STX1A and Asperger syndrome: a replication study

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• 作者：Jaroslava Durdiaková (8)
  Varun Warrier (8)
  Sharmila Banerjee-Basu (11)
  Simon Baron-Cohen (8) (9)
  Bhismadev Chakrabarti (10) (8)
  
• 关键词：Asperger syndrome ; Serotonergic system ; Single nucleotide polymorphism ; STX1A
• 刊名：Molecular Autism
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：5
• 期：1
• 全文大小：181 KB
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• 作者单位：Jaroslava Durdiaková (8)
  Varun Warrier (8)
  Sharmila Banerjee-Basu (11)
  Simon Baron-Cohen (8) (9)
  Bhismadev Chakrabarti (10) (8)
  
  8. Autism Research Centre, Department of Psychiatry, University of Cambridge, 18b Trumpington Road, Cambridge, CB2 8AH, UK
  11. Mindspec Inc, 9656 Blake Ln, Fairfax, VA, 22031, USA
  9. CLASS Clinic, Cambridgeshire and Peterborough NHS Foundation Trust (CPFT), Fulbourn, Cambridge, CB21 5EF, UK
  10. Centre for Integrative Neuroscience and Neurodynamics, School of Psychology and Clinical Language Sciences, University of Reading, Reading, RG6 6AL, UK
  
• ISSN：2040-2392

文摘

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--.00334) and rs941298 (P--.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.