Journal Article


Louise Gallagher
Richard Jl Anney
Michael Gill
Lynne E Cochrane
Matthew J Hill
Katherine E Tansey



arginine vasopressin 5 flanking region genetic variation single nucleotide polymorphisms gene expression cell line social behaviour irish population

Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for autism. (2010)

Abstract 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. 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. 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. 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.
Collections Ireland -> Trinity College Dublin -> PubMed

Full list of authors on original publication

Louise Gallagher, Richard Jl Anney, Michael Gill, Lynne E Cochrane, Matthew J Hill, Katherine E Tansey

Experts in our system

Louise Gallagher
Trinity College Dublin
Total Publications: 55
Richard Anney
Trinity College Dublin
Total Publications: 38
Michael Gill
Trinity College Dublin
Total Publications: 260
Matthew Hill
Trinity College Dublin
Total Publications: 10