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Study for the Genetics of diabetes mellitus and its complications with one large hospital based cohort

Research Project

Project/Area Number 19590338
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Human genetics
Research InstitutionTokyo Women's Medical University

Principal Investigator

IWASAKI Naoko  Tokyo Women's Medical University, 医学部, 准教授 (70203370)

Co-Investigator(Kenkyū-buntansha) KITANO Shigehiko  東京女子医科大学, 医学部, 教授 (30161483)
Project Period (FY) 2007 – 2008
Project Status Completed (Fiscal Year 2008)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2008: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2007: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Keywords2型糖尿病 / SNP / 感受性遺伝子 / 遺伝子多型 / 網膜症 / VEGF / MODY / 巨大欠失 / 全ゲノム解析 / ポジショナルクローニング / siRNA / マイクロアレイ / MafA / 糖尿病網膜症 / VEGF遺伝子 / 2型糖尿病感受性遺伝子 / 薬剤応答遺伝子 / HNF-4α / large deletion
Research Abstract

罹患同胞対法全ゲノム解析により、21番染色体上に2型糖尿病の感受性領域を同定し、2003年に報告した。同領域の原因遺伝子/SNPの同定を継続し、2008年に新規の糖尿病感受性SNPを同定した。2型糖尿病1668人対正常者1700人でOR=1.76(1.37-2.25)、p<1.5x10-6であり、多数例での再現性が確認できた。また、網膜症の感受性SNPとしてVEGF遺伝子2578多型を同定し、特許出願中である。さらに日本で1例目の巨大欠失によるMODY5例を同定し報告した。さらにエクソン欠失例も見出し報告した。

Report

(3 results)
  • 2008 Annual Research Report   Final Research Report ( PDF )
  • 2007 Annual Research Report
  • Research Products

    (38 results)

All 2009 2008 2007 Other

All Journal Article (9 results) (of which Peer Reviewed: 8 results) Presentation (24 results) Book (2 results) Patent(Industrial Property Rights) (3 results)

  • [Journal Article] Impact of variants in the VEGF gene on progression of proliferative diabetic retinopathy2008

    • Author(s)
      Nakamura S, Iwasaki N, Funatsu H, Kitano S, Iwamoto Y
    • Journal Title

      Graefes Arch Clin Exp Opthalmol 247

      Pages: 21-26

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Multistage genome-wide SNP association study revealed KCNQ1 as a novel susceptibility gene for type 2 diabetes mellitus in multiple ethnic groups : a report of the Millennium Genome Project of Japan2008

    • Author(s)
      Yasuda K, Iwasaki N, et.al.
    • Journal Title

      Nature Genet 40

      Pages: 1092-1097

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Replication of genome-wide association studies of type 2 diabetes susceptibility in Japan2008

    • Author(s)
      Horikawa Y, Iwasaki N, et.al.
    • Journal Title

      J Clin Endoclinol Metab 93(8)

      Pages: 3136-41

    • Related Report
      2008 Final Research Report
    • Peer Reviewed
  • [Journal Article] Multistage genone-wide SNP association study revealed KCNQ1 as a novel susceptibility gene for type 2 diabetes mellitus in multiple ethnic groups : a report of the Millennium Genome Project of Japan2008

    • Author(s)
      Yasuda K, Miyake K, Hoikawa Y, Iwasaki N, Iwamoto Y, Makino H, Nanjo K, Kadowaki T, et al.
    • Journal Title

      Nature Genet 40

      Pages: 1092-1097

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Replication of genome-wide association studies of type 2 diabetes susceptibility in Japan2008

    • Author(s)
      Horikawa Y, Miyake K, Yasuda K, Enya M, Horita Y, Iwasaki N, Iwamoto Y, et al
    • Journal Title

      J Clin Endoclinol Metab 93

      Pages: 3136-41

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association of TCF7L2 polymorphisms with susceptibility to type2 diabetes in 4, 087 Japanese subjects2008

