title: Association between GABA(A) receptor subunit polymorphisms and autism spectrum disorder (ASD).
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.
authors.affiliation: Instituto de Ciencias Básicas y Medicina Experimental (ICBME), Instituto Universitario del Hospital Italiano de Buenos Aires (HIBA), Potosi 4240 (C1199ACL), CABA, Argentina. Electronic address: carla.sesarini@hospitalitaliano.org.ar.
authors.forename: Carla V
authors.initials: CV
authors.lastname: Sesarini
authors.affiliation: Instituto de Ciencias Básicas y Medicina Experimental (ICBME), Instituto Universitario del Hospital Italiano de Buenos Aires (HIBA), Potosi 4240 (C1199ACL), CABA, Argentina.
authors.forename: Lucas
authors.initials: L
authors.lastname: Costa
authors.affiliation: Hospital Durand, Diaz Velez 5044 (C1405DCS), CABA, Argentina.
authors.forename: Nora
authors.initials: N
authors.lastname: Grañana
authors.affiliation: Centro de Investigaciones del Desarrollo Psiconeurológico (CIDEP), Av. Libertador 6049 (C1428AAG), CABA, Argentina.
authors.forename: Miguel Garcia
authors.initials: MG
authors.lastname: Coto
authors.affiliation: Pediatric Mental Health, Hospital Italiano de Buenos Aires (HIBA), Potosi 4060 (C1181ACH), CABA, Argentina.
authors.forename: Roberto C
authors.initials: RC
authors.lastname: Pallia
authors.affiliation: Instituto de Ciencias Básicas y Medicina Experimental (ICBME), Instituto Universitario del Hospital Italiano de Buenos Aires (HIBA), Potosi 4240 (C1199ACL), CABA, Argentina.
authors.forename: Pablo F
authors.initials: PF
authors.lastname: Argibay
mesh_terms: D001118:Argentina / Q000453:epidemiology; D000067877:Autism Spectrum Disorder / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D021122:Protein Subunits / Q000235:genetics; D011963:Receptors, GABA-A / Q000235:genetics*
chemical_list: C546260:GABRA4 protein, human; C546279:GABRG2 protein, human; D021122:Protein Subunits; D011963:Receptors, GABA-A
keywords: Allelic and genotypic association; Argentinean sample; Epilepsy