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Methylome Analysis of Thyroid Dysgenesis

Research Project

Project/Area Number 15K09630
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionNational Center for Child Health and Development (2016-2017)
Keio University (2015)

Principal Investigator

Narumi Satoshi  国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 室長 (40365317)

Co-Investigator(Renkei-kenkyūsha) Ito Takashi  九州大学, 医学研究院, 教授 (90201326)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords小児内内分泌学 / 甲状腺形成異常 / 遺伝学 / エピジェネティクス / メチローム / 小児内分泌学 / メチル化異常 / 次世代シーケンシング / 先天性甲状腺機能低下症
Outline of Final Research Achievements

In this study, we screened genomic region showing differential methylation levels using DNA samples derived from patients with thyroid dysgenesis (TD) or age-matched control individuals. Analysis with the PBAT method (TD N=7; control N=3) revealed about 300 genomi regions, including the CpG island of the thyroid-specific transcription factor PAX8, were identified as the candidate regions. However, replication analysis with the BeadArray method failed to reproduce the abnormalities identified in the initial screening. We also re-analyzed the difference with the dataset obtained by the BeadArray method, but no significant difference was detected in the clustering analysis and analysis focusing on thyroid-specific transcription factors. The above data did not support our working hypothesis that "DNA methylation abnormality is involved in the onset of TD".

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (7 results)

All 2017 Other

All Int'l Joint Research (1 results) Journal Article (4 results) (of which Int'l Joint Research: 1 results,  Peer Reviewed: 4 results,  Open Access: 3 results,  Acknowledgement Compliant: 1 results) Presentation (2 results) (of which Invited: 2 results)

  • [Int'l Joint Research] Nemours Children’s Specialty Care(米国)

    • Related Report
      2016 Research-status Report
  • [Journal Article] Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach2017

    • Author(s)
      Abe Kiyomi、Narumi Satoshi、Suwanai Ayuko S.、Adachi Masanori、Muroya Koji、Asakura Yumi、Nagasaki Keisuke、Abe Takayuki、Hasegawa Tomonobu
    • Journal Title

      European Journal of Endocrinology

      Volume: 178 Issue: 2 Pages: 137-144

    • DOI

      10.1530/eje-16-1049

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Mild thyroid peroxidase deficiency caused by <i>TPO</i> mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity2017

    • Author(s)
      Narumi S, Fox LA, Fukudome K, Sakaguchi Z, Sugisawa C, Abe K, Kameyama K, Hasegawa T.
    • Journal Title

      Endocrine Journal

      Volume: 64 Issue: 11 Pages: 1087-1097

    • DOI

      10.1507/endocrj.EJ17-0194

    • NAID

      130006225028

    • ISSN
      0918-8959, 1348-4540
    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Homozygous <i>DUOXA2</i> mutation (p.Tyr138<sup>*</sup>) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature2017

    • Author(s)
      Sugisawa C, Higuchi S, Takagi M, Hasegawa Y, Taniyama M, Abe K, Hasegawa T, Narumi S.
    • Journal Title

      Endocrine Journal

      Volume: 64 Issue: 8 Pages: 807-812

    • DOI

      10.1507/endocrj.EJ16-0564

    • NAID

      130006026370

    • ISSN
      0918-8959, 1348-4540
    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Homozygous DUOXA2 mutation (p.Tyr138*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature2017

    • Author(s)
      Chiho Sugisawa, Shinji Higuchi, Masaki Takagi, Yukihiro Hasegawa, Matsuo Taniyama, Kiyomi Abe, Tomonobu Hasegawa, Satoshi Narumi
    • Journal Title

      Endocrine Journal

      Volume: 印刷中

    • NAID

      130006026370

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Presentation] Genetics of Congenital Hypothyroidism: Knowns and Unknowns2017

    • Author(s)
      Satoshi Narumi
    • Organizer
      日本甲状腺学会
    • Related Report
      2017 Annual Research Report
    • Invited
  • [Presentation] 先天性甲状腺機能低下症の成因:環境、遺伝、相互作用2017

    • Author(s)
      鳴海 覚志
    • Organizer
      第90回日本内分泌学会学術集会
    • Place of Presentation
      京都市
    • Related Report
      2016 Research-status Report
    • Invited

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Published: 2015-04-16   Modified: 2019-03-29  

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