{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T20:14:56Z","timestamp":1774124096742,"version":"3.50.1"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2004,4,1]],"date-time":"2004-04-01T00:00:00Z","timestamp":1080777600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2004,4,1]],"date-time":"2004-04-01T00:00:00Z","timestamp":1080777600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Immun"],"published-print":{"date-parts":[[2004,6,1]]},"DOI":"10.1038\/sj.gene.6364066","type":"journal-article","created":{"date-parts":[[2004,4,1]],"date-time":"2004-04-01T09:08:59Z","timestamp":1080810539000},"page":"267-273","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["A systematic approach to the assessment of known TNF-\u03b1 polymorphisms in Graves' disease"],"prefix":"10.1038","volume":"5","author":[{"given":"M J","family":"Simmonds","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J M","family":"Heward","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J M M","family":"Howson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Foxall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Nithiyananthan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Franklyn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S C L","family":"Gough","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2004,4,1]]},"reference":[{"key":"BF6364066_CR1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-59259-704-8_6","volume-title":"The Epidemiology of Autoimmune Thyroid Disease","author":"PJ Vanderpump","year":"1999","unstructured":"Vanderpump PJ, Tunbridge WMG . The Epidemiology of Autoimmune Thyroid Disease. Humana Press: New Jersey, 1999."},{"key":"BF6364066_CR2","doi-asserted-by":"publisher","first-page":"735","DOI":"10.1210\/jcem-61-4-735","volume":"61","author":"V Stenszky","year":"1985","unstructured":"Stenszky V, Kozma L, Balazs C, Rochlitz S, Bear JC, Farid NR . The genetics of Graves' disease: HLA and disease susceptibility. J Clin Endocrinol Metab 1985; 61: 735\u2013740.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6364066_CR3","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1111\/j.1365-2265.1995.tb01879.x","volume":"42","author":"AW Kung","year":"1995","unstructured":"Kung AW . Life events, daily stresses and coping in patients with Graves' disease. Clin Endocrinol (Oxf) 1995; 42: 303\u2013308.","journal-title":"Clin Endocrinol (Oxf)"},{"key":"BF6364066_CR4","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1016\/S0889-8529(05)70299-1","volume":"27","author":"B McIver","year":"1998","unstructured":"McIver B, Morris JC . The pathogenesis of Graves' disease. Endocrinol Metab Clin N Am 1998; 27: 73\u201389.","journal-title":"Endocrinol Metab Clin N Am"},{"key":"BF6364066_CR5","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1111\/j.0954-6820.1986.tb03283.x","volume":"219","author":"VV Valtonen","year":"1986","unstructured":"Valtonen VV, Ruutu P, Varis K, Ranki M, Malkamaki M, Makela PH . Serological evidence for the role of bacterial infections in the pathogenesis of thyroid diseases. Acta Med Scand 1986; 219: 105\u2013111.","journal-title":"Acta Med Scand"},{"key":"BF6364066_CR6","first-page":"2112","volume":"80","author":"K Badenhoop","year":"1995","unstructured":"Badenhoop K, Walfish PG, Rau H et al. Susceptibility and resistance alleles of human leukocyte antigen (HLA) DQA1 and HLA DQB1 are shared in endocrine autoimmune disease. J Clin Endocrinol Metab 1995; 80: 2112\u20132117.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6364066_CR7","first-page":"3394","volume":"83","author":"JM Heward","year":"1998","unstructured":"Heward JM, Allahabadia A, Daykin J 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. J Clin Endocrinol Metab 1998; 83: 3394\u20133397.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6364066_CR8","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1038\/nature01621","volume":"423","author":"H Ueda","year":"2003","unstructured":"Ueda H, Howson JM, Esposito L et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003; 423: 506\u2013511.","journal-title":"Nature"},{"key":"BF6364066_CR9","first-page":"1569","volume":"76","author":"T Yanagawa","year":"1993","unstructured":"Yanagawa T, Mangklabruks A, Chang YB et al. Human histocompatibility leukocyte antigen-DQA1*0501 allele associated with genetic susceptibility to Graves' disease in a Caucasian population. J Clin Endocrinol Metab 1993; 76: 1569\u20131574.