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Alteration in gamma aminobutyric acid (GABA), the principal inhibitory neurotransmitter, is speculated to be a potential risk factor for Autism Spectrum Disorder (ASD) due to an altered expression in the brain. Sensory, social, and emotional deficits of subjects with ASD were reported to be caused by an imbalance between excitatory and inhibitory neurotransmission as well as GABAergic dysfunction caused by inadequate receptor function. We for the first time studied association between ASD and a missense coding variant rs3810651 (I478F) in the GABRQ gene, encoding for one of the subunits of GABA A  receptors. Stratified analysis on families with ASD probands (N = 251) and ethnically matched control subjects (N = 250) revealed marginally higher frequency of “A” allele and “AA” genotype in female ASD probands as compared to gender matched controls. Female probands demonstrated higher severity for Verbal communication (χ 2  = 5.75,  P  = 0.01), Activity level (χ 2  = 7.26,  P   = 0.007), as well as Level and consistency of intellectual response (χ 2  = 7.83  P  = 0.005) in presence of “A/AA” warranting further in-depth investigation on the role of rs3810651 in ASD.

A pioneering study indicate role of GABRQ rs3810651 in ASD severity of Indo-Caucasoid female probands