The etiology of autoimmune thyroid disease: A story of genes and environment

Journal of Autoimmunity

Volumn 32, Issue 3-4, 2009, Pages 231-239

  Tomer, Yaron ^a   Huber, Amanda ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

Environment; Genes; Graves' Disease; Hashimoto's thyroiditis

Indexed keywords

ALEMTUZUMAB; ALPHA INTERFERON; AMIODARONE; AMPRENAVIR; CD40 ANTIGEN; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; HLA DQ ANTIGEN; HLA DR ANTIGEN; INTERFERON BETA SERINE; LAMIVUDINE; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; RITONAVIR; STAVUDINE; THYROGLOBULIN; THYROTROPIN RECEPTOR;

ARTICLE; AUTOIMMUNE THYROIDITIS; B LYMPHOCYTE; ENVIRONMENTAL FACTOR; EYELID RETRACTION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC PREDISPOSITION; GENETIC SCREENING; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; GOITER; GRAVES DISEASE; HASHIMOTO DISEASE; HEART ARRHYTHMIA; HEPATITIS; HEREDITY; HUMAN; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; HYPOTHYROIDISM; IMMUNOPATHOGENESIS; INFECTION; INSULIN DEPENDENT DIABETES MELLITUS; LIFE EVENT; LIFE STRESS; LINKAGE ANALYSIS; MAJOR HISTOCOMPATIBILITY COMPLEX; MULTIPLE SCLEROSIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RECEPTOR GENE; SIDE EFFECT; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; THYROTOXICOSIS;

ANTIGENS, CD; ANTIGENS, CD40; AUTOIMMUNITY; ENVIRONMENT; GENETIC PREDISPOSITION TO DISEASE; HLA-DR ANTIGENS; HUMANS; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22; RECEPTORS, THYROTROPIN; THYROGLOBULIN; THYROIDITIS, AUTOIMMUNE;

EID: 67349199596     PISSN: 08968411     EISSN: 10959157     Source Type: Journal    
DOI: 10.1016/j.jaut.2009.02.007     Document Type: Article

References (185)

1. Menconi F., Oppenheim Y.L., and Tomer Y. Graves' disease. In: Shoenfeld Y., Cervera R., and Gershwin M.E. (Eds). Diagnostic criteria in autoimmune diseases (2008), Humana Press, Totowa, NJ 231-235
2. Weetman A.P. Chronic autoimmune thyroiditis. In: Braverman L.E., and Utiger R.D. (Eds). Werner and Ingbar's the thyroid (2000), Lippincott Williams and Wilkins, Philadelphia 721-732
3. Stagnaro-Green A. Clinical review 152: postpartum thyroiditis. J Clin Endocrinol Metab 87 9 (2002) 4042-4047
4. Roti E., and Uberti E. Post-partum thyroiditis - a clinical update. Eur J Endocrinol 146 3 (2002) 275-279
5. Muller A.F., Drexhage H.A., and Berghout A. Postpartum thyroiditis and autoimmune thyroiditis in women of childbearing age: recent insights and consequences for antenatal and postnatal care. Endocr Rev 22 5 (2001) 605-630
6. Mandac J.C., Chaudhry S., Sherman K.E., and Tomer Y. The clinical and physiological spectrum of interferon-alpha induced thyroiditis: toward a new classification. Hepatology 43 4 (2006) 661-672
7. Dittmar M., and Kahaly G.J. Polyglandular autoimmune syndromes: immunogenetics and long-term follow-up. J Clin Endocrinol Metab 88 7 (2003) 2983-2992
8. Huber A., Menconi F., Corathers S., Jacobson E.M., and Tomer Y. Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms. Endocr Rev 29 6 (2008) 697-725
9. Jacobson E.M., and Tomer Y. The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: back to the future. J Autoimmun 28 (2007) 85-98
10. Jacobson E.M., Huber A., and Tomer Y. The HLA gene complex in thyroid autoimmunity: from epidemiology to etiology. J Autoimmun 30 1-2 (2008) 58-62
11. Ott J. Analysis of human genetic linkage. 3rd ed. (1999), Johns Hopkins University Press, Baltimore
12. Lander E., and Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11 (1995) 241-247
13. Woolf B. On estimating the relation between blood group and disease. Ann Hum Genet 19 (1955) 251-253
14. Hodge S.E. What association analysis can and cannot tell us about the genetics of complex disease. Am J Med Genet 54 (1994) 318-323
15. Tomer Y., Ban Y., Concepcion E., Barbesino G., Villanueva R., Greenberg D.A., et al. Common and unique susceptibility loci in Graves and Hashimoto diseases: results of whole-genome screening in a data set of 102 multiplex families. Am J Hum Genet 73 (2003) 736-747
16. Glazier A.M., Nadeau J.H., and Aitman T.J. Finding genes that underlie complex traits. Science 298 5602 (2002) 2345-2349
17. Altshuler D., Brooks L.D., Chakravarti A., Collins F.S., Daly M.J., and Donnelly P. A haplotype map of the human genome. Nature 437 7063 (2005) 1299-1320
18. Duerr R.H., Taylor K.D., Brant S.R., Rioux J.D., Silverberg M.S., Daly M.J., et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 314 5804 (2006) 1461-1463
19. Todd J.A., Acha-Orbea H., Bell J.I., Chao N., Fronek Z., Jacob C.O., et al. A molecular basis for MHC class II-associated autoimmunity. Science 240 4855 (1988) 1003-1009
20. Ban Y., Davies T.F., Greenberg D.A., Concepcion E.S., Osman R., Oashi T., et al. Arginine at position 74 of the HLA-DRb1 chain is associated with Graves' disease. Genes Immun 5 (2004) 203-208
