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Genetics of chronic rhinosinusitis and related phyenotypes

Research Project

Project/Area Number 17K11371
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Otorhinolaryngology
Research InstitutionJikei University School of Medicine

Principal Investigator

Hirota Tomomitsu  東京慈恵会医科大学, 医学部, 講師 (50435674)

Project Period (FY) 2017-04-01 – 2020-03-31
Project Status Completed (Fiscal Year 2019)
Budget Amount *help
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2017: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords慢性副鼻腔炎 / 遺伝子多型 / GWAS / 関連解析 / メタ解析 / SNP / 症例対照関連解析 / 関連遺伝子
Outline of Final Research Achievements

Chronic rhinosinusitis (CRS) is a complex heterogeneous disease with different phenotypes and endotypes. To improve our understanding of the pathological mechanisms underlying CRS, we performed an association study of CRS. Because of frequent assumption of an association between CRS and allergy, we chose a candidate gene approach, and focused on 52 susceptibility variants previously reported in GWAS for allergic diseases. As a result of the combined analysis using two independent case-control sample sets, we identified significant associations between CRS and six loci (5q22.1, KIF3A/IL13; 2q12, IL1RL1/IL18R1/IL18RAP; MHC region, HLA-DQA1 and MICB; 5q35, LTC4S; 9p24.1, IL33; 2p25.1, LINC00299). Although further genetic and functional analyses are needed, these findings improve our understanding of genetic factors for CRS.

Academic Significance and Societal Importance of the Research Achievements

慢性副鼻腔炎は国内外を問わず有病率の高い疾患であり、その一部には、喘息を合併するもの、難治性の好酸球性副鼻腔炎、NSAID 不耐症など重篤な症状を示し、科学的な病態解明が待たれる疾患である。より詳細な研究が必要とはなるが、本研究で同定された慢性副鼻腔炎の遺伝的要因は、慢性副鼻腔炎の病態機構のより深い理解につながり、効果的な予防法や治療法の開発に貢献することが期待できる。

Report

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

Research Products

(7 results)

All 2020 2019 2018 2017

All Journal Article (2 results) (of which Peer Reviewed: 2 results,  Open Access: 2 results) Presentation (5 results) (of which Int'l Joint Research: 2 results,  Invited: 1 results)

  • [Journal Article] A genetic variant near <i>TSLP</i> is associated with chronic rhinosinusitis with nasal polyps and aspirin-exacerbated respiratory disease in Japanese populations2020

    • Author(s)
      Nakayama T, Hirota T, Asaka D, Sakashita M, Ninomiya T, Morikawa T, Okano M, Haruna S, Yoshida N, Takeno S, Tanaka Y, Yoshikawa M, Ishitoya J, Hizawa N, Isogai S, Mitsui C, Taniguchi M, Kojima H, Fujieda S, Tamari M
    • Journal Title

      Allergol. Int.

      Volume: 69 Issue: 1 Pages: 138-140

    • DOI

      10.1016/j.alit.2019.06.007

    • NAID

      130007788675

    • ISSN
      1323-8930, 1440-1592
    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] A cis-eQTL allele regulating reduced expression of CHI3L1 is associated with late-onset adult asthma in Japanese cohorts.2019

    • Author(s)
      Kanazawa J, Kitazawa H, Masuko H, Yatagai Y, Sakamoto T, Kaneko Y, Iijima H, Naito T, Saito T, Noguchi E, Konno S, Nishimura M, Hirota T, Tamari M, Hizawa N
    • Journal Title

      BMC Medical Genetics

      Volume: 20 Pages: 58-58

    • DOI

      10.1186/s12881-019-0786-y

    • NAID

      120007127949

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Presentation] 日本人集団におけるTSLP遺伝子の遺伝子多型と慢性副鼻腔炎の関連解析2019

    • Author(s)
      廣田朝光, 中山次久, 小島博己, 坂下雅文, 藤枝重治, 谷口正実, 玉利真由美
    • Organizer
      日本人類遺伝学会第64回大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] アレルギー関連疾患のゲノム解析・総論2019

    • Author(s)
      廣田朝光
    • Organizer
      日本アレルギー学会 第6回総合アレルギー講習会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Presentation] A TSLP variant is associated with chronic rhinosinusitis with nasal polyps and aspirin-exacerbated respiratory disease2018

    • Author(s)
      Tomomitsu Hirota, Tsuguhisa Nakayama, Masafumi Sakashita, Shigeharu Fujieda, Nobuyuki Hizawa, Masami Taniguchi, Mayumi Tamari
    • Organizer
      EAACI 2018 (ヨーロッパアレルギー学会)
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] A polymorphism in thymic stromal lymphopoietin (TSLP) is associated with chronic rhinosinusitis with nasal polyps and aspirin-exacerbated respiratory disease in the Japanese population2018

    • Author(s)
      Tomomitsu Hirota, Mayumi Tamari, Tsuguhisa Nakayama, Nobuyuki Hizawa, Sumito Isogai, Shigeharu Fujieda, Chihiro Mitsui, Masami Taniguchi,
    • Organizer
      32nd Symposium of the Collegium Internationale Allergologicum
    • Related Report
      2018 Research-status Report
    • Int'l Joint Research
  • [Presentation] TSLP遺伝子の多型と日本人慢性副鼻腔炎患者における関連解析2017

    • Author(s)
      広田朝光, 中山次久, 藤枝重治, 谷口正実, 小島博己, 玉利真由美
    • Organizer
      日本人類遺伝学会 第62回大会
    • Related Report
      2017 Research-status Report

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

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