| H00081 | |
| H番号 | H00081 |
| 名称 | 橋本病 |
| 概要 | Hashimoto thyroiditis (HT) is a common form of chronic autoimmune thyroid disease (AITD), and is characterized by an inflammatory infiltrate of immunocytes that replace the parenchyma and induce thyroid enlargement, which eventually leads to gland fibrosis. Progressive thyrocyte depletion results in impaired thyroid hormone production and clinical hypothyroidism, a condition that involves a marked reduction of metabolic activity in various cells and tissues. AITDs 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 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Autoantigens: Thyroidperoxidase (TPO) [HSA:7173] Thyroglobulin (Tg) [HSA:7038] Na+/ I- symporter (NIS) [HSA:6528] |
| リンク | ICD-11: 5A03.20 ICD-10: E06.3 MeSH: D050031 |
| 文献 | PMID:11913070 著者 Stassi G, De Maria R. タイトル Autoimmune thyroid disease: new models of cell death in autoimmunity. 雑誌 Nat Rev Immunol 2:195-204 (2002) DOI:10.1038/nri750 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:15762980 著者 Chistiakov DA. タイトル Immunogenetics of Hashimoto's thyroiditis. 雑誌 J Autoimmune Dis 2:1 (2005) DOI:10.1186/1740-2557-2-1 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: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 |