go back to reference Nyström HF, Jansson S, Berg G. Incidence rate and clinical features of hyperthyroidism in a long-term iodine sufficient area of Sweden (Gothenburg) 2003–2005. Clinical Endocrinology. 2013;78(5):768–76.PubMedCrossRef Nyström HF, Jansson S, Berg G. Incidence rate and clinical features of hyperthyroidism in a long-term iodine sufficient area of Sweden (Gothenburg) 2003–2005. Clinical Endocrinology. 2013;78(5):768–76.PubMedCrossRef

go back to reference Holm IA, Manson JE, Michels KB, Alexander EK, Willett WC, Utiger RD. Smoking and other lifestyle factors and the risk of Graves’ hyperthyroidism. Arch Intern Med. 2005;165(14):1606–11. https://doi.org/10.1001/archinte.165.14.1606. PMID: 16043678.CrossRefPubMed Holm IA, Manson JE, Michels KB, Alexander EK, Willett WC, Utiger RD. Smoking and other lifestyle factors and the risk of Graves’ hyperthyroidism. Arch Intern Med. 2005;165(14):1606–11. https://​doi.​org/​10.​1001/​archinte.​165.​14.​1606. PMID: 16043678.CrossRefPubMed

go back to reference Conrad N, Misra S, Verbakel JY, Verbeke G, Molenberghs G, Taylor PN, Mason J, Sattar N, McMurray JJV, McInnes IB, Khunti K, Cambridge G. Incidence, prevalence, and co-occurrence of autoimmune disorders over time and by age, sex, and socioeconomic status: a population-based cohort study of 22 million individuals in the UK. Lancet. 2023;S0140–6736(23):00457–9. https://doi.org/10.1016/S0140-6736(23)00457-9. PMID: 37156255.CrossRef Conrad N, Misra S, Verbakel JY, Verbeke G, Molenberghs G, Taylor PN, Mason J, Sattar N, McMurray JJV, McInnes IB, Khunti K, Cambridge G. Incidence, prevalence, and co-occurrence of autoimmune disorders over time and by age, sex, and socioeconomic status: a population-based cohort study of 22 million individuals in the UK. Lancet. 2023;S0140–6736(23):00457–9. https://​doi.​org/​10.​1016/​S0140-6736(23)00457-9. PMID: 37156255.CrossRef

go back to reference McLeod DS, Caturegli P, Cooper DS, Matos PG, Hutfless S. Variation in rates of autoimmune thyroid disease by race/ethnicity in US military personnel. JAMA. 2014;311(15):1563–5. https://doi.org/10.1001/jama.2013.285606. PMID: 24737370.CrossRefPubMed McLeod DS, Caturegli P, Cooper DS, Matos PG, Hutfless S. Variation in rates of autoimmune thyroid disease by race/ethnicity in US military personnel. JAMA. 2014;311(15):1563–5. https://​doi.​org/​10.​1001/​jama.​2013.​285606. PMID: 24737370.CrossRefPubMed

go back to reference Brix TH, Kyvik KO, Christensen K, Hegedüs L. Evidence for a major role of heredity in Graves’ disease: A population-based study of two Danish twin cohorts. J Clin Endocrinol Metabol. 2001;86(2):930–4. Brix TH, Kyvik KO, Christensen K, Hegedüs L. Evidence for a major role of heredity in Graves’ disease: A population-based study of two Danish twin cohorts. J Clin Endocrinol Metabol. 2001;86(2):930–4.

go back to reference Skov J, Eriksson D, Kuja-Halkola R, Höijer J, Gudbjörnsdottir S, Svensson AM, Magnusson PKE, Ludvigsson JF, Kämpe O, Bensing S. Co-aggregation and heritability of organ-specific autoimmunity: a population-based twin study. Eur J Endocrinol. 2020;182(5):473–80. https://doi.org/10.1530/EJE-20-0049. 32229696.CrossRefPubMedPubMedCentral Skov J, Eriksson D, Kuja-Halkola R, Höijer J, Gudbjörnsdottir S, Svensson AM, Magnusson PKE, Ludvigsson JF, Kämpe O, Bensing S. Co-aggregation and heritability of organ-specific autoimmunity: a population-based twin study. Eur J Endocrinol. 2020;182(5):473–80. https://​doi.​org/​10.​1530/​EJE-20-0049. 32229696.CrossRefPubMedPubMedCentral

go back to reference Stenszky V, Kozma L, Balázs C, Rochlitz S, Bear JC, Farid NR. The genetics of Graves’ disease: HLA and disease susceptibility. J Clin Endocrinol Metab. 1985;61(4):735–40. https://doi.org/10.1210/jcem-61-4-735. PMID: 3861611.CrossRefPubMed Stenszky V, Kozma L, Balázs C, Rochlitz S, Bear JC, Farid NR. The genetics of Graves’ disease: HLA and disease susceptibility. J Clin Endocrinol Metab. 1985;61(4):735–40. https://​doi.​org/​10.​1210/​jcem-61-4-735. PMID: 3861611.CrossRefPubMed

go back to reference Vaidya B, Kendall-Taylor P, Pearce SH. The genetics of autoimmune thyroid disease. J Clin Endocrinol Metab. 2002;87(12):5385–97. https://doi.org/10.1210/jc.2002-020492. PMID: 12466323.CrossRefPubMed Vaidya B, Kendall-Taylor P, Pearce SH. The genetics of autoimmune thyroid disease. J Clin Endocrinol Metab. 2002;87(12):5385–97. https://​doi.​org/​10.​1210/​jc.​2002-020492. PMID: 12466323.CrossRefPubMed

go back to reference Vyse TJ, Todd JA. Genetic analysis of autoimmune disease. Cell. 1996;85(3):311–8. https://doi.org/10.1016/s0092-8674(00)81110-1. PMID: 8616887.CrossRefPubMed Vyse TJ, Todd JA. Genetic analysis of autoimmune disease. Cell. 1996;85(3):311–8. https://​doi.​org/​10.​1016/​s0092-8674(00)81110-1. PMID: 8616887.CrossRefPubMed

go back to reference Strieder TGA, Tijssen JGP, Wenzel BE, Endert E, Wiersinga WM. Prediction of progression to overt hypothyroidism or hyperthyroidism in female relatives of patients with autoimmune thyroid disease using the thyroid events Amsterdam (THEA) score. Arch Internal Med. 2008;168(15):1657–63.CrossRef Strieder TGA, Tijssen JGP, Wenzel BE, Endert E, Wiersinga WM. Prediction of progression to overt hypothyroidism or hyperthyroidism in female relatives of patients with autoimmune thyroid disease using the thyroid events Amsterdam (THEA) score. Arch Internal Med. 2008;168(15):1657–63.CrossRef

go back to reference Song H, Fang F, Tomasson G, Arnberg FK, Mataix-Cols D, Fernández de la Cruz L, Almqvist C, Fall K, Valdimarsdóttir UA. Association of Stress-Related Disorders With Subsequent Autoimmune Disease. JAMA 2018;319(23):2388-2400. Song H, Fang F, Tomasson G, Arnberg FK, Mataix-Cols D, Fernández de la Cruz L, Almqvist C, Fall K, Valdimarsdóttir UA. Association of Stress-Related Disorders With Subsequent Autoimmune Disease. JAMA 2018;319(23):2388-2400.

