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Personal genome analysis on Alzheimer's disease

Planned Research

Project AreaPersonal genome-based initiatives toward understanding bran diseases
Project/Area Number 22129004
Research Category

Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)

Allocation TypeSingle-year Grants
Review Section Biological Sciences
Research InstitutionNiigata University

Principal Investigator

KUWANO Ryozo  新潟大学, 脳研究所, フェロー (20111734)

Co-Investigator(Kenkyū-buntansha) KAKITA Akiyoshi  新潟大学, 脳研究所, 教授 (80281012)
Co-Investigator(Renkei-kenkyūsha) MIYASHITA Akinori  新潟大学, 脳研究所, 助教 (60323995)
Project Period (FY) 2010-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥125,840,000 (Direct Cost: ¥96,800,000、Indirect Cost: ¥29,040,000)
Fiscal Year 2014: ¥23,270,000 (Direct Cost: ¥17,900,000、Indirect Cost: ¥5,370,000)
Fiscal Year 2013: ¥24,440,000 (Direct Cost: ¥18,800,000、Indirect Cost: ¥5,640,000)
Fiscal Year 2012: ¥25,610,000 (Direct Cost: ¥19,700,000、Indirect Cost: ¥5,910,000)
Fiscal Year 2011: ¥25,350,000 (Direct Cost: ¥19,500,000、Indirect Cost: ¥5,850,000)
Fiscal Year 2010: ¥27,170,000 (Direct Cost: ¥20,900,000、Indirect Cost: ¥6,270,000)
Keywordsアルツハイマー病 / パーソナルゲノム / 次世代シークエンス / 脳組織 / 遺伝子発現 / 家族内発症 / 変異 / 次世代シークエンサー / エクソーム / 全塩基配列 / メチル化DNA
Outline of Final Research Achievements

Twin studies and λs (=5.0) of Alzheimer’s disease indicate that genetic risk factors are thought to contribute the development and progression. SNP-based genome-wide association studies have been intensively done. As the most of risk SNPs identified are only small effect on the disease, the family-based genome analysis has been re-evaluated. The next generation sequencing proved to be a new powerful tool to determine rare variants in patents with family history. In addition to genome sequencing, we performed gene expression analysis of human brains diagnosed as to senile plaques and neurofibrillary tangles by the exon-array and next generation sequencing. It should be innovated the possible mechanism that gene expression is regulated by a gene-gene cluster between distal regions on the same chromosome or on a different chromosome, and alternatively by non-coding RNA including microRNA.

Report

(6 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Annual Research Report
  • 2012 Annual Research Report
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (41 results)

All 2015 2014 2013 2012 2011 2010 Other

All Journal Article (27 results) (of which Peer Reviewed: 27 results,  Open Access: 5 results,  Acknowledgement Compliant: 1 results) Presentation (14 results) (of which Invited: 2 results)

  • [Journal Article] A Second Pedigree with Amyloid-less Familial Alzheimer's Disease Harboring an Identical Mutation in the <i>Amyloid Precursor Protein</i> Gene (E693delta)2015

    • Author(s)
      Kutoku Y ほか
    • Journal Title

      Internal Medicine

      Volume: 54 Issue: 2 Pages: 205-208

    • DOI

      10.2169/internalmedicine.54.3021

    • NAID

      130004903009

    • ISSN
      0918-2918, 1349-7235
    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Immune-related pathways including HLA-DRB1(*)13:02 are associated with panic disorder.2015

    • Author(s)
      Shimada-Sugimoto M ほか
    • Journal Title

      Brain Behav Immun

      Volume: Epub Pages: 96-103

    • DOI

      10.1016/j.bbi.2015.01.002

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Globular glial mixed four repeat tau and TDP-43 proteinopathy with motor neuron disease and frontotemporal dementia2015

    • Author(s)
      Takeuchi R ほか
    • Journal Title

      Brain Pathol

      Volume: in press

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Characteristic p57/Kip2 immunoreactivity of balloon cells in focal cortical dysplasia.2015

    • Author(s)
      Kimura T ほか
    • Journal Title

      Neuropathology

      Volume: in press

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Systematic review and meta-analysis of Japanese 
familial Alzheimer’s disease and FTDP-17.2015

    • Author(s)
      Kasuga K ほか
    • Journal Title

      Journal of Human Genetics

      Volume: in press

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Lack of genetic association between TREM2 and late-onset Alzheimer’s disease in a Japanese population2014

    • Author(s)
      Akinori Miyashitaa, Yanan Wen 他
    • Journal Title

      J Alzheimer's Dis.

