• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Whole-exome sequencing in three families with affected siblings

Research Project

Project/Area Number 25461724
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Psychiatric science
Research InstitutionNiigata University

Principal Investigator

Watanabe Yuichiro  新潟大学, 医歯学総合病院, 特任教授 (90401744)

Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2014: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2013: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000)
Keywords統合失調症
Outline of Final Research Achievements

To investigate the role of rare inherited variations, we performed whole-exome sequencing (WES) in three families, each with two affected siblings. We also performed a three-stage follow-up case-control study in a Japanese population with a total of 2617 patients and 2396 controls. WES identified 15 rare truncating variations that were variously present in the two affected siblings in each family. In the follow-up study, four variations (NWD1 W169X, LCORL R7fsX53, CAMK2B L497fsX497, and C9orf89 Q102X) had a higher mutant allele frequency in patients compared with controls, although these associations were not significant in the combined population, which comprised the first-, second- and third-stage populations. These results do not support a contribution of the rare truncating variations identified in the three families to the genetic etiology of schizophrenia.

Report

(4 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (19 results)

All 2016 2014 2013

All Journal Article (12 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 10 results,  Open Access: 1 results,  Acknowledgement Compliant: 1 results) Presentation (7 results)

  • [Journal Article] Rare truncating variations and risk of schizophrenia: Whole-exome sequencing in three families with affected siblings and a three-stage follow-up study in a Japanese population.2016

    • Author(s)
      Watanabe Y, Nunokawa A, Shibuya M, Ikeda M, Hishimoto A, Kondo K, Egawa J, Kaneko N, Muratake T, Saito T, Okazaki S, Shimasaki A, Igeta H, Inoue E, Hoya S, Sugai T, Sora I, Iwata N, Someya T
    • Journal Title

      Psychiatry Research

      Volume: 235 Pages: 13-18

    • DOI

      10.1016/j.psychres.2015.12.011

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] 統合失調症の分子病態2014

    • Author(s)
      渡部雄一郎
    • Journal Title

      新潟医学会雑誌

      Volume: 128 Pages: 7-12

    • NAID

      120006758880

    • Related Report
      2014 Research-status Report
  • [Journal Article] 統合失調症の分子病態解明を目指して2014

    • Author(s)
      渡部雄一郎
    • Journal Title

      新潟県医師会報

      Volume: 776 Pages: 2-7

    • Related Report
      2014 Research-status Report
  • [Journal Article] A rare MIR138-2 gene variation is associated with schizophrenia in a Japanese population2014

    • 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

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] The cardiomyopathy-associated 5 (CMYA5) gene and risk of schizophrenia: Meta-analysis of rs3828611 and rs4704591 in East Asian populations2014

    • Author(s)
      Watanabe, Y., Shibuya, M., Someya, T.
    • Journal Title

      Asian Journal of Psychiatry

      Volume: 7 Pages: 95-96

    • DOI

      10.1016/j.ajp.2013.10.013

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Interleukin 1 beta gene and risk of schizophrenia : detailed case-control and family-based studies and an updated meta-analysis2014

    • 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

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] A missense mutation in the ITGA8 gene, a cell adhesion molecule gene, is associated with schizophrenia in Japanese female patients.2013

    • Author(s)
      Supriyanto I, Watanabe Y, Mouri K, Shiroiwa K, Ratta-Apha W, Yoshida M, Tamiya G, Sasada T, Eguchi N, Okazaki K, Shirakawa O, Someya T, Hishimoto A.
    • Journal Title

      Prog Neuropsychopharmacol Biol Psychiatry

      Volume: 40 Pages: 347-52

    • DOI

      10.1016/j.pnpbp.2012.11.002

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] An evaluation of association between a novel hippocampal biology related SNP (rs7294919) and schizophrenia2013

    • Author(s)
      Liu, J., Numata, S., Ikeda, M., Watanabe, Y., Zheng, X., Luo, X., Kinoshita, M., Nunokawa, A., Someya, T., Ohmori, T., Bei, J., Chong, S., Lee, J., Li, Z., Liu, J., Iwata, N., Shi, Y., Li, M., Su, B
    • Journal Title

      PLoS One

      Volume: 8 Issue: 11 Pages: e80696-e80696

    • DOI

      10.1371/journal.pone.0080696

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Replication in a Japanese population that a MIR30E gene variation is associated with schizophrenia2013

    • 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

    • DOI

      10.1016/j.schres.2013.08.028

    • URL

      https://pure.teikyo.jp/en/publications/7f7bdc70-c650-44f4-a718-fb423376294f

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] An association analysis of the cardiomyopathy-associated 5 (CMYA5) gene with schizophrenia in a Japanese population2013

    • Author(s)
      Furukawa M, Tochigi M, Otowa T, Arinami T, Inada T, Ujike H, Watanabe Y, Iwata N, Itokawa M, Kunugi H, Hashimoto R, Ozaki N, Kakiuchi C, Kasai K, Sasaki T
    • Journal Title

      Psychiatr Genet.

