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AITD1  -  Autoimmune thyroid disease, susceptibility...

Homo sapiens

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Disease relevance of AITD1

  • The autoimmune thyroid diseases (AITD), encompassing Graves' disease (GD) and Hashimoto's thyroiditis (HT), occur in genetically susceptible individuals [1].
  • We studied the immune responses of 33 patients with autoimmune thyroid disease (AITD; including 17 with Hashimoto's thyroiditis and 16 with Graves' disease), 5 patients with non-AITD, 12 control subjects (CS), and 2 subjects with a family history of autoimmunity to the main thyroid antigens [2].
  • The aims of the study were to assess whether women with AITD constitute a group at risk of developing subclinical hypothyroidism during pregnancy, and whether a mild thyroid function impairment may be associated with obstetrical repercussions [3].
  • In order to determine the phenotype of the cells required for thyroid autoantibody production, peripheral blood mononuclear cells (PBMC) from patients with autoimmune thyroid disease (AITD) were transferred to severe combined immunodeficient (SCID) mice [4].
  • Ten out of 75 (13.3%) TS patients had AITD: eight had autoimmune thyroiditis (AT) (six with subclinical and two with overt hypothyroidism and one with euthyroidism) and one had Graves' disease [5].

High impact information on AITD1

  • The autoimmune thyroid diseases (AITD) are complex diseases that are caused by an interaction between susceptibility genes and environmental triggers [6].
  • Various techniques have been used to identify the genes contributing to the etiology of AITD, including candidate gene analysis and whole genome screening [6].
  • Classical AITD (i.e. Graves' disease and Hashimoto's thyroiditis) has been shown to be associated with a variety of infectious agents (e.g. Yersinia enterocolitica, retroviruses) while infections of the thyroid gland (e.g. subacute thyroiditis, congenital rubella) have been shown to be associated with thyroid autoimmune phenomena [7].
  • A combination of at least two Tg SNPs conferred susceptibility to human AITD [8].
  • We performed a whole-genome linkage study in an expanded data set of 102 multiplex families with AITD (540 individuals), through use of 400 microsatellite markers [9].

Chemical compound and disease context of AITD1


Biological context of AITD1


Anatomical context of AITD1

  • CD8-positive T-cell depletion from PBMC of 8 patients with AITD by the indirect panning method did not enhance the reactivity to hrecTSHR-ECD, except in 1 patient [17].
  • Susceptibility genes for autoimmune thyroid disease (AITD) have been investigated, although only the human leukocyte antigen and cytotoxic T lymphocyte-associated antigen-4 gene regions have been consistently associated with disease [18].
  • We have postulated over many years that autoimmune thyroid diseases (AITD) are disorders of immunoregulation due to antigen specific defect(s) in suppressor (regulatory) T (Ts) lymphocyte function [19].
  • While these reductions in activation are partial only, and other additive factors playing on the immune system may be necessary to precipitate AITD, this disorder in the activation of Ts cells may be fundamental to the development of these disorders [19].
  • Since SCID mice provide an environment in which B lymphocytes from patients with AITD can be activated without mitogen to secrete thyroid antibodies, this model will provide a powerful system for elucidating the mechanisms regulating the secretion of human antibodies to Tg and TPO [20].

Associations of AITD1 with chemical compounds

  • Rarity of anti- Na+/I- symporter (NIS) antibody with iodide uptake inhibiting activity in autoimmune thyroid diseases (AITD) [10].
  • None of the patients with AITD and controls had the tryptophan allele [21].
  • This revealed an association between peripheral blood cell numbers of specific lymphocyte subpopulations (CD4(+), CD3(+)CD25(+), and naïve T-cells) and serum levels of markers for AITD (free thyroxine [T(4)] and thyroid-stimulating immunoglobulin) [22].
  • Results found by TDT-STDT have confirmed the involvement of the TNF -308 gene polymorphism in AITD pathogenesis (p < 10(-9)) [23].
  • The pathophysiology of AITD is further affected by the actions of the thyrocyte in communicating with the immune system (thyrocyte-immunocyte signalling), through thyrocyte HLA-DR expression, thyroid antigen expression, and the effect of thyroid hormone itself on the immune system [24].

