RESUMO

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.

Assuntos

Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Estudos de Associação Genética/métodos , Polimorfismo de Nucleotídeo Único/genética , Receptores de GABA-A/genética , Argentina/epidemiologia , Transtorno do Espectro Autista/epidemiologia , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença/genética , Haplótipos/genética , Humanos , Masculino , Subunidades Proteicas/genética