• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Exploration of psoriasis-susceptibility variants in germline and somatic cells by exome sequencing

Research Project

Project/Area Number 15K09785
Research Category

Grant-in-Aid for Scientific Research (C)

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

Principal Investigator

OKA Akira  東海大学, 総合医学研究所, 講師 (80384866)

Co-Investigator(Kenkyū-buntansha) 池田 志斈  順天堂大学, 医学部, 教授 (40193198)
照井 正  日本大学, 医学部, 教授 (30172109)
佐野 栄紀  高知大学, 教育研究部医療学系臨床医学部門, 教授 (80273621)
馬渕 智生  東海大学, 医学部, 教授 (30408059)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2016: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywords乾癬 / Superimposed linear / 体細胞変異 / 全ゲノムシークエンシング / エクソーム / シークエンシング / 遺伝子 / ゲノム / 家族症例
Outline of Final Research Achievements

Any somatic mutations in psoriasis have never been investigated, though variants in the germline have been analyzed around the world. However, there should be disease-causing variants in not only germline but also somatic cells. Thus, cutaneous mosaicism may contribute to the psoriasis pathogenesis. Therefore, we investigated variants of affected and unaffected skin in superimposed linear psoriasis showing manifestations along Blaschko’s line by whole genome sequencing. We obtain the massive data from sequencing and are exploring DNA substitutions, LOH (loss of heterozygosity), CNV (copy number variant), and structural variant now.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (5 results)

All 2017 2015

All Journal Article (5 results) (of which Int'l Joint Research: 4 results,  Peer Reviewed: 5 results,  Acknowledgement Compliant: 2 results,  Open Access: 2 results)

  • [Journal Article] RXRB Is an MHC-Encoded Susceptibility Gene Associated with Anti-Topoisomerase I?Antibody-Positive Systemic Sclerosis2017

    • Author(s)
      Oka Akira、Asano Yoshihide、Hasegawa Minoru、Fujimoto Manabu、Kawaguchi Yasushi、Takahashi Hiroki、Goto Daisuke、Endo Hirahito、Jinnin Masatoshi、Mano Shuhei、Hosomichi Kazuyoshi、Mabuchi Tomotaka、Ueda Mahoko Takahashi、Nakagawa So、 SBahram Seiamak、Takehara Kazuhiko、Sato Shinichi、Ihn Hironobu
    • Journal Title

      Journal of Investigative Dermatology

      Volume: 137 Issue: 9 Pages: 1878-1886

    • DOI

      10.1016/j.jid.2017.04.028

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis.2017

    • Author(s)
      Terao C, Kawaguchi T, Dieude P, Varga J, Kuwana M, Hudson M, Kawaguchi Y, Matucci-Cerinic M, Ohmura K, Riemekasten G, Kawasaki A, Airo P, Horita T, Oka A, Hachulla E, Yoshifuji H, Caramaschi P, Hunzelmann N, Baron M, Atsumi T, Hassoun P, Torii T, Takahashi M, et al.
    • Journal Title

      Ann Rheum Dis.

      Volume: 印刷中 Issue: 6 Pages: 1150-1158

    • DOI

      10.1136/annrheumdis-2016-210645

    • Related Report
      2017 Annual Research Report 2016 Research-status Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Journal Article] RXRB is a MHC-encoded susceptibility gene associated with anti-topoisomerase I antibody-positive systemic sclerosis2017

    • Author(s)
      Akira Oka, Yoshihide Asano, Minoru Hasegawa, Manabu Fujimoto, Osamu Ishikawa, Masataka Kuwana, Yasushi Kawaguchi, Toshiyuki Yamamoto et al.
    • Journal Title

      Journal of Investigative Dermatology

      Volume: -

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Recessive Inheritance of Population-Specific Intronic LINE-1 Insertion Causes a Rotor Syndrome Phenotype2015

    • Author(s)
      Tatehiro Kagawa, Akira Oka, Yoshinao Kobayashi, Yoichi Hiasa, Tsuneo Kitamura, Hiroshi Sakugawa, Yukihiko Adachi, Kazuya Anzai, Kota Tsuruya, Yoshitaka Arase, Shunji Hirose, Koichi Shiraishi, Takashi Shiina, Tadayuki Sato, Ting Wang, Masayuki Tanaka, Hideki Hayashi et al.
    • Journal Title

      Human Mutation

      Volume: 36 Issue: 3 Pages: 327-332

    • DOI

      10.1002/humu.22745

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Relationship between Human Evolution and Neurally Mediated Syncope Disclosed by the Polymorphic Sites of the Adrenergic Receptor Gene α2B-AR2015

    • Author(s)
      Komiyama T, Hirokawa T, Sato K, Oka A, Kamiguchi H, Nagata E, Sakura H, Otsuka K, Kobayashi H.
    • Journal Title

      PLoS One.

      Volume: 10 Issue: 4 Pages: e0120788-e0120788

    • DOI

      10.1371/journal.pone.0120788

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research

URL: 

Published: 2015-04-16   Modified: 2019-03-29  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi