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

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

Progress in neuro-psychopharmacology & biological psychiatry (2010-12-02)

Kazuhiko Nakamura, 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

PMID21118708

摘要

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.