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6364066_CR10","doi-asserted-by":"publisher","first-page":"1195","DOI":"10.1093\/hmg\/8.7.1195","volume":"8","author":"B Vaidya","year":"1999","unstructured":"Vaidya B, Imrie H, Perros P et al. The cytotoxic T lymphocyte antigen-4 is a major Graves' disease locus. Hum Mol Genet 1999; 8: 1195\u20131199.","journal-title":"Hum Mol Genet"},{"key":"BF6364066_CR11","first-page":"4656","volume":"84","author":"Y Tomer","year":"1999","unstructured":"Tomer Y, Barbesino G, Greenberg DA, Concepcion E, 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\u20134664.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6364066_CR12","doi-asserted-by":"publisher","first-page":"1379","DOI":"10.1093\/hmg\/10.13.1379","volume":"10","author":"K Sakai","year":"2001","unstructured":"Sakai K, Shirasawa S, Ishikawa N et al. Identification of susceptibility loci for autoimmune thyroid disease to 5q31\u2013q33 and Hashimoto's thyroiditis to 8q23\u2013q24 by multipoint affected sib-pair linkage analysis in Japanese. Hum Mol Genet 2001; 10: 1379\u20131386.","journal-title":"Hum Mol Genet"},{"key":"BF6364066_CR13","doi-asserted-by":"publisher","first-page":"6361","DOI":"10.1093\/nar\/13.17.6361","volume":"13","author":"GE Nedwin","year":"1985","unstructured":"Nedwin GE, Naylor SL, Sakaguchi AY et al. Human lymphotoxin and tumor necrosis factor genes: structure, homology and chromosomal localization. Nucleic Acids Res 1985; 13: 6361\u20136373.","journal-title":"Nucleic Acids Res"},{"key":"BF6364066_CR14","first-page":"3","volume":"56","author":"DR Spriggs","year":"1992","unstructured":"Spriggs DR, Deutsch S, Kufe DW . Genomic structure, induction, and production of TNF-alpha. Immunol Ser 1992; 56: 3\u201334.","journal-title":"Immunol Ser"},{"key":"BF6364066_CR15","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1111\/j.1399-0039.1998.tb03056.x","volume":"52","author":"AM Uglialoro","year":"1998","unstructured":"Uglialoro AM, Turbay D, Pesavento PA et al. Identification of three new single nucleotide polymorphisms in the human tumor necrosis factor-alpha gene promoter. Tissue Antigens 1998; 52: 359\u2013367.","journal-title":"Tissue Antigens"},{"key":"BF6364066_CR16","doi-asserted-by":"publisher","first-page":"516","DOI":"10.1093\/rheumatology\/36.5.516","volume":"36","author":"BM Brinkman","year":"1997","unstructured":"Brinkman BM, Huizinga TW, Kurban SS et al. Tumour necrosis factor alpha gene polymorphisms in rheumatoid arthritis: association with susceptibility to, or severity of, disease? Br J Rheumatol 1997; 36: 516\u2013521.","journal-title":"Br J Rheumatol"},{"key":"BF6364066_CR17","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1046\/j.1365-2249.2000.01106.x","volume":"119","author":"E Louis","year":"2000","unstructured":"Louis E, Peeters M, Franchimont D et al. Tumour necrosis factor (TNF) gene polymorphism in Crohn's disease (CD): influence on disease behaviour? Clin Exp Immunol 2000; 119: 64\u201368.","journal-title":"Clin Exp Immunol"},{"key":"BF6364066_CR18","first-page":"90","volume":"25","author":"KY Fong","year":"1996","unstructured":"Fong KY, Howe HS, Tin SK, Boey ML, Feng PH . Polymorphism of the regulatory region of tumour necrosis factor alpha gene in patients with systemic lupus erythematosus. Ann Acad Med Singapore 1996; 25: 90\u201393.","journal-title":"Ann Acad Med Singapore"},{"key":"BF6364066_CR19","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1038\/sj.gene.6364008","volume":"4","author":"HC Ackerman","year":"2003","unstructured":"Ackerman HC, Ribas G, Jallow M et al. Complex haplotypic structure of the central MHC region flanking TNF in a West African population. Genes Immun 2003; 4: 476\u2013486.","journal-title":"Genes Immun"},{"key":"BF6364066_CR20","doi-asserted-by":"publisher","first-page":"1108","DOI":"10.1093\/nar\/22.6.1108","volume":"22","author":"CL Fong","year":"1994","unstructured":"Fong CL, Siddiqui AH, Mark DF . Identification and characterization of a novel repressor site in the human tumor necrosis factor alpha gene. Nucleic Acids Res 1994; 22: 1108\u20131114.","journal-title":"Nucleic Acids Res"},{"key":"BF6364066_CR21","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1006\/cyto.2001.0902","volume":"14","author":"JP Bayley","year":"2001","unstructured":"Bayley JP, de Rooij H, van den Elsen PJ, Huizinga TW, Verweij CL . Functional analysis of linker-scan mutants spanning the \u2212376, \u2212308, \u2212244, and \u2212238 polymorphic sites of the TNF-alpha promoter. Cytokine 2001; 14: 