21. Menconi F., Monti M.C., Greenberg D.A., Oashi T., Osman R., Davies T.F., et al. Molecular amino acid signatures in the MHC class II peptide-binding pocket predispose to autoimmune thyroiditis in humans and in mice. Proc Natl Acad Sci U S A 105 37 (2008) 14034-14039
22. Tomer Y., and Davies T.F. Searching for the autoimmune thyroid disease susceptibility genes: from gene mapping to gene function. Endocr Rev 24 (2003) 694-717
23. Farid N.R. Graves' disease. In: Farid N.R. (Ed). HLA in endocrine and metabolic disorders (1981), Academic Press, London 85-143
24. Barlow A.B.T., Wheatcroft N., Watson P., and Weetman A.P. Association of HLA-DQA1*0501 with Graves' disease in English caucasian men and women. Clin Endocrinol 44 (1996) 73-77
25. Yanagawa T., Mangklabruks A., Chang Y.B., Okamoto Y., Fisfalen M.-E., Curran P.G., et al. Human histocompatibility leukocyte antigen-DQA1*0501 allele associated with genetic susceptibility to Graves' disease in a caucasian population. J Clin Endocrinol Metab 76 (1993) 1569-1574
26. Zamani M., Spaepen M., Bex M., Bouillon R., and Cassiman J.J. Primary role of the HLA class II DRB1*0301 allele in Graves disease. Am J Med Genet 95 5 (2000) 432-437
27. Farid N.R., Sampson L., Moens H., and Barnard J.M. The association of goitrous autoimmune thyroiditis with HLA-DR5. Tissue Antigens 17 (1981) 265-268
28. Moens H., Farid N.R., Sampson L., Noel E.P., and Barnard J.M. Hashimoto's thyroiditis is associated with HLA-DRw3. N Engl J Med 299 (1978) 133-134
29. Tandon N., Zhang L., and Weetman A.P. HLA associations with Hashimoto's thyroiditis. Clin Endocrinol (Oxf) 34 (1991) 383-386
30. Ban Y., Davies T.F., Greenberg D.A., Concepcion E.S., and Tomer Y. The influence of human leucocyte antigen (HLA) genes on autoimmune thyroid disease (AITD): results of studies in HLA-DR3 positive AITD families. Clin Endocrinol (Oxf) 57 1 (2002) 81-88
31. Petrone A., Giorgi G., Mesturino C.A., Capizzi M., Cascino I., Nistico L., et al. Association of DRB1*04-DQB1*0301 haplotype and lack of association of two polymorphic sites at CTLA-4 gene with Hashimoto's thyroiditis in an Italian population. Thyroid 11 2 (2001) 171-175
32. Buus S., Sette A., and Grey H.M. The interaction between protein-derived immunogenic peptides and Ia. Immunol Rev 98 (1987) 115-141
33. Faas S., and Trucco M. The genes influencing the susceptibility to IDDM in humans. J Endocrinol Invest 17 (1994) 477-495
34. Pugliese A. Genetics of type 1 diabetes. Endocrinol Metab Clin North Am 33 1 (2004) 1-16, vii
35. Aitman T.J., and Todd J.A. Molecular genetics of diabetes mellitus. Baillière's Clin Endocrinol Metab 9 (1995) 631-656
36. Morel P.A., Dorman J.S., Todd J.A., McDevitt H.O., and Trucco M. Aspartic acid at position 57 of the HLA-DQ beta-chain protects against type I diabetes: a family study. Proc Natl Acad Sci U S A 85 (1988) 8111-8115
37. Lee K.H., Wucherpfennig K.W., and Wiley D.C. Structure of a human insulin peptide-HLA-DQ8 complex and susceptibility to type 1 diabetes. Nat Immunol 2 6 (2001) 501-507
38. Jones E.Y., Fugger L., Strominger J.L., and Siebold C. MHC class II proteins and disease: a structural perspective. Nat Rev Immunol 6 4 (2006) 271-282
39. Wucherpfennig K.W. Insights into autoimmunity gained from structural analysis of MHC- peptide complexes. Curr Opin Immunol 13 6 (2001) 650-656
40. Simmonds M.J., Howson J.M., Heward J.M., Cordell H.J., Foxall H., Carr-Smith J., et al. Regression mapping of association between the human leukocyte antigen region and graves disease. Am J Hum Genet 76 1 (2005) 157-163
41. Sawai Y., and DeGroot L.J. Binding of human thyrotropin receptor peptides to a Graves' disease-predisposing human leukocyte antigen class II molecule. J Clin Endocrinol Metab 85 3 (2000) 1176-1179
42. Todd J.A., Bell J.I., and McDevitt H.O. HLA-DQbeta gene contributes to susceptibility and resistance to insulin-dependent diabetes mellitus. Nature 329 (1987) 599-604
43. Teft W.A., Kirchhof M.G., and Madrenas J. A molecular perspective of CTLA-4 function. Annu Rev Immunol 24 (2006) 65-97
44. Finck B.K., Linsley P.S., and Wofsy D. Treatment of murine lupus with CTLA4Ig. Science 265 5176 (1994) 1225-1227
45. Knoerzer D.B., Karr R.W., Schwartz B.D., and Mengle-Gaw L.J. Collagen-induced arthritis in the BB rat. Prevention of disease by treatment with CTLA-4-Ig. J Clin Invest 96 2 (1995) 987-993
46. Nishikawa K., Linsley P.S., Collins A.B., Stamenkovic I., McCluskey R.T., and Andres G. Effect of CTLA-4 chimeric protein on rat autoimmune anti-glomerular basement membrane glomerulonephritis. Eur J Immunol 24 6 (1994) 1249-1254
47. Lenschow D.J., Herold K.C., Rhee L., Patel B., Koons A., Qin H.Y., et al. CD28/B7 regulation of Th1 and Th2 subsets in the development of autoimmune diabetes. Immunity 5 3 (1996) 285-293
