Association of Hashimoto's thyroiditis with cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) and inducible co-stimulator (ICOS) genes in a Kuwaiti population

Endocrine

Volumn 43, Issue 3, 2013, Pages 666-677

  Alfadhli, Suad ^a   Almutawa, Qamar ^a   Abbas, Jasem M K ^b   Doi, Suhail A R ^c,d  

^a KUWAIT UNIVERSITY   (Kuwait)

^b AL SABAH HOSPITAL   (Kuwait)

^c UNIVERSITY OF QUEENSLAND   (Australia)

^d PRINCESS ALEXANDRA HOSPITAL   (Australia)

Author keywords

CTLA 4; Genotype; Haplotype; Hypothyroidism; ICOS

Indexed keywords

CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; INDUCIBLE T CELL COSTIMULATOR LIGAND; MESSENGER RNA; THYROXINE;

3' UNTRANSLATED REGION; ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4 GENE; DINUCLEOTIDE REPEAT; ENZYME LINKED IMMUNOSORBENT ASSAY; ETHNIC GROUP; EXON; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HASHIMOTO DISEASE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INDUCIBLE CO STIMULATOR GENE; INTRON; KUWAITI; LIMIT OF DETECTION; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; MULTIPLEX POLYMERASE CHAIN REACTION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA TRANSCRIPTION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84877873626     PISSN: 1355008X     EISSN: 15590100     Source Type: Journal    
DOI: 10.1007/s12020-012-9823-8     Document Type: Article

References (58)