    • Author(s)
      Miyake K, Horikawa Y, Hara K, Yasuda K, Osawa H, Furuta H, Yamagata K, Hinokio Y, Iwasaki N, Iwamoto Y, et al.
    • Journal Title

      J Hum Genet 53

      Pages: 174-180

    • NAID

      10021248002

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Impact of variants in the VEGF gene on progression of proliferative diabetic retinopathy2008

    • Author(s)
      Nakamura S, Iwasaki N, Funatsu H, Kitano S, Iwamoto Y.
    • Journal Title

      Graefes Arch Clin Exp Opthalmol 247

      Pages: 21-26

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association of TCF7L2 polymorphisms with susceptibility to type 2 diabetes in 4,087 Japanese subjects2008

    • Author(s)
      Kazuaki Miyake, Yukio Horikawa, Naoko Iwasaki, et. al.
    • Journal Title

      Journal of Human Genetics 53

      Pages: 174-180

    • NAID

      10021248002

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association of TCF7L2 polymorphisms with susceptibility to type 2 diabetes in 4,087 Japanese subjects

    • Author(s)
      Miyake K, Iwasaki N, et.al.
    • Journal Title

      J Hum Genet

    • NAID

      10021248002

    • Related Report
      2008 Final Research Report
  • [Presentation] 全ゲノム連鎖解析結果に基づいた新規2型糖尿病感受性遺伝子の同定2009

    • Author(s)
      岩〓直子、岡本好司、他
    • Organizer
      第52 回日本糖尿病学会年次学術集会シンポジウム5「2 型糖尿病関連遺伝子はどこまで解明されたか」
    • Place of Presentation
      大阪
    • Year and Date
      2009-05-23
    • Related Report
      2008 Final Research Report
  • [Presentation] A novel susceptible gene to type 2 diabetes on chromosome 21 as a new target for the treatment2009

    • Author(s)
      Iwasaki N, Okamoto K, Takizawa M, Ogata M, et.al.
    • Organizer
      The 2nd European Association for the Study of Diabetes - Study Group for Genetics of Diabetes Meeting
    • Place of Presentation
      Bergen, Norway
    • Related Report
      2008 Final Research Report
  • [Presentation] Hepatocyte nuclear factor-1β遺伝子欠損を認めたM0DY52008

    • Author(s)
      岩崎直子, 尾形真規子, 藤巻理沙, 滝澤美保, 岩本安彦
    • Organizer
      日本人類遺伝学会第53回大会
    • Place of Presentation
      横浜
    • Year and Date
      2008-09-30
    • Related Report
      2008 Annual Research Report
  • [Presentation] OCT-1遺伝子多型によるメトフォルミン感受性2008

    • Author(s)
      滝澤美保, 岩崎直子, 尾形真規子, 山本俊至, 岩本安彦
    • Organizer
      日本人類遺伝学会第53回大会
    • Place of Presentation
      横浜
    • Year and Date
      2008-09-30
    • Related Report
      2008 Annual Research Report
  • [Presentation] Hepatocyte nuclear factor-1・遺伝子欠損を認めたMODY52008

    • Author(s)
      岩〓直子、尾形真規子、藤巻理沙、滝澤美保、岩本安彦
    • Organizer
      第51回日本糖尿病学会総会
    • Place of Presentation
      東京
    • Year and Date
      2008-05-22
    • Related Report
      2008 Final Research Report
  • [Presentation] 抗酸化作用に関連するMn-SOD遺伝子多型V16Aと糖尿病網膜症の検討2008

    • Author(s)
      中村新子、岩〓直子、他
    • Organizer
      第51回日本糖尿病学会総会
    • Place of Presentation
      東京
    • Year and Date
      2008-05-22
    • Related Report
      2008 Final Research Report
  • [Presentation] Hepatocyte nuclear factor-1・遺伝子欠損を認めたMODY52008