48. Yanagawa T., Hidaka Y., Guimaraes V., Soliman M., and DeGroot L.J. CTLA-4 gene polymorphism associated with Graves' disease in a caucasian population. J Clin Endocrinol Metab 80 (1995) 41-45
49. Nistico L., Buzzetti R., Pritchard L.E., Van der Auwera B., Giovannini C., Bosi E., et al. The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. Hum Mol Genet 5 (1996) 1075-1080
50. Donner H., Rau H., Walfish P.G., Braun J., Siegmund T., Finke R., et al. CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus. J Clin Endocrinol Metab 82 (1997) 143-146
51. Kotsa K., Watson P.F., and Weetman A.P. A CTLA-4 gene polymorphism is associated with both Graves' disease and autoimmune hypothyroidism. Clin Endocrinol 46 (1997) 551-554
52. Kouki T., Gardine C.A., Yanagawa T., and DeGroot L.J. Relation of three polymorphisms of the CTLA-4 gene in patients with Graves' disease. J Endocrinol Invest 25 3 (2002) 208-213
53. Ueda H., Howson J.M., Esposito L., Heward J., Snook H., Chamberlain G., et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423 6939 (2003) 506-511
54. Ban Y., Davies T.F., Greenberg D.A., Kissin A., Marder B., Murphy B., et al. Analysis of the CTLA-4, CD28 and inducible co-stimulator (ICOS) genes in autoimmune thyroid disease. Genes Immun 4 (2003) 586-593
55. Nithiyananthan R., Heward J.M., Allahabadia A., Franklyn J.A., and Gough S.C. Polymorphism of the CTLA-4 gene is associated with autoimmune hypothyroidism in the United Kingdom. Thyroid 12 1 (2002) 3-6
56. illanueva R.B., Inzerillo A.M., Tomer Y., Barbesino G., Meltzer M., Concepcion E.S., et al. Limited genetic susceptibility to severe graves' ophthalmopathy: no role for ctla-4 and evidence for an environmental etiology. Thyroid 10 (2000) 791-798
57. Braun J., Donner H., Siegmund T., Walfish P.G., Usadel K.H., and Badenhoop K. CTLA-4 promoter variants in patients with Graves' disease and Hashimoto's thyroiditis. Tissue Antigens 51 (1998) 563-566
58. Yanagawa T., Taniyama M., Enomoto S., Gomi K., Maruyama H., Ban Y., et al. CTLA4 gene polymorphism confers susceptibility to Graves' disease in Japanese. Thyroid 7 (1997) 843-846
59. Heward J.M., Allahabadia A., Armitage M., Hattersley A., Dodson P.M., Macleod K., et al. The development of Graves' disease and the CTLA-4 gene on chromosome 2q33. J Clin Endocrinol Metab 84 7 (1999) 2398-2401
60. Akamizu T., Sale M.M., Rich S.S., Hiratani H., Noh J.Y., Kanamoto N., et al. Association of autoimmune thyroid disease with microsatellite markers for the thyrotropin receptor gene and CTLA-4 in Japanese patients. Thyroid 10 10 (2000) 851-858
61. Park Y.J., Chung H.K., Park D.J., Kim W.B., Kim S.W., Koh J.J., et al. Polymorphism in the promoter and exon 1 of the cytotoxic T lymphocyte antigen-4 gene associated with autoimmune thyroid disease in Koreans. Thyroid 10 6 (2000) 453-459
62. Donner H., Braun J., Seidl C., Rau H., Finke R., Ventz M., et al. Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease. J Clin Endocrinol Metab 82 (1997) 4130-4132
63. Sale M.M., Akamizu T., Howard T.D., Yokota T., Nakao K., Mori T., et al. Association of autoimmune thyroid disease with a microsatellite marker for the thyrotropin receptor gene and CTLA-4 in a Japanese population. Proc Assoc Am Physicians 109 (1997) 453-461
64. Tomer Y., Greenberg D.A., Barbesino G., Concepcion E.S., and Davies T.F. CTLA-4 and not CD28 is a susceptibility gene for thyroid autoantibody production. J Clin Endocrinol Metab 86 (2001) 1687-1693
65. Zaletel K., Krhin B., Gaberscek S., Pirnat E., and Hojker S. The influence of the exon 1 polymorphism of the cytotoxic T lymphocyte antigen 4 gene on thyroid antibody production in patients with newly diagnosed graves' disease. Thyroid 12 5 (2002) 373-376
66. Zaletel K., Krhin B., Gaberscek S., and Hojker S. Thyroid autoantibody production is influenced by exon 1 and promoter CTLA-4 polymorphisms in patients with Hashimoto's thyroiditis. Int J Immunogenet 33 2 (2006) 87-91
67. Vieland V.J., Huang Y., Bartlett C., Davies T.F., and Tomer Y. A multilocus model of the genetic architecture of autoimmune thyroid disorder, with clinical implications. Am J Hum Genet 82 6 (2008) 1349-1356
68. Anjos S., Nguyen A., Ounissi-Benkalha H., Tessier M.C., and Polychronakos C. A common autoimmunity predisposing signal peptide variant of the cytotoxic T-lymphocyte antigen 4 results in inefficient glycosylation of the susceptibility allele. J Biol Chem 277 48 (2002) 46478-46486
69. Kouki T., Sawai Y., Gardine C.A., Fisfalen M.E., Alegre M.L., and DeGroot L.J. CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and Contributes to the pathogenesis of Graves' disease. J Immunol 165 11 (2000) 6606-6611
