クワバラ　ヒトシ   KUWABARA Hitoshi   桑原　斉    所属   埼玉医科大学  医学部 神経精神科・心療内科    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	Analysis of SLITRK1 in Japanese patients with Tourette syndrome using a next-generation sequencer
掲載誌名	正式名：PSYCHIATRIC GENETICS ISSNコード：09558829
出版社	LIPPINCOTT WILLIAMS&WILKINS
巻・号・頁	25(6),256-258頁
著者・共著者	Aya Inai,Mamoru Tochigi,Hitoshi Kuwabara,Fumichika Nishimura,Kayoko Kato,Yosuke Eriguchi,Takafumi Shimada,Masaomi Furukawa,Yoshiya Kawamura,Tsukasa Sasaki,Chihiro Kakiuchi,Kiyoto Kasai,Yukiko Kano
発行年月	2015/12
概要	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. Copyright (C) 2015 Wolters Kluwer Health, Inc. All rights reserved.
DOI	10.1097/YPG.0000000000000104
PMID	26317387