Copy number variations and risk of schizophrenia: an analysis in a multiplex pedigree and a following case-control study

• Project/Area Number: 23591669
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: Niigata University
• Principal Investigator: KANEKO Naoshi 新潟大学, 医歯(薬)学総合研究科, 非常勤講師 (40515657)
• Project Period (FY): 2011 – 2013
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000); Fiscal Year 2013: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2011: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
• Keywords: 統合失調症 / コピー数多型 / 関連研究 / 多発罹患家系 / 関連解析 / 臨床精神分子遺伝学 / 連鎖解析 / 多発罹患大家系

Research Abstract

Schizophrenia is a severe neuropsychiatric disorder with complex genetic etiology. Recent studies have revealed that rare or large (>500kb or >1Mb) copy number variations (CNVs) associated with schizophrenia. In a previous study, we have conducted a genome-wide CNV screening in a Japanese multiplex pedigree and have found two large (>500kb) CNVs (1q21.2; 505 kb and 16q11.2; 1,180 kb) in this pedigree.
Here, we identified copy numbers of these two CNVs in the multiplex pedigree using real-time polymerase chain reaction method. We found deletions (one copy) of both CNVs in affected and unaffected individuals. Next, we assayed these CNVs in 646 schizophrenia individuals and 674 control individuals. However, there were no significant association between the CNVs and schizophrenia. Also these CNVs are common in our Japanese control samples.