70. u Y., Graves P., Tomer Y., and Davies T. CTLA-4 and autoimmune thyroid disease: lack of influence of the A49 G signal peptide polymorphism on functional recombinant human CTLA-4. Cell Immunol 215 2 (2002) 133-140
71. Mayans S., Lackovic K., Nyholm C., Lindgren P., Ruikka K., Eliasson M., et al. CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden. BMC Med Genet 8 (2007) 3
72. Takara M., Kouki T., and DeGroot L.J. CTLA-4 AT-repeat polymorphism reduces the inhibitory function of CTLA-4 in Graves' disease. Thyroid 13 12 (2003) 1083-1089
73. Wang X.B., Kakoulidou M., Giscombe R., Qiu Q., Huang D., Pirskanen R., et al. Abnormal expression of CTLA-4 by T cells from patients with myasthenia gravis: effect of an AT-rich gene sequence. J Neuroimmunol 130 1-2 (2002) 224-232
74. Shaw G., and Kamen R. A conserved AU sequence from the 3′ untranslated region of GM-CSF mRNA mediates selective mRNA degradation. Cell 46 5 (1986) 659-667
75. Banchereau J., Bazan F., Blanchard D., Briere F., Galizzi J.P., van Kooten C., et al. The CD40 antigen and its ligand. Annu Rev Immunol 12 (1994) 881-922
76. Armitage R.J., Macduff B.M., Spriggs M.K., and Fanslow W.C. Human B cell proliferation and Ig secretion induced by recombinant CD40 ligand are modulated by soluble cytokines. J Immunol 150 9 (1993) 3671-3680
77. Arpin C., Dechanet J., van Kooten C., Merville P., Grouard G., Briere F., et al. Generation of memory B cells and plasma cells in vitro. Science 268 5211 (1995) 720-722
78. Tomer Y., Barbesino G., Greenberg D.A., Concepcion E.S., and Davies T.F. A new Graves disease-susceptibility locus maps to chromosome 20q11.2. Am J Hum Genet 63 (1998) 1749-1756
79. Tomer Y., Concepcion E., and Greenberg D.A. A C/T single nucleotide polymorphism in the region of the CD40 gene is associated with Graves' disease. Thyroid 12 (2002) 1129-1135
80. Pearce S.H., Vaidya B., Imrie H., Perros P., Kelly W.F., Toft A.D., et al. Further evidence for a susceptibility locus on chromosome 20q13.11 in families with dominant transmission of Graves disease [letter]. Am J Hum Genet 65 5 (1999) 1462-1465
81. Kim T.Y., Park Y.J., Hwang J.K., Song J.Y., Park K.S., Cho B.Y., et al. A C/T polymorphism in the 5′-untranslated region of the CD40 gene is associated with Graves' disease in Koreans. Thyroid 13 (2003) 919-926
82. Ban Y., Tozaki T., Taniyama M., Tomita M., and Ban Y. Association of a C/T single-nucleotide polymorphism in the 5′ untranslated region of the CD40 gene with Graves' disease in Japanese. Thyroid 16 5 (2006) 443-446
83. Kurylowicz A., Kula D., Ploski R., Skorka A., Jurecka-Lubieniecka B., Zebracka J., et al. Association of CD40 gene polymorphism (C-1T) with susceptibility and phenotype of Graves' disease. Thyroid 15 10 (2005) 1119-1124
84. Mukai T., Hiromatsu Y., Fukutani T., Ichimura M., Kaku H., Miyake I., et al. A C/T polymorphism in the 5′ untranslated region of the CD40 gene is associated with later onset of Graves' disease in Japanese. Endocr J 52 4 (2005) 471-477
85. Houston F.A., Wilson V., Jennings C.E., Owen C.J., Donaldson P., Perros P., et al. Role of the CD40 locus in Graves' disease. Thyroid 14 7 (2004) 506-509
86. Jacobson E.M., Huber A.K., Akeno N., Sivak M., Li C.W., Concepcion E., et al. A CD40 Kozak sequence polymorphism and susceptibility to antibody-mediated autoimmune conditions: the role of CD40 tissue-specific expression. Genes Immun 8 (2007) 205-214
87. Jacobson E.M., Concepcion E., Oashi T., and Tomer Y. A Graves' disease-associated Kozak sequence single-nucleotide polymorphism enhances the efficiency of CD40 gene translation: a case for translational pathophysiology. Endocrinology 146 6 (2005) 2684-2691
88. Park J.H., Chang H.S., Park C.S., Jang A.S., Park B.L., Rhim T.Y., et al. Association analysis of CD40 polymorphisms with asthma and the level of serum total IgE. Am J Respir Crit Care Med 175 8 (2007) 775-782
89. Metcalfe R.A., McIntosh R.S., Marelli-Berg F., Lombardi G., Lechler R., and Weetman A.P. Detection of CD40 on human thyroid follicular cells: analysis of expression and function. J Clin Endocrinol Metab 83 4 (1998) 1268-1274
90. Smith T.J., Sciaky D., Phipps R.P., and Jennings T.A. CD40 expression in human thyroid tissue: evidence for involvement of multiple cell types in autoimmune and neoplastic diseases. Thyroid 9 8 (1999) 749-755
91. Cooper J.D., Smyth D.J., Bailey R., Payne F., Downes K., Godfrey L.M., et al. The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes. BMC Med Genet 8 (2007) 71
92. Cloutier J.F., and Veillette A. Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphatase. J Exp Med 189 1 (1999) 111-121
93. elaga M.R., Wilson V., Jennings C.E., Owen C.J., Herington S., Donaldson P.T., et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 89 11 (2004) 5862-5865
