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Development of genotype-phenotype prediction method for channelopathy

Research Project

Project/Area Number 24790336
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Human genetics
Research InstitutionHamamatsu University School of Medicine

Principal Investigator

YOSHIDA SHUICHI  浜松医科大学, 医学部, 助教 (10580574)

Co-Investigator(Renkei-kenkyūsha) NISHIO Takuhiro  浜松医科大学, 医学部, 准教授 (90172626)
KANEKO Sunao  湊病院, 北東北てんかんセンター, センター長 (40106852)
Project Period (FY) 2012-04-01 – 2014-03-31
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2013: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2012: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Keywords遺伝子型-表現型 / 機械学習法 / SCN1A / 表現型予測 / 遺伝子診断 / 確率モデル / 遺伝型-表現型相関
Research Abstract

We described a computational model for phenotype prediction of SCN1A-related epilepsies involving the Machine-learning approaches (such as Support vector machines, Random Forest) that were trained some predicting factors obtained by data-mining analysis among the databases. Our models show high accuracy, especially, the prediction models include IE, P and HP of physicochemical property as predicting factor. Our findings indicate the possibility of phenotype prediction for entirely new missense mutations by an application of the physico-chemical properties of amino acid residues.

Report

(3 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • Research Products

    (22 results)

All 2014 2013 2012

All Journal Article (7 results) (of which Peer Reviewed: 5 results) Presentation (7 results) Book (8 results)

  • [Journal Article] Anger in epilepsy patients with depression and patients with idiopathic major depression: A comparison study2014

    • Author(s)
      Mori Y, Kanemoto K, Onuma T, Tanaka M, Oshima T, Kato H, Tachimori H, Wada K, Kikuchi T, Tomita T, Chen L, Liu F, Yoshida S, Kato M, Kaneko S
    • Journal Title

      The Tohoku Journal of Experimental Medicine

      Volume: 232 Pages: 123-128

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 医学のあゆみ2013

    • Author(s)
      ①吉田秀一
    • Journal Title

      特集 : イオンチャネル病のすべて

      Volume: 245 Pages: 740-744

    • Related Report
      2013 Final Research Report
  • [Journal Article] A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).2013

    • Author(s)
      Yamada J, Zhu G, Okada M, Hirose S,
    • Journal Title

      Epilepsy Res.

      Volume: 107 Issue: 1-2 Pages: 127-137

    • DOI

      10.1016/j.eplepsyres.2013.08.018

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] てんかんとイオンチャネル(特集:イオンチャネル病のすべて)2013

    • Author(s)
      吉田秀一, 兼子 直
    • Journal Title

      医学のあゆみ

      Volume: 245 Pages: 740-744

    • Related Report
      2013 Annual Research Report
  • [Journal Article] てんかんとイオンチャネル2013

    • Author(s)
      吉田秀一, 兼子直
    • Journal Title

      医学のあゆみ 特集:イオンチャネル病のすべて

      Volume: 245

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Superoxide dismutase 2 Vall6Ala polymorphism is a risk factor for the valproic acid-related elevation of serum aminotransferases2012

    • Author(s)
      猿渡淳二, 他11名
    • Journal Title

      Epilepsy & Seizure

      Volume: 99 Issue: 1-2 Pages: 183-186

    • DOI

      10.1016/j.eplepsyres.2011.10.033

    • Related Report
      2013 Final Research Report 2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] Association between the dopamine D2 receptor (DRD2) polymorphism and the personality traits of healthy Japanese participants2012

    • Author(s)
      Tsuchimine S, Yasui-Furukori N, Sugawara N, Sasaki K, Kaneda A, Yoshida S, Kaneko S
    • Journal Title

      Prog Neuropsychopharmacol Biol Psychiatry

      Volume: 38 Issue: 2 Pages: 190-3

    • DOI

      10.1016/j.pnpbp.2012.03.008

    • Related Report
      2013 Final Research Report 2012 Research-status Report
    • Peer Reviewed
  • [Presentation] A Computational Approach for Predicting SCN1A-related Epilepsy Phenotypes based on Physicochemical Property Changes2013

    • Author(s)
      Yoshida S, Kaneko S, Nishio T
    • Organizer
      The 24th International Conference on Genome Informatics
    • Place of Presentation
      Singapore
    • Related Report
      2013 Final Research Report
  • [Presentation] A Computational Approach for Predicting SCN1A-related Epilepsy Phenotypes based on Physico-chemical Property Changes2013

