Interleukin-12B gene polymorphism does not confer susceptibility to graves' ophthalmopathy in Japanese population

Endocrine Journal

Volumn 53, Issue 6, 2006, Pages 753-759

  Hiromatsu, Yuji ^a   Fukutani, Tomoka ^a   Ichimura, Michiko ^a   Mukai, Tokunori ^a   Kaku, Hiroo ^a   Miyake, Ikuyo ^a   Yamada, Kentaro ^a  

^a KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Graves' disease; Graves' ophthalmopathy; IL 12; Polymorphism

Indexed keywords

IMMUNOGLOBULIN E; INTERLEUKIN 12; INTERLEUKIN 12B; THYROID ANTIBODY; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DISEASE SEVERITY; DNA POLYMORPHISM; ENDOCRINE OPHTHALMOPATHY; FEMALE; GENOTYPE; GRAVES DISEASE; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; JAPANESE; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PROTEIN BLOOD LEVEL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GRAVES DISEASE; GRAVES OPHTHALMOPATHY; HUMANS; INTERLEUKIN-12 SUBUNIT P40; LINKAGE (GENETICS); MALE; MIDDLE AGED; POLYMORPHISM, GENETIC;

EID: 33845986371     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K06-040     Document Type: Article

References (39)

1. Weetman AP (2000) Graves' disease. N Engl J Med 26: 1236-1248.
2. Bartalena L, Pinchera A, Marcocci C (2000) Management of Graves' ophthalmopathy: reality and perspectives. Endocr Rev 21: 168-199.
3. Ban Y, Tomer Y (2005) Susceptibility genes in thyroid autoimmunity. Clin Dev Immunol 212: 47-58.
4. Simmonds MJ, Gough SC (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clin Exp Immunol 136: 1-10.
5. Vaidya B, Imrie H, Perros P, Dickinson J, McCarthy MI, Kendall-Taylor P, Pearce SH (1999) Cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism confers susceptibility to thyroid associated orbitopathy. Lancet 354: 743-744.
6. Bednarczuk T, Hiromatsu Y, Fukutani T, Jazdzewski K, Miskiewicz P, Osikowska M, Nauman J (2003) Association of cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) gene polymorphism and nongenetic factors with Graves' ophthalmopathy in European and Japanese populations. Eur J Endocrinol 148: 13-18.
7. Hiratani H, Bowden DW, Ikegami S, Shirasawa S, Shimizu A, Iwatani Y, Akamizu T (2005) Multiple SNPs in intron 7 of thyrotropin receptor are associated with Graves' disease. J Clin Endocrinol Metab 90: 2898-2903.
8. Velaga MR, Wilson V, Jennings CE, Owen CJ, Herington S, Donaldson PT, Ball SG, James RA, Quinton R, Perros P, Pearce SH (2004) The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 89: 5862-5865.
9. Tomer Y, Concepcion E, Greenberg DA (2002) A C/T single-nucleotide polymorphism in the region of the CD40 gene is associated with Graves' disease. Thyroid 12: 1129-1135.
10. Mukai T, Hiromatsu Y, Fukutani T, Ichimura M, Kaku H, Miyake I, Yamada K (2005) 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: 471-477.
11. Fukutani T, Hiromatsu Y, Kaku H, Miyake I, Mukai T, Imamura Y, Kohno S, Takane N, Shoji S, Otabe S, Yamada K (2004) A polymorphism of interferon gamma gene associated with changes of anti-TSH receptor antibodies induced by anti-thyroid drug treatment for Graves' disease in Japanese. Thyroid 14: 93-97.
12. Kamizono S, Hiromatsu Y, Seki N, Bednarczuk T, Matsumoto H, Kimura A, Itoh K (2000) A polymorphism of the 5′ flanking region of tumour necrosis factor alpha gene is associated with thyroid-associated ophthalmopathy in Japanese. Clin Endocrinol (Oxf) 52: 759-764.
13. Bednarczuk T, Hiromatsu Y, Seki N, Ploski R, Fukutani T, Kurylowicz A, Jazdzewski K, Chojnowski K, Itoh K, Nauman J (2004) Association of tumor necrosis factor and human leukocyte antigen DRB1 alleles with Graves' ophthalmopathy. Hum Immunol 65: 632-639.
14. Hiromatsu Y, Fukutani T, Ichimura M, Mukai T, Kaku H, Nakayama H, Miyake I, Shoji S, Koda Y, Bednarczuk T (2005) Interleukin-13 gene polymorphisms confer the susceptibility of Japanese populations to Graves' disease. J Clin Endocrinol Metab 90: 296-301.
15. Sakai K, Shirasawa S, Ishikawa N, Ito K, Tamai H, Kuma K, Akamizu T, Tanimura M, Furugaki K, Yamamoto K, Sasazuki T (2001) 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: 1379-1386.
16. Jin Y, Teng W, Ben S, Xiong X, Zhang J, Xu S, Shugart YY, Jin L, Chen J, Huang W (2003) Genomewide scan of Graves' disease: evidence for linkage on chromosome 5q31 in Chinese Han pedigrees. J Clin Endocrinol Metab 88: 1798-1803.
17. Lonjou C, Barnes K, Chen H, Cookson WO, Deichmann KA, Hall IP, Holloway JW, Laitinen T, Palmer LJ, Wjst M, Morton NE (2000) A first trial of retrospective collaboration for positional cloning in complex inheritance: assay of the cytokine region on chromosome 5 by the consortium on asthma genetics (COAG). Proc Natl Acad Sci USA 97: 10942-10947.