94. Criswell L.A., Pfeiffer K.A., Lum R.F., Gonzales B., Novitzke J., Kern M., et al. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620 W allele associates with multiple autoimmune phenotypes. Am J Hum Genet 76 4 (2005) 561-571
95. Begovich A.B., Carlton V.E., Honigberg L.A., Schrodi S.J., Chokkalingam A.P., Alexander H.C., et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 75 2 (2004) 330-337
96. Kyogoku C., Langefeld C.D., Ortmann W.A., Lee A., Selby S., Carlton V.E., et al. Genetic association of the R620 W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 75 3 (2004) 504-507
97. Bottini N., Musumeci L., Alonso A., Rahmouni S., Nika K., Rostamkhani M., et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 36 4 (2004) 337-338
98. Smyth D., Cooper J.D., Collins J.E., Heward J.M., Franklyn J.A., Howson J.M., et al. Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes 53 11 (2004) 3020-3023
99. Ban Y., Tozaki T., Taniyama M., Tomita M., and Ban Y. The codon 620 single nucleotide polymorphism of the protein tyrosine phosphatase-22 gene does not contribute to autoimmune thyroid disease susceptibility in the Japanese. Thyroid 15 10 (2005) 1115-1118
100. Vang T., Congia M., Macis M.D., Musumeci L., Orru V., Zavattari P., et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 37 12 (2005) 1317-1319
101. Charreire J. Immune mechanisms in autoimmune thyroiditis. Adv Immunol 46 (1989) 263-334
102. Stafford E.A., and Rose N.R. Newer insights into the pathogenesis of experimental autoimmune thyroiditis. Int Rev Immunol 19 6 (2000) 501-533
103. Tomer Y., Greenberg D.A., Concepcion E., Ban Y., and Davies T.F. Thyroglobulin is a thyroid specific gene for the familial autoimmune thyroid diseases. J Clin Endocrinol Metab 87 1 (2002) 404-407
104. Collins J.E., Heward J.M., Carr-Smith J., Daykin J., Franklyn J.A., and Gough S.C.L. Association of a rare thyroglobulin gene microsatellite variant with autoimmune thyroid disease. J Clin Endocrinol Metab 88 (2003) 5039-5042
105. Tomer Y., and Greenberg D. The thyroglobulin gene as the first thyroid-specific susceptibility gene for autoimmune thyroid disease. Trends Mol Med 10 7 (2004) 306-308
106. Ban Y., Tozaki T., Taniyama M., Tomita M., and Ban Y. Association of a thyroglobulin gene polymorphism with Hashimoto's thyroiditis in the Japanese population. Clin Endocrinol (Oxf) 61 2 (2004) 263-268
107. Hsiao J.Y., Hsieh M.C., Tien K.J., Hsu S.C., Shin S.J., and Lin S.R. Association between a C/T polymorphism in exon 33 of the thyroglobulin gene is associated with relapse of Graves' hyperthyroidism after antithyroid withdrawal in Taiwanese. J Clin Endocrinol Metab 92 8 (2007) 3197-3201
108. Hsiao J.Y., Hsieh M.C., Tien K.J., Hsu S.C., Lin S.R., and Ke D.S. Exon 33 T/T genotype of the thyroglobulin gene is a susceptibility gene for Graves' disease in Taiwanese and exon 12 C/C genotype protects against it. Clin Exp Med 8 1 (2008) 17-21
109. Sakai K., Shirasawa S., Ishikawa N., Ito K., Tamai H., Kuma K., et al. Identification of susceptibility loci for autoimmune thyroid disease to 5q31-q33 and Hashimoto's thyroiditis to 8q23-q24 by multipoint affected sib-pair linkage analysis in Japanese. Hum Mol Genet 10 13 (2001) 1379-1386
110. Ban Y., Greenberg D.A., Concepcion E., Skrabanek L., Villanueva R., and Tomer Y. Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease. Proc Natl Acad Sci U S A 100 (2003) 15119-15124
111. Hodge S.E., Ban Y., Strug L.J., Greenberg D.A., Davies T.F., Concepcion E.S., et al. Possible interaction between HLA-DRbeta1 and thyroglobulin variants in Graves' disease. Thyroid 16 4 (2006) 351-355
112. Tonacchera M., and Pinchera A. Thyrotropin receptor polymorphisms and thyroid diseases. J Clin Endocrinol Metab 85 8 (2000) 2637-2639
113. Cuddihy R.M., Dutton C.M., and Bahn R.S. A polymorphism in the extracellular domain of the thyrotropin receptor is highly associated with autoimmune thyroid disease in females. Thyroid 5 (1995) 89-95
114. Chistyakov D.A., Savost'anov K.V., Turakulov R.I., Petunina N.A., Trukhina L.V., Kudinova A.V., et al. Complex association analysis of graves disease using a set of polymorphic markers. Mol Genet Metab 70 3 (2000) 214-218
115. Allahabadia A., Heward J.M., Mijovic C., Carr-Smith J., Daykin J., Cockram C., et al. Lack of association between polymorphism of the thyrotropin receptor gene and Graves' disease in United Kingdom and Hong Kong Chinese patients: case control and family-based studies. Thyroid 8 (1998) 777-780
116. Kotsa K.D., Watson P.F., and Weetman A.P. No association between a thyrotropin receptor gene polymorphism and Graves' disease in the female population. Thyroid 7 (1997) 31-33
117. Simanainen J., Kinch A., Westermark K., Winsa B., Bengtsson M., Schuppert F., et al. Analysis of mutations in exon 1 of the human thyrotropin receptor gene: high frequency of the D36H and P52 T polymorphic variants. Thyroid 9 (1999) 7-11
