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Construction of eQTL database during pregnant period

Research Project

Project/Area Number 18H03326
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Review Section Basic Section 62010:Life, health and medical informatics-related
Research InstitutionKyoto University

Principal Investigator

nagasaki masao  京都大学, スーパーグローバルコース医学生命系ユニット, 特定教授 (90396862)

Project Period (FY) 2018-04-01 – 2021-03-31
Project Status Completed (Fiscal Year 2020)
Budget Amount *help
¥17,290,000 (Direct Cost: ¥13,300,000、Indirect Cost: ¥3,990,000)
Fiscal Year 2020: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2019: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2018: ¥6,630,000 (Direct Cost: ¥5,100,000、Indirect Cost: ¥1,530,000)
KeywordsRNAシークエンシング / eQTL / 妊娠期間 / 遺伝要因探索 / 全ゲノムシークエンシング / マタニティログ / RNS-Seq / 全ゲノム / トランスクリプトーム / データベース / 妊婦
Outline of Final Research Achievements

The study has conducted the association study (eQTL analysis) to about 300 Japanese pregnant women between more than ten millions variants from whole genome sequencing and RNA sequencing at three points (two data points in pregnancy and one point in postpartum). The gene-variants relationship was categorized into seven patterns (detected the common relationship in three points and specific in pregnancy or postpartum). Based on this result, the study also constructed an eQTL database of Japanese pregnant women. The database is especially useful for both for domestic and global researchers to understand the mechanisms from pregnancy to postpartum periods.
Parts of the gene-variants relationship in this database matched to the relationship in the diseases associated SNP catalog database, GWASCatalog. The result naturally suggests that the reported disease might also affect the Japanese women via these gene-variant cascades. Thus, the database can be used also for general periods.

Academic Significance and Societal Importance of the Research Achievements

妊娠期間中における妊娠期間毎の一般集団と健常妊婦における日本人のeQTLデータベースを世界で初めて構築した。当データベースは、今後得られてくるRNA転写物、プロテオームなどのマーカーについて個人毎の遺伝的な背景を検討するための貴重な情報資源の1つとなる。さらに、国内外のゲノムワイド関連解析によって得られたデータベースGWASCatalog等で報告されているSNPについて当該データベースに関連したSNPも得られていることから、妊娠期間毎の解析に限らず、日本人の遺伝要因と転写物の発現解析にも幅広く活用できる。

Report

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

    (5 results)

All 2020 2019

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

  • [Journal Article] Maternity Log study: A longitudinal lifelog monitoring and multiomics analysis for the early prediction of complicated pregnancy2019

    • Author(s)
      Sugawara J, Ochi D, Yamashita R, Yamauchi T, Saigusa D, Wagata M, Obara T, Ishikuro M, Tsunemoto Y, 18名略, Hiyama S, Nagasaki M
    • Journal Title

      BMJ Open

      Volume: 9 Issue: 2 Pages: e025939-e025939

    • DOI

      10.1136/bmjopen-2018-025939

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Presentation] 日本人集団のタンパク質発現量と関連するゲノム遺伝子座との統合解析2020

    • Author(s)
      長﨑 正朗
    • Organizer
      日本人類遺伝学会第65回大会
    • Related Report
      2020 Annual Research Report
  • [Presentation] Genome-Wide mapping of 4,483 protein QTLs Of the 743 Japanese population2020

    • Author(s)
      Masao Nagasaki
    • Organizer
      The American Society of Human Genetics (ASHG) 2020 Virtual Meeting
    • Related Report
      2020 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Development and application of biomedical methods to facilitate the detection of disease-causing variants based on whole genome data from Japanese2019

    • Author(s)
      Masao Nagasaki
    • Organizer
      The 3rd JCS Council Forum on Basic CardioVascular Research (BCVR 2019)
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited
  • [Presentation] Genome cohort projects in Japan and biomedical analyses toward the discoveries of disease-causing variants2019

    • Author(s)
      Masao Nagasaki
    • Organizer
      Genome Expo 2019
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research / Invited

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

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