    • Author(s)
      岩〓直子、尾形真規子、藤巻理沙、滝澤美保、岩本安彦
    • Organizer
      日本人類遺伝学会第53 回大会
    • Place of Presentation
      横浜
    • Related Report
      2008 Final Research Report
  • [Presentation] Deletion of the whole gene deletion mutation of the HNF-1・gene in Japanese Patients with MODY2008

    • Author(s)
      Iwasaki N, Yamamoto T, Watanabe J, et.al.
    • Organizer
      44rd Annual Meeting of European Association for Study of Diabetes
    • Place of Presentation
      Roma
    • Related Report
      2008 Final Research Report
  • [Presentation] Deletion of the whole gene deletion mutation of the HNF-1β gene in Japanese Patients with MODY2008

    • Author(s)
      Iwasaki N, Yamamoto T, Watanabe J, Ogata M, Takizawa M, Iwamoto Y
    • Organizer
      44rd Annual Meeting of European Association for Study of Diabetes
    • Place of Presentation
      Rome, Italy
    • Related Report
      2008 Annual Research Report
  • [Presentation] Q268X, truncated mutant of HNF-4a causing MODY1, hasnucleus-targeting ability and can bind with wild-type HNF-4a or its repressor SHP abd accumulate them to the nucleus in cultured cells2008

    • Author(s)
      Ogata M, Awaji T, Iwasaki N, Bell GI, Miyazaki S, Iwamoto Y
    • Organizer
      44rd Annual Meeting of European Association for Study of Diabetes
    • Place of Presentation
      Rome, Italy
    • Related Report
      2008 Annual Research Report
  • [Presentation] メトフォルミンの治療効果とOrganidc Cation Transporter-1遺伝子多型の関連2008

    • Author(s)
      滝沢美保, 岩崎直子, 藤巻理沙, 尾形真規子, 富岡光枝, 吉永陽子, 岩本安彦
    • Organizer
      第51回日本糖尿病学会総会
    • Place of Presentation
      東京
    • Related Report
      2008 Annual Research Report
  • [Presentation] 抗酸化作用に関連するMn-SOD遺伝子V16A多型と糖尿病網膜症の検討2008

    • Author(s)
      中村新子, 岩崎直子, 尾形真規子, 北野滋彦, 岩本安彦
    • Organizer
      第51回日本糖尿病学会総会
    • Place of Presentation
      東京
    • Related Report
      2008 Annual Research Report
  • [Presentation] 培養膵β細胞を用いたミトコンドリア機能の継時的定量評価の検討2008

    • Author(s)
      尾形真規子, 淡路健雄, 岩崎直子, 富岡光枝, 苅部幸代, 宮崎俊一, 岩本安彦
    • Organizer
      第51回日本糖尿病学会総会
    • Place of Presentation
      東京
    • Related Report
      2008 Annual Research Report
  • [Presentation] Hepatocyte nuclear factor- 1β遺伝子欠損を認めたM0DY52008

    • Author(s)
      岩崎直子, 尾形真規子, 藤巻理沙, 滝澤美保, 岩本安彦
    • Organizer
      第51回日本糖尿病学会総会
    • Place of Presentation
      東京
    • Related Report
      2008 Annual Research Report
  • [Presentation] Hepatocyte nuclear factor-1・遺伝子欠損を認めたMODY52007

    • Author(s)
      岩〓直子、尾形真規子、ほか
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Year and Date
      2007-09-14
    • Related Report
      2008 Final Research Report
  • [Presentation] メトホルミンの治療効果とOrganic cation transporter-1・遺伝子多型の関連2007

    • Author(s)
      滝澤美保、岩〓直子、ほか
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Year and Date
      2007-09-14
    • Related Report
      2008 Final Research Report
  • [Presentation] Hepatocyte nuclear factor-1β遺伝子欠損を認めたMODY52007

    • Author(s)
      岩崎直子, 他
    • Organizer
      日本人類遺伝学会第52回大会
    • Place of Presentation
      東京
    • Year and Date
      2007-09-14
    • Related Report
      2007 Annual Research Report
  • [Presentation] Association study based on the genome wide linkage results revealed two genes on chromosome 21 in type 2 diabetic subjects in Japanese2007

