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A study of disease- and drug metabolism-associated polymorphisms using forensic specimen

Research Project

Project/Area Number 16K19295
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Legal medicine
Research InstitutionShimane University

Principal Investigator

Kimura-Kataoka Kaori  島根大学, 医学部, 助教 (80574011)

Research Collaborator TAKESHITA Haruo  
FUJIHARA Junko  
YASUDA Toshihiro  
Project Period (FY) 2016-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
Keywords遺伝子多型 / 疾患感受性 / 法医学的試料 / 疾患・薬毒物代謝
Outline of Final Research Achievements

The purpose of this study was to identify polymorphisms associated with diseases and drug metabolism from forensic specimen.
Among 61 non-synonymous single nucleotide polymorphisms (SNP) in DNASE1, only Q244R was polymorphic. Among 21 SNPs in DN1L1, V122I indicated genetic polymorphism in Caucasians. All of the 64 SNPs in DN1L2 were monomorphic. Among 40 SNPs in DN1L3, R206C and W215G were polymorphic among Caucasians. Among 31 SNPs in DNASE2, only V206I was polymorphic among Koreans. We have concluded PolyPhen-2 is effective in prediction of enzyme function abolishment by amino acid substitutions using PolyPhen-2.
2 SNPs in HMGA2 illustrated significant associations with height, right kidney weight and brain weight in Caucasians and Japanese. SNP in GHR was found to be associated with heart weight, left cardiac weight, cardiac hypertrophic coefficient, body surface area, right lung weight and kidney weights.

Report

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

    (9 results)

All 2017 2016

All Journal Article (4 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 4 results,  Acknowledgement Compliant: 2 results,  Open Access: 1 results) Presentation (5 results)

  • [Journal Article] Simple screening method for copy number variations associated with physical features2017

    • Author(s)
      M Ueki, H Takeshita, J Fujihara, K Kimura-Kataoka, R Iida, T Yasuda
    • Journal Title

      Legal Med

      Volume: 25 Pages: 71-74

    • DOI

      10.1016/j.legalmed.2017.01.006

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Survey of single-nucleotide polymorphisms in the gene encoding human deoxyribonuclease I-like 2 producing loss of function potentially implicated in the pathogenesis of parakeratosis2017

    • Author(s)
      Ueki Misuzu、Takeshita Haruo、Utsunomiya Natsuko、Chino Takanao、Oyama Noritaka、Hasegawa Minoru、Kimura-Kataoka Kaori、Fujihara Junko、Iida Reiko、Yasuda Toshihiro
    • Journal Title

      PLOS ONE

      Volume: 12 Issue: 4 Pages: e0175083-e0175083

    • DOI

      10.1371/journal.pone.0175083

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Functional single nucleotide polymorphisms (SNPs) in the genes encoding the human deoxyribonuclease (DNase) family potentially relevant to autoimmunity.2016

    • Author(s)
      Fujihara J, Ueki M, Kimura-Kataoka K, Iida R, Takeshita H, Yasuda T.
    • Journal Title

      Immunol. Invest.

      Volume: 45 Issue: 5 Pages: 406-419

    • DOI

      10.3109/08820139.2016.1157813

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Association of a single-nucleotide polymorphism (rs6180) in GHR gene with plural tissue weight2016

    • Author(s)
      Fujihara J, Kimura-Kataoka K, Yasuda T, Sano R, Kominato Y, Takeshita H.
    • Journal Title

      J Genet

      Volume: 95 Pages: 189-192

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
  • [Presentation] 自己免疫疾患に関するヒトDNase family遺伝子のfunctional SNPs.2017

    • Author(s)
      安田年博,飯田礼子,植木美鈴,竹下治男,藤原純子,木村かおり,山田和夫,河合康幸.
    • Organizer
      第101次日本法医学会学術全国集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 塩基除去修復(BER)経路に関わるDNA polymerase β(POLB)遺伝子多型の世界分布.2017

    • Author(s)
      木村かおり,藤原純子,山田和夫,安田年博,竹下治男.
    • Organizer
      DNA多型学会 第26回学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 国内外の多集団におけるInterleukin 8遺伝子(CXCL8)内-251A/T多型解析においてみられた地理的勾配および喫煙率との相関.2017

    • Author(s)
      竹下治男,藤原純子,木村かおり,山田和夫,安田年博.
    • Organizer
      第34回日本法医学会 学術中四国地方集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 日本国内および世界人口におけるインターロイキン8内 -251A/T多型解析2016

    • Author(s)
      木村かおり,藤原純子,安田年博,倉田さつき,小湊慶彦,佐野利恵,山田和夫,竹下治男
    • Organizer
      DNA多型学会 第25回学術集会
    • Place of Presentation
      千葉(東京大学 大気海洋研究所)
    • Related Report
      2016 Research-status Report
  • [Presentation] 質量分析を用いたストレスマーカーの一斉定量法の開発とその法医解剖への応用へ向けて2016

    • Author(s)
      山田和夫,藤原純子,木村かおり,松本健一,安田年博,竹下治男
    • Organizer
      第33回日本法医学会学術中四国地方集会
    • Place of Presentation
      山口(山口大学医学部 霜仁会館)
    • Related Report
      2016 Research-status Report

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Published: 2016-04-21   Modified: 2019-03-29  

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