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2012 Fiscal Year Final Research Report

Genome tailor-made evaluation of gout risk by molecular epidemiologic analysis toward early prevention of gout

Research Project

  • PDF
Project/Area Number 22689021
Research Category

Grant-in-Aid for Young Scientists (A)

Allocation TypeSingle-year Grants
Research Field Hygiene
Research InstitutionNational Defense Medical College

Principal Investigator

MATSUO Hirotaka  防衛医科大学校, 医学教育部医学科専門課程, 講師 (00528292)

Project Period (FY) 2010 – 2012
Keywords分子遺伝疫学 / 予防医学 / 個人差医療 / 尿酸 / 遺伝統計学 / 個人差医療に基づく予防医学
Research Abstract

In this study, we collected genome samples and clinical information from gout/hyperuricemia cases and controls. As a case only study, we genotyped 644 hyperuricemia patients for ABCG2 dysfunctional variants, which revealed that “decrease of extra-renal urate excretion is a common cause of hyperuricemia”(Nature Communications, 2012). In addition, a genome wide association study of gout is also ongoing with the support of the Grant-in-Aid for Scientific Research on Innovative Areas ”Genome Sciences”. So far, we obtained several positive data by preliminary analysis, and we convince ourselves that we will report on the important gout susceptible genes soon.

  • Research Products

    (68 results)

All 2013 2012 2011 2010

All Journal Article (7 results) (of which Peer Reviewed: 7 results) Presentation (42 results) Book (19 results)

  • [Journal Article] Decreased extra-renal urate excretion is a common cause of hyperuricemia2012

    • Author(s)
      Ichida K, Matsuo H
    • Journal Title

      Nat Commun

      Volume: Vol.3 Pages: 764

    • Peer Reviewed
  • [Journal Article] L:-Leucine induces growth arrest and persistent ERK activation in glioma cells2012

    • Author(s)
      Takeuchi S
    • Journal Title

      Amino Acids

      Volume: Vol.43、No.2 Pages: 717-724

    • Peer Reviewed
  • [Journal Article] Kawamura Y, Matsuo H他 Pathogenic GLUT9 Mutations Causing Renal Hypouricemia Type 2 (RHUC2)2011

    • Author(s)
      Kawamura Y, Matsuo H
    • Journal Title

      Nucleosides Nucleotides Nucleic Acids

      Volume: Vol.30、No.12 Pages: 1105-1111

    • Peer Reviewed
  • [Journal Article] ABCG2 is a high-capacity urate transporter and its genetic impairment increases serum uric acid levels in humans2011

    • Author(s)
      Nakayama A, Matsuo H
    • Journal Title

      Nucleosides Nucleotides Nucleic Acids

      Volume: Vol.30、No.12 Pages: 1091-1097

    • Peer Reviewed
  • [Journal Article] Identification of ABCG2 dysfunction as a major factor contributing to gout2011

    • Author(s)
      Matsuo H
    • Journal Title

      Nucleosides Nucleotides Nucleic Acids

      Volume: Vol.30、No.12 Pages: 1098-1104

    • Peer Reviewed
  • [Journal Article] ABCG2/BCRP dysfunction as a major cause of gout2011

    • Author(s)
      Matsuo H
    • Journal Title

      Nucleosides Nucleotides Nucleic Acids

      Volume: Vol.30、No.12 Pages: 1117-1128

    • Peer Reviewed
  • [Journal Article] Significant association of serum uric acid levels with SLC2A9 rs11722228 among a Japanese population2011

    • Author(s)
      Hamajima N
    • Journal Title

      Mol Genet Metab

      Volume: Vol.103、No.4 Pages: 378-382

    • Peer Reviewed
  • [Presentation] Decreased urate excretion from intestine is a common cause of hyperuricemia. 腸管における尿酸排泄の低下は高尿酸血症の新規機序である2013

    • Author(s)
      松尾洋孝
    • Organizer
      第90回日本生理学会大会
    • Place of Presentation
      東京(学会賞受賞)
    • Year and Date
      20130327-29
  • [Presentation] 尿酸の腸管排泄低下は高尿酸血症の主要な新規機序である2013