      Volume: 印刷中 Issue: 4 Pages: 1301-1308

    • DOI

      10.3233/jad-140225

    • Related Report
      2014 Annual Research Report 2013 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genes associated with the progression of neurofibrillary tangles in Alzheimer’s disease2014

    • Author(s)
      Miyashita A ほか
    • Journal Title

      Translational Psychiatry

      Volume: 4 Issue: 6 Pages: e396-e396

    • DOI

      10.1038/tp.2014.35

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation2014

    • Author(s)
      Jun G ほか
    • Journal Title

      Ann Neurol

      Volume: 76 Issue: 3 Pages: 379-392

    • DOI

      10.1002/ana.24219

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] C9ORF72 repeat-associated non-ATG-translated polypeptides are distributed independently of TDP-43 in a Japanese patient with c9ALS2014

    • Author(s)
      Konno T ほか
    • Journal Title

      Neuropathol Appl Neurobiol

      Volume: 40 Issue: 6 Pages: 783-788

    • DOI

      10.1111/nan.12157

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Entrapment of the inferior horn of the lateral ventricle with enlargement of the bilateral choroid plexus2014

    • Author(s)
      Ogura R ほか
    • Journal Title

      Neuropathology

      Volume: 34 Issue: 2 Pages: 210-213

    • DOI

      10.1111/neup.12072

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Clinical and neuroimaging features of patient with early-onset Parkinson's disease with dementia carrying SNCA p.G51D mutation.2014

    • Author(s)
      Tokutake T, Ishikawa A, Yoshimura N, Miyashita A, Kuwano R, Nishizawa M, Ikeuchi T
    • Journal Title

      Parkinsonism Relat Disord

      Volume: 20 Issue: 2 Pages: 262-264

    • DOI

      10.1016/j.parkreldis.2013.11.008

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] ALS-associated protein FIG4 is localized in Pick and Lewy bodies, and neuronal nuclear inclusions in polyglutamine and intranuclear inclusion body diseases.2014

    • Author(s)
      Kon T, Mori F, Yanji F, Miki Y, Toyoshima Y, Yoshida M, Sasaki H, Kakita A, Takahashi H, Wakabayashi K
    • Journal Title

      Neuropathology

      Volume: 34 Issue: 1 Pages: 19-26

    • DOI

      10.1111/neup.12056

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Haploinsufficiency of CSF-1R and clinicopathological characterization in patients with HDLS.2014

    • Author(s)
      Konno T, Tada M, Tada M, Koyama A, Nozaki H, Harigaya Y, Nishimiya J, Matsunaga A, Yoshikura N, Ishihara K, Arakawa M, Isami A, Okazaki K, Yokoo H, Ihoh K, Yoneda M, Kawamura M, Inuzuka T, Takahashi H, Nishizawa M, Onodera O, Kakita A, Ikeuchi T
    • Journal Title

      Neurology

      Volume: 82 Issue: 2 Pages: 139-148

    • DOI

      10.1212/wnl.0000000000000046

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Argyrophilic grains are reliable disease-specific features of corticobasal degeneration.2014

    • Author(s)
      Tatsumi S, Mimuro M, Iwasaki Y, Takahashi R, Kakita A, Takahashi H, Yoshida M
    • Journal Title

      J Neuropathol Exp Neurol

      Volume: 73 Issue: 1 Pages: 30-38

    • DOI

      10.1097/nen.0000000000000022

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 15. Identification of unstable network modules reveals disease modules associated with the progression of Alzheimer's disease2013

    • Author(s)
      Kikuchi M, Ogishima S, Miyamoto T, Miyashita A, Kuwano R, Nakaya J, Tanaka H
    • Journal Title

      PLoS One

      Volume: 8 Issue: 11 Pages: e76162-e76162

    • DOI

      10.1371/journal.pone.0076162

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutations in COQ2 in familial and sporadic multiple-system atrophy the multiple-system atrophy research collaboration2013

    • Author(s)
      Mitsui J, et. al.
    • Journal Title

      N Engl J Med

      Volume: 369 Issue: 3 Pages: 233

    • DOI

      10.1056/nejmoa1212115

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Cerebrospinal fluid levels of phosphorylated tau and Aβ1-38/Aβ1-40/Aβ1-42 in Alzheimer's disease with PS1 mutations.2013