go back to reference Vestergaard P. Smoking and thyroid disorders–a meta-analysis. Eur J Endocrinol. 2002;146(2):153–61. https://doi.org/10.1530/eje.0.1460153. PMID: 11834423.CrossRefPubMed Vestergaard P. Smoking and thyroid disorders–a meta-analysis. Eur J Endocrinol. 2002;146(2):153–61. https://​doi.​org/​10.​1530/​eje.​0.​1460153. PMID: 11834423.CrossRefPubMed

go back to reference Bülow Pedersen I, Knudsen N, Jørgensen T, Perrild H, Ovesen L, Laurberg P. Large differences in incidences of overt hyper- and hypothyroidism associated with a small difference in iodine intake: a prospective comparative register-based population survey. J Clin Endocrinol Metab. 2002;87(10):4462–9. https://doi.org/10.1210/jc.2002-020750. PMID: 12364419.CrossRefPubMed Bülow Pedersen I, Knudsen N, Jørgensen T, Perrild H, Ovesen L, Laurberg P. Large differences in incidences of overt hyper- and hypothyroidism associated with a small difference in iodine intake: a prospective comparative register-based population survey. J Clin Endocrinol Metab. 2002;87(10):4462–9. https://​doi.​org/​10.​1210/​jc.​2002-020750. PMID: 12364419.CrossRefPubMed

go back to reference Limbach M, Saare M, Tserel L, Kisand K, Eglit T, Sauer S, et al. Epigenetic profiling in CD4+ and CD8+ T cells from Graves’ disease patients reveals changes in genes associated with T cell receptor signaling. J Autoimmun. 2016;67:46–56.PubMedCrossRef Limbach M, Saare M, Tserel L, Kisand K, Eglit T, Sauer S, et al. Epigenetic profiling in CD4+ and CD8+ T cells from Graves’ disease patients reveals changes in genes associated with T cell receptor signaling. J Autoimmun. 2016;67:46–56.PubMedCrossRef

go back to reference Cai TT, Muhali FS, Song RH, Qin Q, Wang X, Shi LF, et al. Genome-wide DNA methylation analysis in Graves’ disease. Genomics. 2015;105:204–10. https://doi.org/10.1016/j.ygeno.2015.01.001.CrossRefPubMed Cai TT, Muhali FS, Song RH, Qin Q, Wang X, Shi LF, et al. Genome-wide DNA methylation analysis in Graves’ disease. Genomics. 2015;105:204–10. https://​doi.​org/​10.​1016/​j.​ygeno.​2015.​01.​001.CrossRefPubMed

go back to reference Xin Z, Hua L, Shi TT, Tuo X, Yang FY, Li Y, Cao X, Yang JK. A genome-wide DNA methylation analysis in peripheral blood from patients identifies risk loci associated with Graves' orbitopathy. J Endocrinol Invest 2018;41(6):719-727. https://doi.org/10.1007/s40618-017-0796-6. PMID: 29190000. Xin Z, Hua L, Shi TT, Tuo X, Yang FY, Li Y, Cao X, Yang JK. A genome-wide DNA methylation analysis in peripheral blood from patients identifies risk loci associated with Graves' orbitopathy. J Endocrinol Invest 2018;41(6):719-727. https://​doi.​org/​10.​1007/​s40618-017-0796-6. PMID: 29190000.

go back to reference Shi TT, Hua L, Xin Z, Li Y, Liu W, Yang YL. Identifying and Validating Genes with DNA Methylation Data in the Context of Biological Network for Chinese Patients with Graves' Orbitopathy. Int J Endocrinol 2019;2019:6212681. https://doi.org/10.1155/2019/6212681. PMID: 31001336. Shi TT, Hua L, Xin Z, Li Y, Liu W, Yang YL. Identifying and Validating Genes with DNA Methylation Data in the Context of Biological Network for Chinese Patients with Graves' Orbitopathy. Int J Endocrinol 2019;2019:6212681. https://​doi.​org/​10.​1155/​2019/​6212681. PMID: 31001336.

go back to reference Grumet FC, Payne RO, Kinishi J, Kriss JP. HL A antigens as markers for disease susceptibility and autoimmunity in Grave’s disease. Journal of Clinical Endocrinology and Metabolism. 1974;39(6):1115–9.PubMedCrossRef Grumet FC, Payne RO, Kinishi J, Kriss JP. HL A antigens as markers for disease susceptibility and autoimmunity in Grave’s disease. Journal of Clinical Endocrinology and Metabolism. 1974;39(6):1115–9.PubMedCrossRef

go back to reference Yanagawa T, Mangklabruks A, Chang YB, Okamoto Y, Fisfalen ME, Curran PG, et al. Human histocompatibility leukocyte antigen-DQA1*0501 allele associated with genetic susceptibility to graves’ disease in a caucasian population. Journal of Clinical Endocrinology and Metabolism. 1993;76(6):1569–74.PubMed Yanagawa T, Mangklabruks A, Chang YB, Okamoto Y, Fisfalen ME, Curran PG, et al. Human histocompatibility leukocyte antigen-DQA1*0501 allele associated with genetic susceptibility to graves’ disease in a caucasian population. Journal of Clinical Endocrinology and Metabolism. 1993;76(6):1569–74.PubMed

go back to reference Heward JM, Allahabadia A, Daykin J, Carr-Smith J, Daly A, Armitage M, et al. Linkage disequilibrium between the human leukocyte antigen class II region of the major histocompatibility complex and Graves’ disease: Replication using a population case control and family-based study. Journal of Clinical Endocrinology and Metabolism. 1998;83(10):3394–7.PubMed Heward JM, Allahabadia A, Daykin J, Carr-Smith J, Daly A, Armitage M, et al. Linkage disequilibrium between the human leukocyte antigen class II region of the major histocompatibility complex and Graves’ disease: Replication using a population case control and family-based study. Journal of Clinical Endocrinology and Metabolism. 1998;83(10):3394–7.PubMed

go back to reference Katahira M, Ogata H, Takashima H, Ito T, Hodai Y, Miwata T, Goto M, Yamaguchi M, Mizoguchi A, Kawakubo M, Nakamura S. Critical amino acid variants in HLA-DRB1 allotypes in the development of Graves’ disease and Hashimoto’s thyroiditis in the Japanese population. Hum Immunol. 2021;82(4):226–31.PubMedCrossRef Katahira M, Ogata H, Takashima H, Ito T, Hodai Y, Miwata T, Goto M, Yamaguchi M, Mizoguchi A, Kawakubo M, Nakamura S. Critical amino acid variants in HLA-DRB1 allotypes in the development of Graves’ disease and Hashimoto’s thyroiditis in the Japanese population. Hum Immunol. 2021;82(4):226–31.PubMedCrossRef

go back to reference Ueda S, Oryoji D, Yamamoto K, Noh JY, Okamura K, Noda M, Kashiwase K, Kosuga Y, Sekiya K, Inoue K, Yamada H, Oyamada A, Nishimura Y, Yoshikai Y, Ito K, Sasazuki T. Identification of independent susceptible and protective HLA alleles in Japanese autoimmune thyroid disease and their epistasis. J Clin Endocrinol Metab. 2014;99(2):E379-83.PubMedCrossRef Ueda S, Oryoji D, Yamamoto K, Noh JY, Okamura K, Noda M, Kashiwase K, Kosuga Y, Sekiya K, Inoue K, Yamada H, Oyamada A, Nishimura Y, Yoshikai Y, Ito K, Sasazuki T. Identification of independent susceptible and protective HLA alleles in Japanese autoimmune thyroid disease and their epistasis. J Clin Endocrinol Metab. 2014;99(2):E379-83.PubMedCrossRef

go back to reference Park MH, Park YJ, Song EY, Park H, Kim TY, Park DJ, Park KS, Cho BY. Association of HLA-DR and -DQ genes with Graves disease in Koreans. Hum Immunol. 2005;66(6):741–7.PubMedCrossRef Park MH, Park YJ, Song EY, Park H, Kim TY, Park DJ, Park KS, Cho BY. Association of HLA-DR and -DQ genes with Graves disease in Koreans. Hum Immunol. 2005;66(6):741–7.PubMedCrossRef

go back to reference Wongsurawat T, Nakkuntod J, Charoenwongse P, Snabboon T, Sridama V, Hirankarn N. The association between HLA class II haplotype with Graves’ disease in Thai population. Tissue Antigens. 2006;67(1):79–83.PubMedCrossRef Wongsurawat T, Nakkuntod J, Charoenwongse P, Snabboon T, Sridama V, Hirankarn N. The association between HLA class II haplotype with Graves’ disease in Thai population. Tissue Antigens. 2006;67(1):79–83.PubMedCrossRef

