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Identification of alopecia areata gene by GWAS (3rd stage)

Research Project

Project/Area Number 16K10177
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Dermatology
Research InstitutionJuntendo University

Principal Investigator

Ikeda Shigaku  順天堂大学, 医学部, 教授 (40193198)

Co-Investigator(Kenkyū-buntansha) 岡 晃  東海大学, 総合医学研究所, 講師 (80384866)
Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Keywords円形脱毛症 / 遺伝子解析 / マイクロサテライトマーカー / 次世代シークエンサー / 遺伝子同定 / ゲノム編集 / ノックアウトマウス / マイクロアレイ / GWAS / 疾患感受性遺伝子 / ゲノム解析 / 次世代シークエンス / モデルマウス / 多型DNAマーカー / 疾患遺伝子
Outline of Final Research Achievements

By next-generation sequencing of 4 Mb interval at HLA-C locus on risk and non-risk haplotypes of alopecia areata (AA), we have identified only one non-synonymous single nucleotide variant (NSSNV) which is common among 5 risk haplotype. Then we have generated genome-edited mice by Crisper Cas9 system which is carrying mouse counterpart of this SNSNV. Surprisingly, 55% mice showed AA like patchy alopecia. Next we have generated knock-our mouse by Cre/lox p system of the gene, in which this SNSNV was identified. By water avoidance stress test, 27% of the knock-out mice showed AA like lesions.

Academic Significance and Societal Importance of the Research Achievements

これら研究により、1)多因子性疾患の遺伝子解析にマイクロサテライトマーカー法が有用であること、2)本遺伝子とそのSNSNVによりAAの18%が惹起されることが判明したこと、3)本variantを有する患者群の解析によりAAのサブタイプが判明すること、4)そのタイプ特異的治療法の開発が可能となること、5)そのタイプ以外のAAサブタイプを同定し、更なる遺伝子同定に寄与し得る点、が有意義と思われる。

Report

(4 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Research-status Report
  • 2016 Research-status Report
  • Research Products

    (1 results)

All 2018

All Presentation (1 results) (of which Int'l Joint Research: 1 results)

  • [Presentation] Mouse model supports gene “X” as a new susceptibility gene for alopecia areata2018

    • Author(s)
      Zhao QF, Takagi A, Komiyama E, Yoshihara N, Fujisawa M, Ikeda S
    • Organizer
      第26回毛髪科学研究会
    • Related Report
      2018 Annual Research Report
    • Int'l Joint Research

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Published: 2016-04-21   Modified: 2020-03-30  

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