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	Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
掲載誌名	正式名：Cell reports
巻・号・頁	24(11),2838-2856頁
著者・共著者	Itaru Kushima,Branko Aleksic,Masahiro Nakatochi,Teppei Shimamura,Takashi Okada,Yota Uno,Mako Morikawa,Kanako Ishizuka,Tomoko Shiino,Hiroki Kimura,Yuko Arioka,Akira Yoshimi,Yuto Takasaki,Yanjie Yu,Yukako Nakamura,Maeri Yamamoto,Tetsuya Iidaka,Shuji Iritani,Toshiya Inada,Nanayo Ogawa,Emiko Shishido,Youta Torii,Naoko Kawano,Yutaka Omura,Toru Yoshikawa,Tokio Uchiyama,Toshimichi Yamamoto,Masashi Ikeda,Ryota Hashimoto,Hidenaga Yamamori,Yuka Yasuda,Toshiyuki Someya,Yuichiro Watanabe,Jun Egawa,Ayako Nunokawa,Masanari Itokawa,Makoto Arai,Mitsuhiro Miyashita,Akiko Kobori,Michio Suzuki,Tsutomu Takahashi,Masahide Usami,Masaki Kodaira,Kyota Watanabe,Tsukasa Sasaki,Hitoshi Kuwabara, et al.
発行年月	2018/09
概要	Compelling evidence in Caucasian populations suggests a role for copy-number variations (CNVs) in autism spectrum disorder (ASD) and schizophrenia (SCZ). We analyzed 1,108 ASD cases, 2,458 SCZ cases, and 2,095 controls in a Japanese population and confirmed an increased burden of rare exonic CNVs in both disorders. Clinically significant (or pathogenic) CNVs, including those at 29 loci common to both disorders, were found in about 8% of ASD and SCZ cases, which was significantly higher than in controls. Phenotypic analysis revealed an association between clinically significant CNVs and intellectual disability. Gene set analysis showed significant overlap of biological pathways in both disorders including oxidative stress response, lipid metabolism/modification, and genomic integrity.
DOI	10.1016/j.celrep.2018.08.022
PMID	30208311