go back to reference Ban Y, Davies TF, Greenberg DA, Concepcion ES, Osman R, Oashi T, Tomer Y. Arginine at position 74 of the HLA-DR beta1 chain is associated with Graves’ disease. Genes Immun. 2004;5(3):203–8.PubMedCrossRef Ban Y, Davies TF, Greenberg DA, Concepcion ES, Osman R, Oashi T, Tomer Y. Arginine at position 74 of the HLA-DR beta1 chain is associated with Graves’ disease. Genes Immun. 2004;5(3):203–8.PubMedCrossRef

go back to reference Yanagawa T, Hidaka Y, Guimaraes V, Soliman M, DeGroot LJ. CTLA-4 gene polymorphism associated with Graves’ disease in a Caucasian population. J Clin Endocrinol Metab. 1995;80(1):41–5.PubMed Yanagawa T, Hidaka Y, Guimaraes V, Soliman M, DeGroot LJ. CTLA-4 gene polymorphism associated with Graves’ disease in a Caucasian population. J Clin Endocrinol Metab. 1995;80(1):41–5.PubMed

go back to reference Kavvoura FK, Akamizu T, Awata T, Ban Y, Chistiakov DA, Frydecka I, Ghaderi A, Gough SC, Hiromatsu Y, Ploski R, Wang PW, Ban Y, Bednarczuk T, Chistiakova EI, Chojm M, Heward JM, Hiratani H, Juo SH, Karabon L, Katayama S, Kurihara S, Liu RT, Miyake I, Omrani GH, Pawlak E, Taniyama M, Tozaki T, Ioannidis JP. Cytotoxic T-lymphocyte associated antigen 4 gene polymorphisms and autoimmune thyroid disease: a meta-analysis. J Clin Endocrinol Metab. 2007;92(8):3162–70.PubMedCrossRef Kavvoura FK, Akamizu T, Awata T, Ban Y, Chistiakov DA, Frydecka I, Ghaderi A, Gough SC, Hiromatsu Y, Ploski R, Wang PW, Ban Y, Bednarczuk T, Chistiakova EI, Chojm M, Heward JM, Hiratani H, Juo SH, Karabon L, Katayama S, Kurihara S, Liu RT, Miyake I, Omrani GH, Pawlak E, Taniyama M, Tozaki T, Ioannidis JP. Cytotoxic T-lymphocyte associated antigen 4 gene polymorphisms and autoimmune thyroid disease: a meta-analysis. J Clin Endocrinol Metab. 2007;92(8):3162–70.PubMedCrossRef

go back to reference Vaidya B, Imrie H, Perros P, Dickinson J, McCarthy MI, Kendall-Taylor P, Pearce SH. Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy. Lancet. 1999;354(9180):743–4.PubMedCrossRef Vaidya B, Imrie H, Perros P, Dickinson J, McCarthy MI, Kendall-Taylor P, Pearce SH. Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy. Lancet. 1999;354(9180):743–4.PubMedCrossRef

go back to reference Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, Eisenbarth GS, Comings D, Mustelin T. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet. 2004;36(4):337–8.PubMedCrossRef Bottini N, Musumeci L, Alonso A, Rahmouni S, Nika K, Rostamkhani M, MacMurray J, Meloni GF, Lucarelli P, Pellecchia M, Eisenbarth GS, Comings D, Mustelin T. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet. 2004;36(4):337–8.PubMedCrossRef

go back to reference Velaga MR, Wilson V, Jennings CE, Owen CJ, Herington S, Donaldson PT, Ball SG, James RA, Quinton R, Perros P, Pearce SH. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves’ disease. J Clin Endocrinol Metab. 2004;89(11):5862–5.PubMedCrossRef Velaga MR, Wilson V, Jennings CE, Owen CJ, Herington S, Donaldson PT, Ball SG, James RA, Quinton R, Perros P, Pearce SH. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves’ disease. J Clin Endocrinol Metab. 2004;89(11):5862–5.PubMedCrossRef

go back to reference Smyth D, Cooper JD, Collins JE, Heward JM, Franklyn JA, Howson JM, Vella A, Nutland S, Rance HE, Maier L, Barratt BJ, Guja C, Ionescu-Tîrgoviste C, Savage DA, Dunger DB, Widmer B, Strachan DP, Ring SM, Walker N, Clayton DG, Twells RC, Gough SC, Todd JA. 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. 2004;53(11):3020–3.PubMedCrossRef Smyth D, Cooper JD, Collins JE, Heward JM, Franklyn JA, Howson JM, Vella A, Nutland S, Rance HE, Maier L, Barratt BJ, Guja C, Ionescu-Tîrgoviste C, Savage DA, Dunger DB, Widmer B, Strachan DP, Ring SM, Walker N, Clayton DG, Twells RC, Gough SC, Todd JA. 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. 2004;53(11):3020–3.PubMedCrossRef

go back to reference Tomer Y, Barbesino G, Greenberg DA, Concepcion ES, Davies TF. Mapping the major susceptibility loci for familial Graves’ and Hashimoto’s diseases: evidence for genetic heterogeneity and gene interactions. J Clin Endocrinol Metab. 1999;84:4656–64.PubMed Tomer Y, Barbesino G, Greenberg DA, Concepcion ES, Davies TF. Mapping the major susceptibility loci for familial Graves’ and Hashimoto’s diseases: evidence for genetic heterogeneity and gene interactions. J Clin Endocrinol Metab. 1999;84:4656–64.PubMed

go back to reference Taylor JC, Gough SC, Hunt PJ, Brix TH, Chatterjee K, Connell JM, Franklyn JA, Hegedus L, Robinson BG, Wiersinga WM, Wass JA, Zabaneh D, Mackay I, Weetman AP. A genome-wide screen in 1119 relative pairs with autoimmune thyroid disease. J Clin Endocrinol Metab. 2006;91(2):646–53. https://doi.org/10.1210/jc.2005-0686. Epub 2005 Nov 8 PMID: 16278270.CrossRefPubMed Taylor JC, Gough SC, Hunt PJ, Brix TH, Chatterjee K, Connell JM, Franklyn JA, Hegedus L, Robinson BG, Wiersinga WM, Wass JA, Zabaneh D, Mackay I, Weetman AP. A genome-wide screen in 1119 relative pairs with autoimmune thyroid disease. J Clin Endocrinol Metab. 2006;91(2):646–53. https://​doi.​org/​10.​1210/​jc.​2005-0686. Epub 2005 Nov 8 PMID: 16278270.CrossRefPubMed

go back to reference Vaidya B, Imrie H, Perros P, Young ET, Kelly WF, Carr D, Large DM, Toft AD, McCarthy MI, Kendall-Taylor P, Pearce SH. The cytotoxic T lymphocyte antigen-4 is a major Graves’ disease locus. Hum Mol Genet. 1999;8(7):1195–9. https://doi.org/10.1093/hmg/8.7.1195. PMID: 10369864.CrossRefPubMed Vaidya B, Imrie H, Perros P, Young ET, Kelly WF, Carr D, Large DM, Toft AD, McCarthy MI, Kendall-Taylor P, Pearce SH. The cytotoxic T lymphocyte antigen-4 is a major Graves’ disease locus. Hum Mol Genet. 1999;8(7):1195–9. https://​doi.​org/​10.​1093/​hmg/​8.​7.​1195. PMID: 10369864.CrossRefPubMed

go back to reference Tomer Y, Ban Y, Concepcion E, Barbesino G, Villanueva R, Greenberg DA, Davies TF. 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. 2003;73(4):736-47. https://doi.org/10.1086/378588. Epub 2003 Sep 12. PMID: 12973666; PMCID: PMC1180598. Tomer Y, Ban Y, Concepcion E, Barbesino G, Villanueva R, Greenberg DA, Davies TF. 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. 2003;73(4):736-47. https://​doi.​org/​10.​1086/​378588. Epub 2003 Sep 12. PMID: 12973666; PMCID: PMC1180598.

