title: STX1A and Asperger syndrome: a replication study.
abstract: BACKGROUND
  Autism spectrum conditions (ASC) are a group of conditions characterized by difficulties in communication and social interaction, alongside unusually narrow interests and repetitive, stereotyped behaviour. Genetic association and expression studies have suggested an important role for the GABAergic circuits in ASC. Syntaxin 1A (STX1A) encodes a protein involved in regulation of serotonergic and GABAergic systems and its expression is altered in autism.
  
  
  METHODS
  In this study, the association between three single nucleotide polymorphisms (SNPs) (rs4717806, rs941298 and rs6951030) in STX1A gene and Asperger syndrome (AS) were tested in 650 controls and 479 individuals with AS, all of Caucasian ancestry.
  
  
  RESULTS
  rs4717806 (P = 0.00334) and rs941298 (P = 0.01741) showed a significant association with AS, replicating previous results. Both SNPs putatively alter transcription factor binding sites both directly and through other variants in high linkage disequilibrium.
  
  
  CONCLUSIONS
  The current study confirms the role of STX1A as an important candidate gene in ASC. The exact molecular mechanisms through which STX1A contributes to the etiology remain to be elucidated.
authors.forename: Jaroslava
authors.initials: J
authors.lastname: Durdiaková
authors.forename: Varun
authors.initials: V
authors.lastname: Warrier
authors.forename: Sharmila
authors.initials: S
authors.lastname: Banerjee-Basu
authors.affiliation: Autism Research Centre, Department of Psychiatry, University of Cambridge, 18b Trumpington Road, Cambridge CB2 8AH, UK. sb205@cam.ac.uk.
authors.forename: Simon
authors.initials: S
authors.lastname: Baron-Cohen
authors.forename: Bhismadev
authors.initials: B
authors.lastname: Chakrabarti