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2005 Fiscal Year Final Research Report Summary

Genome-wide association study of susceptibility genes for Graves' disease

Research Project

Project/Area Number 16590903
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Endocrinology
Research InstitutionKyoto University

Principal Investigator

KOSUGI Shinji  Kyoto University, Graduate School of Medicine, Professor, 医学研究科, 教授 (50252432)

Co-Investigator(Kenkyū-buntansha) INOKO Hidetoshi  Tokai University, School of Medicine, Professor, 医学部, 教授 (10101932)
Project Period (FY) 2004 – 2005
KeywordsMulti-factorial disease / disease-susceptibility gene / pooled DNA method / microsatellite / association study / case-control study
Research Abstract

We performed genetic analysis of Graves' disease. Association study of susceptibility genes for Graves' disease using 30,000 microsatellite markers distributed in the entire genome was done with 200 Graves' samples and 200 healthy controls. 14% markers were statistically significantly different between cases and controls. Those were tested with different samples as second screening. 1.5% markers were statistically significant and will be re-examined in the third screening.

  • Research Products

    (30 results)

All 2006 2005 2004 Other

All Journal Article (30 results)

  • [Journal Article] Extending the clinical heterogeneity of iodide transport defect (ITD) : A novel mutation R124H of the sodium/iodide symporter (NIS) gene and review of genotype-phenotype correlations in ITD.2006

    • Author(s)
      Szinnai G, Kosugi S, et al.
    • Journal Title

      J Clin Endocrinol Metab (In press)

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] ヨード濃縮障害(NIS異常症)2006

    • Author(s)
      小杉眞司
    • Journal Title

      日本臨床 (印刷中)

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Iodide transport defect.2006

    • Author(s)
      Kosugi S.
    • Journal Title

      Nippon Rinsho (in press)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Polymorphisms in PTCH1 Affect the Risk of Ameloblastoma2005

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

      J Dent Res 84(9)

      Pages: 812-816

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Multiple endocrine neoplasia type 1 gene mutations in sporadic gastrinomas in Japan.2005

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

      Oncol Rep. 14(1)

      Pages: 47-52

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Multiple endocrine neoplasia type 1 presenting as psychosis.2005

    • Author(s)
      Kito S, et al.
    • Journal Title

      Am J Psychiatry. 162(4)

      Pages: 810-1

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] 内科医に必要な遺伝相談(遺伝カウンセリング)の基礎知識2005

    • Author(s)
      小杉眞司
    • Journal Title

      日本内科学会雑誌 94(5)

      Pages: 125-130

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] ありふれた疾患(Common Disease)の遺伝子診断の臨床的有用性の評価2005

    • Author(s)
      小杉眞司
    • Journal Title

      医学のあゆみ 213(4)

      Pages: 291-296

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] 遺伝カウンセリングケースレポート(19) 白皮症-いとこ婚-2005

    • Author(s)
      沼部博直, 小杉眞司
    • Journal Title

      小児科診療 68(2)

      Pages: 2442-2444

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] 遺伝子検査に関するウェブサイト2005

    • Author(s)
      沼部博直, 小杉眞司
    • Journal Title

      小児内科 37(10)

      Pages: 1405-1411

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] 臨床遺伝会社で行われている遺伝学的検査,遺伝子検査,核酸検査。2005

    • Author(s)
      沼部博直, 小杉眞司
    • Journal Title

      日本臨床 63増刊号 12

      Pages: 707-731

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Germline Mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrom2005

    • Author(s)
      Tanioka M, Takahashi K, Kawabata T, Kosugi S, 他
    • Journal Title

      Archives of Dermatol Res. 296

      Pages: 303-308

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] Germline Mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome.2005

    • Author(s)
      Tanioka M, Takahashi K, Kawabata T, Kosugi S, Murakami K, Miyachi Y, Nishigori C, Iizuka T.
    • Journal Title

      Archives of Dermatol Res 296

      Pages: 303-308

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Polymorphisms in PTCH1 Affect the Risk of Ameloblastoma2005

    • Author(s)
      T.Kawabata, K.Takahashi, M.Sugai, A.Murashima-Suginami, S.Ando, A.Shimizu, S.Kosugi, T.Sato, M.Nishida, K.Murakami, T.Iizuka
    • Journal Title

      J Dent Res 84(9)

      Pages: 812-816

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Multiple endocrine neoplasia type 1 gene mutations in sporadic gastrinomas in Japan.2005

    • Author(s)
      Kawamura J, Shimada Y, Komoto I, Okamoto H, Itami A, Doi R, Fujimoto K, Kosugi S, Imamura M.
    • Journal Title

      Oncol Rep. 14(1)

      Pages: 47-52

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Multiple endocrine neoplasia type 1 presenting as psychosis.2005

    • Author(s)
      Kito S, Nakajima T, Yamadera H, Koga Y, Kosugi S, Hai N.
    • Journal Title

      Am J Psychiatry. 162(4)

      Pages: 810-811

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Genetic, genomic and nucleic acid testing services provided by commercial laboratories2005

    • Author(s)
      Numabe H, Kosugi S
    • Journal Title

      Nippon Rinsho 2005 Dec 63 Suppl 12

      Pages: 707-731

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Basic knowledge on genetic counseling that is necessary for internists2005

    • Author(s)
      Kosugi S.
    • Journal Title

      Nippon Naika Gakkai Zasshi 10;94(5)

      Pages: 937-938

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Genetic Counselling case report : albinism-consanguinity2005

    • Author(s)
      Numabe H, Kosugi S.
    • Journal Title

      Shouni Naika 68(2)

      Pages: 2442-2444

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Websites for gene tests2005

    • Author(s)
      Numabe H, Kosugi S.
    • Journal Title

      Shouni Naika 37(10)

      Pages: 1405-1411

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Evaluation of clinical usefulness of genetic diagnosis of common diseases.2005

    • Author(s)
      Kosugi S.
    • Journal Title

      Igakunoayumi 213(4)

      Pages: 291-296

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] MEN(多発性内分泌腺腫症1型および2型)。2004

    • Author(s)
      小杉眞司
    • Journal Title

      ゲノム医学 4

      Pages: 175-178

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] 遺伝子検査でわかること2004

    • Author(s)
      小杉眞司
    • Journal Title

      一般外来でできる遺伝相談(医学書院)

      Pages: 155-159

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] 可能性としての遺伝子診断2004

    • Author(s)
      小杉眞司
    • Journal Title

      市民のための「遺伝子問題入門」(岩波書店)

      Pages: 107-131

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] 遺伝性の癌「がん抑制遺伝子とがん遺伝子」2004

    • Author(s)
      玉田愛子, 小杉眞司
    • Journal Title

      家庭医学大全科法研

      Pages: 2986-2992

    • Description
      「研究成果報告書概要(和文)」より
  • [Journal Article] MEN12004

    • Author(s)
      Kosugi S.
    • Journal Title

      Genomu Igaku 4

      Pages: 175-178

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Gene tests.2004

    • Author(s)
      Kosugi S.
    • Journal Title

      Genetic Counselling in GP.

      Pages: 155-159

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Possibility of gene tests.2004

    • Author(s)
      Kosugi S.
    • Journal Title

      Intorduction to genetic issues.

      Pages: 107-131

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Hereditary Cancer : tumor-suppressor genes and prptponcogenes.2004

    • Author(s)
      Tamada A, Kosugi S.
    • Journal Title

      Kateiigakudaizennka.

      Pages: 2986-2992

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Exending the clinical heterogeneity of iodide transport defect (ITD) : A novel mutation R124H of the sodium/iodide symporter (NIS) gene and review of genotype-phenotype correlations in ITD.

    • Author(s)
      Szinnai G, Kosugi S, Derrien C, Lucidarme N, David V, Ozernichow P, Polak M
    • Journal Title

      J Clin Endocrinol Metab (in press)

    • Description
      「研究成果報告書概要(欧文)」より

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Published: 2007-12-13  

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