go back to reference Dechairo BM, Zabaneh D, Collins J, Brand O, Dawson GJ, Green AP, et al. Association of the TSHR gene with Graves’ disease: The first disease specific locus. European Journal of Human Genetics. 2005;13(11):1223–30.PubMedCrossRef Dechairo BM, Zabaneh D, Collins J, Brand O, Dawson GJ, Green AP, et al. Association of the TSHR gene with Graves’ disease: The first disease specific locus. European Journal of Human Genetics. 2005;13(11):1223–30.PubMedCrossRef

go back to reference Płoski R, Brand OJ, Jurecka-Lubieniecka B, Franaszczyk M, Kula D, Krajewski P, Karamat MA, Simmonds MJ, Franklyn JA, Gough SC, Jarząb B, Bednarczuk T. Thyroid stimulating hormone receptor (TSHR) intron 1 variants are major risk factors for Graves’ disease in three European Caucasian cohorts. PLoS One. 2010;5(11): e15512.PubMedPubMedCentralCrossRef Płoski R, Brand OJ, Jurecka-Lubieniecka B, Franaszczyk M, Kula D, Krajewski P, Karamat MA, Simmonds MJ, Franklyn JA, Gough SC, Jarząb B, Bednarczuk T. Thyroid stimulating hormone receptor (TSHR) intron 1 variants are major risk factors for Graves’ disease in three European Caucasian cohorts. PLoS One. 2010;5(11): e15512.PubMedPubMedCentralCrossRef

go back to reference Colobran R, Armengol Mdel P, Faner R, Gärtner M, Tykocinski LO, Lucas A, Ruiz M, Juan M, Kyewski B, Pujol-Borrell R. Association of an SNP with intrathymic transcription of TSHR and Graves’ disease: a role for defective thymic tolerance. Hum Mol Genet. 2011;20(17):3415–23.PubMedCrossRef Colobran R, Armengol Mdel P, Faner R, Gärtner M, Tykocinski LO, Lucas A, Ruiz M, Juan M, Kyewski B, Pujol-Borrell R. Association of an SNP with intrathymic transcription of TSHR and Graves’ disease: a role for defective thymic tolerance. Hum Mol Genet. 2011;20(17):3415–23.PubMedCrossRef

go back to reference Pujol-Borrell R, Álvarez-Sierra D, Jaraquemada D, Marín-Sánchez A, Colobran R. Central Tolerance Mechanisms to TSHR in Graves’ Disease: Contributions to Understand the Genetic Association. Horm Metab Res. 2018;50(12):863–70.PubMedCrossRef Pujol-Borrell R, Álvarez-Sierra D, Jaraquemada D, Marín-Sánchez A, Colobran R. Central Tolerance Mechanisms to TSHR in Graves’ Disease: Contributions to Understand the Genetic Association. Horm Metab Res. 2018;50(12):863–70.PubMedCrossRef

go back to reference Wellcome Trust Case Control Consortium; Australo-Anglo-American Spondylitis Consortium (TASC); Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M, Breen G, St Clair D, Caesar S, Gordon-Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskivina V, Nikolov I, O'Donovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Ferrier IN, Ball SG, Balmforth AJ, Barrett JH, Bishop TD, Iles MM, Maqbool A, Yuldasheva N, Hall AS, Braund PS, Dixon RJ, Mangino M, Stevens S, Thompson JR, Bredin F, Tremelling M, Parkes M, Drummond H, Lees CW, Nimmo ER, Satsangi J, Fisher SA, Forbes A, Lewis CM, Onnie CM, Prescott NJ, Sanderson J, Matthew CG, Barbour J, Mohiuddin MK, Todhunter CE, Mansfield JC, Ahmad T, Cummings FR, Jewell DP, Webster J, Brown MJ, Lathrop MG, Connell J, Dominiczak A, Marcano CA, Burke B, Dobson R, Gungadoo J, Lee KL, Munroe PB, Newhouse SJ, Onipinla A, Wallace C, Xue M, Caulfield M, Farrall M, Barton A; Biologics in RA Genetics and Genomics Study Syndicate (BRAGGS) Steering Committee; Bruce IN, Donovan H, Eyre S, Gilbert PD, Hilder SL, Hinks AM, John SL, Potter C, Silman AJ, Symmons DP, Thomson W, Worthington J, Dunger DB, Widmer B, Frayling TM, Freathy RM, Lango H, Perry JR, Shields BM, Weedon MN, Hattersley AT, Hitman GA, Walker M, Elliott KS, Groves CJ, Lindgren CM, Rayner NW, Timpson NJ, Zeggini E, Newport M, Sirugo G, Lyons E, Vannberg F, Hill AV, Bradbury LA, Farrar C, Pointon JJ, Wordsworth P, Brown MA, Franklyn JA, Heward JM, Simmonds MJ, Gough SC, Seal S; Breast Cancer Susceptibility Collaboration (UK); Stratton MR, Rahman N, Ban M, Goris A, Sawcer SJ, Compston A, Conway D, Jallow M, Newport M, Sirugo G, Rockett KA, Bumpstead SJ, Chaney A, Downes K, Ghori MJ, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Widden C, Withers D, Cardin NJ, Davison D, Ferreira T, Pereira-Gale J, Hallgrimsdo'ttir IB, Howie BN, Su Z, Teo YY, Vukcevic D, Bentley D, Brown MA, Compston A, Farrall M, Hall AS, Hattersley AT, Hill AV, Parkes M, Pembrey M, Stratton MR, Mitchell SL, Newby PR, Brand OJ, Carr-Smith J, Pearce SH, McGinnis R, Keniry A, Deloukas P, Reveille JD, Zhou X, Sims AM, Dowling A, Taylor J, Doan T, Davis JC, Savage L, Ward MM, Learch TL, Weisman MH, Brown M. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet. 2007;39(11):1329-37. Wellcome Trust Case Control Consortium; Australo-Anglo-American Spondylitis Consortium (TASC); Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M, Breen G, St Clair D, Caesar S, Gordon-Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskivina V, Nikolov I, O'Donovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Ferrier IN, Ball SG, Balmforth AJ, Barrett JH, Bishop TD, Iles MM, Maqbool A, Yuldasheva N, Hall AS, Braund PS, Dixon RJ, Mangino M, Stevens S, Thompson JR, Bredin F, Tremelling M, Parkes M, Drummond H, Lees CW, Nimmo ER, Satsangi J, Fisher SA, Forbes A, Lewis CM, Onnie CM, Prescott NJ, Sanderson J, Matthew CG, Barbour J, Mohiuddin MK, Todhunter CE, Mansfield JC, Ahmad T, Cummings FR, Jewell DP, Webster J, Brown MJ, Lathrop MG, Connell J, Dominiczak A, Marcano CA, Burke B, Dobson R, Gungadoo J, Lee KL, Munroe PB, Newhouse SJ, Onipinla A, Wallace C, Xue M, Caulfield M, Farrall M, Barton A; Biologics in RA Genetics and Genomics Study Syndicate (BRAGGS) Steering Committee; Bruce IN, Donovan H, Eyre S, Gilbert PD, Hilder SL, Hinks AM, John SL, Potter C, Silman AJ, Symmons DP, Thomson W, Worthington J, Dunger DB, Widmer B, Frayling TM, Freathy RM, Lango H, Perry JR, Shields BM, Weedon MN, Hattersley AT, Hitman GA, Walker M, Elliott KS, Groves CJ, Lindgren CM, Rayner NW, Timpson NJ, Zeggini E, Newport M, Sirugo G, Lyons E, Vannberg F, Hill AV, Bradbury LA, Farrar C, Pointon JJ, Wordsworth P, Brown MA, Franklyn JA, Heward JM, Simmonds MJ, Gough SC, Seal S; Breast Cancer Susceptibility Collaboration (UK); Stratton MR, Rahman N, Ban M, Goris A, Sawcer SJ, Compston A, Conway D, Jallow M, Newport M, Sirugo G, Rockett KA, Bumpstead SJ, Chaney A, Downes K, Ghori MJ, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Widden C, Withers D, Cardin NJ, Davison D, Ferreira T, Pereira-Gale J, Hallgrimsdo'ttir IB, Howie BN, Su Z, Teo YY, Vukcevic D, Bentley D, Brown MA, Compston A, Farrall M, Hall AS, Hattersley AT, Hill AV, Parkes M, Pembrey M, Stratton MR, Mitchell SL, Newby PR, Brand OJ, Carr-Smith J, Pearce SH, McGinnis R, Keniry A, Deloukas P, Reveille JD, Zhou X, Sims AM, Dowling A, Taylor J, Doan T, Davis JC, Savage L, Ward MM, Learch TL, Weisman MH, Brown M. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet. 2007;39(11):1329-37.

