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 年度 実施状況報告書

• 研究課題/領域番号: 15K09804
• 研究機関: 名古屋大学
• 研究代表者: Aleksic Branko 名古屋大学, 医学系研究科(国際), 特任准教授 (60547511)
• 研究期間 (年度): 2015-04-01 – 2018-03-31
• キーワード: whole exome sequecing / Schizophrenia

研究実績の概要

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.

現在までの達成度 (区分)

2: おおむね順調に進展している

理由

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

今後の研究の推進方策

Validation of the detected variants using standard capillary sequencer.

研究成果

• [雑誌論文] Mutation screening of GRIN2B in schizophrenia and autism spectrum disorder in a Japanese population (2016)
  • 著者名/発表者名: 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.
  • 雑誌名: Sci Rep 巻: 6 ページ: 33311
  • DOI: 10.1038/srep33311
  • 査読あり / オープンアクセス / 謝辞記載あり
• [雑誌論文] Resequencing and Association Analysis of Six PSD-95-Related Genes as Possible Susceptibility Genes for Schizophrenia and Autism Spectrum Disorders. (2016)
  • 著者名/発表者名: 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.
  • 雑誌名: Sci Rep 巻: 6 ページ: 27491
  • DOI: 10.1038/srep27491
  • 査読あり / オープンアクセス / 謝辞記載あり
• [雑誌論文] Serbian Language version of the Modified Checklist for Autism in Toddlers, Revised, with Follow-Up: Cross-Cultural Adaptation and Assessment of Reliability. (2016)
  • 著者名/発表者名: 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.
  • 雑誌名: Sci Rep 巻: 6 ページ: 38222
  • DOI: 10.1038/srep38222
  • 査読あり / オープンアクセス / 国際共著 / 謝辞記載あり