Analysis of rare copy number variations in schizophrenia

• Project/Area Number: 26893108
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Psychiatric science
• Research Institution: Nagoya University
• Principal Investigator: KUSHIMA Itaru 名古屋大学, 高等研究院(医), 特任助教 (00732645)
• Project Period (FY): 2014-08-29 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2014: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
• Keywords: CNV / 統合失調症 / ゲノムコピー数変異 / シナプス

Outline of Final Research Achievements

Rare copy number variations (CNVs) are known to be involved in risk for schizophrenia (SCZ). Phenotypes of patients with 4 SCZ-associated CNVs were examined in detail, and high rate of comorbidity of neurodevelopmental disorders and/or congenital diseases was observed. In trio analysis, deletions at 3q29 and 22q11.21 were found to be de novo, providing additional evidence for their clinical significance. In bioinformatics analysis of CNV data, synaptic dysfunction was identified as an underlying mechanism for SCZ.

Research Products

• [Journal Article] Identification of Rare, Single-Nucleotide Mutations in NDE1 and Their Contributions to Schizophrenia Susceptibility (2015)
  • Author(s): Kimura, H. Tsuboi, D. Wang, C. Kushima, I. Koide, T. Ikeda, M. Iwayama, Y. Toyota, T. Yamamoto, N. Kunimoto, S. Nakamura, Y. Yoshimi, A. Banno, M. Xing, J. Takasaki, Y. Yoshida, M. Aleksic, B. Uno, Y. Okada, T. Iidaka, T. Inada, T. Suzuki, M. Ujike, H. Kunugi, H. Kato, T. Yoshikawa, T. Iwata, N. Kaibuchi, K. Ozaki, N.
  • Journal Title: Schizophrenia bulletin Volume: 印刷中
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Replication of enhanced carbonyl stress in a subpopulation of schizophrenia (2014)
  • Author(s): Miyashita M, Arai M, Yuzawa H, Niizato K, Oshima K, Kushima I, Hashimoto R, Fukumoto M, Koike S, Toyota T, Ujike H, Arinami T, Kasai K, Takeda M, Ozaki N, Okazaki Y, Yoshikawa T, Amano N, Miyata T, Itokawa M
  • Journal Title: Psychiatry Clin Neurosci Volume: 68 Issue: 1 Pages: 83-84
  • DOI: 10.1111/pcn.12081
  • Peer Reviewed
• [Journal Article] Resequencing and Association Analysis of PTPRA, a Possible Susceptibility Gene for Schizophrenia and Autism Spectrum Disorders (2014)
  • Author(s): Xing J, Wang C, Kimura H, Takasaki Y, Kunimoto S, Yoshimi A, Nakamura Y, Koide T, Banno M, Kushima I, Uno Y, Okada T, Aleksic B, Ikeda M, Iwata N, Ozaki N.
  • Journal Title: PLoS One Volume: 9 Issue: 1-3 Pages: 149-156
  • DOI: 10.1016/j.schres.2014.04.032
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Resequencing and association analysis of PTPRA, a possible susceptibility gene for schizophrenia and autism spectrum disorders (2014)
  • Author(s): Xing J, Wang C, Kimura H, Takasaki Y, Kunimoto S, Yoshimi A, Nakamura Y, Koide T, Banno M, Kushima I, Uno Y, Okada T, Aleksic B, Ikeda M, Iwata N, Ozaki N
  • Journal Title: PLoS One Volume: 9(11) Issue: 11 Pages: e112531-e112531
  • DOI: 10.1371/journal.pone.0112531
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Presentation] 統合失調症のゲノムコピー数変異（CNV）解析 (2015)
  • Author(s): 久島周、Branko Aleksic、椎野智子、吉見陽、國本正子、森大輔、大矢友子、有岡祐子、前田拓志、木村大樹、Chenyao Wang、Jingrui Xing、高崎 悠登、石塚佳奈子、尾崎紀夫
  • Organizer: 第10回日本統合失調症学会
  • Place of Presentation: 都市センターホテル（東京都千代田区）
  • Year and Date: 2015-03-27
  • Invited