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

2018 年度 実施状況報告書

• 研究課題/領域番号: 18K07554
• 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): 2018-04-01 – 2021-03-31
• キーワード: Genome / Sequencing / Psychiatry

研究実績の概要

We have selected samples for sequencing, set up instrumentation and obtained necessary reagents.Samples are selected from our department. We targeted patients where we have access so we can obtain additional clinical information if needed.
We have also did some trail runs and have obtained good and reproducible results. We have established reasonable bioinformatic pipeline for next generation sequencing data analysis both in terms or required hardware and software. We have two high performance LINUX based workstation computers that we are using for data analysis. We have set up industry standard software for data analysis including well known and widely used field standard BWA, PICARD, GATK and ANNOVAR. These software is free of charge and required some programming knowledge to set up.
We applied required quality controls filters and in-silico prediction analysis. The initial analyses yielded good preliminary results. We were able to obtain reasonably good speed and quality. We hope to start analysis of our samples soon. DNA was extracted form peripheral blood and we have achieved good quality measured by nanodrop so we do not expect any problem when we start actual next generation sequencing.

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

Preform sequencing on the collected samples.

次年度使用額が生じた理由

We allocated extra budget from this fiscal year to next fiscal year in case we encounter some reagent loss in the initial stages of the wet lab work. we are planning to use that buget for buying additional reagents.

研究成果

• [雑誌論文] Assessment of a glyoxalase I frameshift variant, p.P122fs, in Japanese patients with schizophrenia. (2018)
  • 著者名/発表者名: Ishizuka K, Kimura H, Kushima I, Inada T, Okahisa Y, Ikeda M, Iwata N, Mori D, Aleksic B, Ozaki N.
  • 雑誌名: Psychiatr Genet. 巻: 5 ページ: 90-93
  • DOI: 10.1097/YPG.0000000000000204
  • 査読あり
• [雑誌論文] Rare loss of function mutations in N-methyl-d-aspartate glutamate receptors and their contributions to schizophrenia susceptibility (2018)
  • 著者名/発表者名: Yu Y, Lin Y, Takasaki Y, Wang C, Kimura H, Xing J, Ishizuka K, Toyama M, Kushima I, Mori D, Arioka Y, Uno Y, Shiino T, Nakamura Y, Okada T, Morikawa M, Ikeda M, Iwata N, Okahisa Y, Takaki M, Sakamoto S, Someya T, Egawa J, Usami M, Kodaira M, Yoshimi A, Oya-Ito T, Aleksic B, Ohno K, Ozaki N.
  • 雑誌名: Translational Psychiatry 巻: 8(1) ページ: 12
  • DOI: 10.1038/s41398-017-0061-y
  • 査読あり / オープンアクセス