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2013 Fiscal Year Final Research Report

Search for novel MODY genes with exome sequencing

Research Project

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Project/Area Number 23591319
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Metabolomics
Research InstitutionWakayama Medical University

Principal Investigator

FURUTA Hiroto  和歌山県立医科大学, 医学部, 准教授 (90238684)

Project Period (FY) 2011 – 2013
Keywords糖尿病 / 遺伝因子 / MODY
Research Abstract

Maturity-onset diabetes of the young (MODY) is a diabetes characterized by an autosomal-dominant mode of inheritance and an onset before the age of 25 years. Although thirteen MODY genes have been reported, a major susceptibility gene in Japanese MODY families has not been identified. In this study, we determined susceptibility genes in 8 Japanese MODY families (p.T228M, p.G246R, p.C371Y and p.G446D in glucokinase, p.E274K in HNF-1A, p.R276H and p.S461I in HNF-1B, p.P1198L in ABCC8) with Sanger sequencing. Furthermore, we carried out whole-exome sequencing which is the targeted sequencing of the human genome region that is protein coding to identify a new susceptibility gene for MODY. We obtained 50 X median coverage of the entire targeted exome and found several rare non-synonymous variants co-segregated with diabetes in a MODY family.

  • Research Products

    (9 results)

All 2014 2013 2012

All Journal Article (5 results) (of which Peer Reviewed: 5 results) Presentation (4 results)

  • [Journal Article] Familial young-onset diabetes, pre-diabetes and cardiovascular disease are associated with genetic variants of DACH1 in Chinese2014

    • Author(s)
      Ma RC, Lee HM, Lam VK, Tam CH, Ho JS, Zhao HL, Guan J, Kong AP, Lau E, Zhang G, Luk A, Wang Y, Tsui SK, Chan TF, Hu C, Jia WP, Park KS, Lee HK, Furuta H, Nanjo K, Tai ES, Ng DP, Tang NL, Woo J, Leung PC, Xue H, Wong J, Leung PS, Lau TC, Tong PC, Xu G, Ng MC, So WY, Chan JC
    • Journal Title

      PLoS One

      Volume: 9 Pages: e84770

    • Peer Reviewed
  • [Journal Article] Genetic associations of type 2 diabetes with islet amyloid polypeptide processing and degrading pathways in asian populations2013

    • Author(s)
      Lam VK, Ma RC, Lee HM, Hu C, Park KS, Furuta H, Wang Y, Tam CH, Sim X, Ng DP, Liu J, Wong TY, Tai ES, Morris AP; DIAGRAM Consortium, Tang NL, Woo J, Leung PC, Kong AP, Ozaki R, Jia WP, Lee HK, Nanjo K, Xu G, Ng MC, So WY, Chan JC
    • Journal Title

      PLoS One

      Volume: 8(6) Pages: e62378

    • Peer Reviewed
  • [Journal Article] Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus2013

    • Author(s)
      Takagi T, Furuta H, Miyawaki M, Nagashima K, Shimada T, Doi A, Matsuno S, Tanaka D, Nishi M, Sasaki H, Inagaki N, Yoshikawa N, Nanjo K, Akamizu T
    • Journal Title

      J Diabetes Invest

      Volume: 4 Pages: 269-273

    • Peer Reviewed
  • [Journal Article] The Kir6.2 E23K polymorphism is related to secondary failure of sulfonylureas in non-obese patients with type 2 diabetes2013

    • Author(s)
      Shimajiri Y, Yamana A, Morita S, Furuta H, Furuta M, Sanke T
    • Journal Title

      J Diabetes Invest

      Volume: 4(5) Pages: 445-449

    • Peer Reviewed
  • [Journal Article] Defective PAX4 R192H transcriptional repressor activities associated with maturity onset diabetes of the young and early onset-age of type 2 diabete2012

    • Author(s)
      Kooptiwut S, Plengvidhya N, Chukijrungroat T, Sujjitjoon J, Semprasert N, Furuta H, Yenchitsomanus PT
    • Journal Title

      J Diabetes Complications

      Volume: 26 Pages: 343-347

    • Peer Reviewed
  • [Presentation] ABCC8遺伝子変異による糖尿病の臨床的特長2014

    • Author(s)
      古田浩人、浦木進丞、高木伴幸、土井麻子、宮脇正和、島友子、西理宏、吉川徳茂、赤水尚史
    • Organizer
      第57回日本糖尿病学会年次学術集会
    • Place of Presentation
      大阪市
    • Year and Date
      2014-05-24
  • [Presentation] Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus2013

    • Author(s)
      Furuta H, Takagi T, Miyawaki M, Nagashima K, Shimada T, Doi A, Matsuno S, Tanaka D, Nishi M, Sasaki H, Inagaki N, Yoshikawa N, Nanjo K, Akamizu T
    • Organizer
      βCell Workshop 2013
    • Place of Presentation
      Kyoto, Japan
    • Year and Date
      20130423-26
  • [Presentation] 遺伝子診断が治療法の決定に有用であった若年発症糖尿病の1例2013

    • Author(s)
      浦木進丞、古田浩人、飯島文憲、宮脇正和、土井麻子、有安宏之、川嶋弘道、若﨑久生、西理宏、吉川徳茂、赤水尚史
    • Organizer
      第50回日本糖尿病学会近畿地方会
    • Place of Presentation
      京都市
    • Year and Date
      2013-11-23
  • [Presentation] 遺伝子診断後にインスリンからSU薬に治療を変更しえたABCC8遺伝子変異による新生児糖尿病の2例2013

    • Author(s)
      浦木進丞、高木伴幸、古田浩人、島友子、川嶋弘道、宮脇正和、長嶋一昭、土井麻子、島田健、若﨑久生、西理宏、中尾大成、佐々木秀行、稲垣暢也、南條輝志男、赤水尚史
    • Organizer
      第56回日本糖尿病学会年次学術集会
    • Place of Presentation
      熊本市
    • Year and Date
      2013-05-18

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Published: 2015-07-16  

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