Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism.

ABSTRACT:

Background

Autism spectrum conditions (ASC) are associated with deficits in social interaction and communication, alongside repetitive, restricted, and stereotyped behavior. ASC is highly heritable. The gamma-aminobutyric acid (GABA)-ergic system has been associated consistently with atypicalities in autism, in both genetic association and expression studies. A key component of the GABA-ergic system is encoded by the GABRB3 gene, which has been previously implicated both in ASC and in individual differences in empathy.

Methods

In this study, 45 genotyped single nucleotide polymorphisms (SNPs) within GABRB3 were tested for association with Asperger syndrome (AS), and related quantitative traits measured through the following tests: the Empathy Quotient (EQ), the Autism Spectr

SUBMITTER: Warrier V 

PROVIDER: S-EPMC3903107 | biostudies-literature | 2013 Dec

REPOSITORIES: biostudies-literature