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Copy number variation database of Alzheimer's disease for genome analysis

Research Project

Project/Area Number 25430181
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field System genome science
Research InstitutionOsaka University (2014-2015)
Niigata University (2013)

Principal Investigator

Nakaya Akihiro  大阪大学, 医学系研究科, 特任教授(常勤) (60301149)

Co-Investigator(Kenkyū-buntansha) KUWANO Ryozo  新潟大学, 脳研究所, フェロー (20111734)
MIYASHITA Akinori  新潟大学, 脳研究所, 助教 (60323995)
Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywordsアルツハイマー病 / コピー数変異 / マイクロアレイ / コピー数多型
Outline of Final Research Achievements

We developed a comprehensive database (AD/GD CNVdb) that comprises genome-wide copy number variations (CNVs) in more than 2,000 unrelated Japanese subjects including patients of Alzheimer’s disease (AD). Besides the healthy controls (N=1,000), it contains diseased subjects categorized into two types, EOAD (early-onset AD, N=300) and LOAD (late-onset AD, N=1,000). All the subjects were analyzed by the Affymetrix SNP 6.0 Array to identify CNVs, and the raw intensity data at more than 1.8 million markers were converted into the actual copy number states. In each subject group, we evaluated rates of CNVs (gain and loss) at the markers, and extracted the CNV regions where the continuous markers indicate rates of CNVs higher than a threshold along the genome sequence. We then conducted case-control studies among the subject groups using the CNV regions, and visualized the results to elucidate the relationships between the structural variations and the disease.

Report

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

    (11 results)

All 2015 2014 2013 Other

All Journal Article (1 results) (of which Peer Reviewed: 1 results) Presentation (9 results) (of which Int'l Joint Research: 1 results) Remarks (1 results)

  • [Journal Article] Genes associated with the progression of neurofibrillary tangles in Alzheimer's disease2014

    • Author(s)
      Akinori Miyashita, Hiroyuki Hatsuta, Masataka Kikuchi, Akihiro Nakaya, Yuko Saito, Tamao Tsukie, Norikazu Hara, Soichi Ogishima, Nobutaka Kitamura, Kohei Akazawa, Akiyoshi Kakita, Hitoshi Takahashi, Shigeo Murayama, Yasuo Ihara, Takeshi Ikeuchi, and Ryozo Kuwano
    • Journal Title

      Translational Psychiatry

      Volume: 印刷中

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] Genomic structure and distribution of copy number variations in relation to Japanese Alzheimer's disease2015

    • Author(s)
      Nakaya A, Kikuchi M, Miyashita A, Hara N, Kasuga K, Nishida N, Tokunaga K, Kuwano R, and Ikeuchi T
    • Organizer
      第38回日本分子生物学会年会
    • Place of Presentation
      神戸ポートアイランド
    • Year and Date
      2015-12-01
    • Related Report
      2015 Annual Research Report
  • [Presentation] アルツハイマー病感受性領域が近接する染色体領域の同定2015

    • Author(s)
      菊地正隆, 原範和, 長谷川舞衣, 宮下哲典, 桑野良三, 池内健, 中谷明弘
    • Organizer
      第38回日本分子生物学会年会
    • Place of Presentation
      神戸ポートアイランド
    • Year and Date
      2015-12-01
    • Related Report
      2015 Annual Research Report
  • [Presentation] AD/GD CNVdb (Alzheimer's Disease Genomic Databases, Copy Number Variation Database)2015

    • Author(s)
      Nakaya A, Kikuchi M, Miyashita A, Hara N, Kasuga K, Nishida N, Tokunaga K, Kuwano R, and Ikeuchi T
    • Organizer
      日本バイオインフォマティクス学会2015年年会
    • Place of Presentation
      京都大学宇治キャンパスおうばくプラザ
    • Year and Date
      2015-10-29
    • Related Report
      2015 Annual Research Report
  • [Presentation] アルツハイマー病感受性領域が近接する染色体領域の同定2015

    • Author(s)
      菊地正隆, 原範和, 長谷川舞衣, 宮下哲典, 桑野良三, 池内健, 中谷明弘
    • Organizer
      日本人類遺伝学会第60回大会
    • Place of Presentation
      京王プラザホテル
    • Year and Date
      2015-10-17
    • Related Report
      2015 Annual Research Report
  • [Presentation] Identification of chromosomal regions interacting with susceptibility loci for Alzheimer’s disease2015

    • Author(s)
      Kikuchi M, Hara N, Hasegawa M, Miyashita A, Kuwano R, Ikeuchi T, and Nakaya A
    • Organizer
      American Society of Human Genetics Annual Meeting 2015
    • Place of Presentation
      Baltimore, MD, USA
    • Year and Date
      2015-10-06
    • Related Report
      2015 Annual Research Report
    • Int'l Joint Research
  • [Presentation] アルツハイマー病感受性領域が近接する染色体領域の同定2015

    • Author(s)
      菊地正隆, 原範和, 長谷川舞衣, 宮下哲典, 桑野良三, 池内健, 中谷明弘
    • Organizer
      第34回日本認知症学会学術集会
    • Place of Presentation
      リンクステーション青森・ホテル青森
    • Year and Date
      2015-10-02
    • Related Report
      2015 Annual Research Report
  • [Presentation] 細胞特異的な染色体高次構造は遺伝子発現を調節するのか?2014

    • Author(s)
      菊地正隆, 長谷川舞衣, 原範和, 宮下哲典, 中谷明弘, 池内健, 桑野良三
    • Organizer
      第37回日本分子生物学会年会
    • Place of Presentation
      パシフィコ横浜(横浜)
    • Year and Date
      2014-11-26
    • Related Report
      2014 Research-status Report
  • [Presentation] AD/GD CNVdb: アルツハイマー病のコピー数変異データベース2013

    • Author(s)
      中谷明弘, 宮下哲典, 菊地正隆, 長谷川舞衣, 原範和, 西田奈央, 徳永勝士, 井原康夫, 池内健, 桑野良三
    • Organizer
      第36回日本分子生物学会年会
    • Place of Presentation
      神戸国際会議場
    • Related Report
      2013 Research-status Report
  • [Presentation] 疾患関連ゲノム多型情報の解析手法2013

    • Author(s)
      中谷明弘
    • Organizer
      NGS現場の会第三回研究会
    • Place of Presentation
      神戸国際会議場
    • Related Report
      2013 Research-status Report
  • [Remarks] AD/GD CNVdb (Copy Number Variant Database)

    • URL

      https://www.gi.med.osaka-u.ac.jp/cnvdb

    • Related Report
      2014 Research-status Report

URL: 

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

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