Research Products

• [Journal Article] A rare MIR138-2 gene variation is associated with schizophrenia in a Japanese population (2014)
  • Author(s): Watanabe, Y., Hishimoto, A., Shibuya, M., Nunokawa, A., Kaneko, N., Igeta, Egawa, J., Mouri, K., Sora, I., Someya, T.
  • Journal Title: Psychiatry Research Volume: 215 Issue: 3 Pages: 801-802
  • DOI: 10.1016/j.psychres.2013.12.029
  • Peer Reviewed
• [Journal Article] Interleukin 1 beta gene and risk of schizophrenia : detailed case-control and family-based studies and an updated meta-analysis (2014)
  • Author(s): Shibuya, M., Watanabe, Y., Nunokawa, A., Egawa, J., Kaneko, N., Igeta, H., Someya, T.
  • Journal Title: Human Psychopharmacology : Clinical and Experimental Volume: 29 Issue: 1 Pages: 31-37
  • DOI: 10.1002/hup.2365
  • Peer Reviewed
• [Journal Article] Association analysis of putative cis-acting polymorphisms of interleukin-19 gene with schizophrenia (2014)
  • Author(s): Okazaki, S., Watanabe, Y., Hishimoto, A., Sasada, T., Mouri, K., Shiroiwa, K., Eguchi, N., Ratta-Apha, W., Otsuka, I., Nunokawa, A., Kaneko, N., Shibnuya. M., Someya, T., Shirakawa, O., Sora, I.
  • Journal Title: Progress in Neuro-Psychopharmacology & Biological Psychiatry Volume: 50 Pages: 151-156
  • DOI: 10.1016/j.pnpbp.2013.12.006
  • Peer Reviewed
• [Journal Article] Replication in a Japanese population that a MIR30E gene variation is associated with schizophrenia (2013)
  • Author(s): Watanabe, Y., Iijima, Y., Egawa, J., Nunokawa, A., Kaneko, N., Arinami, T., Ujike, H., Inada, T., Iwata, N., Kunugi, H., Itokawa, M., Sasaki, T., Ozaki, N., Hashimoto, R., Shibuya, M., Igeta, H., Someya, T.
  • Journal Title: Schizophrenia Research Volume: 150 Issue: 2-3 Pages: 596-597
  • DOI: 10.1016/j.schres.2013.08.028
  • Peer Reviewed
• [Journal Article] Resequencing and association analysis of MIR137 with schizophrenia in a Japanese population (2013)
  • Author(s): Egawa, J., Nunokawa, A., Shibuya, M., Watanabe, Y., Kaneko, N., Igeta, H., Someya, T.
  • Journal Title: Psychiatry and Clinical Neurosciences Volume: 67 Issue: 4 Pages: 277-279
  • DOI: 10.1111/pcn.12047
  • Peer Reviewed
• [Journal Article] Oxytocin receptor (OXTR) gene and risk of schizophrenia : Case-control and family-based analyses and meta-analysis in a Japanese population (2012)
  • Author(s): Watanabe, Y., Kaneko, N., Nunokawa, A., Shibuya, M., Egawa, J., Someya, T.
  • Journal Title: Psychiatry and Clinical Neurosciences Volume: 66 Issue: 7 Pages: 622-622
  • DOI: 10.1111/j.1440-1819.2012.02396.x
  • Peer Reviewed
• [Journal Article] Supportive evidence for the association between the Gln2Pro polymorphism in the SIGMAR1 gene and schizophrenia in the Japanese population : A case-control study and an updated meta-analysis (2012)
  • Author(s): Watanabe, Y., Nunokawa, A., Kaneko, N., Shibuya, M., Egawa, J., Someya, T.
  • Journal Title: Schizophrenia Research Volume: 141 Issue: 2-3 Pages: 279-280
  • DOI: 10.1016/j.schres.2012.06.043
  • Peer Reviewed
• [Journal Article] Case-control study and meta-analysis of Ser311Cys polymorphism in the DRD2 gene demonstrate lack of association with risk of for schizophrenia in the Japanese population (2012)
  • Author(s): Watanabe, Y., Nunokawa, A., Kaneko, N., Shibuya, M., Egawa, J., Fukui, N., Someya, T.
  • Journal Title: Genetics and Molecular Research Volume: 11 Issue: 2 Pages: 1142-1145
  • DOI: 10.4238/2012.april.27.13
  • Peer Reviewed
• [Journal Article] A two-stage case-control association study between the tryptophan hydroxylase 2 (TPH2) gene and schizophrenia in a Japanese population (2012)
  • Author(s): Watanabe Y, Egawa J, Iijima Y, Nunokawa A, Kaneko N, Shibuya M, Arinami T, Ujike H, Inada T, Iwata N, Tochigi M, Kunugi H, Itokawa M, Ozaki N, Hashimoto R, Someya T
  • Journal Title: Schizophr Res Volume: 137(1-3) Issue: 1-3 Pages: 264-266
  • DOI: 10.1016/j.schres.2012.01.034
  • Peer Reviewed
• [Presentation] Supportive evidence for the association between the Gln2Pro polymorphism in the sigma non-opioid intracellular receptor 1 gene and schizophrenia in the Japanese population (2013)
  • Author(s): Watanabe Y, Nunokawa A, Kaneko N, Shibuya M, Egawa J, Someya T
  • Organizer: 11th World Congress of Biological Psychiatry
  • Place of Presentation: Kyoto
  • Year and Date: 2013-06-25
• [Presentation] Case-control association study between the tryptophan hydroxylase 2 (TPH2) gene and schizophrenia in a Japanese population (2013)
  • Author(s): Nunokawa A, Watanabe Y, Egawa J, Kaneko N, Shibuya M, Someya T
  • Organizer: 11th World Congress of Biological Psychiatry
  • Place of Presentation: Kyoto
  • Year and Date: 2013-06-24
• [Presentation] オキシトシン受容体遺伝子と統合失調症の関連解析 (2012)
  • Author(s): 井桁裕文, 渡部雄一郎, 金子尚史, 布川綾子, 澁谷雅子, 江川純, 染矢俊幸
  • Organizer: 第34回日本生物学的精神医学会
  • Place of Presentation: 神戸
  • Year and Date: 2012-09-30
• [Presentation] Case-control study and meta-analysis did not confirm an association between DRD2 Ser311Cys and schizophrenia in the Japanese population (2012)
  • Author(s): Watanabe Y, Nunokawa A, Kaneko N, Shibuya M, Egawa J, Fukui N, Igeta H, Someya T
  • Organizer: 11th Biennial Meeting of the Asian Pacific Society for Neurochemistry and 55th Annual Meeting of the Japanese Society for Neurochemistry
  • Place of Presentation: Kobe
• [Presentation] A case-control study and meta-analysis of association between a common copy number variation of the glutathione S-transferase mu 1 (GSTM1) gene and schizophrenia (2012)
  • Author(s): Nunokawa A, Watanabe Y, Kaneko N, Shibuya M, Igeta H, Someya T
  • Organizer: 11th Biennial Meeting of the Asian Pacific Society for Neurochemistry and 55th Annual Meeting of the Japanese Society for Neurochemistry
  • Place of Presentation: Kobe