1997 Fiscal Year Final Research Report Summary
New genetic markers for Graves disease
| Project/Area Number |
08044274
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| Research Category |
Grant-in-Aid for international Scientific Research
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| Allocation Type | Single-year Grants |
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| Section | Joint Research |
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| Research Field |
内分泌・代謝学
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| Research Institution | KYOTO UNIVERSITY |
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Principal Investigator |
AKAMIZU Takashi Kyoto Univ.Graduate.Sch.of Med.Assist., 医学研究科, 助手 (20231813)
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| Co-Investigator(Kenkyū-buntansha) |
MATSUDA Fumihiko Kyoto Univ.Graduate.Sch.of med.Assist., 医学研究科, 助手 (50212220)
BOWDEN Donald BOWMAN Mde.Univ Dept.of.Biochem. Professor, 生化学, 教授
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| Project Period (FY) |
1996 – 1997
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| Keywords | Graves' disease, / genetic factor, / microsatellite polymorphism, / TSH receptor, / genetic marker / autoimmune thyroid disease |
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| Research Abstract |
To examine the genetic contribution of the thyrotropin receptor (TSHR) gene to autoimmune thyroid disease (AITD), we identified a dinucleotide repeat polymorphism near the TSHR gene which mapped to an 8.6 cM interval between Dl4S74 and Dl4S55 on the long arm of human chromosome 14. Association studies revealed a significant difference (p=3.8xl0^<-5>) between the TSHR microsatellite allele frequency distribution in 81 unrelated Japanese AITD patients and 113 Japanese controls, with a significant increase in the 180 bp allele (allele 1) of the microsatellite sequence (p=5.8x10^<-7>). The risk for AITD with the 180 bp allele was 3.5, with association highly significant in female patients (p=1.1xl0^<-5>) and less dramatic, but still significant, in males (p=0.02). These results suggest that the 180bp allele of the TSHR microsatellite is associated with a susceptibility locus for AITD in Japanese patients. The TSHR codon 52 (C_<52> A_<52>) transition mutation was not observed in the Japanese.
Two additional genetic markers have been evaluated for association in the Japanese AITD patients. A polymorphism for the CTLA-4 gene was genotyped and, while association with AITD was not observed (p=0.15), a significant association was observed between CTLA-4 alleles of 110 bp (p=0.01) and 106 bp (p=0.004) and susceptibility to primary hypothyroidism or idiopathic myxedema respectively.
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Research Products
(30 results)
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[Publications] Akamizu T,Sale MM,Yokota T,Nakao K,Mori T,Iwasaki H,Yoshimura H,Ito K,Rich SS,Jennings-Gee JE,Bow den DW.: "Isolation of a microsatellite marker for the thyrotropin receptor gene and its association with autoimmune thyroid diseases in a Japanese population." Thyroid. 7 (abst). 515 (1997)
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「研究成果報告書概要(欧文)」より
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[Publications] Sale MM,Akamizu T,Howard TD,Yokota T,Nakao K,Mori T,Iwasaki H,Rich SS,Jennings-Gee JE,Yamada M,Bowden. DW.: "Association of autoimmune thyroid disease with a microsatellite marker for the thyrotropin receptor gene and CTLA-4 in a Japanese population." Proc Assoc Amer Physician. 109. 453-461 (1997)
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[Publications] Koshiyama H,Sellittl DF,Akamizu T,Doi SO,Takauchi Y,Inoue D,Sakaguchi H,Takemura G,Sato Y,Takatsu Y,Nakao K: "Canbonyopathy associated with Graves disease." Clinical Endo crinol. 45. 111-116 (1996)
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