118. Kaczur V., Takacs M., Szalai C., Falus A., Nagy Z., Berencsi G., et al. Analysis of the genetic variability of the 1st (CCC/ACC, P52 T) and the 10th exons (bp 1012-1704) of the TSH receptor gene in Graves' disease. Eur J Immunogenet 27 1 (2000) 17-23
119. Hiratani H., Bowden D.W., Ikegami S., Shirasawa S., Shimizu A., Iwatani Y., et al. Multiple SNPs in intron 7 of thyrotropin receptor are associated with Graves' disease. J Clin Endocrinol Metab 90 5 (2005) 2898-2903
120. Ho S.C., Goh S.S., and Khoo D.H. Association of Graves' disease with intragenic polymorphism of the thyrotropin receptor gene in a cohort of Singapore patients of multi-ethnic origins. Thyroid 13 6 (2003) 523-528
121. Dechairo B.M., Zabaneh D., Collins J., Brand O., Dawson G.J., Green A.P., et al. Association of the TSHR gene with Graves' disease: the first disease specific locus. Eur J Hum Genet 13 11 (2005) 1223-1230
122. Yin X., Latif R., Bahn R., Tomer Y., and Davies T.F. Influence of the TSH receptor gene on susceptibility to Graves' disease and Graves' ophthalmopathy. Thyroid 18 11 (2008) 1201-1206
123. Graves P.N., Tomer Y., and Davies T.F. Cloning and sequencing of a 1.3 kb variant of human thyrotropin receptor mRNA lacking the transmembrane domain. Biochem Biophys Res Commun 187 (1992) 1135-1143
124. Kakinuma A., and Nagayama Y. Multiple messenger ribonucleic acid transcripts and revised gene organization of the human TSH receptor. Endocr J 49 2 (2002) 175-180
125. Brix T.H., Kyvik K.O., Christensen K., and Hegedus L. Evidence for a major role of heredity in Graves' disease: a population- based study of two Danish twin cohorts. J Clin Endocrinol Metab 86 2 (2001) 930-934
126. Rose N.R., Bonita R., and Burek C.L. Iodine: an environmental trigger of thyroiditis. Autoimmun Rev 1 1-2 (2002) 97-103
127. Li H.S., Jiang H.Y., and Carayanniotis G. Modifying effects of iodine on the immunogenicity of thyroglobulin peptides. J Autoimmun 28 4 (2007) 171-176
128. Oppenheim Y., Ban Y., and Tomer Y. Interferon induced Autoimmune Thyroid Disease (AITD): a model for human autoimmunity. Autoimmun Rev 3 5 (2004) 388-393
129. Tomer Y., and Davies T.F. Infections and autoimmune endocrine disease. Baillière's Clin Endocrinol Metab 9 (1995) 47-70
130. Tomer Y., and Davies T.F. Infection, thyroid disease and autoimmunity. Endocr Rev 14 (1993) 107-120
131. Cox S.P., Phillips D.I., and Osmond C. Does infection initiate Graves disease? A population based 10 year study. Autoimmunity 4 1-2 (1989) 43-49
132. Phillips D.I., Barker D.J., Rees Smith B., Didcote S., and Morgan D. The geographical distribution of thyrotoxicosis in England according to the presence or absence of TSH-receptor antibodies. Clin Endocrinol (Oxf) 23 (1985) 283-287
133. altonen V.V., Ruutu P., Varis K., Ranki M., Malkamaki M., and Makela P.H. Serological evidence for the role of bacterial infections in the pathogenesis of thyroid diseases. Acta Med Scand 219 (1986) 105-111
134. Wenzel B.E., Heesemann J., Wenzel K.W., and Scriba P.C. Antibodies to plasmid-encoded proteins of enteropathogenic Yersinia in patients with autoimmune thyroid disease [letter]. Lancet 1 8575-8576 (1988) 56
135. Corapcioglu D., Tonyukuk V., Kiyan M., Yilmaz A.E., Emral R., Kamel N., et al. Relationship between thyroid autoimmunity and Yersinia enterocolitica antibodies. Thyroid 12 7 (2002) 613-617
136. Brix T.H., Hansen P.S., Hegedus L., and Wenzel B.E. Too early to dismiss Yersinia enterocolitica infection in the aetiology of Graves' disease: evidence from a twin case-control study. Clin Endocrinol (Oxf) 69 3 (2008) 491-496
137. Chatzipanagiotou S., Legakis J.N., Boufidou F., Petroyianni V., and Nicolaou C. Prevalence of Yersinia plasmid-encoded outer protein (Yop) class-specific antibodies in patients with Hashimoto's thyroiditis. Clin Microbiol Infect 7 3 (2001) 138-143
138. Kraemer M.H., Donadi E.A., Tambascia M.A., Magna L.A., and Prigenzi L.S. Relationship between HLA antigens and infectious agents in contributing towards the development of Graves' disease. Immunol Invest 27 1-2 (1998) 17-29
139. Nagasaka A., Nakai A., Oda N., Kotake M., Iwase K., and Yoshida S. Reverse transcriptase is elevated in the thyroid tissue from Graves' disease patients. Clin Endocrinol (Oxf) 53 2 (2000) 155-159
140. Jaspan J.B., Luo H., Ahmed B., Tenenbaum S., Voss T., Sander D.M., et al. Evidence for a retroviral trigger in Graves' disease. Autoimmunity 20 2 (1995) 135-142
141. Jaspan J.B., Sullivan K., Garry R.F., Lopez M., Wolfe M., Clejan S., et al. The interaction of a type A retroviral particle and class II human leukocyte antigen susceptibility genes in the pathogenesis of Graves' disease. J Clin Endocrinol Metab 81 6 (1996) 2271-2279
142. Yokoi K., Kawai H., Akaike M., Mine H., and Saito S. Presence of human T-lymphotropic virus type II-related genes in DNA of peripheral leukocytes from patients with autoimmune thyroid diseases. J Med Virol 45 4 (1995) 392-398
143. Tomoyose T., Komiya I., Takara M., Yabiku K., Kinjo Y., Shimajiri Y., et al. Cytotoxic T-lymphocyte antigen-4 gene polymorphisms and human T-cell lymphotrophic virus-1 infection: their associations with Hashimoto's thyroiditis in Japanese patients. Thyroid 12 8 (2002) 673-677
144. de Luis D.A., Varela C., de La C.H., Canton R., de Argila C.M., San Roman A.L., et al. Helicobacter pylori infection is markedly increased in patients with autoimmune atrophic thyroiditis. J Clin Gastroenterol 26 4 (1998) 259-263
145. Figura N., Di Cairano G., Lore F., Guarino E., Gragnoli A., Cataldo D., et al. The infection by Helicobacter pylori strains expressing CagA is highly prevalent in women with autoimmune thyroid disorders. J Physiol Pharmacol 50 5 (1999) 817-826
146. Tomer Y., and Villanueva R. Hepatitis C and thyroid autoimmunity: is there a link?. Am J Med 117 1 (2004) 60-61
147. Boadas J., Rodriguez-Espinosa J., Enriquez J., Miralles F., Martinez-Cerezo F.J., Gonzalez P., et al. Prevalence of thyroid autoantibodies is not increased in blood donors with hepatitis C virus infection. J Hepatol 22 6 (1995) 611-615
148. Ganne-Carrie N., Medini A., Coderc E., Seror O., Christidis C., Grimbert S., et al. Latent autoimmune thyroiditis in untreated patients with HCV chronic hepatitis: a case-control study. J Autoimmun 14 2 (2000) 189-193
149. Fernandez-Soto L., Gonzalez A., Escobar-Jimenez F., Vazquez R., Ocete E., Olea N., et al. Increased risk of autoimmune thyroid disease in hepatitis C vs hepatitis B before, during, and after discontinuing interferon therapy. Arch Intern Med 158 13 (1998) 1445-1448
150. Antonelli A., Ferri C., Pampana A., Fallahi P., Nesti C., Pasquini M., et al. Thyroid disorders in chronic hepatitis C. Am J Med 117 1 (2004) 10-13
151. Tran A., Quaranta J.F., Benzaken S., Thiers V., Chau H.T., Hastier P., et al. High prevalence of thyroid autoantibodies in a prospective series of patients with chronic hepatitis C before interferon therapy. Hepatology 18 2 (1993) 253-257
152. Watanabe U., Hashimoto E., Hisamitsu T., Obata H., and Hayashi N. The risk factor for development of thyroid disease during interferon-alpha therapy for chronic hepatitis C. Am J Gastroenterol 89 3 (1994) 399-403
153. Carella C., Amato G., Biondi B., Rotondi M., Morisco F., Tuccillo C., et al. Longitudinal study of antibodies against thyroid in patients undergoing interferon-alpha therapy for HCV chronic hepatitis. Horm Res 44 3 (1995) 110-114
154. Roti E., Minelli R., Giuberti T., Marchelli S., Schianchi C., Gardini E., et al. Multiple changes in thyroid function in patients with chronic active HCV hepatitis treated with recombinant interferon-alpha. Am J Med 101 5 (1996) 482-487
155. Marazuela M., Garcia-Buey L., Gonzalez-Fernandez B., Garcia-Monzon C., Arranz A., Borque M.J., et al. Thyroid autoimmune disorders in patients with chronic hepatitis C before and during interferon-alpha therapy. Clin Endocrinol (Oxf) 44 6 (1996) 635-642
156. Carella C., Mazziotti G., Morisco F., Rotondi M., Cioffi M., Tuccillo C., et al. The addition of ribavirin to interferon-alpha therapy in patients with hepatitis C virus-related chronic hepatitis does not modify the thyroid autoantibody pattern but increases the risk of developing hypothyroidism. Eur J Endocrinol 146 6 (2002) 743-749
157. Antonelli A., Ferri C., Fallahi P., Ferrari S.M., Ghinoi A., Rotondi M., et al. Thyroid disorders in chronic hepatitis C virus infection. Thyroid 16 6 (2006) 563-572
158. Benoist C., and MathisAutoimmunity D. The pathogen connection. Nature 394 6690 (1998) 227-228
159. Oldstone M.B.A. Molecular mimicry and autoimmune diseases. Cell 50 (1987) 819-820
160. Fournie G.J., Mas M., Cautain B., Savignac M., Subra J.F., Pelletier L., et al. Induction of autoimmunity through bystander effects. Lessons from immunological disorders induced by heavy metals. J Autoimmun 16 3 (2001) 319-326
161. Shenkman L., and Bottone E.J. Antibodies to Yersinia enterocolitica in thyroid disease. Ann Intern Med 85 (1976) 735-739
162. Arata N., Ando T., Unger P., and Davies T.F. By-stander activation in autoimmune thyroiditis: studies on experimental autoimmune thyroiditis in the GFP+ fluorescent mouse. Clin Immunol 121 1 (2006) 108-117
163. Akeno N., Blackard J.T., and Tomer Y. HCV E2 protein binds directly to thyroid cells and induces IL-8 production: a new mechanism for HCV induced thyroid autoimmunity. J Autoimmun 31 4 (2008) 339-344
