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スポーツ傷害(靱帯損傷・筋損傷・疲労骨折)を規定する機能的遺伝子多型の解明

Research Project

Project/Area Number 18H03155
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Review Section Basic Section 59020:Sports sciences-related
Research InstitutionJuntendo University

Principal Investigator

福 典之  順天堂大学, スポーツ健康科学部, 先任准教授 (40392526)

Co-Investigator(Kenkyū-buntansha) 宮地 元彦  早稲田大学, スポーツ科学学術院, 教授 (60229870)
膳法 浩史  東京聖栄大学, 公私立大学の部局等, 講師 (90749285)
Project Period (FY) 2018-04-01 – 2022-03-31
Project Status Completed (Fiscal Year 2021)
Budget Amount *help
¥17,290,000 (Direct Cost: ¥13,300,000、Indirect Cost: ¥3,990,000)
Fiscal Year 2021: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2020: ¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2019: ¥6,370,000 (Direct Cost: ¥4,900,000、Indirect Cost: ¥1,470,000)
Fiscal Year 2018: ¥5,590,000 (Direct Cost: ¥4,300,000、Indirect Cost: ¥1,290,000)
Keywordsスポーツ傷害 / ゲノムワイド関連解析 / 疲労骨折 / 遺伝子多型 / 遺伝率 / 靱帯損傷 / 筋損傷 / アスリート
Outline of Annual Research Achievements

全ゲノムを対象とした網羅的遺伝子多型解析(ゲノムワイド関連解析)により、スポーツ傷害の代表例である疲労骨折・筋損傷・靱帯損傷に関連する遺伝要因の同定を試みている。  本年度は、これまでに抽出した総DNAを用いて疲労骨折・筋損傷・靱帯損傷に関するゲノムワイド関連解析を実施した。3,536名のなかから疲労骨折経験者、筋損傷経験者、靱帯損傷経験者、スポーツ傷害未経験者の計1,230名を用いて、東芝社製の全ゲノムを対象とした網羅的遺伝子多型解析システム・ジャポニカアレイを用いて659,253多型を解析した。
その後、これまでヒト全ゲノム約30億塩基対の解析を終えている日本人3,552名をリファレンスパネルとし、インピュテーションすることにより55,292,870多型を抽出した。その後クオリティー・コントロールを実施し、5,388,556多型を本研究の関連解析に用いた。本研究で用いたサンプルサイズは、疾患研究で用いられている数万人から数十万には及ばないためゲノムワイド関連解析でスポーツ傷害に関連する遺伝子多型を抽出するための検出力が低いと考えられる。そこで本来用いられているゲノムワイド関連解析時に用いられる有意水準であるP<5×10-8ではなく、P値が5×10-5より低い多型をスポーツ傷害に関連する候補遺伝子として定義し抽出した。
本年度は特に、疲労骨折に焦点を当て、関連解析を実施した。疲労骨折の発症率に男女差はみられなかった。P<5×10-5のGWAS suggestive levelの遺伝子多型は、34遺伝子座から292多型見つかった。そのうち、最も強く関連性がみられた遺伝子多型(P<5.3×10-8)は、13番染色体上のnon-coding領域であった。また、遺伝子多型の影響度から推定される疲労骨折の遺伝率は、24.8%であることが示された。今後、これらの多型の再現性試験や機能解析を実施して疲労骨折に関連するか否かを検証する必要がある。

Research Progress Status

令和3年度が最終年度であるため、記入しない。

Strategy for Future Research Activity

令和3年度が最終年度であるため、記入しない。

Report

(3 results)
  • 2021 Annual Research Report
  • 2019 Annual Research Report
  • 2018 Annual Research Report

Research Products

(18 results)

All 2022 2021 2020 2019 2018 Other

All Int'l Joint Research (2 results) Journal Article (9 results) (of which Int'l Joint Research: 5 results,  Peer Reviewed: 9 results,  Open Access: 8 results) Presentation (6 results) (of which Int'l Joint Research: 3 results,  Invited: 1 results) Funded Workshop (1 results)