Other interactions of AITD1

  • We concluded that Tg is a susceptibility gene for AITD, both in humans in and in mice [8].
  • Six of the 13 peptides tested produced highly significant stimulation in PBMC (CS, 0-17%; AITD, 60-92%) and TPO TCL (73-91%) [2].
  • Additional non-HLA loci contribute to the joint susceptibility to T1D and AITD, and two potential candidates include the CTLA-4 and insulin VNTR loci [16].
  • TSHR-specific T-cell lines were developed in 16 of 26 AITD patients and 3 of 10 non-AITD patients [17].
  • In conclusion, treating patients with AITD with an antigen related to the autoantigen TG did not produce changes in humoral immunity parameters, while cellular immunity to certain peptides were apparently suppressed [25].

Analytical, diagnostic and therapeutic context of AITD1

  • Abundant epidemiological data, including family and twin studies, point to a strong genetic influence on the development of AITD [6].
  • Several investigators working with animal models have demonstrated T lymphocyte subsets that are regulatory, i.e., will prevent AITD; conversely, depletion of these cells precipitates the lesion in the experimental models [19].
  • PARTICIPANTS: Thirty-eight healthy twin siblings to twins with AITD and a control group of 76 healthy twins, matched for age, sex and zygosity, but without AITD among their first-degree relatives [26].
  • DESIGN: A cross-sectional study of healthy twin siblings to twins with AITD [26].
  • Epitope mapping studies suggest that TgAb in AITD patients express a restricted binding pattern while TgAb in the serum of healthy individuals do not show such specific binding [27].