164. Laskus T., Radkowski M., Wang L.F., Vargas H., and Rakela J. Search for hepatitis C virus extrahepatic replication sites in patients with acquired immunodeficiency syndrome: specific detection of negative-strand viral RNA in various tissues. Hepatology 28 5 (1998) 1398-1401
165. Bartolome J., Rodriguez-Inigo E., Quadros P., Vidal S., Pascual-Miguelanez I., Rodriguez-Montes J.A., et al. Detection of hepatitis C virus in thyroid tissue from patients with chronic HCV infection. J Med Virol 80 9 (2008) 1588-1594
166. Zois C., Stavrou I., Svarna E., Seferiadis K., and Tsatsoulis A. Natural course of autoimmune thyroiditis after elimination of iodine deficiency in northwestern Greece. Thyroid 16 3 (2006) 289-293
167. Laurberg P., Bulow Pedersen I., Pedersen K.M., and Vestergaard H. Low incidence rate of overt hypothyroidism compared with hyperthyroidism in an area with moderately low iodine intake. Thyroid 9 1 (1999) 33-38
168. Laurberg P., Pedersen K.M., Vestergaard H., and Sigurdsson G. High incidence of multinodular toxic goitre in the elderly population in a low iodine intake area vs. high incidence of Graves' disease in the young in a high iodine intake area: comparative surveys of thyrotoxicosis epidemiology in East-Jutland Denmark and Iceland. J Intern Med 229 5 (1991) 415-420
169. Papanastasiou L., Alevizaki M., Piperingos G., Mantzos E., Tseleni-Balafouta S., and Koutras D.A. The effect of iodine administration on the development of thyroid autoimmunity in patients with nontoxic goiter. Thyroid 10 6 (2000) 493-497
170. Pedersen I.B., Laurberg P., Knudsen N., Jorgensen T., Perrild H., Ovesen L., et al. An increased incidence of overt hypothyroidism after iodine fortification of salt in Denmark: a prospective population study. J Clin Endocrinol Metab 92 8 (2007) 3122-3127
171. Bulow P.I., Laurberg P., Knudsen N., Jorgensen T., Perrild H., Ovesen L., et al. Increase in incidence of hyperthyroidism predominantly occurs in young people after iodine fortification of salt in Denmark. J Clin Endocrinol Metab 91 10 (2006) 3830-3834
172. Teng W., Shan Z., Teng X., Guan H., Li Y., Teng D., et al. Effect of iodine intake on thyroid diseases in China. N Engl J Med 354 26 (2006) 2783-2793
173. Trip M.D., Wiersinga W., and Plomp T.A. Incidence, predictability, and pathogenesis of amiodarone-induced thyrotoxicosis and hypothyroidism. Am J Med 91 5 (1991) 507-511
174. Coles A.J., Wing M., Smith S., Coraddu F., Greer S., Taylor C., et al. Pulsed monoclonal antibody treatment and autoimmune thyroid disease in multiple sclerosis. Lancet 354 9191 (1999) 1691-1695
175. Knysz B., Bolanowski M., Klimczak M., Gladysz A., and Zwolinska K. Graves' disease as an immune reconstitution syndrome in an HIV-1-positive patient commencing effective antiretroviral therapy: case report and literature review. Viral Immunol 19 1 (2006) 102-107
176. Sklar C., Whitton J., Mertens A., Stovall M., Green D., Marina N., et al. Abnormalities of the thyroid in survivors of Hodgkin's disease: data from the Childhood Cancer Survivor Study. J Clin Endocrinol Metab 85 9 (2000) 3227-3232
177. Vestergaard P. Smoking and thyroid disorders - a meta-analysis. Eur J Endocrinol 146 2 (2002) 153-161
178. Yoshiuchi K., Kumano H., Nomura S., Yoshimura H., Ito K., Kanaji Y., et al. Stressful life events and smoking were associated with Graves' disease in women, but not in men. Psychosom Med 60 2 (1998) 182-185
179. Brix T.H., Hansen P.S., Kyvik K.O., and Hegedus L. Cigarette smoking and risk of clinically overt thyroid disease: a population-based twin case-control study. Arch Intern Med 160 5 (2000) 661-666
180. Vestergaard P., Rejnmark L., Weeke J., Hoeck H.C., Nielsen H.K., Rungby J., et al. Smoking as a risk factor for Graves' disease, toxic nodular goiter, and autoimmune hypothyroidism. Thyroid 12 1 (2002) 69-75
181. Prummel M.F., and Wiersinga W.M. Smoking and risk of Graves' disease [see comments]. JAMA 269 4 (1993) 479-482
182. Belin R.M., Astor B.C., Powe N.R., and Ladenson P.W. Smoke exposure is associated with a lower prevalence of serum thyroid autoantibodies and thyrotropin concentration elevation and a higher prevalence of mild thyrotropin concentration suppression in the third National Health and Nutrition Examination Survey (NHANES III). J Clin Endocrinol Metab 89 12 (2004) 6077-6086
183. Matos-Santos A., Nobre E.L., Costa J.G.E., Nogueira P.J., Macedo A., Galvao-Teles A., et al. Relationship between the number and impact of stressful life events and the onset of Graves' disease and toxic nodular goitre. Clin Endocrinol 55 (2003) 15-19
184. Winsa B., Adami H.-O., Bergstrom R., Gamstedt A., Dahlberg P.A., Adamson U., et al. Stressful life events and Graves' disease. Lancet 338 (1991) 1475-1479
185. Boscarino J.A. Posttraumatic stress disorder and physical illness: results from clinical and epidemiologic studies. Ann N Y Acad Sci 1032 (2004) 141-153