go back to reference Owen CJ, Kelly H, Eden JA, Merriman ME, Pearce SH, Merriman TR. Analysis of the Fc receptor-like-3 (FCRL3) locus in Caucasians with autoimmune disorders suggests a complex pattern of disease association. J Clin Endocrinol Metab. 2007;92(3):1106–11. https://doi.org/10.1210/jc.2006-2183. Epub 2007 Jan 2 PMID: 17200162.CrossRefPubMed Owen CJ, Kelly H, Eden JA, Merriman ME, Pearce SH, Merriman TR. Analysis of the Fc receptor-like-3 (FCRL3) locus in Caucasians with autoimmune disorders suggests a complex pattern of disease association. J Clin Endocrinol Metab. 2007;92(3):1106–11. https://​doi.​org/​10.​1210/​jc.​2006-2183. Epub 2007 Jan 2 PMID: 17200162.CrossRefPubMed

go back to reference Chistiakov DA, Chistiakov AP. Is FCRL3 a new general autoimmunity gene? Hum Immunol. 2007;68(5):375–83. https://doi.org/10.1016/j.humimm.2007.01.013.CrossRefPubMed Chistiakov DA, Chistiakov AP. Is FCRL3 a new general autoimmunity gene? Hum Immunol. 2007;68(5):375–83. https://​doi.​org/​10.​1016/​j.​humimm.​2007.​01.​013.CrossRefPubMed

go back to reference Newby PR, Pickles OJ, Mazumdar S, Brand OJ, Carr-Smith JD, Pearce SH, Franklyn JA; Wellcome Trust Case-Control Consortium (WTCCC); Evans DM, Simmonds MJ, Gough SC. Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. Eur J Hum Genet. 2010 ;18(9):1021-6. https://doi.org/10.1038/ejhg.2010.55. Newby PR, Pickles OJ, Mazumdar S, Brand OJ, Carr-Smith JD, Pearce SH, Franklyn JA; Wellcome Trust Case-Control Consortium (WTCCC); Evans DM, Simmonds MJ, Gough SC. Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. Eur J Hum Genet. 2010 ;18(9):1021-6. https://​doi.​org/​10.​1038/​ejhg.​2010.​55.

go back to reference Sakai K, Shirasawa S, Ishikawa N, Ito K, Tamai H, Kuma K, Akamizu T, Tanimura M, Furugaki K, Yamamoto K, Sasazuki T. 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. 2001;10:1379–86.PubMedCrossRef Sakai K, Shirasawa S, Ishikawa N, Ito K, Tamai H, Kuma K, Akamizu T, Tanimura M, Furugaki K, Yamamoto K, Sasazuki T. 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. 2001;10:1379–86.PubMedCrossRef

go back to reference Jin Y, Teng W, Ben S, Xiong X, Zhang J, Xu S, Shugart YY, Jin L, Chen J, Huang W. Genome-wide scan of Graves’ disease: evidence for linkage on chromosome 5q31 in Chinese Han pedigrees. J Clin Endocrinol Metab. 2003;88(4):1798–803. https://doi.org/10.1210/jc.2001-011980. PMID: 12679476.CrossRefPubMed Jin Y, Teng W, Ben S, Xiong X, Zhang J, Xu S, Shugart YY, Jin L, Chen J, Huang W. Genome-wide scan of Graves’ disease: evidence for linkage on chromosome 5q31 in Chinese Han pedigrees. J Clin Endocrinol Metab. 2003;88(4):1798–803. https://​doi.​org/​10.​1210/​jc.​2001-011980. PMID: 12679476.CrossRefPubMed

go back to reference Song HD, Liang J, Shi JY, Zhao SX, Liu Z, Zhao JJ, Peng YD, Gao GQ, Tao J, Pan CM, Shao L, Cheng F, Wang Y, Yuan GY, Xu C, Han B, Huang W, Chu X, Chen Y, Sheng Y, Li RY, Su Q, Gao L, Jia WP, Jin L, Chen MD, Chen SJ, Chen Z, Chen JL. 2009. Functional SNPs in the SCGB3A2 promoter are associated with susceptibility to Graves' disease. Hum Mol Genet. 2009;18(6):1156-70. https://doi.org/10.1093/hmg/ddn442. Song HD, Liang J, Shi JY, Zhao SX, Liu Z, Zhao JJ, Peng YD, Gao GQ, Tao J, Pan CM, Shao L, Cheng F, Wang Y, Yuan GY, Xu C, Han B, Huang W, Chu X, Chen Y, Sheng Y, Li RY, Su Q, Gao L, Jia WP, Jin L, Chen MD, Chen SJ, Chen Z, Chen JL. 2009. Functional SNPs in the SCGB3A2 promoter are associated with susceptibility to Graves' disease. Hum Mol Genet. 2009;18(6):1156-70. https://​doi.​org/​10.​1093/​hmg/​ddn442.

go back to reference Zhou Z, Zuo CL, Li XS, Ye XP, Zhang QY, Wang P, Zhang RX, Chen G, Yang JL, Chen Y, Ma QY, Song HD. Uterus globulin associated protein 1 (UGRP1) is a potential marker of progression of Graves’ disease into hypothyroidism. Mol Cell Endocrinol. 2019;20(494): 110492. https://doi.org/10.1016/j.mce.2019.110492.CrossRef Zhou Z, Zuo CL, Li XS, Ye XP, Zhang QY, Wang P, Zhang RX, Chen G, Yang JL, Chen Y, Ma QY, Song HD. Uterus globulin associated protein 1 (UGRP1) is a potential marker of progression of Graves’ disease into hypothyroidism. Mol Cell Endocrinol. 2019;20(494): 110492. https://​doi.​org/​10.​1016/​j.​mce.​2019.​110492.CrossRef

go back to reference Simmonds MJ, Yesmin K, Newby PR, Brand OJ, Franklyn JA, Gough SC. Confirmation of association of chromosome 5q31-33 with United Kingdom Caucasian Graves’ disease. Thyroid. 2010;20(4):413–7. https://doi.org/10.1089/thy.2009.0375. PMID: 20210668.CrossRefPubMed Simmonds MJ, Yesmin K, Newby PR, Brand OJ, Franklyn JA, Gough SC. Confirmation of association of chromosome 5q31-33 with United Kingdom Caucasian Graves’ disease. Thyroid. 2010;20(4):413–7. https://​doi.​org/​10.​1089/​thy.​2009.​0375. PMID: 20210668.CrossRefPubMed

go back to reference Chu X, Pan CM, Zhao SX, Liang J, Gao GQ, Zhang XM, Yuan GY, Li CG, Xue LQ, Shen M, Liu W, Xie F, Yang SY, Wang HF, Shi JY, Sun WW, Du WH, Zuo CL, Shi JX, Liu BL, Guo CC, Zhan M, Gu ZH, Zhang XN, Sun F, Wang ZQ, Song ZY, Zou CY, Sun WH, Guo T, Cao HM, Ma JH, Han B, Li P, Jiang H, Huang QH, Liang L, Liu LB, Chen G, Su Q, Peng YD, Zhao JJ, Ning G, Chen Z, Chen JL, Chen SJ, Huang W, Song HD; China Consortium for Genetics of Autoimmune Thyroid Disease. A genome-wide association study identifies two new risk loci for Graves' disease. Nat Genet. 2011;43(9):897-901. https://doi.org/10.1038/ng.898. Chu X, Pan CM, Zhao SX, Liang J, Gao GQ, Zhang XM, Yuan GY, Li CG, Xue LQ, Shen M, Liu W, Xie F, Yang SY, Wang HF, Shi JY, Sun WW, Du WH, Zuo CL, Shi JX, Liu BL, Guo CC, Zhan M, Gu ZH, Zhang XN, Sun F, Wang ZQ, Song ZY, Zou CY, Sun WH, Guo T, Cao HM, Ma JH, Han B, Li P, Jiang H, Huang QH, Liang L, Liu LB, Chen G, Su Q, Peng YD, Zhao JJ, Ning G, Chen Z, Chen JL, Chen SJ, Huang W, Song HD; China Consortium for Genetics of Autoimmune Thyroid Disease. A genome-wide association study identifies two new risk loci for Graves' disease. Nat Genet. 2011;43(9):897-901. https://​doi.​org/​10.​1038/​ng.​898.

go back to reference Zhao SX, Xue LQ, Liu W, Gu ZH, Pan CM, Yang SY, Zhan M, Wang HN, Liang J, Gao GQ, Zhang XM, Yuan GY, Li CG, Du WH, Liu BL, Liu LB, Chen G, Su Q, Peng YD, Zhao JJ, Ning G, Huang W, Liang L, Qi L, Chen SJ, Chen Z, Chen JL, Song HD; China Consortium for the Genetics of Autoimmune Thyroid Disease. Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis. Hum Mol Genet. 2013;22(16):3347-62. https://doi.org/10.1093/hmg/ddt183. Zhao SX, Xue LQ, Liu W, Gu ZH, Pan CM, Yang SY, Zhan M, Wang HN, Liang J, Gao GQ, Zhang XM, Yuan GY, Li CG, Du WH, Liu BL, Liu LB, Chen G, Su Q, Peng YD, Zhao JJ, Ning G, Huang W, Liang L, Qi L, Chen SJ, Chen Z, Chen JL, Song HD; China Consortium for the Genetics of Autoimmune Thyroid Disease. Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis. Hum Mol Genet. 2013;22(16):3347-62. https://​doi.​org/​10.​1093/​hmg/​ddt183.

go back to reference Gu LQ, Zhu W, Zhao SX, Zhao L, Zhang MJ, Cui B, Song HD, Ning G, Zhao YJ. Clinical associations of the genetic variants of CTLA-4, Tg, TSHR, PTPN22, PTPN12 and FCRL3 in patients with Graves’ disease. Clin Endocrinol (Oxf). 2010;72(2):248–55. https://doi.org/10.1111/j.1365-2265.2009.03617.x.CrossRefPubMed Gu LQ, Zhu W, Zhao SX, Zhao L, Zhang MJ, Cui B, Song HD, Ning G, Zhao YJ. Clinical associations of the genetic variants of CTLA-4, Tg, TSHR, PTPN22, PTPN12 and FCRL3 in patients with Graves’ disease. Clin Endocrinol (Oxf). 2010;72(2):248–55. https://​doi.​org/​10.​1111/​j.​1365-2265.​2009.​03617.​x.CrossRefPubMed

go back to reference Liu W, Wang HN, Gu ZH, Yang SY, Ye XP, Pan CM, Zhao SX, Xue LQ, Xie HJ, Yu SS, Guo CC, Du WH, Liang J, Zhang XM, Yuan GY, Li CG, Su Q, Gao GQ, Song HD; China Consortium for the Genetics of Autoimmune Thyroid Disease. Identification of BACH2 as a susceptibility gene for Graves' disease in the Chinese Han population based on a three-stage genome-wide association study. Hum Genet. 2014;133(5):661-71. https://doi.org/10.1007/s00439-013-1404-2. Liu W, Wang HN, Gu ZH, Yang SY, Ye XP, Pan CM, Zhao SX, Xue LQ, Xie HJ, Yu SS, Guo CC, Du WH, Liang J, Zhang XM, Yuan GY, Li CG, Su Q, Gao GQ, Song HD; China Consortium for the Genetics of Autoimmune Thyroid Disease. Identification of BACH2 as a susceptibility gene for Graves' disease in the Chinese Han population based on a three-stage genome-wide association study. Hum Genet. 2014;133(5):661-71. https://​doi.​org/​10.​1007/​s00439-013-1404-2.

go back to reference Cooper JD, Simmonds MJ, Walker NM, Burren O, Brand OJ, Guo H, Wallace C, Stevens H, Coleman G; Wellcome Trust Case Control Consortium; Franklyn JA, Todd JA, Gough SC. Seven newly identified loci for autoimmune thyroid disease. Hum Mol Genet. 2012;21(23):5202-8. https://doi.org/10.1093/hmg/dds357. Cooper JD, Simmonds MJ, Walker NM, Burren O, Brand OJ, Guo H, Wallace C, Stevens H, Coleman G; Wellcome Trust Case Control Consortium; Franklyn JA, Todd JA, Gough SC. Seven newly identified loci for autoimmune thyroid disease. Hum Mol Genet. 2012;21(23):5202-8. https://​doi.​org/​10.​1093/​hmg/​dds357.

go back to reference Muto A, Tashiro S, Nakajima O, Hoshino H, Takahashi S, Sakoda E, Ikebe D, Yamamoto M, Igarashi K. The transcriptional programme of antibody class switching involves the repressor Bach2. Nature. 2004;429(6991):566–71. https://doi.org/10.1038/nature02596.CrossRefPubMed Muto A, Tashiro S, Nakajima O, Hoshino H, Takahashi S, Sakoda E, Ikebe D, Yamamoto M, Igarashi K. The transcriptional programme of antibody class switching involves the repressor Bach2. Nature. 2004;429(6991):566–71. https://​doi.​org/​10.​1038/​nature02596.CrossRefPubMed

go back to reference Pazderska A, Oftedal BE, Napier CM, Ainsworth HF, Husebye ES, Cordell HJ, Pearce SH, Mitchell AL. A Variant in the BACH2 Gene Is Associated With Susceptibility to Autoimmune Addison’s Disease in Humans. J Clin Endocrinol Metab. 2016;101(11):3865–9. https://doi.org/10.1210/jc.2016-2368.CrossRefPubMedPubMedCentral Pazderska A, Oftedal BE, Napier CM, Ainsworth HF, Husebye ES, Cordell HJ, Pearce SH, Mitchell AL. A Variant in the BACH2 Gene Is Associated With Susceptibility to Autoimmune Addison’s Disease in Humans. J Clin Endocrinol Metab. 2016;101(11):3865–9. https://​doi.​org/​10.​1210/​jc.​2016-2368.CrossRefPubMedPubMedCentral

go back to reference McAllister K, Yarwood A, Bowes J, Orozco G, Viatte S, Diogo D, Hocking LJ, Steer S, Wordsworth P, Wilson AG, Morgan AW. UK Rheumatoid Arthritis Genetics Consortium; Rheumatoid Arthritis Consortium International; Identification of BACH2 and RAD51B as rheumatoid arthritis susceptibility loci in a meta-analysis of genome-wide data. Arthritis Rheum. 2013;65(12):3058–62. https://doi.org/10.1002/art.38183.CrossRefPubMedPubMedCentral McAllister K, Yarwood A, Bowes J, Orozco G, Viatte S, Diogo D, Hocking LJ, Steer S, Wordsworth P, Wilson AG, Morgan AW. UK Rheumatoid Arthritis Genetics Consortium; Rheumatoid Arthritis Consortium International; Identification of BACH2 and RAD51B as rheumatoid arthritis susceptibility loci in a meta-analysis of genome-wide data. Arthritis Rheum. 2013;65(12):3058–62. https://​doi.​org/​10.​1002/​art.​38183.CrossRefPubMedPubMedCentral

go back to reference Cooper JD, Smyth DJ, Smiles AM, Plagnol V, Walker NM, Allen JE, Downes K, Barrett JC, Healy BC, Mychaleckyj JC, Warram JH, Todd JA. Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. Nat Genet. 2008;40(12):1399-401. https://doi.org/10.1038/ng.249. Epub 2008 Nov 2. PMID: 18978792; PMCID: PMC2635556. Cooper JD, Smyth DJ, Smiles AM, Plagnol V, Walker NM, Allen JE, Downes K, Barrett JC, Healy BC, Mychaleckyj JC, Warram JH, Todd JA. Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. Nat Genet. 2008;40(12):1399-401. https://​doi.​org/​10.​1038/​ng.​249. Epub 2008 Nov 2. PMID: 18978792; PMCID: PMC2635556.