  1. Mapping of a major susceptibility locus for Graves' disease (GD-1) to chromosome 14q31. Tomer, Y., Barbesino, G., Keddache, M., Greenberg, D.A., Davies, T.F. J. Clin. Endocrinol. Metab. (1997) [Pubmed]
  2. Proliferative responses of T-cells to thyroid antigens and synthetic thyroid peroxidase peptides in autoimmune thyroid disease. Fisfalen, M.E., Soliman, M., Okamoto, Y., Soltani, K., DeGroot, L.J. J. Clin. Endocrinol. Metab. (1995) [Pubmed]
  3. Risk of subclinical hypothyroidism in pregnant women with asymptomatic autoimmune thyroid disorders. Glinoer, D., Riahi, M., Grün, J.P., Kinthaert, J. J. Clin. Endocrinol. Metab. (1994) [Pubmed]
  4. Control of human thyroid autoantibody production in SCID mice. Macht, L.M., Corrall, R.J., Banga, J.P., Elson, C.J. Clin. Exp. Immunol. (1993) [Pubmed]
  5. Autoimmune hypothyroidism and hyperthyroidism in patients with Turner's syndrome. Chiovato, L., Larizza, D., Bendinelli, G., Tonacchera, M., Marinó, M., Mammoli, C., Lorini, R., Severi, F., Pinchera, A. Eur. J. Endocrinol. (1996) [Pubmed]
  6. Searching for the autoimmune thyroid disease susceptibility genes: from gene mapping to gene function. Tomer, Y., Davies, T.F. Endocr. Rev. (2003) [Pubmed]
  7. Infection, thyroid disease, and autoimmunity. Tomer, Y., Davies, T.F. Endocr. Rev. (1993) [Pubmed]
  8. Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease. Ban, Y., Greenberg, D.A., Concepcion, E., Skrabanek, L., Villanueva, R., Tomer, Y. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  9. Common and unique susceptibility loci in Graves and Hashimoto diseases: results of whole-genome screening in a data set of 102 multiplex families. Tomer, Y., Ban, Y., Concepcion, E., Barbesino, G., Villanueva, R., Greenberg, D.A., Davies, T.F. Am. J. Hum. Genet. (2003) [Pubmed]
  10. Rarity of anti- Na+/I- symporter (NIS) antibody with iodide uptake inhibiting activity in autoimmune thyroid diseases (AITD). Chin, H.S., Chin, D.K., Morgenthaler, N.G., Vassart, G., Costagliola, S. J. Clin. Endocrinol. Metab. (2000) [Pubmed]
  11. High prevalence of subclinical Sjögren's syndrome features in patients with autoimmune thyroid disease. Coll, J., Anglada, J., Tomas, S., Reth, P., Goday, A., Millan, M., Pujol-Borrell, R., Corominas, J. J. Rheumatol. (1997) [Pubmed]
  12. Expression of genes for certain enzymes of pyrimidine and purine salvage pathway in peripheral blood leukocytes collected from patients with Graves' or Hashimoto's disease. Karbownik, M., Brzeziańska, E., Zasada, K., Lewiński, A. J. Cell. Biochem. (2003) [Pubmed]
  13. Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2. Alkhateeb, A., Stetler, G.L., Old, W., Talbert, J., Uhlhorn, C., Taylor, M., Fox, A., Miller, C., Dills, D.G., Ridgway, E.C., Bennett, D.C., Fain, P.R., Spritz, R.A. Hum. Mol. Genet. (2002) [Pubmed]
  14. Thyroglobulin is a thyroid specific gene for the familial autoimmune thyroid diseases. Tomer, Y., Greenberg, D.A., Concepcion, E., Ban, Y., Davies, T.F. J. Clin. Endocrinol. Metab. (2002) [Pubmed]
  15. Common allelic variants of exons 10, 12, and 33 of the thyroglobulin gene are not associated with autoimmune thyroid disease in the United Kingdom. Collins, J.E., Heward, J.M., Howson, J.M., Foxall, H., Carr-Smith, J., Franklyn, J.A., Gough, S.C. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  16. Genetic analysis of families with autoimmune diabetes and thyroiditis: evidence for common and unique genes. Golden, B., Levin, L., Ban, Y., Concepcion, E., Greenberg, D.A., Tomer, Y. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  17. T-cell reactivity to recombinant human thyrotropin receptor extracellular domain and thyroglobulin in patients with autoimmune and nonautoimmune thyroid diseases. Soliman, M., Kaplan, E., Fisfalen, M.E., Okamoto, Y., DeGroot, L.J. J. Clin. Endocrinol. Metab. (1995) [Pubmed]
  18. Association of a rare thyroglobulin gene microsatellite variant with autoimmune thyroid disease. Collins, J.E., Heward, J.M., Carr-Smith, J., Daykin, J., Franklyn, J.A., Gough, S.C. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  19. Immunoregulation in autoimmune thyroid disease. Volpé, R. Thyroid (1994) [Pubmed]
  20. Severe combined immunodeficient (SCID) mice: a model for investigating human thyroid autoantibody synthesis. Macht, L., Fukuma, N., Leader, K., Sarsero, D., Pegg, C.A., Phillips, D.I., Yates, P., McLachlan, S.M., Elson, C., Rees Smith, B. Clin. Exp. Immunol. (1991) [Pubmed]
  21. The codon 620 single nucleotide polymorphism of the protein tyrosine phosphatase-22 gene does not contribute to autoimmune thyroid disease susceptibility in the Japanese. Ban, Y., Tozaki, T., Taniyama, M., Tomita, M., Ban, Y. Thyroid (2005) [Pubmed]
  22. Graves' disease after interleukin-2 therapy in a patient with human immunodeficiency virus infection. Jimenez, C., Moran, S.A., Sereti, I., Wynne, S., Yen, P.M., Falloon, J., Davey, R.T., Sarlis, N.J. Thyroid (2004) [Pubmed]
  23. Analysis of MHC genes in a Tunisian isolate with autoimmune thyroid diseases: implication of TNF -308 gene polymorphism. Bougacha-Elleuch, N., Rebai, A., Mnif, M., Makni, H., Bellassouad, M., Jouida, J., Abid, M., Hammadi, A. J. Autoimmun. (2004) [Pubmed]
  24. The pathophysiology of autoimmune thyroid disease. Volpe, R. Endocrine regulations. (1991) [Pubmed]
  25. Induction of oral tolerance in human autoimmune thyroid disease. Lee, S., Scherberg, N., DeGroot, L.J. Thyroid (1998) [Pubmed]
  26. Aggregation of thyroid autoantibodies in first-degree relatives of patients with autoimmune thyroid disease is mainly due to genes: a twin study. Brix, T.H., Hansen, P.S., Kyvik, K.O., Hegedüs, L. Clin. Endocrinol. (Oxf) (2004) [Pubmed]
  27. Thyroglobulin: current aspects of its role in autoimmune thyroid disease and thyroid cancer. Okosieme, O.E., Parkes, A.B., Premawardhana, L.D., Evans, C., Lazarus, J.H. Minerva Med. (2003) [Pubmed]
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