    • Author(s)
      市田公美、松尾洋孝
    • Organizer
      日本消化器学会第99回総会
    • Place of Presentation
      鹿児島
    • Year and Date
      20130321-23
  • [Presentation] ABCG2の機能低下による腎外の尿酸排泄低下:高尿酸血症の症例解析と動物モデル解析2013

    • Author(s)
      松尾洋孝
    • Organizer
      第46回日本痛風・核酸代謝学会総会
    • Place of Presentation
      東京
    • Year and Date
      20130214-15
  • [Presentation] 腎性低尿酸血症の実態把握調査について(第1報)2013

    • Author(s)
      中山昌喜、松尾洋孝
    • Organizer
      第46回日本痛風・核酸代謝学会総会
    • Place of Presentation
      東京
    • Year and Date
      20130214-15
  • [Presentation] ABCG2遺伝子タイピングに基づく高尿酸血症における新規病型分類の提唱2013

    • Author(s)
      高田雄三、松尾洋孝
    • Organizer
      第23回生物試料分析科学学会年次集会
    • Place of Presentation
      大阪
    • Year and Date
      20130210-11
  • [Presentation] 痛風病因遺伝子ABCG2の解析による高尿酸血症の新規病態の解明2013

    • Author(s)
      松尾洋孝
    • Organizer
      第23回日本疫学会
    • Place of Presentation
      大阪
    • Year and Date
      20130124-26
  • [Presentation] 痛風病因遺伝子ABCG2の変異が血清尿酸値におよぼす影響2013

    • Author(s)
      中山昌喜、松尾洋孝、高田雄三、中島宏、佐藤弘樹、中村好宏、森厚嘉、内藤真理子、菱田朝陽、若井建志、清水聖子、及川雄二、丹羽和紀、櫻井裕、市田公美、浜島信之、四ノ宮成祥
    • Organizer
      第23回日本疫学会
    • Place of Presentation
      大阪
    • Year and Date
      20130124-26
  • [Presentation] 全自動SNPタイピング装置を利用した痛風の遺伝子タイピング2012

    • Author(s)
      高田雄三、松尾洋孝
    • Organizer
      日本DNA多型学会第21回学術集会
    • Place of Presentation
      京都
    • Year and Date
      20121107-09
  • [Presentation] Common dysfunctional variants of ABCG2 decrease extra-renal urate excretion and cause hyperuricemia2012

    • Author(s)
      Matsuo H
    • Organizer
      2012 American Society of Human Genetics 62nd Annual Meeting
    • Place of Presentation
      San Francisco, USA
    • Year and Date
      20121106-10
  • [Presentation] ABCG2遺伝子変異に基づく高尿酸血症の病態解明と新規病型分類2012

    • Author(s)
      松尾洋孝
    • Organizer
      日本人類遺伝学会第57回大会
    • Place of Presentation
      東京
    • Year and Date
      20121025-27
  • [Presentation] ABCG2機能低下による「腎外排泄低下型」高尿酸血症2012

    • Author(s)
      中山昌喜、松尾洋孝
    • Organizer
      日本薬理学会関東部会
    • Place of Presentation
      東京
    • Year and Date
      20121020-27
  • [Presentation] 生薬からの尿酸トランスポーターURAT1阻害物質の探索2012

    • Author(s)
      中山昌喜, 松尾洋孝
    • Organizer
      日本生薬学会第59回年会
    • Place of Presentation
      千葉
    • Year and Date
      20120917-18
  • [Presentation] Influence of ABCG2 dysfunction on uric acid excretion pathways2012

    • Author(s)
      Kimiyoshi Ichida, Hirotaka Matsuo
    • Organizer
      European Human Genetics Conference 2012
    • Place of Presentation
      Nurnberg, Germany
    • Year and Date
      20120623-26
  • [Presentation] Genetic analysis of paroxysmal dystonic choreoathetosis (PDC/PNKD); Patient and hamster model study2012

    • Author(s)
      Matsuo H
    • Organizer
      the 16th International Congress of Parkinson's Disease and Movement Disorders
    • Place of Presentation
      Dublin, Ireland
    • Year and Date
      20120617-21
  • [Presentation] 高尿酸血症の新たな発症機序の解明: ABCG2の機能低下による腸管からの尿酸排泄低下2012

