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Genetic studies for the drug-induced interstitial lung disease and the acute exacerbation of idiopathic pulmonary fibrosis

Research Project

Project/Area Number 21390258
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Respiratory organ internal medicine
Research InstitutionSaitama Medical University

Principal Investigator

HAGIWARA Koichi  埼玉医科大学, 医学部, 教授 (00240705)

Project Period (FY) 2009 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥17,420,000 (Direct Cost: ¥13,400,000、Indirect Cost: ¥4,020,000)
Fiscal Year 2011: ¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2010: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2009: ¥6,630,000 (Direct Cost: ¥5,100,000、Indirect Cost: ¥1,530,000)
Keywords薬剤性肺障害 / ゲノムワイド解析 / gefitinib / 特発性肺線維症 / 急性増悪 / SNP / exome / 遺伝解析 / tyrosine kinase / 全ゲノムSNP解析 / ホモ接合ハプロタイプ法 / GWAS / ホモ接合指紋法 / HM on HH / GWS+ / HM on zHH
Research Abstract

The aim of the current study is to identify the genetic factor(s) involved in the drug-induced interstitial lung disease and the acute exacerbation of idiopathic pulmonary fibrosis.
Using the exome sequencing analysis performed on DNA from 18 patient with gefitinib-induced interstitial lung disease, we have identified 2 genes that bear alterations that are specific to Japanese. These 2 genes are located in the signal transduction pathway of tyrosine kinases, and may be responsible to the etiology of the disease. We are currently performing the functional analyses of these genetic alterations.

Report

(4 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (26 results)

All 2012 2011 2010 2009 Other

All Journal Article (19 results) (of which Peer Reviewed: 10 results) Presentation (3 results) Remarks (3 results) Patent(Industrial Property Rights) (1 results) (of which Overseas: 1 results)

  • [Journal Article] Involvement of surfactant protein D in emphysema revealed by genetic association study2012

    • Author(s)
      Ishii, T., et al.
    • Journal Title

      Eur J Hum Genet

      Volume: 20(2) Pages: 230-5

    • Related Report
      2011 Final Research Report
  • [Journal Article] Identification of FGF7 as a novel susceptibility locus for chronic obstructive pulmonary disease2011

    • Author(s)
      Brehm, J. M., et al.
    • Journal Title

      Thorax

      Volume: 66(12) Pages: 1085-90

    • Related Report
      2011 Final Research Report
  • [Journal Article] Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients2011

    • Author(s)
      Hagiwar, a K., et al.
    • Journal Title

      PLoS ONE

      Volume: 6(9)

    • Related Report
      2011 Final Research Report
  • [Journal Article] 【分子標的薬剤・生物学的製剤と肺障害】薬剤性肺障害日本人の特殊性2011

    • Author(s)
      吾妻安良太, 萩原弘一
    • Journal Title

      成人病と生活習慣病

      Volume: 41 Pages: 867-874

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] 呼吸器疾患の遺伝解析2011

    • Author(s)
      萩原弘一
    • Journal Title

      日本内科学会雑誌

      Volume: 100(9) Pages: 2695-2701

    • NAID

      10029749485

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients2011

    • Author(s)
      Hagiwara K, et al
    • Journal Title

      PLoS ONE

      Volume: 6

    • NAID

      120005300511

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identification of FGF7 as a novel susceptibility locus for chronic obstructive pulmonary disease2011

    • Author(s)
      Brehm, J.M., et al
    • Journal Title

      Thorzx

      Volume: 66 Pages: 1085-90

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Pulmonary Alveolar Microlithiasis., in Molecular Basis of Lung Disease2010

    • Author(s)
      Hagiwara, K., T. Johkoh, and T. Tachibana
    • Journal Title

      Insights from Rare Lung Disorders

    • Related Report
      2011 Final Research Report
  • [Journal Article] A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data2010

    • Author(s)
      Huqun, et al.
    • Journal Title

      BMC Bioinformatics

      Volume: 7

    • Related Report
      2011 Final Research Report
  • [Journal Article] Gefitinib or chemotherapy for non-small-cell lung cancer with mutated EGFR2010

    • Author(s)
      Maemondo, M., et al.
    • Journal Title

      N Engl J Med

      Volume: 362(25) Pages: 2380-8

    • Related Report
      2011 Final Research Report
  • [Journal Article] Frequency of and variables associated with the EGFR mutation and its subtypes2010

