STX1A and Asperger syndrome: a replication studyReport as inadecuate

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Molecular Autism

, 5:14

First Online: 18 February 2014Received: 11 December 2013Accepted: 05 February 2014


BackgroundAutism 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.

MethodsIn 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.

Resultsrs4717806 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.

ConclusionsThe 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.

KeywordsAsperger syndrome Serotonergic system Single nucleotide polymorphism STX1A AbbreviationsAQAutism spectrum quotient

ASAsperger syndrome

ASCAutism spectrum conditions

CEUEuropean samples of Utah Residents with Northern and Western European Ancestry, GABA, Gamma-aminobutyric acid

HFAHigh-functioning autism

LDLinkage disequilibrium

MAFMinor allele frequency

SNPSingle nucleotide polymorphism

STX1ASyntaxin 1A.

Electronic supplementary materialThe online version of this article doi:10.1186-2040-2392-5-14 contains supplementary material, which is available to authorized users.

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Author: Jaroslava Durdiaková - Varun Warrier - Sharmila Banerjee-Basu - Simon Baron-Cohen - Bhismadev Chakrabarti


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