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Epidemiological study of familial hypercholesterolemia aimed at personalized prevention of atherosclerotic diseases

Research Project

Project/Area Number 22K10485
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 58020:Hygiene and public health-related: including laboratory approach
Research InstitutionKanazawa University

Principal Investigator

Kawashiri Masa-aki  金沢大学, 医学系, 協力研究員 (90345637)

Co-Investigator(Kenkyū-buntansha) 多田 隼人  金沢大学, 附属病院, 助教 (90623653)
Project Period (FY) 2022-04-01 – 2025-03-31
Project Status Completed (Fiscal Year 2024)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2024: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2023: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2022: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords家族性高コレステロール血症 / 心血管イベント / LDLコレステロール
Outline of Research at the Start

金沢大学と関連30施設からFH患者(目標2,000例)をオンライン登録し、FH患者の治療状況、LDL-C管理目標値到達率などを明確とし、動脈硬化性疾患発症に関連する因子(脂質値、その他の危険因子とその重症度、FH関連遺伝子およびコレステロール代謝に関連する遺伝子変異等)を抽出する。

Outline of Final Research Achievements

We conducted a multi-center collaborative research project related to Kanazawa University (Hokuriku Plus FH Registry Study), registering a total of 431 FH cases and conducting follow-up investigations for about four years. It was found that gender differences and genetic testing were related factors in achieving LDL cholesterol management goals. Furthermore, it was suggested that conducting genetic testing for this condition could lead not only to a definitive diagnosis but also to a reduction in major cardiovascular complications.

Academic Significance and Societal Importance of the Research Achievements

家族性高コレステロール血症の診療における性差が明らかになったほか、本症に対する遺伝学的検査について、単なる確定診断に留まらず、LDLコレステロール管理の向上につながる可能性が示唆された。本研究により、特に女性に対する診療のレベル向上、さらには令和4年度より保険診療で施行可能となった、本症に対する遺伝学的検査の更なる普及啓発活動が求められる。

Report

(4 results)
  • 2024 Annual Research Report   Final Research Report ( PDF )
  • 2023 Research-status Report
  • 2022 Research-status Report
  • Research Products

    (11 results)

All 2025 2023 2022

All Journal Article (5 results) (of which Peer Reviewed: 5 results,  Open Access: 2 results) Presentation (6 results) (of which Invited: 1 results)

  • [Journal Article] Impact of Genetic Testing and Sex Differences among Patients with Familial Hypercholesterolemia: The Hokuriku-plus Familial Hypercholesterolemia Registry Study2025

    • Author(s)
      Tada H, Okada H, Yoshida S, Shimojima M, Nomura A, Tsuda T, Mori M, Takashima SI, Kato T, Usui S, Sakata K, Hayashi K, Fujino N, Inazu A, Nagase K, Mizukoshi E, Kawashiri MA, Takamura M; Hokuriku-plus Familial Hypercholesterolemia Registry Study Group
    • Journal Title

      Journal of Atherosclerosis and Thrombosis

      Volume: 32 Issue: 7 Pages: 887-895

    • DOI

      10.5551/jat.65359

    • ISSN
      1340-3478, 1880-3873
    • Year and Date
      2025-07-01
    • Related Report
      2024 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Attainment of the low-density lipoprotein cholesterol treatment target and prognosis of heterozygous familial hypercholesterolemia2023

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

      Atherosclerosis

      Volume: 371 Pages: 61-66

    • Related Report
      2023 Research-status Report
    • Peer Reviewed
  • [Journal Article] Impact of the severe familial hypercholesterolemia status on atherosclerotic risks2023

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

      Sci Rep

      Volume: 13 Issue: 1

    • DOI

      10.1038/s41598-023-47147-z

    • Related Report
      2023 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Impact of Healthy Lifestyle in Patients With Familial Hypercholesterolemia2023

    • Author(s)
      Tada H, Kojima N, Yamagami K, Nomura A, Nohara A, Usui S, Sakata K, Hayashi K, Fujino N, Takamura M, Kawashiri MA
    • Journal Title

      JACC Asia

      Volume: 3 Issue: 1 Pages: 152-160

    • DOI

      10.1016/j.jacasi.2022.10.012

    • Related Report
      2022 Research-status Report
    • Peer Reviewed
  • [Journal Article] Impact of variants of uncertain significance of LDL receptor on phenotypes of familial hypercholesterolemia2022

    • Author(s)
      Tada Hayato、Kojima Nobuko、Yamagami Kan、Nomura Akihiro、Nohara Atsushi、Usui Soichiro、Sakata Kenji、Hayashi Kenshi、Fujino Noboru、Takamura Masayuki、Kawashiri Masa-aki
    • Journal Title

      Journal of Clinical Lipidology

      Volume: 16 Issue: 6 Pages: 863-869

    • DOI

      10.1016/j.jacl.2022.09.007

    • Related Report
      2022 Research-status Report
    • Peer Reviewed
  • [Presentation] Impact of genetic testing and sex difference among patients with familial hypercholesterolemia: The Hokuriku-plus Familial Hypercholesterolemia Registry Study2025

    • Author(s)
      多田隼人
    • Organizer
      第89回日本循環器学会学術集会
    • Related Report
      2024 Annual Research Report
  • [Presentation] FHおよび原発性脂質異常症に対する遺伝学的検査:実際の活用法2023

    • Author(s)
      多田隼人
    • Organizer
      第55回日本動脈硬化学会総会
    • Related Report
      2023 Research-status Report
  • [Presentation] ゲノム情報に基づく動脈硬化性疾患予防医学へのアプローチ2023

    • Author(s)
      多田隼人
    • Organizer
      第55回日本動脈硬化学会総会
    • Related Report
      2023 Research-status Report
  • [Presentation] 単一遺伝子病から多因子病に向けた、遺伝医療のアプローチ2022

    • Author(s)
      多田隼人
    • Organizer
      第29回日本遺伝子診療学会大会
    • Related Report
      2022 Research-status Report
    • Invited
  • [Presentation] 家族性高コレステロール血症ガイドライン2022 診断治療update2022

    • Author(s)
      多田隼人、川尻剛照
    • Organizer
      第54回日本動脈硬化学会総会
    • Related Report
      2022 Research-status Report
  • [Presentation] 遺伝学的エビデンスから考えるアポB含有リポタンパク包括的管理の重要性と今後の展望2022

    • Author(s)
      多田隼人
    • Organizer
      第70回日本心臓病学会学術集会
    • Related Report
      2022 Research-status Report

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Published: 2022-04-19   Modified: 2026-01-16  

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