    • Author(s)
      Tanaka, T., et al.
    • Journal Title

      Int J Cancer

      Volume: 126(3) Pages: 651-5

    • Related Report
      2011 Final Research Report
  • [Journal Article] 治療のピットフォール薬剤性肺障害本人における特性2010

    • Author(s)
      萩原弘一
    • Journal Title

      治療学

      Volume: 44(5) Pages: 591-593

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutations of optineurin in amyotrophic lateral sclerosis2010

    • Author(s)
      丸山博文, ら
    • Journal Title

      Nature

      Volume: 465 Pages: 223-226

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Gefitinib or chemotherapy for non-small-cell lung cancer with mutated EGFR2010

    • Author(s)
      前門戸任, ら
    • Journal Title

      New Engl J Med

      Volume: 362 Pages: 2380-2388

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Frequency of and variables associated with the EGFR mutation and its subtypes2010

    • Author(s)
      田中知明, ら
    • Journal Title

      Int J Cancer

      Volume: 126 Pages: 651-655

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] First-line gefitinib for patients with advanced non-small-cell lung cancer harboring epidermal growth factor receptor mutations without indication for chemotherapy2009

    • Author(s)
      Inoue, A., et al.
    • Journal Title

      J Clin Oncol

      Volume: 27(9) Pages: 1394-400

    • Related Report
      2011 Final Research Report
  • [Journal Article] A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study2009

    • Author(s)
      Ishihara, Y., et al.
    • Journal Title

      Thorax

      Volume: 64(4) Pages: 365-7

    • Related Report
      2011 Final Research Report
  • [Journal Article] 【間質性肺炎の成因と病態】特発性肺線維症患者のゲノムワイド関連解析2009

    • Author(s)
      萩原弘一
    • Journal Title

      炎症と免疫

      Volume: 17(6) Pages: 675-678

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] A case of pulmonary alveolar microlithiasis with an intragenetic deletion in SLC34A2 detected by a genome-wide SNP study2009

    • Author(s)
      Ishihara Yousuke
    • Journal Title

      Thorax 64

      Pages: 365-367

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Presentation] 筋萎縮性側索硬化症の原因遺伝子Optineurinの同定2010

    • Author(s)
      丸山博文, ら
    • Organizer
      人類遺伝学会
    • Place of Presentation
      埼玉・大宮
    • Year and Date
      2010-10-28
    • Related Report
      2010 Annual Research Report
  • [Presentation] 特発性肺線維症急性増悪、薬剤性肺障害の遺伝学的検討2010

    • Author(s)
      萩原弘一, 宮澤仁志, 田中知明, 鈴木朋子, 上田哲也, 森秀法, 小暮啓人, 片岡健介, 今野哲, 井上彰, 永川博康, 林龍二, 原田敏之, 冲永壮治, 千葉弘文, 前門戸任, 吾妻安良太, 有田真知子, 小林国彦, 田口善夫, 小倉高志, 岩崎博信, 谷口博之, 藤田結花, 貫和敏博, 杉山幸比古
    • Organizer
      第50回日本呼吸器学会学術講演会
    • Place of Presentation
      京都
    • Year and Date
      2010-04-26
    • Related Report
      2011 Final Research Report
  • [Presentation] SNP解析によりSLC34A2の欠失を証明しえた肺胞微石症の1例2009

    • Author(s)
      石原陽介
    • Organizer
      第49回日本呼吸器学会
    • Place of Presentation
      東京フォーラム
    • Year and Date
      2009-06-12
    • Related Report
      2009 Annual Research Report
  • [Remarks]

    • URL

      http://www.hhanalysis.com

    • Related Report
      2011 Final Research Report
  • [Remarks]

    • URL

      http://www.hhanalysis.com

    • Related Report
      2011 Annual Research Report
  • [Remarks]

    • URL

      http://www.hhanalysis.com

    • Related Report
      2010 Annual Research Report
  • [Patent(Industrial Property Rights)] HOMOLOGOUS HAPLOTYPE METHOD2009

    • Inventor(s)
      Koichi Hagiwara
    • Industrial Property Rights Holder
      Koichi Hagiwara
    • Filing Date
      2009-02-06
    • Related Report
      2011 Final Research Report
    • Overseas

URL: 

Published: 2009-04-01   Modified: 2016-04-21  

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