    • Author(s)
      内海由貴、松尾洋孝
    • Organizer
      第7回日本トランスポーター研究会年会
    • Place of Presentation
      京都
    • Year and Date
      20120609-10
  • [Presentation] ABCG2/BCRPによる腸管への尿酸排泄の低下は腎外排泄低下型高尿酸血症を引き起こす2012

    • Author(s)
      高田龍平、市田公美、松尾洋孝
    • Organizer
      日本薬剤学会第25年会
    • Place of Presentation
      神戸
    • Year and Date
      20120524-26
  • [Presentation] 痛風リスク遺伝子検査法の確立2012

    • Author(s)
      高田雄三, 松尾洋孝
    • Organizer
      第22回生物試料分析科学会年次学術集会
    • Place of Presentation
      福岡
    • Year and Date
      20120310-11
  • [Presentation] Genotyping ABCG2 to estimate gout risk- for practical use in the clinical setting2012

    • Author(s)
      Matsuo H
    • Organizer
      4th Federation of European Biochemical Societies (FEBS) special meeting on ATP-Binding Cassette (ABC) Proteins (ABC2012)
    • Place of Presentation
      Innsbruck, Austria
    • Year and Date
      20120303-09
  • [Presentation] 実用化に向けた痛風リスク遺伝子タイピング2012

    • Author(s)
      高田雄三, 松尾洋孝
    • Organizer
      第9回臨床福祉研究学術集会
    • Place of Presentation
      東京
    • Year and Date
      20120225-26
  • [Presentation] 痛風病因遺伝子ABCG2の変異と血清尿酸値との関連2012

    • Author(s)
      中山昌喜, 松尾洋孝
    • Organizer
      第22回日本疫学会学術総会
    • Place of Presentation
      東京
    • Year and Date
      20120126-28
  • [Presentation] 痛風遺伝子ABCG2の迅速診断法の確立2012

    • Author(s)
      佐々木裕明, 高田雄三, 松尾洋孝
    • Organizer
      第57回防衛衛生学会
    • Place of Presentation
      東京
    • Year and Date
      2012-02-02
  • [Presentation] High Resolution Melting法によるABCG2遺伝子のSNPタイピング2011

    • Author(s)
      高田雄三, 松尾洋孝
    • Organizer
      日本DNA多型学会 第20回学術集会
    • Place of Presentation
      横浜
    • Year and Date
      20111201-02
  • [Presentation] Gout is caused by common dysfunctional variants of ABCG2/BCRP2011

    • Author(s)
      Matsuo H
    • Organizer
      BioMedical Transporters 2011
    • Place of Presentation
      Grindelwald, Switzerland
    • Year and Date
      20110807-11
  • [Presentation] ABCG2 is a major causative gene for gout2011

    • Author(s)
      Matsuo H
    • Organizer
      The 1st Symposium of Asia Pacific League of Associations for Rheumatology (APLAR)
    • Place of Presentation
      Taipei, Taiwan(Young Investigator Award受賞)
    • Year and Date
      20110415-17
  • [Presentation] ABCG2/BCRP dysfunction as a major cause for gout2011

    • Author(s)
      Matsuo H
    • Organizer
      14th International Symposium on Purine and Pyrimidine Metabolism in Man, PP11
    • Place of Presentation
      Tokyo
    • Year and Date
      20110218-21
  • [Presentation] Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2)2011

    • Author(s)
      Kawamura Y, Matsuo H
    • Organizer
      14th International Symposium on Purine and Pyrimidine Metabolism in Man, PP11
    • Place of Presentation
      Tokyo
    • Year and Date
      20110218-21
  • [Presentation] ABCG2 is a high-capacity urate transporter and its genetic impairment increase serum uric acid levels in humans2011

    • Author(s)
      Nakayama A, Matsuo H
    • Organizer
      14th International Symposium on Purine and Pyrimidine Metabolism in Man, PP11
    • Place of Presentation
      Tokyo(国際学会賞・受賞)
    • Year and Date
      20110218-21
  • [Presentation] Identification of ABCG2 dysfunction as a major cause for gout2011

