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Additional genetic defects outside commonly deleted region in 22q11.2 deletion with psychosis; a prospect for identifying novel schizophrenia candidate genes

Research Project

Project/Area Number 26860954
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Psychiatric science
Research InstitutionInstitute of Physical and Chemical Research

Principal Investigator

SHABEESH BALAN  国立研究開発法人理化学研究所, 脳科学総合研究センター, 研究員 (70721588)

Project Period (FY) 2014-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords22q11.2 deletion / Schizophrenia / SNX31 / CLV2 / EFCAB11 / KAT8 / APOH / 脳神経疾患 / ゲノム / 遺伝子 / 染色体異常
Outline of Final Research Achievements

22q11.2 deletion is a prominent risk factor for developing schizophrenia, with varying penetrance. This suggests polygenic mechanisms requiring additional genomic variants for disease manifestation. We aimed to decipher the role of genetic defects outside the 22q11.2 region in increasing the risk for schizophrenia. We did whole exome sequencing on two subjects with 22q11.2 deletions; one with schizophrenia and other psychosis free. We identified 5 heterozygous variants in genes (3 frameshift: KAT8, APOH and SNX31 and 2 nonsense variants: EFCAB11 and CLVS2) outside the deletion region in 22q11.2 deletion patient with schizophrenia. Although these genes were relevant for neuronal function, interestingly, none of them were reported to be associated with any neurological/psychiatric phenotypes. These results will help in elucidating the variant dose and complex genetic architecture in schizophrenia. Role of these genes in manifestation of psychiatric phenotypes warrant future examination.

Report

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

    (3 results)

All 2015 2014

All Journal Article (3 results) (of which Peer Reviewed: 3 results,  Open Access: 3 results,  Acknowledgement Compliant: 1 results)

  • [Journal Article] Sequencing and expression analyses of the synaptic lipid raft adapter gene PAG1 in schizophrenia.2015

    • Author(s)
      Balan S, Iwayama Y, Yamada K, Toyota T, Ohnishi T, Toyoshima M, Shimamoto C, Ide M, Iwata Y, Suzuki K, Kikuchi M, Hashimoto T, Kanahara N, Yoshikawa T, Maekawa M.
    • Journal Title

      J Neural Transm

      Volume: 122 Issue: 3 Pages: 477-485

    • DOI

      10.1007/s00702-014-1269-0

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genetic analysis of the glyoxalase system in schizophrenia.2015

    • Author(s)
      Bangel FN, Yamada K, Arai M, Iwayama Y, Balan S, Toyota T, Iwata Y, Suzuki K, Kikuchi M, Hashimoto T, Kanahara N, Mori N, Itokawa M, Stork O, Yoshikawa T
    • Journal Title

      Prog Neuropsychopharmacol Biol Psychiatry

      Volume: 59 Pages: 105-110

    • DOI

      10.1016/j.pnpbp.2015.01.014

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] 22q11.2 deletion carriers and schizophrenia-associated novel variants2014

    • Author(s)
      Balan S, Iwayama Y, Toyota T, Toyoshima M, Maekawa M, Yoshikawa T
    • Journal Title

      Br J Psychiatry

      Volume: 204 Issue: 5 Pages: 398-399

    • DOI

      10.1192/bjp.bp.113.138420

    • Related Report
      2015 Annual Research Report 2014 Research-status Report
    • Peer Reviewed / Open Access

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Published: 2014-04-04   Modified: 2017-05-10  

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