| H00082 | |
| H番号 | H00082 |
| 名称 | グレーブス病 |
| 概要 | Graves disease is a common form of chronic autoimmune thyroid disease (AITD), and is characterized by overstimulation of the thyroid gland with agonistic anti-thyrotropin (TSH) receptor autoantibodies. This overstimulation leads to follicular hypertrophy and hyperplasia, causing thyroid enlargement, as well as increases in thyroid hormone production and the fraction of triiodothyronine (T3) relative to thyroxine (T4) in thyroid secretion. Thyroid autoimmune diseases are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility loci for AITD, namely case control candidate gene studies and genome-wide linkage screens. Case control candidate gene studies have been employed to investigate numerous genes for association with AITD, but to date, only the human leucocyte region (HLA) on chromosome 6p21 and the cytotoxic T lymphocyte associated 4 (CTLA-4) gene on chromosome 2q33 have been consistently shown to be associated with disease. |
| カテゴリ | 免疫系疾患 疾患パスウェイ hsa05320 自己免疫性甲状腺疾患 |
| ネットワーク | - |
| 病因遺伝子 | HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752] HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752] HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752] CTLA-4 (polymorphism) [HSA:1493] [KO:K06538] |
| 病原体 | Yersinia enterocolitica |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Autoantigen: TSH-R [HSA:7253] |
| リンク | ICD-11: 5A02.0 ICD-10: E05.0 MeSH: D006111 |
| 文献 | PMID:15049952 著者 Fountoulakis S, Tsatsoulis A. タイトル On the pathogenesis of autoimmune thyroid disease: a unifying hypothesis. 雑誌 Clin Endocrinol (Oxf) 60:397-409 (2004) DOI:10.1046/j.1365-2265.2004.01978.x PMID:15030506 著者 Simmonds MJ, Gough SC. タイトル Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. 雑誌 Clin Exp Immunol 136:1-10 (2004) DOI:10.1111/j.1365-2249.2004.02424.x PMID:12734493 著者 Ai J, Leonhardt JM, Heymann WR. タイトル Autoimmune thyroid diseases: etiology, pathogenesis, and dermatologic manifestations. 雑誌 J Am Acad Dermatol 48:641-59; quiz 660-2 (2003) DOI:10.1067/mjd.2003.257 PMID:15132715 著者 Prummel MF, Strieder T, Wiersinga WM. タイトル The environment and autoimmune thyroid diseases. 雑誌 Eur J Endocrinol 150:605-18 (2004) DOI:10.1530/eje.0.1500605 PMID:18550875 著者 Brent GA. タイトル Clinical practice. Graves' disease. 雑誌 N Engl J Med 358:2594-605 (2008) DOI:10.1056/NEJMcp0801880 PMID:16127951 著者 Reid JR, Wheeler SF. タイトル Hyperthyroidism: diagnosis and treatment. 雑誌 Am Fam Physician 72:623-30 (2005) PMID:11396701 著者 Ruwhof C, Drexhage HA. タイトル Iodine and thyroid autoimmune disease in animal models. 雑誌 Thyroid 11:427-36 (2001) DOI:10.1089/105072501300176381 PMID:15135604 著者 Scofield RH. タイトル Autoantibodies as predictors of disease. 雑誌 Lancet 363:1544-6 (2004) DOI:10.1016/S0140-6736(04)16154-0 |