Instituto Universitario del Hospital Italiano de Buenos Aires (HIBA), Potosi 4240 (C1199ACL), CABA, Argentina.
Psychiatry Research
|August 5, 2015
Summary
Genetic variations in GABA receptors are linked to autism spectrum disorder (ASD). Specific GABRA4 and GABRG2 gene variants were found more frequently in individuals with ASD, suggesting a role in the condition.
Area of Science:
- Neuroscience
- Genetics
- Autism Spectrum Disorder Research
Background:
- Autism Spectrum Disorder (ASD) is potentially linked to an altered excitation/inhibition balance in the brain.
- Gamma-aminobutyric acid type A (GABA(A)) receptors mediate synaptic inhibition and are implicated in ASD pathophysiology.
Purpose of the Study:
- To investigate the association between polymorphisms in Gamma-Aminobutyric Acid Receptors (GABARs) and ASD.
- To analyze allele, genotype, and haplotype frequencies of specific GABAR gene variants in an ASD cohort.
Main Methods:
- Case-control study comparing allele and genotype frequencies of GABAR polymorphisms between ASD cases and controls.
- Haplotype analysis was performed for specific single nucleotide polymorphisms (SNPs) including rs1912960 (GABRA4) and rs211037 (GABRG2).
Main Results:
- Significant differences in allele and genotype frequencies were observed for the rs1912960 polymorphism in the GABRA4 gene between ASD cases and controls.
- The haplotype rs1912960 (GABRA4) and rs211037 (GABRG2) was found to be overrepresented in individuals with ASD.
- The GABRA4 gene variant rs1912960 showed an independent association with ASD in the Argentinean dataset, also in combination with GABRG2.
Conclusions:
- Genetic variations in GABRA4, specifically rs1912960, are associated with ASD in the studied population.
- The combined effect of GABRA4 and GABRG2 variants may contribute to the risk of developing ASD.
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