  • [Int'l Joint Research] Lund University(スウェーデン)

    • Related Report
      2019 Annual Research Report
  • [Int'l Joint Research] Kazan State Medical University(ロシア連邦)

    • Related Report
      2018 Annual Research Report
  • [Journal Article] Genetic polymorphisms in <i>CYP19A1</i> and <i>ESR1</i> are associated with serum CK activity after prolonged running in men2022

    • Author(s)
      Kumagai Hiroshi、Miyamoto-Mikami Eri、Takaragawa Mizuki、Kuriki Kiyonori、Goto Chiho、Shibata Kiyoshi、Yamada Norihiro、Hosono Akihiro、Fuku Mizuho、Suzuki Sadao、Fuku Noriyuki
    • Journal Title

      Journal of Applied Physiology

      Volume: 132 Pages: 966-973

    • DOI

      10.1152/japplphysiol.00374.2021

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genetic variations associated with non‐contact muscle injuries in sport: A systematic review2021

    • Author(s)
      Lim Tifanny、Santiago Catalina、Pareja‐Galeano Helios、Iturriaga Tamara、Sosa‐Pedreschi Alicia、Fuku Noriyuki、P?rez‐Ruiz Margarita、Yvert Thomas
    • Journal Title

      Scandinavian Journal of Medicine &amp; Science in Sports

      Volume: 31 Pages: 2014-2032

    • DOI

      10.1111/sms.14020

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Genetic variants within the <i>COL5A1</i> gene are associated with ligament injuries in physically active populations from Australia, South Africa, and Japan2021

    • Author(s)
      Alvarez-Romero Javier、Laguette Mary-Jessica N.、Seale Kirsten、Jacques Macsue、Voisin Sarah、Hiam Danielle、Feller Julian A.、Tirosh Oren、Miyamoto-Mikami Eri、Kumagai Hiroshi、Kikuchi Naoki、Kamiya Nobuhiro、Fuku Noriyuki、Collins Malcolm、September Alison V.、Eynon Nir
    • Journal Title

      European Journal of Sport Science

      Volume: N/A

    • DOI

      10.1080/17461391.2021.2011426

    • Related Report
      2021 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Secular trends in the grip strength and body mass index of sport university students between 1973 and 20162020

    • Author(s)
      Kidokoro T, Kohmura Y, Fuku N, Someya Y, Suzuki K.
    • Journal Title

      Journal of Exercise Science & Fitness

      Volume: 18 Pages: 21-30

    • DOI

      10.1016/j.jesf.2019.08.002

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] The association of HFE gene H63D polymorphism with endurance athlete status and aerobic capacity: novel findings and a meta-analysis2020

    • Author(s)
      Semenova EA, Miyamoto-Mikami E, Akimov EB, Al-Khelaifi F, Murakami H, Zempo H, Kostryukova ES, Kulemin NA, Larin AK, Borisov OV, Miyachi M, Popov DV, Boulygina EA, Takaragawa M, Kumagai H, Naito H, Pushkarev VP, Dyatlov DA, Lekontsev EV, Pushkareva YE, Andryushchenko LB, Elrayess MA, Generozov EV, Fuku N, Ahmetov II
    • Journal Title

      European Journal of Applied Physiology

      Volume: 120 Pages: 665-673

    • DOI

      10.1007/s00421-020-04306-8

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] COL5A1 rs12722 polymorphism is not associated with passive muscle stiffness and sports-related muscle injury in Japanese athletes.2019

    • Author(s)
      Miyamoto-Mikami E, Miyamoto N, Kumagai H, Hirata K, Kikuchi N, Zempo H, Kimura N, Kamiya N, Kanehisa H, Naito H, Fuku N.
    • Journal Title

      BMC Medical Genetics

      Volume: 20 Pages: 192-192

    • DOI

      10.1186/s12881-019-0928-2

    • Related Report
      2019 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] ESR1 rs2234693 Polymorphism Is Associated with Muscle Injury and Muscle Stiffness2019

    • Author(s)
      Hiroshi Kumagai、Eri Miyamoto-Mikami、Kosuke Hirata、Naoki Kikuchi、Nobuhiro Kamiya、Seigo Hoshikawa、Hirofumi Zempo、Hisashi Naito、Naokazu Miyamoto、Noriyuki Fuku
    • Journal Title

      Medicine and Science in Sports and Exercise.

