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Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever

Research Project

Project/Area Number 26860477
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field General internal medicine(including psychosomatic medicine)
Research InstitutionShinshu University

Principal Investigator

KISHIDA Dai  信州大学, 学術研究院医学系(医学部附属病院), 助教 (50467180)

Research Collaborator NAKAMURA Akinori  信州大学, 医学部, 特任教授 (10303471)
YAZAKI Masahide  信州大学, 学術研究院医学系, 准教授 (70372513)
Project Period (FY) 2014-04-01 – 2017-03-31
Project Status Completed (Fiscal Year 2016)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2016: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords家族性地中海熱 / 自己炎症疾患 / MEFV遺伝子 / 遺伝型 / 表現型 / コルヒチン / 遺伝子診断 / 月経 / 自己炎症性疾患 / 臨床像 / 民族差
Outline of Final Research Achievements

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent self-limiting fever and serositis that mainly affects Mediterranean populations. We analyzed patients clinically diagnosed as having FMF to examine the precise genotype-phenotype correlation in a large cohort of Japanese FMF patients.
The most frequent mutation in Japanese patients was E148Q, followed by M694I, L110P, P369S, and R408Q. The clinical features with M694I were associated with more severe clinical course compared to those seen with E148Q. P369S/R408Q showed variable phenotypes with regard to both clinical manifestations and severity. Patients with M694I showed a very favorable response to colchicine therapy, while those with P369S and R408Q did not.
Clinical features and efficacy of treatment in Japanese FMF patients vary widely according to the specific MEFV gene mutation, and therefore genetic analysis should be performed for diagnosis in cases of Japanese FMF.

Report

(4 results)
  • 2016 Annual Research Report   Final Research Report ( PDF )
  • 2015 Research-status Report
  • 2014 Research-status Report
  • Research Products

    (11 results)

All 2017 2016 2015 2014 Other

All Journal Article (5 results) (of which Peer Reviewed: 5 results,  Open Access: 2 results) Presentation (4 results) Remarks (2 results)

  • [Journal Article] Fever of unknown origin in the outpatient setting: A retrospective analysis of 30 cases of familial Mediterranean fever2016

    • Author(s)
      Kunimatsu J, Maeda J, Watanabe R, Kato O, Kishida D, Yazaki M, Nakamura A.
    • Journal Title

      Japanese Journal of Clinical Immunology

      Volume: 39 Issue: 2 Pages: 130-139

    • DOI

      10.2177/jsci.39.130

    • NAID

      130005152243

    • ISSN
      0911-4300, 1349-7413
    • Related Report
      2016 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever.2015

    • Author(s)
      Yasunami M, Nakamura H, Nakamura A, Yazaki M, Kishida D et al.
    • Journal Title

      PLoS One

      Volume: May 14;10(5) Issue: 5 Pages: e0125938-e0125938

    • DOI

      10.1371/journal.pone.0125938

    • NAID

      120007100158

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations.2014

    • Author(s)
      Kishida D, Nakamura A, Yazaki M, Tsuchiya-Suzuki A, Matsuda M, Ikeda S.
    • Journal Title

      Arthritis Res Ther.

      Volume: 16 Issue: 5 Pages: 439-439

    • DOI

      10.1186/s13075-014-0439-7

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients.2014

    • Author(s)
      Migita K, Agematsu K, Yazaki M, Nonaka F, Nakamura A, Toma T, Kishida D, Uehara R, Nakamura Y, Jiuchi Y, Masumoto J, Furukawa H, Ida H, Terai C, Nakashima Y, Kawakami A, Nakamura T, Eguchi K, Yasunami M, Yachie A.
    • Journal Title

      Medicine (Baltimore)

      Volume: 93 Issue: 3 Pages: 158-164

    • DOI

      10.1097/md.0000000000000029

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Journal Article] A case of colchicine-responsive Mollaret's meningitis with MEFV gene mutation.2014

    • Author(s)
      Kinohshita T, Matsushima A, Satoh S, Hoshi K, Kishida D, Yahikozawa H.
    • Journal Title

      Rinsho Shinkeigaku.

      Volume: 54(2) Pages: 124-129

    • NAID

      130004505558

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Presentation] 中年期以降に発症した家族性地中海熱の臨床的特徴2017

    • Author(s)
      岸田大
    • Organizer
      第61回日本リウマチ学会
    • Place of Presentation
      福岡国際会議場
    • Year and Date
      2017-04-20
    • Related Report
      2016 Annual Research Report
  • [Presentation] 月経困難症として投与されたジエノゲストが有効性を示した家族性地中海熱の一例2016

    • Author(s)
      岸田大
    • Organizer
      第28回 日本リウマチ学会 中部支部学術集会
    • Place of Presentation
      ザ・グランユアーズフクイ(福井県)
    • Year and Date
      2016-09-02
    • Related Report
      2016 Annual Research Report
  • [Presentation] 家族性地中海熱における発作と月経の関連2016

    • Author(s)
      岸田大
    • Organizer
      第60回日本リウマチ学会
    • Place of Presentation
      パシフィコ横浜(神奈川県横浜市)
    • Year and Date
      2016-04-21
    • Related Report
      2015 Research-status Report
  • [Presentation] 本邦における家族性地中海熱の臨床像と遺伝学的特徴2014

    • Author(s)
      岸田大
    • Organizer
      第59回 日本リウマチ学会
    • Place of Presentation
      名古屋国際会議場(愛知県名古屋市)
    • Year and Date
      2014-04-23 – 2014-04-26
    • Related Report
      2014 Research-status Report
  • [Remarks] 信州大学第三内科

    • URL

      http://www.shinshu-u.ac.jp/faculty/medicine/chair/i-3nai/

    • Related Report
      2016 Annual Research Report
  • [Remarks] 信州大学第三内科

    • URL

      http://www.shinshu-u.ac.jp/faculty/medicine/chair/i-3nai/theme11.html

    • Related Report
      2015 Research-status Report 2014 Research-status Report

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Published: 2014-04-04   Modified: 2018-03-22  

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