使用下一代测序仪对日本抽动秽语综合征患者的SLITRK1进行分析。
Analysis of SLITRK1 in Japanese patients with Tourette syndrome using a next-generation sequencer.
作者信息
Inai Aya, Tochigi Mamoru, Kuwabara Hitoshi, Nishimura Fumichika, Kato Kayoko, Eriguchi Yosuke, Shimada Takafumi, Furukawa Masaomi, Kawamura Yoshiya, Sasaki Tsukasa, Kakiuchi Chihiro, Kasai Kiyoto, Kano Yukiko
机构信息
aDepartment of Child Neuropsychiatry bDepartment of Neuropsychiatry, Graduate School of Medicine cDepartment of Physical and Health Education, Graduate School of Education dDisability Services Office eOffice for Mental Health Support, University of Tokyo fDepartment of Neuropsychiatry, Teikyo University School of Medicine, Tokyo, Japan.
出版信息
Psychiatr Genet. 2015 Dec;25(6):256-8. doi: 10.1097/YPG.0000000000000104.
The SLITRK1 (Slit and Trk-like 1) gene has been suggested to be a promising candidate for Tourette syndrome (TS) since the first report that identified its two rare variants adjacent to the chromosome inversion in a TS child with inv(13) (q31.1;q33.1). A series of replication studies have been carried out, whereas the role of the gene has not been elucidated. The present study aimed to determine whether the two or novel nonsynonymous variants were identified in Japanese TS patients and carry out an association analysis of the gene in a Japanese population. We did not observe the two or any novel nonsynonymous variants in the gene. In contrast, a significant difference was observed in the distributions of the haplotypes consisting of rs9546538, rs9531520, and rs9593835 between the patients and the controls. This result may partially support the implication of SLITRK1 in the pathogenesis of TS, warranting further studies of the gene.
自首次报告在一名患有inv(13)(q31.1;q33.1)的抽动秽语综合征(TS)患儿中发现其与染色体倒位相邻的两个罕见变异以来，SLITRK1(Slit和Trk样1)基因就被认为是抽动秽语综合征的一个有前途的候选基因。已经开展了一系列重复研究，但该基因的作用尚未阐明。本研究旨在确定在日本TS患者中是否存在这两个或新的非同义变异，并在日本人群中对该基因进行关联分析。我们在该基因中未观察到这两个或任何新的非同义变异。相反，在患者和对照组之间，由rs9546538、rs9531520和rs9593835组成的单倍型分布存在显著差异。这一结果可能部分支持SLITRK1在TS发病机制中的作用，需要对该基因进行进一步研究。
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