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Life-course Genome Study: From genome information to healthcare

Research Project

Project/Area Number 17K09081
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Epidemiology and preventive medicine
Research InstitutionTokyo Medical and Dental University

Principal Investigator

Muramatsu Masaaki  東京医科歯科大学, 難治疾患研究所, 教授 (50230008)

Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywordsポリジェニックスコア / 多因子疾患 / 遺伝子検査 / 遺伝子・環境因子交互作用 / 疾患予防 / 行動変容 / パーソナルゲノム / ゲノムリテラシー / コモンバリアント / 関連研究 / 環境要因・遺伝要因の交互作用 / p450代謝酵素 / ノンコーディングRNA / 疾患感受性 / レアバリアント / ポジェニックモデル / ゲノム疫学 / ゲノム / 社会医学 / 遺伝子
Outline of Final Research Achievements

Polygenic score (PGS) is an index for genetic risk of common chronic diseases. While improvement of PGS is ongoing, we studied whether PGS in its current form affects understanding of diseases and behavior change towards healthier lifestyle. Since direct-to-consumer (DTC) setting does not contribute to behavior change, we integrated consultation by a medical staff. PGS combined with medical consultation enhanced disease understanding and behavior change in favor of disease prevention. This was seen in Japanese (n=20), but the effect was not apparent for foreigners living in Japan(n=13).
Gene X Environment interaction is important for development of common chronic diseases. We studied whether alcohol metabolizing ADH1B and Nicotine metabolizing CYP2A6 variants affect prevalence of cancer in elderly Japanese. These two variants by themselves did not have strong effect on total cancer as well as major cancer types, but we found signs for interaction with drinking and smoking habits.

Academic Significance and Societal Importance of the Research Achievements

日常的慢性疾患の遺伝素因のひとつの指標であるポリジェニックスコア(PGS)は、すでに同様の形式のものが消費者直結型(DTC)遺伝子検査として行われている。今後はPGSをより精密にするとともに、予防医療をより効果的に促進するための社会実装を見据えた、現実的な取り組みを並行して進める必要がある。この新しい指標の臨床的有用性は、単に検査の感度・特異度として捉える限りは、正しい位置付けは難しい。より具体的な予防行動を啓発できるよう、遺伝子X環境因子の交互作用が明らかにされて、PGSに組み入れられる必要がある。またこれらの情報が個人の予防行動に反映されるためには、ゲノムリテラシーの普及も重要である。

Report

(4 results)
  • 2019 Annual Research Report   Final Research Report ( PDF )
  • 2018 Research-status Report
  • 2017 Research-status Report
  • Research Products

    (5 results)

All 2020 2019

All Journal Article (3 results) (of which Peer Reviewed: 3 results,  Open Access: 3 results) Presentation (2 results)

  • [Journal Article] Association Between rs1229984 in ADH1B and Cancer Prevalence in a Japanese Population2020

    • Author(s)
      Govind P, Pavethynath S, Sawabe M, Arai T, Muramatsu M.
    • Journal Title

      Molecular Clinical Oncology

      Volume: 12 Pages: 503-510

    • DOI

      10.3892/mco.2020.2021

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Association of CYP2A6 gene deletion with cancers in Japanese elderly: an autopsy study.2020

    • Author(s)
      Abudushataer M, Sato N, Mieno M, Sawabe M, Muramatsu M, Arai T.
    • Journal Title

      BMC Cancer

      Volume: 20 Issue: 1 Pages: 186-186

    • DOI

      10.1186/s12885-020-6663-4

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Association Study of Long Non-Coding RNA HOTAIR rs920778 Polymorphism With the Risk of Cancer in an Elderly Japanese Population2020

    • Author(s)
      Minn AKK, Sato N, Mieno MN, Arai T, Muramatsu M.
    • Journal Title

      Gene

      Volume: 729 Pages: 144263-144263

    • DOI

      10.1016/j.gene.2019.144263

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Presentation] ポリジェニックスコアによる多因子疾患のリスク測定の意義2019

    • Author(s)
      村松正明
    • Organizer
      第60回日本人間ドック学会学術大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] ポリジェニックスコアを用いた遺伝学的検査は予防行動を促すか?2019

    • Author(s)
      村松正明
    • Organizer
      日本人類遺伝学会 第64回大会
    • Related Report
      2019 Annual Research Report

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Published: 2017-04-28   Modified: 2021-02-19  

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