      Volume: 1 Pages: 19-26

    • DOI

      10.1249/mss.0000000000001750

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Role of selected polymorphisms in determining muscle fiber composition in Japanese men and women.2018

    • Author(s)
      Kumagai H, Tobina T, Ichinoseki-Sekine N, Kakigi R, Tsuzuki T, Zempo H, Shiose K, Yoshimura E, Kumahara H, Ayabe, M Higaki Y, Yamada R, Kobayashi H, Kiyonaga A, Naito H, Tanaka H, Fuku N
    • Journal Title

      JAP

      Volume: in press Issue: 3 Pages: 1-11

    • DOI

      10.1152/japplphysiol.00953.2017

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] AGTR2 and sprint/power performance: a case-control replicationstudy for rs11091046 polymorphism in two ethnicities2018

    • Author(s)
      Yvert TP、Zempo H、Gabdrakhmanova LJ、Kikuchi N、Miyamoto-Mikami E、Murakami H、Naito H、Miyachi M、Fuku N et al.
    • Journal Title

      Biology of Sport.

      Volume: - Pages: 105-109

    • DOI

      10.5114/biolsport.2018.71599

    • Related Report
      2018 Annual Research Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Presentation] The opposite associations of rs1107946 polymorphism in the COL1A1 with fatigue-fracture and muscle injury in Japanese athletes2019

    • Author(s)
      Miyamoto-Mikami E, Kumagai H, Kikuchi N, Kamiya N, Kohmura Y, Suzuki K, Naito H, Miyamoto N, Fuku N
    • Organizer
      24th Annual Congress of the European College of Sport Science
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] The association of ACTN3 R577X polymorphism with elite Japanese athlete status by various sport events2019

    • Author(s)
      Nobuhiko Akazawa, Nao Ohiwa, Noriyuki Fuku, Hiroshi Kumagai, Kazuhiro Shimizu, Yasuhiro Suzuki
    • Organizer
      24th Annual Congress of the European College of Sport Science
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 筋線維組成関連遺伝子多型が高血圧発症におよぼす影響の検討-J-Fit+ study-2019

    • Author(s)
      宮本(三上)恵里, 染谷由希, 熊谷仁, 河村剛光, 鈴木宏哉, 内藤久士, 福典之
    • Organizer
      第74回日本体力医学会大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] アスリートの競技特性が将来の高血圧発症に及ぼす影響-J-Fit+ study-2019

    • Author(s)
      熊谷仁, 染谷由希, 吉岡将輝, 宮本恵里, 崔英珠, 寶川美月, 中村美幸, 河村剛光, 鈴木宏哉, 町田修一, 内藤久士, 前田清司, 福典之
    • Organizer
      第74回日本体力医学会大会
    • Related Report
      2019 Annual Research Report
  • [Presentation] A Pro-Diabetogenic mtDNA Polymorphism in the Mitochondrial-Derived Peptide, MOTS-c2019

    • Author(s)
      Hirofumi Zempo, Su-Jeong Kim, Noriyuki Fuku et al.
    • Organizer
      Keystone Symposia - New Insight into the Biology of Exercise
    • Related Report
      2019 Annual Research Report
    • Int'l Joint Research
  • [Presentation] スポーツパフォーマンスに関連する遺伝子多型と生活習慣病との関連2019

    • Author(s)
      福典之
    • Organizer
      第90回日本衛生学会学術総会
    • Related Report
      2019 Annual Research Report
    • Invited
  • [Funded Workshop] 24th Annual Congress of the European College of Sport Science2019

    • Related Report
      2019 Annual Research Report

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Published: 2018-04-23   Modified: 2022-12-28  

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