      Volume: 23 Issue: 4 Pages: 179

    • DOI

      10.1097/ypg.0b013e328360c8be

    • URL

      https://pure.teikyo.jp/en/publications/f6eb051c-0fe8-4688-8092-193e15735107

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Genetic evidence for association between NOTCH4 and schizophrenia supported by a GWAS follow-up study in a Japanese population2013

    • Author(s)
      Ikeda M, Aleksic B, Yamada K, Iwayama-Shigeno Y, Matsuo K, Numata S, Watanabe Y, Ohnuma T, Kaneko T, Fukuo Y, Okochi T, Toyota T, Hattori E, Shimodera S, Itakura M, Nunokawa A, Shibata N, Tanaka H, Yoneda H, Arai H, Someya T, Ohmori T, Yoshikawa T, Ozaki N, Iwata N
    • Journal Title

      Mol Psychiatry

      Volume: 18(6) Issue: 6 Pages: 636-638

    • DOI

      10.1038/mp.2012.74

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Resequencing and association analysis of MIR137 with schizophrenia in a Japanese population2013

    • 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

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] マイクロRNA30E遺伝子の稀な変異と統合失調症との関連2014

    • Author(s)
      江川純, 飯嶋良味, 渡部雄一郎, 布川綾子, 金子尚史, 有波忠雄, 氏家寛, 稲田俊也, 岩田仲生, 功刀浩, 糸川昌成, 佐々木司, 尾崎紀夫, 橋本亮太, 澁谷雅子, 井桁裕文, 染矢俊幸
    • Organizer
      第36回日本生物学的精神医学会
    • Place of Presentation
      奈良県文化会館(奈良市)
    • Year and Date
      2014-10-01
    • Related Report
      2014 Research-status Report
  • [Presentation] マイクロRNA138-2遺伝子の稀な変異と統合失調症との関連2014

    • Author(s)
      渡部雄一郎, 菱本明豊, 澁谷雅子,布川綾子, 金子尚史, 井桁裕文, 江川純, 毛利健太朗, 曽良一郎, 染矢俊幸
    • Organizer
      第36回日本生物学的精神医学会
    • Place of Presentation
      奈良県文化会館(奈良市)
    • Year and Date
      2014-09-30
    • Related Report
      2014 Research-status Report
  • [Presentation] マイクロRNA137遺伝子のリシーケンスおよび統合失調症との関連解析2014

    • Author(s)
      井上絵美子, 江川純, 布川綾子, 澁谷雅子, 渡部雄一郎, 金子尚史, 井桁裕文, 染矢俊幸
    • Organizer
      第36回日本生物学的精神医学会
    • Place of Presentation
      奈良県文化会館(奈良市)
    • Year and Date
      2014-09-30
    • Related Report
      2014 Research-status Report
  • [Presentation] TPH2遺伝子と日本人統合失調症との2段階関連解析2014

    • Author(s)
      布川綾子, 渡部雄一郎, 飯嶋良味, 江川純, 金子尚史, 澁谷雅子, 有波忠雄, 氏家寛, 稲田俊也, 岩田仲生, 栃木衛, 功刀浩, 糸川昌成, 尾崎紀夫, 橋本亮太, 染矢俊幸
    • Organizer
      第36回日本生物学的精神医学会
    • Place of Presentation
      奈良県文化会館(奈良市)
    • Year and Date
      2014-09-29
    • Related Report
      2014 Research-status Report
  • [Presentation] Case-control association study between the tryptophan hydroxylase 2 (TPH2) gene and schizophrenia in a Japanese population2013

    • Author(s)
      Nunokawa A, Watanabe Y, Egawa J, Kaneko N, Shibuya M, Someya T
    • Organizer
      11th World Congress of Biological Psychiatry
    • Place of Presentation
      京都国際会館(京都)
    • Related Report
      2013 Research-status Report
  • [Presentation] Measurement and comparison of serum neuregulin 1 immunoreactivity in control subjects and patients with schizophrenia: an influence of its genetic polymorphism2013

    • Author(s)
      Shibuya M, Komi E, Wang R, Kato T, Watanabe Y, Sakai M, Ozaki M, Someya T, Nawa H
    • Organizer
      11th World Congress of Biological Psychiatry
    • Place of Presentation
      京都国際会館(京都)
    • Related Report
      2013 Research-status Report
  • [Presentation] Supportive evidence for the association between the Gln2Pro polymorphism in the sigma non-opioid intracellular receptor 1 gene and schizophrenia in the Japanese population2013

    • Author(s)
      Watanabe Y, Nunokawa A, Kaneko N, Shibuya M, Egawa J, Someya T
    • Organizer
      11th World Congress of Biological Psychiatry
    • Place of Presentation
      京都国際会館(京都)
    • Related Report
      2013 Research-status Report

URL: 

Published: 2014-07-25   Modified: 2019-07-29  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi