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

• Project/Area Number: 16590903
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Endocrinology
• Research Institution: Kyoto 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
• Project Status: Completed (Fiscal Year 2005)
• Budget Amount: ¥3,500,000 (Direct Cost: ¥3,500,000); Fiscal Year 2005: ¥1,400,000 (Direct Cost: ¥1,400,000); Fiscal Year 2004: ¥2,100,000 (Direct Cost: ¥2,100,000)
• Keywords: Multi-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

• [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 Ameloblastoma (2005)
  • 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
  • NAID: 10016422213
  • 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
  • NAID: 40007016639
  • 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 syndrom (2005)
  • 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 Ameloblastoma (2005)
  • 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 laboratories (2005)
  • 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 internists (2005)
  • 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-consanguinity (2005)
  • 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 tests (2005)
  • 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] 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
  • NAID: 40007016639
• [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
• [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, 他
  • Journal Title: Archives of Dermatol Res. 296 Pages: 303-308
• [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] MEN1 (2004)
  • 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] 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
• [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