18. Soderhall C, Bradley M, Kockum I, Wahlgren CF, Luthman H, Nordenskjold M (2001) Linkage and association to candidate regions in Swedish atopic dermatitis families. Hum Genet 109: 129-135.
19. Xu J, Postma DS, Howard TD, Koppelman GH, Zheng SL, Stine OC, Bleecker ER, Meyers DA (2000) Major genes regulating total serum immunoglobulin E levels in families with asthma. Am J Hum Genet 67: 1163-1173.
20. Gately MK, Renzetti LM, Magram J, Stern AS, Adorini L, Gubler U, Presky DH (1998) The interleukin-12/interleukin-12-receptor system: role in normal and pathologic immune responses. Annu Rev Immunol 16: 495-521.
21. Hidaka Y, Okumura M, Fukata S, Shimaoka Y, Takeoka K, Tada H, Kuma K, Amino N (1999) Increased serum concentration of interleukin-12 in patients with silent thyroiditis and Graves' disease. Thyroid 9: 149-153.
22. Tamaru M, Matsuura B, Onji M (1999) Increased levels of serum interleukin-12 in Graves' disease. Eur J Endocrinol 141: 111-116.
23. Murakami S, Okubo K, Tsuji Y, Sakata H, Kikuchi M, Takahashi T, Kato T, Hirayama R (2005) Serum levels of interleukin-12 in Graves' disease and their dynamic changes after surgery. Surg Today 35: 1016-1020.
24. Ajjan RA, Watson PF, Weetman AP (1997) Detection of IL-12, IL-13, and IL-15 messenger ribonucleic acid in the thyroid of patients with autoimmune thyroid disease. J Clin Endocrinol Metab 82: 666-669.
25. Wakelkamp IM, Bakker O, Baldeschi L, Wiersinga WM, Prummel MF (2003) TSH-R expression and cytokine profile in orbital tissue of active vs. inactive Graves' ophthalmopathy patients. Clin Endocrinol (Oxf) 58: 280-287.
26. Pappa A, Calder V, Ajjan R, Fells P, Ludgate M, Weetman AP, Lightman S (1997) Analysis of extraocular muscle-infiltrating T cells in thyroid-associated ophthalmopathy (TAO). Clin Exp Immunol 109: 362-369.
27. Huang D, Cancilla MR, Morahan G (2000) Complete primary structure, chromosomal localisation, and definition of polymorphisms of the gene encoding the human interleukin-12 p40 subunit. Genes Immun 1: 515-520.
28. Morahan G, Huang D, Ymer SI, Cancilla MR, Stephen K, Dabadghao P, Werther G, Tait BD, Harrison LC, Colman PG (2001) Linkage disequilibrium of a type 1 diabetes susceptibility locus with a regulatory IL-12B allele. Nat Genet 27: 218-221. Erratum in: Nat Genet 27: 346.
29. Yilmaz V, Yentur SP, Saruhan-Direskeneli G (2005) IL-12 and IL-10 polymorphisms and their effects on cytokine production. Cytokine 30: 188-194.
30. McCormack RM, Maxwell AP, Carson DJ, Patterson CC, Middleton D, Savage DA (2002) The IL-12B 3′ untranslated region DNA polymorphism is not associated with early-onset type 1 diabetes. Genes Immun 3: 433-435.
31. Windsor L, Morahan G, Huang D, McCann V, Jones T, James I, Christiansen FT, Price P (2004) Alleles of the IL-12B 3′UTR associate with late onset of type 1 diabetes. Hum Immunol 65: 1432-1436.
32. Johansson S, Lie BA, Thorsby E, Undlien DE (2001) The polymorphism in the 3′ untranslated region of IL12B has a negligible effect on the susceptibility to develop type 1 diabetes in Norway. Immunogenetics 53: 603-605.
33. Dahlman I, Eaves IA, Kosoy R, Morrison VA, Heward J, Gough SCL, Allahabadia A, Franklyn JA, Tuomilehto J, Tuomilehto-Wolf E, Cucca F, Guja C, Ionescu-Tirgoviste C, Stevens H, Carr P, Nutland S, McKinney P, Shield JP, Wang W, Cordell HJ, Walker N, Todd JA, Concannon P (2002) Parameters for reliable results in genetic association studies in common disease. Nat Genet 30: 149-150.
34. Bergholdt R, Ghandil P, Johannesen J, Kristiansen OP, Kockum I, Luthman H, Ronningen KS, Nerup J, Julier C, Pociot F (2004) Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes. J Med Genet 41: e39.
35. Randolph AG, Lange C, Silverman EK, Lazarus R, Silverman ES, Raby B, Brown A, Ozonoff A, Richter B, Weiss ST (2004) The IL-12B gene is associated with asthma. Am J Hum Genet 75: 709-715.
36. Yin LM, Zhu WF, Wei L, Xu XY, Sun DG, Wang YB, Fan WM, Yu M, Tian XL, Wang QX, Gao Y, Zhuang H (2004) Association of interleukin-12 p40 gene 3′-untranslated region polymorphism and outcome of HCV infection. World J Gastroenterol 10: 2330-2333.
37. Werner SC (1977) Modification of the classification of the eye changes of Graves' disease: recommendation of the Ad Hoc Committee of the American Thyroid Association. J Clin Endocrinol Metab 44: 203-204.
38. Kimura H, Tzou SC, Rocchi R, Kimura M, Suzuki K, Parlow AF, Rose NR, Caturegli P (2005) Interleukin (IL)-12-driven primary hypothyroidism: the contrasting roles of two Th1 cytokines (IL-12 and interferon-gamma). Endocrinology 146: 3642-3651.
39. Ikeda Y, Yoshida W, Noguchi T, Asaba K, Nishioka T, Takao T, Hashimoto K (2004) Lack of association between IL-12B gene polymorphism and autoimmune thyroid disease in Japanese patients. Endocr J 51: 609-613.