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Genetic studies on familial interstitial nephritis

Research Project

Project/Area Number 21591045
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Kidney internal medicine
Research InstitutionKansai Medical University

Principal Investigator

TSUKAGUCHI Hiroyasu  関西医科大学, 医学部, 助教 (60335792)

Project Period (FY) 2009 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2011: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2010: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2009: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Keywords尿細管 / ゲノム / 疾患遺伝子 / 慢性腎臓病 / 腎不全 / 間質性腎炎 / 連鎖解析 / 腎尿細管
Research Abstract

Chronic kidney disease(CKD) is clinically heterogeneous groups of diseases at a higher risk of potentially progressing to the end stage renal failure. The CKD is becoming a global health problem since it is indeed highly prevalent at one in eight adult individuals. The tubule-interstitial injuries significantly contribute to the pathogenesis of CKD as a primary initiating factor and/or a secondary exacerbating changes resulting from the glomerular insults. However, earlier tubule-interstitial injuries are often under-recognized because the patients barely manifest overt proteinuria and renal dysfunction. To improve the treatment for CKD, there is a need for elucidation of new disease biomarkers and genetic risk factors underlying tubule-interstitial diseases.
This study aimed to identify the disease genes underling a large dominant family with tubule-interstitial nephritis. A combined approach of linkage analysis and next generation sequencing revealed that two novel single nucleotide variants may explain the susceptibility for interstitial nephritis.

Report

(4 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (29 results)

All 2012 2011 2010 2009 Other

All Journal Article (16 results) (of which Peer Reviewed: 12 results) Presentation (10 results) Book (3 results)

  • [Journal Article] ゲノムからみた慢性腎臓病の発症機序解明へのアプローチ2012

    • Author(s)
      塚口裕康
    • Journal Title

      細胞

      Volume: 44 Pages: 20-26

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Journal Article] Glomerular proteins related to slit diaphragm and matrix adhesion in the foot processes are highly tyrosine phosphorylated in the normal rat kidney2010

    • Author(s)
      Zhang Y, Yoshida Y, Nameta M, Xu B, Taguchi I, Ikeda T, Fujinaka H, Mohamed SM, Tsukaguchi H, Harita Y, Yaoita E, Yamamoto T
    • Journal Title

      Nephrol Dial Transplant

      Volume: 25 Pages: 1785-1795

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] More on clinical renal genetics2010

    • Author(s)
      Grunfeld JP, Hwu W, Chien Y, Brown E, Schlondorff J, Becker Dj, Tsukaguchi H, Uschinski A, Higgs H, Henderson J, Pollak M, et al
    • Journal Title

      Clin J Am Soc Nephrol

      Volume: 5 Pages: 563-567

    • Related Report
      2011 Final Research Report
  • [Journal Article] 遺伝子異常に起因するネフローゼ症候群2010

    • Author(s)
      飯島一誠、塚口裕康
    • Journal Title

      日本腎臓学会誌

      Volume: 52 Pages: 914-923

    • NAID

      10029735540

    • Related Report
      2011 Final Research Report 2010 Annual Research Report
  • [Journal Article] Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis2010

    • Author(s)
      Brown EJ, Schlondorff JS, Becker DJ, Tsukaguchi H, Uscinski AL, Higgs HN, Henderson JM, Pollak MR
    • Journal Title

      Nat Genet

      Volume: 41 Pages: 72-76

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Glomerular proteins related to slit diaphragm and matrix adhesion in the foot processes are highly tyrosine phosphorylated in the normal rat kidney.2010

    • Author(s)
      Zhang Y, Yoshida Y, Nameta M, Xu B, Taguchi I, Ikeda T, Fujinaka H, Mohamed SM, Tsukaguchi H, Harita Y, Yaoita E, Yamamoto T.
    • Journal Title

      Nephrol Dial Transplant.

      Volume: 25(6) Pages: 1785-1795

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.2010

    • Author(s)
      Brown EJ, Schlondorff JS, Becker DJ, Tsukaguchi H, Uscinski AL, Higgs HN, Henderson JM, Pollak MR
    • Journal Title

      Nat Genet.

      Volume: 42(1) Pages: 72-76

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains2009

    • Author(s)
      Shono A, Tsukaguchi H, Kitamura A, Hiramoto R, Qin XS, Doi T, Iijima K
    • Journal Title

      Hum Mol Genet

      Volume: 18 Pages: 2943-2956

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Phosphorylation of nephrin triggers its internalization by raft-mediated endocytosis2009

    • Author(s)
      Qin XS, Tsukaguchi H, Shono A, Yamamoto A, Kurihara H, Doi T
    • Journal Title

      J Am Soc Nephrol

      Volume: 20 Pages: 2534-2545

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] More on clinical renal genetics2009

    • Author(s)
      Grunfeld JP, Hwu W, Chien Y, Brown E, Schlondorff J, Becker Dj, Tsukaguchi H, Uschinski A, Higgs H, Henderson J, Pollak M, et al
    • Journal Title

      Clin J Am Soc Nephrol. 5

      Pages: 563-567

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis2009

    • Author(s)
      Brown EJ, Schlondorff JS, Becker DJ, Tsukaguchi H, Uscinski AL, Higgs HN, Henderson JM, Pollak MR
    • Journal Title

      Nat Genet. 42

      Pages: 72-76

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Predisposition to relapsing nephrotic syndrome by a nephrinmutation that interferes with assembly of functioning microdomains2009

    • Author(s)
      Shono A, Tsukaguchi H, Kitamura A, Hiramoto R, Qin XS, Doi T, Iijima K
    • Journal Title

      Hum Mol Genet. 18

      Pages: 2943-2956

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Phosphorylation of nephrin triggers its internalization by raft-mediated endocytosis2009