    • Author(s)
      Naoko Iwasaki, et. al.
    • Organizer
      67th American Diabetes Association Annual Meeting Scientific Session
    • Place of Presentation
      Chicago, USA
    • Year and Date
      2007-06-22
    • Related Report
      2007 Annual Research Report
  • [Presentation] 2型糖尿病におけるMafA遺伝子多型の検討2007

    • Author(s)
      岩崎直子, 他
    • Organizer
      第50日本糖尿病学会
    • Place of Presentation
      仙台
    • Year and Date
      2007-05-26
    • Related Report
      2007 Annual Research Report
  • [Presentation] 関連解析によって得られた21番染色体上の2型糖尿病感受性遺伝子2007

    • Author(s)
      岡本好司、岩崎直子、他
    • Organizer
      第50日本糖尿病学会
    • Place of Presentation
      仙台
    • Year and Date
      2007-05-26
    • Related Report
      2007 Annual Research Report
  • [Presentation] HNF4α変異蛋白の生細胞内機能の検討2007

    • Author(s)
      尾形真規子、岩崎直子、他
    • Organizer
      第50日本糖尿病学会
    • Place of Presentation
      仙台
    • Year and Date
      2007-05-26
    • Related Report
      2007 Annual Research Report
  • [Presentation] 糖尿病網膜症に関与するVEGF遺伝子多型を有する症例の予後調査2007

    • Author(s)
      中村新子、岩崎直子、他
    • Organizer
      第50日本糖尿病学会
    • Place of Presentation
      仙台
    • Year and Date
      2007-05-26
    • Related Report
      2007 Annual Research Report
  • [Presentation] Detection of genomic rearrangements of MODY gene in Japanese patient

    • Author(s)
      Takizawa M, Iwasaki N, Yamamoto T, et.al
    • Organizer
      2)と同一の学会
    • Related Report
      2008 Final Research Report
  • [Presentation] Q268X, truncated mutant of HNF-4a causing MODY1, has nucleus-targeting ability and can bind with wild-type HNF-4a or its repressor SHP and accumulate them to the nucleus in cultured cells

    • Author(s)
      Ogata M, Awaji T, Iwasaki N, Bell GI, Miyazaki S, Iwamoto Y
    • Organizer
      5)と同一の学会
    • Related Report
      2008 Final Research Report
  • [Book] 2型糖尿病遺伝子 p311-314「カラー版糖尿病学 基礎と臨床」2007

    • Author(s)
      岩崎直子(分担執筆)
    • Total Pages
      1373
    • Publisher
      西村書店
    • Related Report
      2007 Annual Research Report
  • [Book] 2型糖尿病遺伝子 p:121-126「糖尿病学の療養指導2007 療養指導士を育てるために」2007

    • Author(s)
      岩崎直子(分担執筆)
    • Total Pages
      210
    • Publisher
      診断と治療社
    • Related Report
      2007 Annual Research Report
  • [Patent(Industrial Property Rights)] 糖尿病発症及び/又は進展リスクの判定方法2008

    • Inventor(s)
      徳永勝士 岩崎直子 岡本好司 鎌谷直之
    • Industrial Property Rights Holder
      徳永勝士 岩崎直子 岡本好司 鎌谷直之
    • Industrial Property Number
      2008-316595
    • Filing Date
      2008-12-12
    • Related Report
      2008 Annual Research Report
  • [Patent(Industrial Property Rights)] VEGF遺伝子SNPの網膜症進展リスク診断

    • Related Report
      2008 Final Research Report
  • [Patent(Industrial Property Rights)] 新規糖尿病感受性遺伝子SNPによる日本人2型糖尿病の発症リスク診断

    • Related Report
      2008 Final Research Report

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Published: 2007-04-01   Modified: 2016-04-21  

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