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

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 Irel

SUBMITTER: Tansey KE 

PROVIDER: S-EPMC3080300 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature