Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights | Zendy

Itaru Kushima | Zendy; Branko Aleksić | Zendy; Masahiro Nakatochi | Zendy; Teppei Shimamura | Zendy; Takashi Okada | Zendy; Yota Uno | Zendy; Mako Morikawa | Zendy; Kanako Ishizuka | Zendy; Tomoko Shiino | Zendy; Hiroki Kimura | Zendy; Yuko Arioka | Zendy; Akira Yoshimi | Zendy; Yuto Takasaki | Zendy; Yanjie Yu | Zendy; Yukako Nakamura | Zendy; Maeri Yamamoto | Zendy; Tetsuya Iidaka | Zendy; Shuji Iritani | Zendy; Toshiya Inada | Zendy; Nanayo Ogawa | Zendy; Emiko Shishido | Zendy; Youta Torii | Zendy; Naoko Kawano | Zendy; Yutaka Omura | Zendy; Toru Yoshikawa | Zendy; Tokio Uchiyama | Zendy; Toshimichi Yamamoto | Zendy; Masashi Ikeda | Zendy; Ryota Hashimoto | Zendy; Hidenaga Yamamori | Zendy; Yuka Yasuda | Zendy; Toshiyuki Someya | Zendy; Yuichiro Watanabe | Zendy; Jun Egawa | Zendy; Ayako Nunokawa | Zendy; Masanari Itokawa | Zendy; Makoto Arai | Zendy; Mitsuhiro Miyashita | Zendy; Akiko Kobori | Zendy; Michio Suzuki | Zendy; Tsutomu Takahashi | Zendy; Masahide Usami | Zendy; Masaki Kodaira | Zendy; Kyota Watanabe | Zendy; Tsukasa Sasaki | Zendy; Hitoshi Kuwabara | Zendy; Mamoru Tochigi | Zendy; Fumichika Nishimura | Zendy; Hidenori Yamasue | Zendy; Yosuke Eriguchi | Zendy; Seico Benner | Zendy; Masaki Kojima | Zendy; Walid Yassin | Zendy; Toshio Munesue | Zendy; Shigeru Yokoyama | Zendy; Ryo Kimura | Zendy; Yasuko Funabiki | Zendy; Hirotaka Kosaka | Zendy; Makoto Ishitobi | Zendy; Tetsuro Ohmori | Zendy; Shusuke Numata | Zendy; Takeo Yoshikawa | Zendy; Tomoko Toyota | Zendy; Kazuhiro Yamakawa | Zendy; Toshimitsu Suzuki | Zendy; Yushi Inoue | Zendy; Kentaro Nakaoka | Zendy; Yu-ichi Goto | Zendy; Masumi Inagaki | Zendy; Naoki Hashimoto | Zendy; Ichiro Kusumi | Zendy; Shuraku Son | Zendy; Toshiya Murai | Zendy; Tempei Ikegame | Zendy; Naohiro Okada | Zendy; Kiyoto Kasai | Zendy; Shohko Kunimoto | Zendy; Daisuke Mori | Zendy; Nakao Iwata | Zendy; Norio Ozaki | Zendy

Open Access

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights

Author(s) -

Itaru Kushima,

Branko Aleksić,

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,

Mamoru Tochigi,

Fumichika Nishimura,

Hidenori Yamasue,

Yosuke Eriguchi,

Seico Benner,

Masaki Kojima,

Walid Yassin,

Toshio Munesue,

Shigeru Yokoyama,

Ryo Kimura,

Yasuko Funabiki,

Hirotaka Kosaka,

Makoto Ishitobi,

Tetsuro Ohmori,

Shusuke Numata,

Takeo Yoshikawa,

Tomoko Toyota,

Kazuhiro Yamakawa,

Toshimitsu Suzuki,

Yushi Inoue,

Kentaro Nakaoka,

Yu-ichi Goto,

Masumi Inagaki,

Naoki Hashimoto,

Ichiro Kusumi,

Shuraku Son,

Toshiya Murai,

Tempei Ikegame,

Naohiro Okada,

Kiyoto Kasai,

Shohko Kunimoto,

Daisuke Mori,

Nakao Iwata,

Norio Ozaki

Publication year - 2018

Publication title -

cell reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 6.264

H-Index - 154

eISSN - 2639-1856

pISSN - 2211-1247

DOI - 10.1016/j.celrep.2018.08.022

Subject(s) - copy number variation , schizophrenia (object oriented programming) , autism spectrum disorder , etiology , autism , variation (astronomy) , biology , computational biology , schizophrenia spectrum , genetics , evolutionary biology , neuroscience , psychology , psychiatry , psychosis , genome , gene , physics , astrophysics

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. Finally, based on bioinformatics analysis, we identified multiple disease-relevant genes in eight well-known ASD/SCZ-associated CNV loci (e.g., 22q11.2, 3q29). Our findings suggest an etiological overlap of ASD and SCZ and provide biological insights into these disorders.

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