次世代シーケンサーを用いた統合失調症多発家系の遺伝子解析と病因・病態解明

2016 Fiscal Year Research-status Report

• Project/Area Number: 15K09804
• Research Institution: Nagoya University
• Principal Investigator: Aleksic Branko 名古屋大学, 医学系研究科(国際), 特任准教授 (60547511)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: whole exome sequecing / Schizophrenia

Outline of Annual Research Achievements

We have finished exome sequencing on all families planned to be included in this study. We have established bioinformatic pipeline for NGS data analysis both in terms or required hardware and software. W have two high performance LINUX based workstation that we are using for data analysis. We have set up industry standard software for data analysis including BWA, PICARD, GATK and ANNOVAR. We applied quality controls filters and in-silico prediction analysis. Using that pipeline we have identified reasonable number of candidate variants. Furthermore we have analysed different transmission patterns of the variants focusing on de-novo or co-segregatered variants.

Current Status of Research Progress

2: Research has progressed on the whole more than it was originally planned.

Reason

Project is on schedule, we had not encountered major problems.

Strategy for Future Research Activity

Validation of the detected variants using standard capillary sequencer.

Research Products

• [Journal Article] Mutation screening of GRIN2B in schizophrenia and autism spectrum disorder in a Japanese population (2016)
  • Author(s): Takasaki Y, Koide T, Wang C, Kimura H, Xing J, Kushima I, Ishizuka K, Mori D, Sekiguchi M, Ikeda M, Aizawa M, Tsurumaru N, Iwayama Y, Yoshimi A, Arioka Y, Yoshida M, Noma H, Oya-Ito T, Nakamura Y, Kunimoto S, Aleksic B, Uno Y, Okada T, Ujike H, Egawa J, Kuwabara H, Someya T, Yoshikawa T, Iwata N, Ozaki N.
  • Journal Title: Sci Rep Volume: 6 Pages: 33311
  • DOI: 10.1038/srep33311
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Resequencing and Association Analysis of Six PSD-95-Related Genes as Possible Susceptibility Genes for Schizophrenia and Autism Spectrum Disorders. (2016)
  • Author(s): Xing J, Kimura H, Wang C, Ishizuka K, Kushima I, Arioka Y, Yoshimi A, Nakamura Y, Shiino T, Oya-Ito T, Takasaki Y, Uno Y, Okada T, Iidaka T, Aleksic B, Mori D, Ozaki N.
  • Journal Title: Sci Rep Volume: 6 Pages: 27491
  • DOI: 10.1038/srep27491
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Serbian Language version of the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up: Cross-Cultural Adaptation and Assessment of Reliability. (2016)
  • Author(s): Carakovac M, Jovanovic J, Kalanj M, Rudic N, Aleksic-Hil O, Aleksic B, Villalobos IB, Kasuya H, Ozaki N, Lecic-Tosevski D, Pejovic-Milovancevic M.
  • Journal Title: Sci Rep Volume: 6 Pages: 38222
  • DOI: 10.1038/srep38222
  • Peer Reviewed / Open Access / Int'l Joint Research / Acknowledgement Compliant