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International collaborative research on the etiology for intractable kidney disease children in East Asia

Research Project

Project/Area Number 22406027
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section海外学術
Research Field Pediatrics
Research InstitutionKansai Medical University

Principal Investigator

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

Project Period (FY) 2010 – 2012
Project Status Completed (Fiscal Year 2012)
Budget Amount *help
¥18,460,000 (Direct Cost: ¥14,200,000、Indirect Cost: ¥4,260,000)
Fiscal Year 2012: ¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2011: ¥7,020,000 (Direct Cost: ¥5,400,000、Indirect Cost: ¥1,620,000)
Fiscal Year 2010: ¥7,930,000 (Direct Cost: ¥6,100,000、Indirect Cost: ¥1,830,000)
Keywords腎不全 / 疾患遺伝子 / ネフローゼ / ポドサイト / シークエンス / 難治性腎疾患 / エクソーム / 間質性腎炎 / 尿細管障害 / 連鎖解析 / ゲノム / 慢性腎臓病 / 腎尿細管
Research Abstract

Steroid-resistant nephrotic syndrome (SRNS) is a major cause of end-stage renal disease in children. More than 10 SRNS disease genes have been reported to date. However, there is a considerable ethnic difference in the prevalence of the genes. In particular, the molecular basis of early childhood onset SRNS in Asian is still largely unknown. The aim of this study was to identify the disease genes highly specific to Asians through international collaboration. The linkage mapping 16 Asian SRNS families of recessive inheritance revealed several candidate loci with HLOD scores>3.0, suggesting that multiple genes rather than a single major gene may be involved. In 4 autosomal-dominant types of SRNS families, we found INF2 mutations, which are reported to account for 10- 20 % of dominant SRNS in Caucasians and African Americans. Whole exome analysis is now being on progress to clarify the genes in other families in which genes are yet to be determined

Report

(4 results)
  • 2012 Annual Research Report   Final Research Report ( PDF )
  • 2011 Annual Research Report
  • 2010 Annual Research Report
  • Research Products

    (31 results)

All 2013 2012 2011 2010 Other

All Journal Article (9 results) (of which Peer Reviewed: 4 results) Presentation (16 results) (of which Invited: 3 results) Book (3 results) Remarks (3 results)

  • [Journal Article] INF2 mutationsin Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis.2013

    • Author(s)
      Toyota K, Ogino D, Hayashi M, Taki M, Saito K, Abe A, Hashimoto T, Umetsu K, Tsukaguchi H, Hayasaka K.
    • Journal Title

      J Peripher Nerv Syst.

      Volume: 18(1) Issue: 1 Pages: 97-98

    • DOI

      10.1111/jns5.12014

    • Related Report
      2012 Final Research Report
    • Peer Reviewed
  • [Journal Article] フォルミンINF2変異が同定された腎移植希望の家族性糸球体硬化症(FSGS)の1例2013

    • Author(s)
      山本準也,中沢大悟,塚口裕康,豊山貴之,佐藤亜樹子,中垣祐,石川康暢柴崎跡也,西尾妙織,渥美達也
    • Journal Title

      日内会誌

      Volume: 102 Pages: 1220-1222

    • Related Report
      2012 Final Research Report
  • [Journal Article] INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis.2013

    • Author(s)
      Toyota K, Ogino D, Hayashi M, Taki M, Saito K, Abe A, Hashimoto T, Umetsu K, Tsukaguchi H, Hayasaka K.
    • Journal Title

      J Peripher Nerv Syst.

      Volume: 18(1) Pages: 97-98

    • Related Report
      2012 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Methicillin-resistant Staphylococcus aureus-related glomerulonephritis in a child.2012

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

      Pediatr Nephrol.

      Volume: 27(11) Pages: 2149-2152

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
  • [Journal Article] ゲノムからみた慢性腎臓病の発症分子機序解明へのアプローチ2012

    • Author(s)
      塚口裕康
    • Journal Title

      細胞

      Volume: 44(5) Pages: 20-26

    • Related Report
      2012 Annual Research Report 2012 Final Research Report
  • [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
  • [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] 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(7) Pages: 914-923

    • NAID

      10029735540

    • Related Report
      2010 Annual Research Report
  • [Presentation] Narita I Exome sequencing identifies a novel EEA1 variant in Japanese familial IgA nephropathy (Abstr).2012

    • Author(s)
      Goto S, Hosomichi I, Tsukaguchi H, Inoue I
    • Organizer
      ASN Renal Week San Diego
    • Place of Presentation
      USA
    • Related Report
      2012 Final Research Report
  • [Presentation] 発達遅滞と無眼球症を主徴としたモ ザイク型 16 番染色体長腕トリソミーの一例2012