    • Author(s)
      Qin XS, Tsukaguchi H, Shono A, Yamamoto A, Kurihara H, Doi T
    • Journal Title

      J Am Soc Nephrol 20

      Pages: 2534-2545

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 【ネフローゼ症候群:診断と治療の進歩】ネフローゼ症候群と遺伝子異常2009

    • Author(s)
      塚口裕康
    • Journal Title

      日本内科学会誌 98

      Pages: 1076-1083

    • Related Report
      2009 Annual Research Report
  • [Journal Article] Methicillin-resistant Staphylococcus aureus-related glomerulonephritis in a child

    • Author(s)
      Kimata T, Tsuji S, Yoshimura K, Tsukaguchi H, Kaneko K
    • Journal Title

      Pediatr Nephrol

      Volume: (In press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Glomerular proteins related to slit diaphragm and matrix adhesion in the foot processes are highly tyrosine phosphorylated in the normalrat kidney

    • Author(s)
      Zhang Y, Yoshida Y, Nameta M, Xu B, Taguchi I, Ikeda T, Fujinaka H, Mohamed SM, Tsukaguchi H, Harita Y, Yaoita E, Yamamoto T.
    • Journal Title

      Nephrol Dial Transplant. E pub Jan 12

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Presentation] 分子病態理解に基づく難治性ネフローゼ克服へのアプローチ2012

    • Author(s)
      塚口裕康
    • Organizer
      第47回日本小児腎臓病学会
    • Place of Presentation
      都市センターホテル
    • Year and Date
      2012-06-29
    • Related Report
      2011 Final Research Report
  • [Presentation] 次世代シークエンサを用いた腎臓病研究:家族性IgA腎症のエクソーム解析2012

    • Author(s)
      後藤眞、細道一善、塚口裕康、井ノ上逸朗、成田一衛
    • Organizer
      第55回日本腎臓学会学術集会
    • Place of Presentation
      パシフィコ横浜
    • Year and Date
      2012-06-01
    • Related Report
      2011 Final Research Report
  • [Presentation] 分子病態理解に基づく難治性ネフローゼ克服へのアプローチ2012

    • Author(s)
      塚口裕康
    • Organizer
      第115回日本小児科学会学術集会
    • Place of Presentation
      福岡国際会議場
    • Year and Date
      2012-04-21
    • Related Report
      2011 Final Research Report
  • [Presentation] Molecular Genetics of Steroid-Resistant Nephrotic Syndromes2012

    • Author(s)
      Hiroyasu Tsukaguchi
    • Organizer
      The 8th Congress of Asian Society for Pediatric Research Mini-symposium in Nephrology
    • Place of Presentation
      Seoul Korea
    • Related Report
      2011 Final Research Report
  • [Presentation] Narita I Genome-wide Linkage Scan of Japanese Families with IgA Nephropathy2011

    • Author(s)
      Goto S, Tsukaguchi H, Wada M
    • Organizer
      44th Annual Meeting American Society of Nephrology
    • Place of Presentation
      Philadelphia
    • Year and Date
      2011-11-12
    • Related Report
      2011 Final Research Report
  • [Presentation] Genome-wide Linkage Scan of Japanese Families with IgA Nephropathy2011

    • Author(s)
      Goto S, Tsukaguchi H, et al
    • Organizer
      44th Annual Meeting American Society of Nephrology
    • Place of Presentation
      Philadelphia
    • Year and Date
      2011-11-12
    • Related Report
      2011 Annual Research Report
  • [Presentation] Galloway-Mowat症候群(脳・腎糸球体異形成)のエクソーム解析2011

    • Author(s)
      塚口裕康、仲里仁史、森貞直哉、服部元史、伊藤秀一、小崎里華、飯島一誠
    • Organizer
      第55回日本人類遺伝学会
    • Place of Presentation
      千葉・幕張
    • Year and Date
      2011-11-10
    • Related Report
      2011 Final Research Report
  • [Presentation] Galloway-Mowat症候群(脳・腎糸球体異形成)のエクソーム解析2011

    • Author(s)
      塚口裕康
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      千葉・幕張メッセ国際会議場
    • Year and Date
      2011-11-10
    • Related Report
      2011 Annual Research Report
  • [Presentation] 家族性IgA腎症の遺伝解析2010

    • Author(s)
      後藤眞, 和田真一, 塚口裕康, 福田陽子, 坂爪実, 辻省次, 成田一衛
    • Organizer
      第53回日本腎臓学会学術集会・総会
    • Place of Presentation
      神戸国際会議場
    • Year and Date
      2010-06-18
    • Related Report
      2010 Annual Research Report
  • [Presentation] ネフローゼ症候群疾患遺伝子研究の最近の知見-ポドサイト遺伝子変異の重要2009

    • Author(s)
      塚口裕康
    • Organizer
      日本腎臓学会
    • Place of Presentation
      パシフィコ横浜
    • Year and Date
      2009-06-03
    • Related Report
      2009 Annual Research Report
  • [Book] 「腎疾患治療マニュアル2012-2013」腎性尿崩症腎と透析2012

    • Author(s)
      塚口裕康
    • Publisher
      東京医学社
    • Related Report
      2011 Final Research Report
  • [Book] 「腎臓症候群第2版上巻」V.先天性遺伝性疾患Galloway-Mowat症候群2012

    • Author(s)
      塚口裕康
    • Publisher
      日本臨床社
    • Related Report
      2011 Final Research Report
  • [Book] 腎臓症候群第2版上V.先天性遺伝性疾患(分担執筆)2012

    • Author(s)
      塚口裕康
    • Publisher
      日本臨床社
    • Related Report
      2011 Annual Research Report

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Published: 2009-04-01   Modified: 2016-04-21  

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