316\u2013323.","journal-title":"Cytokine"},{"key":"BF6364066_CR22","doi-asserted-by":"publisher","first-page":"956","DOI":"10.1007\/BF00180447","volume":"70","author":"BO Boehm","year":"1992","unstructured":"Boehm BO, Kuhnl P, Manfras BJ et al. HLA-DRB3 gene alleles in Caucasian patients with Graves' disease. Clin Invest 1992; 70: 956\u2013960.","journal-title":"Clin Invest"},{"key":"BF6364066_CR23","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1210\/jcem-69-1-100","volume":"69","author":"M Ito","year":"1989","unstructured":"Ito M, Tanimoto M, Kamura H et al. Association of HLA antigen and restriction fragment length polymorphism of T cell receptor beta-chain gene with Graves' disease and Hashimoto's thyroiditis. J Clin Endocrinol Metab 1989; 69: 100\u2013104.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6364066_CR24","doi-asserted-by":"publisher","first-page":"1233","DOI":"10.1073\/pnas.87.3.1233","volume":"87","author":"CO Jacob","year":"1990","unstructured":"Jacob CO, Fronek Z, Lewis GD, Koo M, Hansen JA, McDevitt HO . Heritable major histocompatibility complex class II-associated differences in production of tumor necrosis factor alpha: relevance to genetic predisposition to systemic lupus erythematosus. Proc Natl Acad Sci USA 1990; 87: 1233\u20131237.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BF6364066_CR25","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1038\/nrg1123","volume":"4","author":"JD Wall","year":"2003","unstructured":"Wall JD, Pritchard JK . Haplotype blocks and linkage disequilibrium in the human genome. Nat Rev Genet 2003; 4: 587\u2013597.","journal-title":"Nat Rev Genet"},{"key":"BF6364066_CR26","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0960-9822(02)01404-5","volume":"13","author":"MP Stumpf","year":"2003","unstructured":"Stumpf MP, Goldstein DB . Demography, recombination hotspot intensity, and the block structure of linkage disequilibrium. Curr Biol 2003; 13: 1\u20138.","journal-title":"Curr Biol"},{"key":"BF6364066_CR27","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1038\/ng1100","volume":"33","author":"MS Phillips","year":"2003","unstructured":"Phillips MS, Lawrence R, Sachidanandam R et al. Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nat Genet 2003; 33: 382\u2013387.","journal-title":"Nat Genet"},{"key":"BF6364066_CR28","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1038\/ng1001-229","volume":"29","author":"MJ Daly","year":"2001","unstructured":"Daly MJ, Rioux JD, Schaffner SF, Hudson TJ, Lander ES . High-resolution haplotype structure in the human genome. Nat Genet 2001; 29: 229\u2013232.","journal-title":"Nat Genet"},{"key":"BF6364066_CR29","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1038\/9649","volume":"22","author":"JC Knight","year":"1999","unstructured":"Knight JC, Udalova I, Hill AV et al. A polymorphism that affects OCT-1 binding to the TNF promoter region is associated with severe malaria. Nat Genet 1999; 22: 145\u2013150.","journal-title":"Nat Genet"},{"key":"BF6364066_CR30","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1034\/j.1399-0039.2001.057005397.x","volume":"57","author":"Y Matsuzaka","year":"2001","unstructured":"Matsuzaka Y, Makino S, Nakajima K et al. New polymorphic microsatellite markers in the human MHC class III region. Tissue Antigens 2001; 57: 397\u2013404.","journal-title":"Tissue Antigens"},{"key":"BF6364066_CR31","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1086\/321272","volume":"69","author":"JK Pritchard","year":"2001","unstructured":"Pritchard JK . Are rare variants responsible for susceptibility to complex diseases? Am J Hum Genet 2001; 69: 124\u2013137.","journal-title":"Am J Hum Genet"},{"issue":"8","key":"BF6364066_CR32","doi-asserted-by":"publisher","first-page":"comment2007.1","DOI":"10.1186\/gb-2001-2-8-comment2007","volume":"2","author":"Alan F Wright","year":"2001","unstructured":"Wright AF, Hastie ND . Complex genetic diseases: controversy over the Croesus code. Genome Biol 2001; 2 (COMMENT2007).","journal-title":"Genome Biology"},{"key":"BF6364066_CR33","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1038\/ng749","volume":"29","author":"JP Ioannidis","year":"2001","unstructured":"Ioannidis JP, Ntzani EE, Trikalinos TA, Contopoulos-Ioannidis DG . Replication validity of genetic association studies. Nat Genet 2001; 29: 306\u2013309.","journal-title":"Nat Genet"},{"key":"BF6364066_CR34","doi-asserted-by":"publisher","first-page":"5039","DOI":"10.1210\/jc.2003-030093","volume":"88","author":"JE Collins","year":"2003","unstructured":"Collins