    • Author(s)
      塚口裕康、金子一成、木全貴久、佐 藤秀典
    • Organizer
      第57回日本人類遺伝学会
    • Place of Presentation
      京王プラザホテ ル
    • Related Report
      2012 Final Research Report
  • [Presentation] ネフローゼの原因遺伝子探索2012

    • Author(s)
      塚口裕康
    • Organizer
      第47回日本小児腎臓病学会招待教育講演
    • Place of Presentation
      都市センターホテル
    • Related Report
      2012 Final Research Report
  • [Presentation] 家族性優性遺伝巣状糸球体硬化症におけるフォルミンINF2変異の意義2012

    • Author(s)
      上田啓子,塚口裕康,日高義彦,中沢大悟,西尾沙織,鈴木信夫,岩田恭宣、飯田博行、岩坂壽二
    • Organizer
      第55回日本腎臓学会学術総会
    • Related Report
      2012 Final Research Report
  • [Presentation] 次世代シークエンサーを用いた腎臓病研究2012

    • Author(s)
      後藤眞,成田一衛、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総会会長主導企画シンポジウムパ
    • Place of Presentation
      シフィコ横浜
    • Related Report
      2012 Final Research Report
  • [Presentation] Molecular Genetics of Proteinuric Disorders2012

    • Author(s)
      Hiroyasu Tsukaguchi
    • Organizer
      8th Congress of Asian Society for PediatricResearch.
    • Place of Presentation
      Seoul, Korea
    • Related Report
      2012 Final Research Report
  • [Presentation] 遺伝性・症候性ネフローゼ症候群の遺伝子解析2012

    • Author(s)
      塚口裕康
    • Organizer
      第115回日本小児科学会シンポジウム招待講演
    • Place of Presentation
      福岡国際会議場
    • Related Report
      2012 Final Research Report
  • [Presentation] 遺伝性・症候性ネフローゼ症候群の遺伝子解析2012

    • Author(s)
      塚口裕康
    • Organizer
      第115回 日本小児科学会
    • Place of Presentation
      福岡国際会議場, 福岡
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] Molecular Genetics of Proteinuric Disorders2012

    • Author(s)
      Hiroyasu Tsukaguch
    • Organizer
      8th Congress of Asian Society for Pediatric Research
    • Place of Presentation
      Seoel, Korea
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] 次世代シークエンサーを用いた腎臓病研究2012

    • Author(s)
      後藤眞, 成田一衛、塚口裕康, 井ノ上逸朗,成田一衛
    • Organizer
      第55回 日本腎臓学会学術総会
    • Place of Presentation
      パシフィコ横浜, 神奈川
    • Related Report
      2012 Annual Research Report
  • [Presentation] ネフローゼの原因遺伝子探索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, 東京
    • Related Report
      2012 Annual Research Report
    • Invited
  • [Presentation] 発達遅滞と無眼球症を主徴としたモザイク型16番染色体長腕トリソミーの一例2012

    • Author(s)
      塚口裕康
    • Organizer
      第57回 日本人類遺伝学会
    • Place of Presentation
      京王プラザホテル, 東京
    • Related Report
      2012 Annual Research Report
  • [Presentation] Exome sequencing identifies a novel EEA1 variant in Japanese familial IgA nephropathy2012

    • Author(s)
      Goto S, Hosomichi I, Tsukaguchi H, Inoue I, Narita I
    • Organizer
      ASN Renal Week 2012
    • Place of Presentation
      San Diego, USA
    • Related Report
      2012 Annual 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
    • 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lgA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
  • [Book] Galloway-Mowat症候群(脳・腎糸球体異形成)別冊日本臨床腎臓症候群(上)2012

    • Author(s)
      塚口裕康
    • Related Report
      2012 Final Research Report
  • [Book] 別冊 日本臨床 腎臓症候群(上):Galloway-Mowat 症候群(脳・腎糸球体異形成)2012

    • Author(s)
      塚口裕康
    • Publisher
      日本臨床
    • Related Report
      2012 Annual 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
  • [Remarks] 腎尿路器系の稀少難治性疾患群に関する調査研究班

    • URL

      http://www.cis-trans.org/kobe_ku/research.html

    • Related Report
      2012 Final Research Report
  • [Remarks] 腎尿路器系の稀少難治性疾患群に関する調査研究班

    • URL

      http://www.med.kobe-u.ac.jp/sgridk/research_galloway_mowat.html

    • Related Report
      2012 Annual Research Report
  • [Remarks] 平成22年度成果報告書 厚生労働科学研究成果データベース

    • URL

      http://mhlw-grants.niph.go.jp/index.html;201024083A

    • Related Report
      2012 Annual Research Report

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

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