Replicative genetic association study between functional polymorphisms in AVPR1A and social behavior scales of autism spectrum disorder in the Korean population

Abbreviations ADI-A1: Failure to use nonverbal behaviors to regulate social interaction; ADIA2: Failure to develop peer relationship; ADI-A3: Lack of shared enjoyment; ADI-A4: Lack of socioemotional reciprocity; ANOVA: Analysis of variance; ASD: Autism spectrum disorder; ASDS: Asperger Syndrome Diagnostic Scale; AVP: Arginine vasopressin; AVPR1A: Arginine vasopressin receptor 1A; Df: Degree of freedom; EMSA: Electrophoretic mobility-shift assay; FBAT: Family-based association test; HBAT: Haplotype family-based association test; IRB: Institutional Review Board; K-ADI-R: Korean version of the Autism Diagnostic Interview-Revised; K-ADOS: Korean version of the Autism Diagnostic Observation Schedule; K-CBCL: Korean Child Behavior Checklist; KEDI-WISC-R: Korean Educational Development Institute-Wechsler Intelligence Scale for Children-Revised; K-SMS: Korean version of the Social Maturity Scale; MAF: Minor allele frequency; PDD-NOS: Pervasive developmental disorder that were not otherwise specified; RLUs: Relative luciferase units; SCQ: Social Communication Questionnaires; SNPs: Single nucleotide polymorphisms; SRS: Social Responsiveness Scale; TDT: Transmission disequilibrium test; VABS: Vineland Adaptive Behavior ; Abstract Background Arginine vasopressin has been shown to affect social and emotional behaviors, which is mediated by the arginine vasopressin receptor (AVPR1A). Genetic polymorphisms in the AVPR1A promoter region have been identified to be associated with susceptibility to social deficits in autism spectrum disorder (ASD). We hypothesize that alleles of polymorphisms in the promoter region of AVPR1A may differentially interact with certain transcriptional factors, which in turn affect quantitative traits, such as sociality, in children with autism. Methods We performed an association study between ASD and polymorphisms in the AVPR1A promoter region in the Korean population using a family-based association test (FBAT). We evaluated the correlation between genotypes and the quantitative traits that are ...