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Background  Arginine vasopressin (AVP) has been hypothesized to play a role in aetiology of autism based on a demonstrated involvement in the regulation of social behaviours. The arginine vasopressin receptor 1A gene ( AVPR1A ) is widely expressed in the brain and is considered to be a key receptor for regulation of social behaviour. Moreover, genetic variation at  AVPR1A  has been reported to be associated with autism. Evidence from non-human mammals implicates variation in the 5'-flanking region of  AVPR1A  in variable gene expression and social behaviour.    Methods  We examined four tagging single nucleotide polymorphisms (SNPs) (rs3803107, rs1042615, rs3741865, rs11174815) and three microsatellites (RS3, RS1 and AVR) at the  AVPR1A  gene for association in an autism cohort from Ireland. Two 5'-flanking region polymorphisms in the human  AVPR1A , RS3 and RS1, were also tested for their effect on relative promoter activity.    Results  The short alleles of RS1 and the SNP rs11174815 show weak association with autism in the Irish population ( P  = 0.036 and  P  = 0.008, respectively). Both RS1 and RS3 showed differences in relative promoter activity by length. Shorter repeat alleles of RS1 and RS3 decreased relative promoter activity in the human neuroblastoma cell line SH-SY5Y.    Conclusions  These aligning results can be interpreted as a functional route for this association, namely that shorter alleles of RS1 lead to decreased  AVPR1A  transcription, which may proffer increased susceptibility to the autism phenotype.

Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism