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Whole exome analysis for causative genes of familial IgA nephropathy

Research Project

Project/Area Number 23591185
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Kidney internal medicine
Research InstitutionNiigata University

Principal Investigator

GOTO Shin  新潟大学, 医歯学系, 講師 (00463969)

Co-Investigator(Kenkyū-buntansha) NARITA Ichiei  新潟大学, 医歯学系, 教授 (20272817)
Project Period (FY) 2011 – 2013
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2013: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2011: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywords家族性IgA腎症 / エクソーム解析 / 連鎖解析 / 全ゲノム連鎖解析 / 次世代シークエンサー
Research Abstract

In sporadic IgA nephropathy (IgAN), GWAS disclosed several risk variants, however, causative genes for familial IgAN remained elusive. We applied exome sequencing analysis in family comprising of four biopsy-proven IgAN. To identify the causative gene variant, several filtering screening were carried out based on non-synonymous, frequency less than one percent of 1000 genome project, and heterozygosity fitted with autosomal dominant inheritance. Finally, 13 variants were selected shared by all affected individuals. Among them, EEA1 variant were completely cosegregated with affection status of the family members, showed significant higher values in sequence conservation and prediction of functional changes of protein by amino-acid substitution. We are now investigating the functional analysis of EEA1 variant, and it is expected that these analyses will lead to the development of innovative therapeutics.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • 2011 Research-status Report
  • Research Products

    (15 results)

All 2014 2013 2012 2011 Other

All Journal Article (5 results) (of which Peer Reviewed: 5 results) Presentation (10 results) (of which Invited: 1 results)

  • [Journal Article] Role of the p.E66Q variant of GLA in the progression of chronic kidney disease2014

    • Author(s)
      Watanabe H, Goto S, Miyashita A, Maruyama H, Wakasugi M, Yokoseki A, Kuwano R, Narita I
    • Journal Title

      Clin Exp Nephrol

      Volume: (Epub ahead of print)

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Role of the p.E66Q variant of GLA in the progression of chronic kidney disease2014

    • Author(s)
      Watanabe H, Goto S, Miyashita A, Maruyama H, Wakasugi M, Yokoseki A, Kuwano R, Narita I
    • Journal Title

      Clin Exp Nephrol

      Volume: Epub ahead of print Issue: 2 Pages: 225-230

    • DOI

      10.1007/s10157-014-0969-y

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Membranoproliferative pattern of glomerular injury associated with complement component 9 deficiency due to Arg95Stop mutation2011

    • Author(s)
      Miura T, Goto S, Iguchi S, Shimada H, Ueno M, Nishi S, Narita I
    • Journal Title

      Clin Exp Nephrol

      Volume: 15 Pages: 86-91

    • NAID

      10029004557

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Expression of SM22α(transgelin) in glomerular and interstitial renal injury2011

    • Author(s)
      Inomata S, Sakatsume M, Sakamaki Y, Wang X, Goto S, Yamamoto T, Gejyo F, Narita I
    • Journal Title

      Nephron Exper Nephrol

      Volume: 117

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Three cases of gastric antral vascular ectasia in chronic renal failure2011

    • Author(s)
      Iguchi A, Kazama J, Komatsu M, Kaneko Y, Iino N, Goto S, Narita I
    • Journal Title

      Nephrol and Urol

      Pages: 15-19

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Presentation] p.E66Q variant ofα-galactosidase A does not affect the progression of chronic kidney disease2013

    • Author(s)
      Hirofumi Watanabe, Shin Goto, Hiroki Maruyama, Ichiei Narita
    • Organizer
      Kidney Week
    • Place of Presentation
      Atlanta, GA, USA
    • Related Report
      2013 Final Research Report
  • [Presentation] Exome Sequencing Identifies a Novel EEA1 Variant in Japanese Familial IgA Nephropathy2012

    • Author(s)
      Shin Goto, Kazuyoshi Hosomichi, Hiroyasu Tsukaguchi, Ichiei Narita
    • Organizer
      American Society of Nephrology Kidney Week 2012
    • Place of Presentation
      San Diego, USA
    • Related Report
      2013 Final Research Report
  • [Presentation] Symposium : Membranoproliferative glomerulonephritis2011

    • Author(s)
      Narita I
    • Organizer
      Advancement in Treatment of Nephrotic Syndrome
    • Place of Presentation
      Yokohama
    • Year and Date
      2011-06-14
    • Related Report
      2013 Final Research Report
  • [Presentation] Genome-wide linkagescan of Japanese families with IgA nephropathy2011

    • Author(s)
      Goto S, Tsukaguchi H, Wada M, Narita I
    • Organizer
      American Society of Nephrology Kidney Week
    • Place of Presentation
      Phiradelphia, USA
    • Related Report
      2013 Final Research Report
  • [Presentation] Genome-wide linkage scan of Japanese families with IgA nephropathy2011

    • Author(s)
      Shin Goto, Hiroyasu Tsukaguchi, Masakazu Wada, Ichiei Narita
    • Organizer
      American Society of Nephrology Kidney Week 2011
    • Place of Presentation
      ペンシルバニア・コンベンションセンター、フィラデルフィア、米国
    • Related Report
      2011 Research-status Report
  • [Presentation] 家族性IgA腎症の全ゲノム連鎖解析2011

    • Author(s)
      後藤眞、塚口裕康、和田真一、福田陽子、辻省次、成田一衛
    • Organizer
      第54回日本腎臓学会学術総会
    • Place of Presentation
      パシフィコ横浜、神奈川県
    • Related Report
      2011 Research-status Report
  • [Presentation] 家族内集積を示す腎疾患のエクソーム解析

    • Author(s)
      後藤 眞、細道一善、塚口裕康、渡辺博文、井ノ上逸朗、成田一衛
    • Organizer
      第56回 日本腎臓学会学術総会
    • Place of Presentation
      東京国際フォーラム
    • Related Report
      2013 Annual Research Report
    • Invited
  • [Presentation] p.E66Q variant of α-galactosidase A does not affect the progression of chronic kidney disease

    • Author(s)
      Hirofumi Watanabe, Shin Goto, Hiroki Maruyama, Ichiei Narita
    • Organizer
      Kidney Week 2013
    • Place of Presentation
      San Diego, USA
    • Related Report
      2013 Annual Research Report
  • [Presentation] Exome sequencing identifies a novel EEA1 variant in Japanese familial IgA nephropathy

    • Author(s)
      Shin Goto, Kazuyoshi Hosomichi, Hiroyasu Tsukaguchi, Ichiei Narita
    • Organizer
      American Society of Nephrology Kidney Week 2012
    • Place of Presentation
      サンディエゴ・コンベンションセンター、CA、米国
    • Related Report
      2012 Research-status Report
  • [Presentation] 次世代シーケンサーを用いた腎臓病研究:家族性IgA腎症のエクソーム解析

    • Author(s)
      後藤 眞
    • Organizer
      第55回日本腎臓学会総会
    • Place of Presentation
      パシフィコ横浜、神奈川県
    • Related Report
      2012 Research-status Report

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Published: 2011-08-05   Modified: 2019-07-29  

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