go back to reference Saevarsdottir S, Olafsdottir TA, Ivarsdottir EV, et al. FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease. Nature. 2020;584:619–23. https://doi.org/10.1038/s41586-020-2436-0.CrossRefPubMed Saevarsdottir S, Olafsdottir TA, Ivarsdottir EV, et al. FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease. Nature. 2020;584:619–23. https://​doi.​org/​10.​1038/​s41586-020-2436-0.CrossRefPubMed

go back to reference Wang K, Zhu Q, Lu Y, Lu H, Zhang F, Wang X, Fan Y. CTLA-4 +49 G/A Polymorphism Confers Autoimmune Disease Risk: An Updated Meta-Analysis. Genet Test Mol Biomarkers. 2017;21(4):222–7.PubMedCrossRef Wang K, Zhu Q, Lu Y, Lu H, Zhang F, Wang X, Fan Y. CTLA-4 +49 G/A Polymorphism Confers Autoimmune Disease Risk: An Updated Meta-Analysis. Genet Test Mol Biomarkers. 2017;21(4):222–7.PubMedCrossRef

go back to reference Eliana F, Suwondo P, Asmarinah A, et al. The Role of Cytotoxic T-lymphocyte-associated Protein 4 (CTLA-4) Gene, Thyroid Stimulating Hormone Receptor (TSHR) Gene and Regulatory T-cells as Risk Factors for Relapse in Patients with Graves Disease. Acta Med Indones. 2017;49(3):195–204.PubMed Eliana F, Suwondo P, Asmarinah A, et al. The Role of Cytotoxic T-lymphocyte-associated Protein 4 (CTLA-4) Gene, Thyroid Stimulating Hormone Receptor (TSHR) Gene and Regulatory T-cells as Risk Factors for Relapse in Patients with Graves Disease. Acta Med Indones. 2017;49(3):195–204.PubMed

go back to reference Tanrikulu S, Erbil Y, Ademoglu E, et al. The predictive value of CTLA-4 and Tg polymorphisms in the recurrence of Graves’ disease after antithyroid withdrawal. Endocrine. 2006;30(3):377–81.PubMedCrossRef Tanrikulu S, Erbil Y, Ademoglu E, et al. The predictive value of CTLA-4 and Tg polymorphisms in the recurrence of Graves’ disease after antithyroid withdrawal. Endocrine. 2006;30(3):377–81.PubMedCrossRef

go back to reference Sahin M, Erdogan MF, Erdogan G. Cytotoxic T lymphocyte-associated molecule-4 polymorphisms in Turkish Graves’ disease patients and association with probability of remission after antithyroid therapy. Eur J Intern Med. 2005;16(5):352–5.PubMedCrossRef Sahin M, Erdogan MF, Erdogan G. Cytotoxic T lymphocyte-associated molecule-4 polymorphisms in Turkish Graves’ disease patients and association with probability of remission after antithyroid therapy. Eur J Intern Med. 2005;16(5):352–5.PubMedCrossRef

go back to reference Vos XG, Wiersinga WM, Endert E, Zwinderman AH, Tijssen JGP. Predicting the Risk of Recurrence Before the Start of Antithyroid Drug Therapy in Patients With Graves’ Hyperthyroidism. The Journal of Clinical Endocrinology & Metabolism. 2016;101(4):1381–9.CrossRef Vos XG, Wiersinga WM, Endert E, Zwinderman AH, Tijssen JGP. Predicting the Risk of Recurrence Before the Start of Antithyroid Drug Therapy in Patients With Graves’ Hyperthyroidism. The Journal of Clinical Endocrinology & Metabolism. 2016;101(4):1381–9.CrossRef

go back to reference Kuś A, Radziszewski M, Glina A, Szymański K, Jurecka-Lubieniecka B, Pawlak-Adamska E, Kula D, Wawrusiewicz-Kurylonek N, Kuś J, Miśkiewicz P, Płoski R, Bolanowski M, Daroszewski J, Jarząb B, Bossowski A, Bednarczuk T. Paediatric-onset and adult-onset Graves’ disease share multiple genetic risk factors. Clin Endocrinol (Oxf). 2019;90(2):320–7.PubMedCrossRef Kuś A, Radziszewski M, Glina A, Szymański K, Jurecka-Lubieniecka B, Pawlak-Adamska E, Kula D, Wawrusiewicz-Kurylonek N, Kuś J, Miśkiewicz P, Płoski R, Bolanowski M, Daroszewski J, Jarząb B, Bossowski A, Bednarczuk T. Paediatric-onset and adult-onset Graves’ disease share multiple genetic risk factors. Clin Endocrinol (Oxf). 2019;90(2):320–7.PubMedCrossRef

go back to reference Lane LC, Kuś A, Bednarczuk T, Bossowski A, Daroszewski J, Jurecka-Lubieniecka B, Cordell HJ, Pearce SHS, Cheetham T, Mitchell AL. An Intronic HCP5 Variant Is Associated With Age of Onset and Susceptibility to Graves Disease in UK and Polish Cohorts. J Clin Endocrinol Metab. 2020;105(9):e3277-84.PubMedPubMedCentralCrossRef Lane LC, Kuś A, Bednarczuk T, Bossowski A, Daroszewski J, Jurecka-Lubieniecka B, Cordell HJ, Pearce SHS, Cheetham T, Mitchell AL. An Intronic HCP5 Variant Is Associated With Age of Onset and Susceptibility to Graves Disease in UK and Polish Cohorts. J Clin Endocrinol Metab. 2020;105(9):e3277-84.PubMedPubMedCentralCrossRef

go back to reference García-Mayor RV, Álvarez-Vázquez P, Fluiters E, Valverde D, Andrade A. Long-term remission following antithyroid drug withdrawal in patients with Graves’ hyperthyroidism: parameters with prognostic value. Endocrine. 2019;63(2):316–22.PubMedCrossRef García-Mayor RV, Álvarez-Vázquez P, Fluiters E, Valverde D, Andrade A. Long-term remission following antithyroid drug withdrawal in patients with Graves’ hyperthyroidism: parameters with prognostic value. Endocrine. 2019;63(2):316–22.PubMedCrossRef

go back to reference Hsiao JY, Hsieh MC, Tien KJ, Hsu SC, Shin SJ, Lin SR. 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. 2007;92(8):3197–201.PubMedCrossRef Hsiao JY, Hsieh MC, Tien KJ, Hsu SC, Shin SJ, Lin SR. 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. 2007;92(8):3197–201.PubMedCrossRef

go back to reference Wang PW, Chen IY, Liu RT, Hsieh CJ, Hsi E, Juo SH. CTLA-4 gene polymorphism and hyperthyroid Graves’ disease relapse after antithyroid drug withdrawal: a follow-up study. J Clin Endocrinol Metab. 2007;92:2513–8.PubMedCrossRef Wang PW, Chen IY, Liu RT, Hsieh CJ, Hsi E, Juo SH. CTLA-4 gene polymorphism and hyperthyroid Graves’ disease relapse after antithyroid drug withdrawal: a follow-up study. J Clin Endocrinol Metab. 2007;92:2513–8.PubMedCrossRef

go back to reference Wang PW, Chen IY, Juo SH, Hsi E, Liu RT, Hsieh CJ. Genotype and phenotype predictors of relapse of graves’ disease after antithyroid drug withdrawal. Eur Thyroid J. 2013;1(4):251–8.PubMedCrossRef Wang PW, Chen IY, Juo SH, Hsi E, Liu RT, Hsieh CJ. Genotype and phenotype predictors of relapse of graves’ disease after antithyroid drug withdrawal. Eur Thyroid J. 2013;1(4):251–8.PubMedCrossRef

go back to reference Vejrazkova D, Vcelak J, Vaclavikova E, Vankova M, Zajickova K, Vrbikova J, Duskova M, Pacesova P, Novak Z, Bendlova B. Recurrence of Graves’ Disease: What Genetics of HLA and PTPN22 Can Tell Us. Front Endocrinol (Lausanne). 2021;23(12): 761077.CrossRef Vejrazkova D, Vcelak J, Vaclavikova E, Vankova M, Zajickova K, Vrbikova J, Duskova M, Pacesova P, Novak Z, Bendlova B. Recurrence of Graves’ Disease: What Genetics of HLA and PTPN22 Can Tell Us. Front Endocrinol (Lausanne). 2021;23(12): 761077.CrossRef