    • Author(s)
      Ikeda M, Yonemura K, Kakuda S, Tashiro Y, Fujita Y, Takai E, Hashimoto Y, Makioka K, Furuta N, Ishiguro K, Maruki R, Yoshida J, Miyaguchi O, Tsukie T, Kuwano R, Yamazaki T, Yamaguchi H, Amari M, Takatama M, Harigaya Y, Okamoto K
    • Journal Title

      Amyloid

      Volume: 20 Issue: 2 Pages: 107-712

    • DOI

      10.3109/13506129.2013.790810

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Brain expression level and activity of HDAC6 protein in neurodegenerative dementia.2013

    • Author(s)
      Odagiri S, Tanji K, Mori F, Miki Y, Kakita A, Takahashi H, Wakabayashi K
    • Journal Title

      Biochem Biophys Res Commun

      Volume: 430 Issue: 1 Pages: 397-399

    • DOI

      10.1016/j.bbrc.2012.11.034

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians2013

    • Author(s)
      Miyashita A, Koike A, Jun G, Kawarabayashi T, Shoji M,Arai H, Asada T, Harigaya Y, Ikeda M, Amari M, Ikeuchi T, St. George-Hyslop P,
    • Journal Title

      PLoS One

      Volume: 8 Issue: 4 Pages: e58618-e58618

    • DOI

      10.1371/journal.pone.0058618

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] SORL1 is genetically associated with neuropathologically characterized late-onset Alzheimer's disease2013

    • Author(s)
      Wen Y, Miyashita A, Kitamura N, Tsukie T, Saito Y, Hatsuta H, Murayama S, et al.
    • Journal Title

      J Alzheimers Dis

      Volume: 35(2) Issue: 2 Pages: 387-94

    • DOI

      10.3233/jad-122395

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A map of Alzheimer'sdisease-signaling pathways: a hope for drug target discovery2013

    • Author(s)
      Ogishima S, Mizuno S, Kikuchi M, Miyashita A, Kuwano R, Tanaka H, Nakaya J.
    • Journal Title

      Clin Pharmacol Ther

      Volume: 93(5) Issue: 5 Pages: 399-401

    • DOI

      10.1038/clpt.2013.37

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Cognitive impairment and cortical degeneration in neuromyelitis optica.2012

    • Author(s)
      Saji E, Arakawa M, Yanagawa K, Toyoshima Y, Yokoseki A, Okamoto K, Otsuki M, Akazawa K, Kakita A, Takahashi H, Nishizawa M, Kawachi I.
    • Journal Title

      Ann Neurol.

      Volume: 73 Issue: 1 Pages: 65-76

    • DOI

      10.1002/ana.23721

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] AlzPathway: a comprehensive map of signaling pathways of Alzheimer'sdisease2012

    • Author(s)
      Mizuno S, Iijima R, Ogishima S, Kikuchi M, Matsuoka Y, Ghosh S, Miyamoto T, Miyashita A, Kuwano R, Tanaka H.
    • Journal Title

      BMC Syst Biol

      Volume: 6 Issue: 1 Pages: 52-52

    • DOI

      10.1186/1752-0509-6-52

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Alteration of P0LDIP3 Splicing Associated with Loss of Function of TDP-43 in Tissues Affected with ALS2012

    • Author(s)
      Shiga A, et al ;
    • Journal Title

      PLoS ONE

      Volume: 7(8) Issue: 8 Pages: e43120-e43120

    • DOI

      10.1371/journal.pone.0043120

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Imaging findings of familial dementia with a tau R406W mutation2011

    • Author(s)
      Komatsu J., et al
    • Journal Title

      Acta Neurol Belg

      Volume: 111 Pages: 374-375

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A genome-wide CNV association study on panic disorder in a Japanese population2011

    • Author(s)
      Kawamura Y., et al
    • Journal Title

      J Hum Genet

      Volume: 56 Issue: 12 Pages: 852-856

    • DOI

      10.1038/jhg.2011.117

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Increased level of soluble LR11 in cerebrospinal fluid of patients with Alzheimer disease.2010

    • Author(s)
      Ikeuchi T., et al
    • Journal Title

      Dementia and Geriatric Cognitive Disorders

      Volume: 30 Pages: 28-32

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Presentation] ヒト剖検脳を用いたアルツハイマー病関連マイクロRNAの解析2014

    • Author(s)
      原範和 ほか
    • Organizer
      日本認知症学会
    • Place of Presentation
      横浜パシフィコ
    • Year and Date
      2014-11-27 – 2014-12-01
    • Related Report
      2014 Annual Research Report
  • [Presentation] アルツハイマー病における生体分子間ネットワーク解析手法の提案2014