    • Author(s)
      Yoshida S, Kaneko S, Nishio T
    • Organizer
      The 24th International Conference on Genome Informatics
    • Place of Presentation
      Singapore
    • Related Report
      2013 Annual Research Report
  • [Presentation] てんかんの遺伝子診断up to date シンポジウム個別化治療up to date : 遺伝子診断の現状と治療への応用2012

    • Author(s)
      吉田秀一
    • Organizer
      第46回日本てんかん学会
    • Place of Presentation
      東京
    • Year and Date
      2012-10-11
    • Related Report
      2013 Final Research Report
  • [Presentation] DNAチップを用いた様々なてんかん類型における遺伝子変異の同定2012

    • Author(s)
      菅原貴征,吉田秀一,和田一丸,廣瀬伸一,兼子直
    • Organizer
      第46回日本てんかん学会
    • Place of Presentation
      東京
    • Year and Date
      2012-10-11
    • Related Report
      2013 Final Research Report 2012 Research-status Report
  • [Presentation] Predicting SCN1A - related Epilepsy Phenotypes Based on the Functional Effect in SCN1A with the Amino - Acid Substitution2012

    • Author(s)
      Yoshida S, Shimizu T, Kaneko S, Nishio T
    • Organizer
      Joint Conference on Informatics in Biology, Medicine and Pharmacology
    • Place of Presentation
      Tokyo
    • Related Report
      2013 Final Research Report
  • [Presentation] てんかんの遺伝子診断up to date~遺伝情報に基づく個別化治療戦略と遺伝子診断ツールの開発~2012

    • Author(s)
      吉田秀一
    • Organizer
      第46回日本てんかん学会 シンポジウム3:個別化治療up to date
    • Place of Presentation
      東京
    • Related Report
      2012 Research-status Report
  • [Presentation] Predicting SCN1A-related Epilepsy Phenotypes Based on the Functional Effect in SCN1A with the Amino-Acid Substitution2012

    • Author(s)
      吉田秀一、清水俊夫、兼子直、西尾卓広
    • Organizer
      Joint Conference on Informatics in Biology, Medicine and Pharmacology
    • Place of Presentation
      東京
    • Related Report
      2012 Research-status Report
  • [Book] てんかんとイオンチャネル,別冊医学のあゆみ特集 : イオンチャネル病のすべて2014

    • Author(s)
      吉田秀一,兼子直
    • Publisher
      医歯薬出版
    • Related Report
      2013 Final Research Report
  • [Book] 別冊 医学のあゆみ2014

    • Author(s)
      吉田秀一, 兼子 直
    • Total Pages
      5
    • Publisher
      医歯薬出版
    • Related Report
      2013 Annual Research Report
  • [Book] 第1章総論C.てんかんとチャネル・遺伝子異常/第4章治療4.薬剤感受性と遺伝子polymorphism,シリーズアクチュアル脳・神経疾患の臨床てんかんテキストNew Version2012

    • Author(s)
      兼子直,吉田秀一
    • Publisher
      中山書店
    • Related Report
      2013 Final Research Report
  • [Book] I. てんかんとは/VII. てんかんと遺伝, てんかん教室第3版(兼子直編)2012

    • Author(s)
      吉田秀一,兼子
    • Publisher
      新興医学出版
    • Related Report
      2013 Final Research Report
  • [Book] シリーズ アクチュアル 脳・神経疾患の臨床「てんかんテキストNew Version」2012

    • Author(s)
      兼子直, 吉田秀一
    • Publisher
      中山書店
    • Related Report
      2012 Research-status Report
  • [Book] シリーズ アクチュアル 脳・神経疾患の臨床「てんかんテキストNew Version」2012

    • Author(s)
      吉田秀一, 猿渡淳二
    • Publisher
      中山書店
    • Related Report
      2012 Research-status Report
  • [Book] てんかん教室第3版(兼子直編)2012

    • Author(s)
      吉田秀一, 兼子直
    • Publisher
      新興医学出版
    • Related Report
      2012 Research-status Report
  • [Book] 最新医学別冊 新しい診断と治療のABC 74/神経5 てんかん2012

    • Author(s)
      菅原貴征, 吉田秀一, 兼子直
    • Publisher
      最新医学社
    • Related Report
      2012 Research-status Report

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Published: 2013-05-31   Modified: 2019-07-29  

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