Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for Autism.
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2011Citation:
Tansey K, Hill M, Cochrane L, Gill M, Anney R, Gallagher L, Functionality of promoter microsatellites of arginine vasopressin receptor 1A (AVPR1A): implications for Autism., Molecular Autism, 2, 3, 2011Download Item:
Abstract:
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.
Author's Homepage:
http://people.tcd.ie/lgallaghhttp://people.tcd.ie/anneyr
http://people.tcd.ie/mgill
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Molecular Autism;2;
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Neuroscience, AutismMetadata
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