    • Author(s)
      Matsuo H
    • Organizer
      14th International Symposium on Purine and Pyrimidine Metabolism in Man, PP11
    • Place of Presentation
      Tokyo
    • Year and Date
      20110218-21
  • [Presentation] 痛風・高尿酸血症の主要病因遺伝子の同定と病態の解明2011

    • Author(s)
      松尾洋孝
    • Organizer
      東京大学医学部附属病院腎臓・内分泌内科リサーチカンファランス
    • Place of Presentation
      東京
    • Year and Date
      2011-11-29
  • [Presentation] 尿酸排泄トランスポーターABCG2/BCRP:痛風の主要病因と個人裁量の展望2011

    • Author(s)
      松尾洋孝
    • Organizer
      金沢大学薬学シンポジウム2011 ?創薬動態フォーラムin金沢
    • Place of Presentation
      金沢
    • Year and Date
      2011-07-29
  • [Presentation] 痛風の主要病因遺伝子ABCG2/BCRPの解明とオーダーメイド医療の可能性2011

    • Author(s)
      松尾洋孝
    • Organizer
      流山市医師会学術講演会
    • Place of Presentation
      流山
    • Year and Date
      2011-06-15
  • [Presentation] ABCG2/BCRP encodes a high-capacity urate transporter and its common variant increases serum uric acid levels in humans2010

    • Author(s)
      Inoue H, Matsuo H
    • Organizer
      American Society of Human Genetics Annual Meeting
    • Place of Presentation
      Washington DC, USA
    • Year and Date
      20101102-06
  • [Presentation] ABCG2/BCRP as a major causative gene for gout2010

    • Author(s)
      Matsuo H
    • Organizer
      2010 American Society of Human Genetics Annual Meeting
    • Place of Presentation
      Washington DC, USA
    • Year and Date
      20101102-06
  • [Presentation] シンポジウム; 疾患の原因そして治療の標的分子としてのトランスポーター, Idetification of ABCG2/BCRP as major cause for gout2010

    • Author(s)
      Matsuo H
    • Organizer
      日本薬物動態学会第25回年会
    • Place of Presentation
      東京
    • Year and Date
      20101007-09
  • [Presentation] hypouricemia type 22010

    • Author(s)
      Kawamura Y, Matsuo H
    • Organizer
      Gordon Research Conferences on Membrane Transport Proteins
    • Place of Presentation
      Biddeford, ME, USA
    • Year and Date
      20100815-20
  • [Presentation] ABCG2/BCRP is a high-capacity urate transporter and its common variant increases serum uric acid levels in humans2010

    • Author(s)
      Nakayama A, Matsuo H
    • Organizer
      Gordon Research Conference on Membrane Transport Proteins
    • Place of Presentation
      Biddeford, ME, USA
    • Year and Date
      20100815-20
  • [Presentation] Common variants of ABCG2/BCRP cause gout2010

    • Author(s)
      Matsuo H
    • Organizer
      Gordon Research Conference on Membrane Transport Proteins
    • Place of Presentation
      Biddeford, ME, USA
    • Year and Date
      20100815-20
  • [Presentation] ABCG2/BCRPは痛風の主要な病因遺伝子である2010

    • Author(s)
      中山昌喜, 松尾洋孝
    • Organizer
      第5回トランスポーター研究会年会
    • Place of Presentation
      東京(最優秀発表賞・受賞)
    • Year and Date
      20100710-11
  • [Presentation] 痛風の主要原因遺伝子ABCG2の同定2010

    • Author(s)
      松尾洋孝
    • Organizer
      第15回千葉尿酸懇話会
    • Place of Presentation
      千葉
    • Year and Date
      2010-11-25
  • [Presentation] シンポジウム; トランスポーター研究から生活習慣病克服を目指す, 生活習慣病発症に関わる尿酸トランスポーター ~ゲノムワイド解析後の新展開~2010

    • Author(s)
      松尾洋孝
    • Organizer
      第64回日本栄養・食糧学会大会
    • Place of Presentation
      徳島
    • Year and Date
      2010-05-23
  • [Presentation] 痛風遺伝子の解明とオーダーメイド医療の可能性~生活習慣病で初の主要病因遺伝子~2010