JE, Heward JM, Carr-Smith J, Daykin J, Franklyn JA, Gough SC . Association of a rare thyroglobulin gene microsatellite variant with autoimmune thyroid disease. J Clin Endocrinol Metab 2003; 88: 5039\u20135042.","journal-title":"J Clin Endocrinol Metab"},{"key":"BF6364066_CR35","first-page":"485","volume":"44","author":"PA Zimmerman","year":"1996","unstructured":"Zimmerman PA, Guderian RH, Nutman TB . A new TNFA promoter allele identified in South American Blacks. Immunogenetics 1996; 44: 485\u2013486.","journal-title":"Immunogenetics"},{"key":"BF6364066_CR36","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.1093\/hmg\/8.8.1443","volume":"8","author":"T Skoog","year":"1999","unstructured":"Skoog T, van't Hooft FM, Kallin B et al. A common functional polymorphism (C \u2192 A substitution at position \u2212863) in the promoter region of the tumour necrosis factor-alpha (TNF-alpha) gene associated with reduced circulating levels of TNF-alpha. Hum Mol Genet 1999; 8: 1443\u20131449.","journal-title":"Hum Mol Genet"},{"key":"BF6364066_CR37","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1007\/s001250050926","volume":"41","author":"CP Day","year":"1998","unstructured":"Day CP, Grove J, Daly AK, Stewart MW, Avery PJ, Walker M . Tumour necrosis factor-alpha gene promoter polymorphism and decreased insulin resistance. Diabetologia 1998; 41: 430\u2013434.","journal-title":"Diabetologia"},{"key":"BF6364066_CR38","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1038\/sj.gene.6363789","volume":"2","author":"A Richardson","year":"2001","unstructured":"Richardson A, Sisay-Joof F, Ackerman H et al. Nucleotide diversity of the TNF gene region in an African village. Genes Immun 2001; 2: 343\u2013348.","journal-title":"Genes Immun"},{"key":"BF6364066_CR39","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1038\/sj.gene.6363747","volume":"2","author":"EL Kaijzel","year":"2001","unstructured":"Kaijzel EL, Bayley JP, van Krugten MV et al. Allele-specific quantification of tumor necrosis factor alpha (TNF) transcription and the role of promoter polymorphisms in rheumatoid arthritis patients and healthy individuals. Genes Immun 2001; 2: 135\u2013144.","journal-title":"Genes Immun"},{"key":"BF6364066_CR40","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1111\/j.1399-0039.1995.tb03127.x","volume":"46","author":"M Bunce","year":"1995","unstructured":"Bunce M, O'Neill CM, Barnardo MC et al. Phototyping: comprehensive DNA typing for HLA-A, B, C, DRB1, DRB3, DRB4, DRB5 & DQB1 by PCR with 144 primer mixes utilizing sequence-specific primers (PCR-SSP). Tissue Antigens 1995; 46: 355\u2013367.","journal-title":"Tissue Antigens"},{"key":"BF6364066_CR41","first-page":"106","volume-title":"Detection of Immune-associated Genetic Markers of Human Disease","author":"JD Mathews","year":"1984","unstructured":"Mathews JD . Statistical aspects of immunogenetic association with disease. In: Simons MJ, Tait BD (eds). Detection of Immune-associated Genetic Markers of Human Disease. Churchill Livingstone: London, 1984, pp 106\u2013136."},{"key":"BF6364066_CR42","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1038\/nrg777","volume":"3","author":"KG Ardlie","year":"2002","unstructured":"Ardlie KG, Kruglyak L, Seielstad M . Patterns of linkage disequilibrium in the human genome. Nat Rev Genet 2002; 3: 299\u2013309.","journal-title":"Nat Rev Genet"}],"container-title":["Genes & Immunity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/6364066.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/6364066","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/6364066.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,22]],"date-time":"2022-03-22T20:06:49Z","timestamp":1647979609000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/6364066"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,4,1]]},"references-count":42,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,6,1]]}},"alternative-id":["BF6364066"],"URL":"https:\/\/doi.org\/10.1038\/sj.gene.6364066","relation":{},"ISSN":["1466-4879","1476-5470"],"issn-type":[{"value":"1466-4879","type":"print"},{"value":"1476-5470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,4,1]]},"assertion":[{"value":"18 November 2003","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 January 2004","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 January 2004","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 April 2004","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}