| Literature DB >> 30208311 |
Itaru Kushima1, Branko Aleksic2, Masahiro Nakatochi3, Teppei Shimamura4, Takashi Okada2, Yota Uno5, Mako Morikawa2, Kanako Ishizuka2, Tomoko Shiino6, Hiroki Kimura2, Yuko Arioka7, Akira Yoshimi8, Yuto Takasaki2, Yanjie Yu2, Yukako Nakamura2, Maeri Yamamoto2, Tetsuya Iidaka9, Shuji Iritani2, Toshiya Inada10, Nanayo Ogawa2, Emiko Shishido2, Youta Torii11, Naoko Kawano12, Yutaka Omura13, Toru Yoshikawa14, Tokio Uchiyama15, Toshimichi Yamamoto16, Masashi Ikeda17, Ryota Hashimoto18, Hidenaga Yamamori19, Yuka Yasuda19, Toshiyuki Someya20, Yuichiro Watanabe20, Jun Egawa20, Ayako Nunokawa20, Masanari Itokawa21, Makoto Arai22, Mitsuhiro Miyashita22, Akiko Kobori22, Michio Suzuki23, Tsutomu Takahashi23, Masahide Usami24, Masaki Kodaira24, Kyota Watanabe24, Tsukasa Sasaki25, Hitoshi Kuwabara26, Mamoru Tochigi27, Fumichika Nishimura28, Hidenori Yamasue29, Yosuke Eriguchi30, Seico Benner30, Masaki Kojima30, Walid Yassin30, Toshio Munesue31, Shigeru Yokoyama31, Ryo Kimura32, Yasuko Funabiki33, Hirotaka Kosaka34, Makoto Ishitobi35, Tetsuro Ohmori36, Shusuke Numata36, Takeo Yoshikawa37, Tomoko Toyota37, Kazuhiro Yamakawa38, Toshimitsu Suzuki38, Yushi Inoue39, Kentaro Nakaoka13, Yu-Ichi Goto40, Masumi Inagaki41, Naoki Hashimoto42, Ichiro Kusumi42, Shuraku Son43, Toshiya Murai43, Tempei Ikegame28, Naohiro Okada28, Kiyoto Kasai44, Shohko Kunimoto2, Daisuke Mori45, Nakao Iwata17, Norio Ozaki46.
Abstract
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.Entities:
Keywords: Japanese population; array comparative genomic hybridization; autism spectrum disorder; copy-number variation; gene ontology; genetic overlap; genome integrity; lipid metabolism; oxidative stress response; schizophrenia
Mesh：
Year: 2018 PMID： 30208311 DOI： 10.1016/j.celrep.2018.08.022
Source DB: PubMed Journal: Cell Rep Impact factor: 9.423