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	Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations
掲載誌名	正式名：AUTISM RESEARCH ISSNコード：19393792
出版社	WILEY
巻・号・頁	9(3),340-349頁
著者・共著者	Xiaoxi Liu,Takafumi Shimada,Takeshi Otowa,Yu-Yu Wu,Yoshiya Kawamura,Mamoru Tochigi,Yasuhide Iwata,Tadashi Umekage,Tomoko Toyota,Motoko Maekawa,Yoshimi Iwayama,Katsuaki Suzuki,Chihiro Kakiuchi,Hitoshi Kuwabara,Yukiko Kano,Hisami Nishida,Toshiro Sugiyama,Nobumasa Kato,Chia-Hsiang Chen,Norio Mori,Kazuo Yamada,Takeo Yoshikawa,Kiyoto Kasai,Katsushi Tokunaga,Tsukasa Sasaki,Susan Shur-Fen Gau
発行年月	2016/03
概要	Autism spectrum disorder is a heterogeneous neurodevelopmental disorder with strong genetic basis. To identify common genetic variations conferring the risk of ASD, we performed a two-stage genome-wide association study using ASD family and healthy control samples obtained from East Asian populations. A total of 166 ASD families (n=500) and 642 healthy controls from the Japanese population were used as the discovery cohort. Approximately 900,000 single nucleotide polymorphisms (SNPs) were genotyped using Affymetrix Genome-Wide Human SNP array 6.0 chips. In the replication stage, 205 Japanese ASD cases and 184 healthy controls, as well as 418 Chinese Han trios (n=1,254), were genotyped by TaqMan platform. Case-control analysis, family based association test, and transmission/disequilibrium test (TDT) were then conducted to test the association. In the discovery stage, significant associations were suggested for 14 loci, including 5 known ASD candidate genes: GPC6, JARID2, YTHDC2, CNTN4, and CSMD1. In addition, significant associations were identified for several novel genes with intriguing functions, such as JPH3, PTPRD, CUX1, and RIT2. After a meta-analysis combining the Japanese r
DOI	10.1002/aur.1536
PMID	26314684