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The establishment of comprehensive genetic analysis scheme for familial hypercholesterolemia

Research Project

Project/Area Number 18K08064
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 53020:Cardiology-related
Research InstitutionKanazawa University

Principal Investigator

Yamagishi Masakazu  金沢大学, 医学系, 協力研究員 (70393238)

Co-Investigator(Kenkyū-buntansha) 野村 章洋  金沢大学, 附属病院, 特任准教授 (30707542)
川尻 剛照  金沢大学, 医学系, 准教授 (90345637)
多田 隼人  金沢大学, 附属病院, 助教 (90623653)
Project Period (FY) 2018-04-01 – 2021-03-31
Project Status Completed (Fiscal Year 2020)
Budget Amount *help
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2019: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2018: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
KeywordsLDLコレステロール / 遺伝子解析 / 家族性高コレステロール血症 / 網羅的遺伝子解析
Outline of Final Research Achievements

We have developed an useful scheme of comprehensive genetic analysis for the patients with familial hypercholesterolemia (FH). We have shown that this scheme is useful not only for their accurate diagnosis, but also for differential diagnosis, leading to appropriate medical therapies. In addition, we have shown that a substantial proportion of individuals who have been diagnosed as clinical FH exhibit deleterious mutations in ABCG5 or ABCG8, suggesting that those mutations exacerbate or mimic the FH phenotype.

Academic Significance and Societal Importance of the Research Achievements

家族性高コレステロール血症に対する網羅的遺伝子解析スキームを開発し、確定診断に至るのみならず、鑑別診断に対しても有用であることを示した。特に、家族性コレステロール血症類似疾患であるシトステロール血症やそのキャリアの頻度やその臨床的意義についても明確とした。このようなステロール排泄に関与するABCG5ないしはABCG8遺伝子変異のキャリアの頻度及びその臨床的意義について、明確とした。このような成果により、著明な高コレステロール血症を呈した患者に対して網羅的遺伝子解析スキームにより性格な診断のみならず、より適切な治療に結び付けられる可能性がある。

Report

(4 results)
  • 2020 Annual Research Report   Final Research Report ( PDF )
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (6 results)

All 2021 2020 2019 2018

All Journal Article (6 results) (of which Peer Reviewed: 6 results,  Open Access: 3 results)

  • [Journal Article] Clinical Diagnostic Criteria of Familial Hypercholesterolemia ― A Comparison of the Japan Atherosclerosis Society and Dutch Lipid Clinic Network Criteria ―2021

    • Author(s)
      Tada H, Okada H, Nomura A, Usui S, Sakata K, Nohara A, Yamagishi M, Takamura M, Kawashiri MA
    • Journal Title

      Circulation Journal

      Volume: 85 Issue: 6 Pages: 891-897

    • DOI

      10.1253/circj.CJ-20-0901

    • NAID

      130008043212

    • ISSN
      1346-9843, 1347-4820
    • Year and Date
      2021-05-25
    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Prognostic impact of cascade screening for familial hypercholesterolemia on cardiovascular events2021

    • Author(s)
      Tada H, Okada H, Nomura A, Nohara A, Yamagishi M, Takamura M, Kawashiri MA
    • Journal Title

      J Clin Lipidol

      Volume: in press Issue: 2 Pages: 358-365

    • DOI

      10.1016/j.jacl.2020.12.012

    • Related Report
      2020 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene2020

    • Author(s)
      Tada H, Okada H, Nomura A, Nohara A, Takamura M, Kawashiri MA
    • Journal Title

      Internal Medicine

      Volume: 59 Issue: 6 Pages: 783-787

    • DOI

      10.2169/internalmedicine.3737-19

    • NAID

      130007808808

    • ISSN
      0918-2918, 1349-7235
    • Year and Date
      2020-03-15
    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene2020

    • Author(s)
      Tada H, Okada H, Nomura A, Takamura M, Kawashiri MA
    • Journal Title

      Lipids Health Dis

      Volume: 19 Issue: 1 Pages: 3-3

    • DOI

      10.1186/s12944-019-1183-4

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Rare and Deleterious Mutations in ABCG5/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia Phenotype2019

    • Author(s)
      Tada Hayato、Okada Hirofumi、Nomura Akihiro、Yashiro Satoshi、Nohara Atsushi、Ishigaki Yasushi、Takamura Masayuki、Kawashiri Masa-aki
    • Journal Title

      Circulation Journal

      Volume: 83 Issue: 9 Pages: 1917-1924

    • DOI

      10.1253/circj.CJ-19-0317

    • NAID

      130007695018

    • ISSN
      1346-9843, 1347-4820
    • Year and Date
      2019-08-23
    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Oligogenic familial hypercholesterolemia, LDL cholesterol, and coronary artery disease2018

    • Author(s)
      Tada Hayato、Kawashiri Masa-aki、Nomura Akihiro、Teramoto Ryota、Hosomichi Kazuyoshi、Nohara Atsushi、Inazu Akihiro、Mabuchi Hiroshi、Tajima Atsushi、Yamagishi Masakazu
    • Journal Title

      Journal of Clinical Lipidology

      Volume: 12 Issue: 6 Pages: 1436-1444

    • DOI

      10.1016/j.jacl.2018.08.006

    • Related Report
      2018 Research-status Report
    • Peer Reviewed

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Published: 2018-04-23   Modified: 2022-01-27  

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