    • Author(s)
      松尾洋孝
    • Organizer
      第1回 所沢生活習慣病研究会
    • Place of Presentation
      川越
    • Year and Date
      2010-05-17
  • [Presentation] 痛風原因遺伝子の解明2010

    • Author(s)
      松尾洋孝
    • Organizer
      第1回 佐賀尿酸研究会
    • Place of Presentation
      佐賀
    • Year and Date
      2010-04-01
  • [Book] ABCG2と高尿酸血症高尿酸血症と痛風2013

    • Author(s)
      中山昌喜, 松尾洋孝
    • Total Pages
      43-8
    • Publisher
      メディカルレビュー社
  • [Book] 一週一話2013

    • Author(s)
      高田龍平, 松尾洋孝
    • Total Pages
      48-9
    • Publisher
      日本医事新報社
  • [Book] 尿酸動態の支配要因としての尿酸トランスポーター2012

    • Author(s)
      松尾洋孝
    • Total Pages
      553-7
    • Publisher
      細胞工学
  • [Book] 日本臨床2012

    • Author(s)
      千葉俊周,松尾洋孝
    • Total Pages
      807-11
    • Publisher
      遺伝性腎性低尿酸血症
  • [Book] 腎と透析2012

    • Author(s)
      千葉俊周,松尾洋孝
    • Total Pages
      301-4
  • [Book] 腎疾患治療マニュアル2012-132012

    • Author(s)
      中山昌喜, 松尾洋孝
    • Total Pages
      370-3
  • [Book] Annual Review 糖尿病・代謝・内分泌.腎性低尿酸血症の遺伝学2012

    • Author(s)
      松尾洋孝
    • Total Pages
      145-154
    • Publisher
      中外医薬社
  • [Book] 臨床医のための高尿酸血症・痛風のABC2012

    • Author(s)
      松尾洋孝
    • Total Pages
      84-86
  • [Book] 尿酸2011

    • Author(s)
      松尾洋孝
    • Total Pages
      16-22
  • [Book] 痛風・高尿酸血症の原因遺伝子(ABCG2)2011

    • Author(s)
      高田雄三,松尾洋孝
    • Total Pages
      884-886
    • Publisher
      Medical Technology
  • [Book] 尿酸排出トランスポーターABCG2/BCRPと痛風発症リスク. 生化学2011

    • Author(s)
      高田雄三,松尾洋孝
    • Total Pages
      1131-1134
  • [Book] 第7章 尿酸のトランスポーター. 栄養・食品機能とトランスポーター2011

    • Author(s)
      松尾洋孝
    • Total Pages
      145-166
    • Publisher
      建帛社
  • [Book] 遺伝子医学MOOK2011

    • Author(s)
      松尾洋孝
    • Total Pages
      116-125
  • [Book] 尿酸輸送. トランスポートソームの世界 -膜輸送研究の源流から未来へ-2011

    • Author(s)
      松尾洋孝
    • Total Pages
      179-191
    • Publisher
      京都廣川書店
  • [Book] Annual Review 腎臓 20102010

    • Author(s)
      松尾洋孝
    • Total Pages
      9-20
    • Publisher
      中外医薬社
  • [Book] 痛風の病因遺伝子. 痛風と核酸代謝2010

    • Author(s)
      松尾洋孝
    • Total Pages
      159-169
  • [Book] 痛風の主要な病因遺伝子ABCG2の同定. 実験医学2010

    • Author(s)
      松尾洋孝
    • Total Pages
      1285-1289
    • Publisher
      羊土社
  • [Book] 遺伝要因. 内科系総合雑誌Modern Physician2010

    • Author(s)
      中山昌喜, 松尾洋孝
    • Total Pages
      1385-1388
    • Publisher
      新興医学出版社
  • [Book] 痛風の遺伝子. リウマチ科2010

    • Author(s)
      中山昌喜, 松尾洋孝
    • Total Pages
      689-694
    • Publisher
      科学評論社

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Published: 2014-08-29  

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