    • Author(s)
      菊地正隆 ほか
    • Organizer
      日本認知症学会
    • Place of Presentation
      横浜パシフィコ
    • Year and Date
      2014-11-27 – 2014-12-01
    • Related Report
      2014 Annual Research Report
  • [Presentation] 本邦・家族性アルツハイマー病のデータベース(JFADdb)の構築2014

    • Author(s)
      春日健作
    • Organizer
      日本認知症学会
    • Place of Presentation
      横浜パシフィコ
    • Year and Date
      2014-11-27 – 2014-12-01
    • Related Report
      2014 Annual Research Report
  • [Presentation] 細胞特異的な遺伝子発現は染色体高次構造の影響を受けるのか?2014

    • Author(s)
      菊地正隆 ほか
    • Organizer
      日本分子生物学会
    • Place of Presentation
      横浜パシフィコ
    • Year and Date
      2014-11-25 – 2014-11-27
    • Related Report
      2014 Annual Research Report
  • [Presentation] Genes associated with the progression of neurofibrillary tangles in Alzheimer’s disease brains2014

    • Author(s)
      Miyashita A ほか
    • Organizer
      AAIC
    • Place of Presentation
      Bella Center, Copenhagen, Denmark
    • Year and Date
      2014-07-11 – 2014-07-17
    • Related Report
      2014 Annual Research Report
  • [Presentation] Clinical and Neuroimaging Features of a Patient with Early-Onset Parkinso n's Disease with Dementia Carrying SNCA p.G51D Mutation2014

    • Author(s)
      Tokutake T ほか
    • Organizer
      American Academy of Neurology
    • Place of Presentation
      Pennsylvania Convention Center, Philadelphia, USA
    • Year and Date
      2014-04-26 – 2014-05-03
    • Related Report
      2014 Annual Research Report
  • [Presentation] SORL1 is Genetically Associated With Late-Onset Alzheimer's Disease in Japanese, Koreans and Caucasians.2013

    • Author(s)
      Miyashita A, Kuwano R, Schellenberg G, Ihara Y, Kanazawa I, Tsuji S, Yamamoto K, Tokunaga K, Nishida N, Yoshida M, Pericak-Vance M, Haines J, Mayeux R, St. George-Hyslop P, Kim JW, Takahashi S, Wang LS, Jun G, Koike A, Farrer L
    • Organizer
      AAIC
    • Place of Presentation
      アメリカ、ボストン
    • Related Report
      2013 Annual Research 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
    • Place of Presentation
      神戸
    • Related Report
      2013 Annual Research Report
  • [Presentation] 2) 細胞特異的なゲノム高次構造解析法の検討2013

    • Author(s)
      長谷川 舞衣, 原 範和, 菊地 正隆, 宮下 哲典, 中谷 明弘, 池内 健, 桑野 良三
    • Organizer
      第36回日本分子生物学会
    • Place of Presentation
      神戸
    • Related Report
      2013 Annual Research Report
  • [Presentation] アルツハイマー型認知症の分子遺伝学2012

    • Author(s)
      桑野良三
    • Organizer
      日本生物学的精神医学
    • Place of Presentation
      神戸
    • Year and Date
      2012-09-28
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] Genome-wide association study of Alzheimer’s disease: a collaborative genetic study on Alzheimer’s disease with Japan, Korea and the Alzheimer’s Disease Genetics Consortium2012

    • Author(s)
      Kuwano R
    • Organizer
      the Alzheimer's Association International Conference (AAIC)
    • Place of Presentation
      Vancouver, Canada
    • Year and Date
      2012-07-14
    • Related Report
      2012 Annual Research Report
  • [Presentation] Gene expression analysis in the postmortem brains classified by Braak NFT-SP staging2012

    • Author(s)
      Miyashita A
    • Organizer
      the Alzheimer's Association International Conference (AAIC)
    • Place of Presentation
      Vancouver, Canada
    • Year and Date
      2012-07-14
    • Related Report
      2012 Annual Research Report
  • [Presentation] 日本人における晩期発症型アルツハイマー病のGWAS2011

    • Author(s)
      桑野良三
    • Organizer
      日本神経科学会
    • Place of Presentation
      横浜市
    • Related Report
      2011 Annual Research Report
  • [Presentation] 認知症の表現型を説明する遺伝子解析の試み

    • Author(s)
      桑野良三
    • Organizer
      第18回日本認知神経科学会学術集会
    • Place of Presentation
      東京
    • Related Report
      2013 Annual Research Report
    • Invited

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Published: 2010-08-23   Modified: 2019-07-29  

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