Literature DB >> 21118708

Replication study of Japanese cohorts supports the role of STX1A in autism susceptibility.

Kazuhiko Nakamura1, Yasuhide Iwata, Ayyappan Anitha, Taishi Miyachi, Tomoko Toyota, Satoru Yamada, Masatsugu Tsujii, Kenji J Tsuchiya, Yoshimi Iwayama, Kazuo Yamada, Eiji Hattori, Hideo Matsuzaki, Kaori Matsumoto, Katsuaki Suzuki, Shiro Suda, Kiyokazu Takebayashi, Nori Takei, Hironobu Ichikawa, Toshiro Sugiyama, Takeo Yoshikawa, Norio Mori.   

Abstract

Autism is a pervasive developmental disorder diagnosed in early childhood. Abnormalities of serotonergic neurotransmission have been reported in autism. Serotonin transporter (5-HTT), which modulates serotonin levels, is a major therapeutic target in autism. Therefore, factors that regulate 5-HTT expression might be implicated in autism. One candidate 5-HTT-regulatory protein is the presynaptic protein, syntaxin 1A (STX1A). We examined the association of STX1A with autism in a trio association study using DNA samples from Japanese trios with autistic probands. In TDT analysis, rs69510130 (p=0.027) showed nominal associations with autism; modest haplotype association was also observed. We further compared STX1A mRNA expression between the autistic and control groups in the postmortem brain. In the anterior cingulate gyrus region, STX1A expression in the autism group was found to be significantly lower than that of the control group. Thus, we suggest a possible role of STX1A in the pathogenesis of autism.
Copyright © 2010 Elsevier Inc. All rights reserved.

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Year:  2010        PMID: 21118708     DOI: 10.1016/j.pnpbp.2010.11.033

Source DB:  PubMed          Journal:  Prog Neuropsychopharmacol Biol Psychiatry        ISSN: 0278-5846            Impact factor:   5.067


  13 in total

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Review 4.  Vesicle trafficking with snares: a perspective for autism.

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Journal:  Mol Biol Rep       Date:  2022-10-05       Impact factor: 2.742

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Authors:  Michael A Thomas; Rebecca D Klaper
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6.  Rare autism-associated variants implicate syntaxin 1 (STX1 R26Q) phosphorylation and the dopamine transporter (hDAT R51W) in dopamine neurotransmission and behaviors.

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Journal:  EBioMedicine       Date:  2015-02       Impact factor: 8.143

7.  N-ethylmaleimide-sensitive factor interacts with the serotonin transporter and modulates its trafficking: implications for pathophysiology in autism.

Authors:  Keiko Iwata; Hideo Matsuzaki; Taro Tachibana; Koji Ohno; Saori Yoshimura; Hironori Takamura; Kohei Yamada; Shinsuke Matsuzaki; Kazuhiko Nakamura; Kenji J Tsuchiya; Kaori Matsumoto; Masatsugu Tsujii; Toshirou Sugiyama; Taiichi Katayama; Norio Mori
Journal:  Mol Autism       Date:  2014-05-10       Impact factor: 7.509

8.  Construction and analysis of the protein-protein interaction networks based on gene expression profiles of Parkinson's disease.

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Authors:  Nanako Hamada; Ikuko Iwamoto; Hidenori Tabata; Koh-Ichi Nagata
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10.  STX1A and Asperger syndrome: a replication study.

Authors:  Jaroslava Durdiaková; Varun Warrier; Sharmila Banerjee-Basu; Simon Baron-Cohen; Bhismadev Chakrabarti
Journal:  Mol Autism       Date:  2014-02-18       Impact factor: 7.509

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