go back to reference Kinjo Y, Takasu N, Komiya I, et al. Remission of Graves’ hyperthyroidism and A/G polymorphism at position 49 in exon 1 of cytotoxic T lymphocyte-associated molecule-4 gene. J Clin Endocrinol Metab. 2002;87(6):2593–6.PubMed Kinjo Y, Takasu N, Komiya I, et al. Remission of Graves’ hyperthyroidism and A/G polymorphism at position 49 in exon 1 of cytotoxic T lymphocyte-associated molecule-4 gene. J Clin Endocrinol Metab. 2002;87(6):2593–6.PubMed

go back to reference Kim KW, Park YJ, Kim TY, Park DJ, Park KS, Cho BY. Susceptible alleles of the CD40 and CTLA-4 genes are not associated with the relapse after antithyroid withdrawal in Graves’ disease. Thyroid. 2007;17(12):1229–34.PubMedCrossRef Kim KW, Park YJ, Kim TY, Park DJ, Park KS, Cho BY. Susceptible alleles of the CD40 and CTLA-4 genes are not associated with the relapse after antithyroid withdrawal in Graves’ disease. Thyroid. 2007;17(12):1229–34.PubMedCrossRef

go back to reference Vejrazkova D, Vcelak J, Vaclavikova E, Vankova M, Zajickova K, Vrbikova J, Duskova M, Pacesova P, Novak Z, Bendlova B. Recurrence of Graves’ Disease: What Genetics of HLA and PTPN22 Can Tell Us. Front Endocrinol (Lausanne). 2021;23(12): 761077.CrossRef Vejrazkova D, Vcelak J, Vaclavikova E, Vankova M, Zajickova K, Vrbikova J, Duskova M, Pacesova P, Novak Z, Bendlova B. Recurrence of Graves’ Disease: What Genetics of HLA and PTPN22 Can Tell Us. Front Endocrinol (Lausanne). 2021;23(12): 761077.CrossRef

go back to reference Allison JP, Krummel MF. The Yin and Yang of T cell costimulation. Science. 1995;270(5238):932–3.PubMedCrossRef Allison JP, Krummel MF. The Yin and Yang of T cell costimulation. Science. 1995;270(5238):932–3.PubMedCrossRef

go back to reference Vang T, Liu WH, Delacroix L, Wu S, Vasile S, Dahl R, Yang L, Musumeci L, Francis D, Landskron J, Tasken K, Tremblay ML, Lie BA, Page R, Mustelin T, Rahmouni S, Rickert RC, Tautz L. LYP inhibits T-cell activation when dissociated from CSK. Nat Chem Biol. 2012;8(5):437–46.PubMedPubMedCentralCrossRef Vang T, Liu WH, Delacroix L, Wu S, Vasile S, Dahl R, Yang L, Musumeci L, Francis D, Landskron J, Tasken K, Tremblay ML, Lie BA, Page R, Mustelin T, Rahmouni S, Rickert RC, Tautz L. LYP inhibits T-cell activation when dissociated from CSK. Nat Chem Biol. 2012;8(5):437–46.PubMedPubMedCentralCrossRef

go back to reference Ban Y, Davies TF, Greenberg DA, Kissin A, Marder B, Murphy B, Concepcion ES, Villanueva RB, Barbesino G, Ling V, Tomer Y. Analysis of the CTLA-4, CD28, and inducible costimulator (ICOS) genes in autoimmune thyroid disease. Genes Immun. 2003;4(8):586–93.PubMedCrossRef Ban Y, Davies TF, Greenberg DA, Kissin A, Marder B, Murphy B, Concepcion ES, Villanueva RB, Barbesino G, Ling V, Tomer Y. Analysis of the CTLA-4, CD28, and inducible costimulator (ICOS) genes in autoimmune thyroid disease. Genes Immun. 2003;4(8):586–93.PubMedCrossRef

go back to reference Valta M, Gazali AM, Viisanen T, et al. Type 1 diabetes linked PTPN22 gene polymorphism is associated with the frequency of circulating regulatory T cells. Eur J Immunol. 2020;50(4):581–8.PubMedCrossRef Valta M, Gazali AM, Viisanen T, et al. Type 1 diabetes linked PTPN22 gene polymorphism is associated with the frequency of circulating regulatory T cells. Eur J Immunol. 2020;50(4):581–8.PubMedCrossRef

go back to reference Elgueta R, Benson MJ, de Vries VC, Wasiuk A, Guo Y, Noelle RJ. Molecular mechanism and function of CD40/CD40L engagement in the immune system. Immunol Rev. 2009;229(1):152–72.PubMedCrossRef Elgueta R, Benson MJ, de Vries VC, Wasiuk A, Guo Y, Noelle RJ. Molecular mechanism and function of CD40/CD40L engagement in the immune system. Immunol Rev. 2009;229(1):152–72.PubMedCrossRef

go back to reference Faustino LC, Kahaly GJ, Frommer L, Concepcion E, Stefan-Lifshitz M, Tomer Y. Precision Medicine in Graves’ Disease: CD40 Gene Variants Predict Clinical Response to an Anti-CD40 Monoclonal Antibody. Front Endocrinol (Lausanne). 2021;4(12): 691781.CrossRef Faustino LC, Kahaly GJ, Frommer L, Concepcion E, Stefan-Lifshitz M, Tomer Y. Precision Medicine in Graves’ Disease: CD40 Gene Variants Predict Clinical Response to an Anti-CD40 Monoclonal Antibody. Front Endocrinol (Lausanne). 2021;4(12): 691781.CrossRef

go back to reference Li CW, Osman R, Menconi F, Concepcion E, Tomer Y. Cepharanthine blocks TSH receptor peptide presentation by HLA-DR3: Therapeutic implications to Graves’ disease. J Autoimmun. 2020;108: 102402.PubMedPubMedCentralCrossRef Li CW, Osman R, Menconi F, Concepcion E, Tomer Y. Cepharanthine blocks TSH receptor peptide presentation by HLA-DR3: Therapeutic implications to Graves’ disease. J Autoimmun. 2020;108: 102402.PubMedPubMedCentralCrossRef

go back to reference Gong ST, Chao IM. Changes in serum thyroglobulin and thyroid autoantibodies in patients with Graves’ disease treated with antithyroid drug and their relationship to relapse. J Formos Med Assoc. 1991;90(12):1155–62.PubMed Gong ST, Chao IM. Changes in serum thyroglobulin and thyroid autoantibodies in patients with Graves’ disease treated with antithyroid drug and their relationship to relapse. J Formos Med Assoc. 1991;90(12):1155–62.PubMed

go back to reference Simmonds MJ, Howson JM, Heward JM, et al. Regression mapping of association between the human leukocyte antigen region and Graves disease. Am J Hum Genet. 2005;76(1):157–63.PubMedCrossRef Simmonds MJ, Howson JM, Heward JM, et al. Regression mapping of association between the human leukocyte antigen region and Graves disease. Am J Hum Genet. 2005;76(1):157–63.PubMedCrossRef

go back to reference Chen PL, Shih SR, Wang PW, Lin YC, Chu CC, Lin JH, Chen SC, Chang CC, Huang TS, Tsai KS, Tseng FY, Wang CY, Lu JY, Chiu WY, Chang CC, Chen YH, Chen YT, Fann CS, Yang WS, Chang TC. Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study. Nat Commun. 2015;7(6):7633.CrossRef Chen PL, Shih SR, Wang PW, Lin YC, Chu CC, Lin JH, Chen SC, Chang CC, Huang TS, Tsai KS, Tseng FY, Wang CY, Lu JY, Chiu WY, Chang CC, Chen YH, Chen YT, Fann CS, Yang WS, Chang TC. Genetic determinants of antithyroid drug-induced agranulocytosis by human leukocyte antigen genotyping and genome-wide association study. Nat Commun. 2015;7(6):7633.CrossRef