1. T.H. Brix, K.O. Kyvik, L. Hegedus, A population-based study of chronic autoimmune hypothyroidism in Danish twins. J. Clin. Endocrinol. Metab. 85, 536-539 (2000)
2. R.S. Brown, Autoimmune thyroid disease: unlocking a complex puzzle. Curr. Opin. Pediatr. 21, 523-528 (2009)
3. Y. Tomer, A. Huber, The etiology of autoimmune thyroid disease: a story of genes and environment. J. Autoimmun. 32, 231-239 (2009)
4. G. Aust, K. Krohn, N.G. Morgenthaler, S. Schroder, A. Schutz, J. Edelmann, E. Brylla, Graves' disease and Hashimoto's thyroiditis in monozygotic twins: case study as well as transcriptomic and immunohistological analysis of thyroid tissues. Eur. J. Endocrinol. 154, 13-20 (2006)
5. Y. Tomer, Genetic dissection of familial autoimmune thyroid diseases using whole genome screening. Autoimmun. Rev. 1, 198-204 (2002)
6. D. McLeod, D.S. Cooper, The incidence and prevalence of thyroid autoimmunity. Endocrine (2012). doi: 10.1007/s12020-012-9703-22012
7. Y. Ban, D.A. Greenberg, T.F. Davies, E. Jacobson, E. Concepcion, Y. Tomer, Linkage analysis of thyroid antibody production: evidence for shared susceptibility to clinical autoimmune thyroid disease. J. Clin. Endocrinol. Metab. 93, 3589-3596 (2008)
8. Y. Tomer, Y. Ban, E. Concepcion, G. Barbesino, R. Villanueva, D.A. Greenberg, T.F. Davies, 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, 736-747 (2003)
9. P.S. Linsley, Distinct roles for CD28 and cytotoxic T lymphocyte-associated molecule-4 receptors during T cell activation? J. Exp. Med. 182, 289-292 (1995)
10. O.P. Kristiansen, Z.M. Larsen, F. Pociot, CTLA-4 in autoimmune diseases - a general susceptibility gene to autoimmunity? Genes Immun. 1, 170-184 (2000)
11. F.K. Kavvoura, T. Akamizu, T. Awata, Y. Ban, D.A. Chistiakov, I. Frydecka, A. Ghaderi, S.C. Gough, Y. Hiromatsu, R. Ploski, P.W. Wang, Y. Ban, T. Bednarczuk, E.I. Chistiakova, M. Chojm, J.M. Heward, H. Hiratani, S.H. Juo, L. Karabon, S. Katayama, S. Kurihara, R.T. Liu, I. Miyake, G.H. Omrani, E. Pawlak, M. Taniyama, T. Tozaki, J.P. Ioannidis, Cytotoxic T-lymphocyte associated antigen 4 gene polymorphisms and autoimmune thyroid disease: a meta-analysis. J. Clin. Endocrinol. Metab. 92, 3162-3170 (2007)
12. L. Nistico, R. Buzzetti, L.E. Pritchard, B. Van der Auwera, C. Giovannini, E. Bosi, M.T. Larrad, M.S. Rios, C.C. Chow, C.S. Cockram, K. Jacobs, C. Mijovic, S.C. Bain, A.H. Barnett, C.L. Vandewalle, F. Schuit, F.K. Gorus, R. Tosi, P. Pozzilli, J.A. Todd, The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. Hum. Mol. Genet. 5, 1075-1080 (1996)
13. T. Yanagawa, Y. Hidaka, V. Guimaraes, M. Soliman, L.J. DeGroot, CTLA-4 gene polymorphism associated with Graves' disease in a Caucasian population. J. Clin. Endocrinol. Metab. 80, 41-45 (1995)
14. T. Kouki, Y. Sawai, C.A. Gardine, M.E. Fisfalen, M.L. Alegre, L.J. DeGroot, 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, 6606-6611 (2000)
15. A. Ligers, N. Teleshova, T. Masterman, W.X. Huang, J. Hillert, CTLA-4 gene expression is influenced by promoter and exon 1 polymorphisms. Genes Immun. 2, 145-152 (2001)
16. S. Anjos, A. Nguyen, H. Ounissi-Benkalha, M.C. Tessier, C. Polychronakos, 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, 46478-46486 (2002)
17. M. Maurer, S. Loserth, A. Kolb-Maurer, A. Ponath, S. Wiese, N. Kruse, P. Rieckmann, A polymorphism in the human cytotoxic T-lymphocyte antigen 4 (CTLA4) gene (exon 1 +49) alters T-cell activation. Immunogenetics 54, 1-8 (2002)
18. P. Dariavach, M.G. Mattei, P. Golstein, M.P. Lefranc, Human Ig superfamily CTLA-4 gene: chromosomal localization and identity of protein sequence between murine and human CTLA-4 cytoplasmic domains. Eur. J. Immunol. 18, 1901-1905 (1988)
19. S.C. Gough, The genetics of Graves' disease. Endocrinol. Metab. Clin. North Am. 29, 255-266 (2000)
20. K. Harper, C. Balzano, E. Rouvier, M.G. Mattei, M.F. Luciani, P. Golstein, CTLA-4 and CD28 activated lymphocyte molecules are closely related in both mouse and human as to sequence, message expression, gene structure, and chromosomal location. J. Immunol. 147, 1037-1044 (1991)
21. K. Ihara, S. Ahmed, F. Nakao, N. Kinukawa, R. Kuromaru, N. Matsuura, I. Iwata, S. Nagafuchi, H. Kohno, K. Miyako, T. Hara, Association studies of CTLA-4, CD28, and ICOS gene polymorphisms with type 1 diabetes in the Japanese population. Immunogenetics 53, 447-454 (2001)
22. A.J. Coyle, S. Lehar, C. Lloyd, J. Tian, T. Delaney, S. Manning, T. Nguyen, T. Burwell, H. Schneider, J.A. Gonzalo, M. Gosselin, L.R. Owen, C.E. Rudd, J.C. Gutierrez-Ramos, The CD28-related molecule ICOS is required for effective T cell-dependent immune responses. Immunity 13, 95-105 (2000)
23. R.A. Shilling, H.S. Bandukwala, A.I. Sperling, Regulation of T:B cell interactions by the inducible costimulator molecule: does ICOS "induce" disease? Clin. Immunol. 121, 13-18 (2006)
24. F. Rousset, GENEPOP'007: a complete re-implementation of the genepop software for Windows and Linux. Mol. Ecol. Resour. 8, 103-106 (2008)
25. K. Kapila, S.A. Sathar, N.A. Al-Rabah, A. Prahash, M.S. Prahash Seshadri, Chronic lymphocytic (Hashimoto's) thyroiditis in Kuwait diagnosed by fine needle aspirates. Ann. Saudi Med. 15, 363-366 (1995)
26. M.P. Vanderpump, W.M. Tunbridge, J.M. French, The incidence of thyroid disorders in the community: a twenty-year follow-up of the Whickham survey. Clin. Endocrinol. 43, 55-68 (1995)
27. S. Benvenga, F. Trimarchi, Changed presentation of Hashimoto's thyroiditis in North-Eastern Sicily and Calabria (Southern Italy) based on a 31-year experience. Thyroid 18, 429-441 (2008)
28. L.Q. Gu, W. Zhu, S.X. Zhao, L. Zhao, M.J. Zhang, B. Cui, H.D. Song, G. Ning, Y.J. Zhao, Clinical associations of the genetic variants of CTLA-4, Tg, TSHR, PTPN22, PTPN12 and FCRL3 in patients with Graves' disease. Clin. Endocrinol. (Oxf.) 72, 248-255 (2010)
29. N. Jain, H. Nguyen, C. Chambers, J. Kang, Dual function of CTLA-4 in regulatory T cells and conventional T cells to prevent multiorgan autoimmunity. Proc. Natl. Acad. Sci. USA 107, 1524-1528 (2010)
30. M. Fernandez-Mestre, K. Sanchez, O. Balbas, K. Gendzekhzadze, V. Ogando, M. Cabrera, Z. Layrisse, Influence of CTLA-4 gene polymorphism in autoimmune and infectious diseases. Hum. Immunol. 70, 532-535 (2009)
31. K. Kotsa, P.F. Watson, A.P. Weetman, A CTLA-4 gene polymorphism is associated with both Graves disease and autoimmune hypothyroidism. Clin. Endocrinol. (Oxf.) 46, 551-554 (1997)
32. T. Awata, S. Kurihara, M. Iitaka, S. Takei, I. Inoue, C. Ishii, K. Negishi, T. Izumida, Y. Yoshida, R. Hagura, N. Kuzuya, Y. Kanazawa, S. Katayama, Association of CTLA-4 gene A-G polymorphism (IDDM12 locus) with acute-onset and insulin-depleted IDDM as well as autoimmune thyroid disease (Graves' disease and Hashimoto's thyroiditis) in the Japanese population. Diabetes 47, 128-129 (1998)
33. A. Petrone, G. Giorgi, C.A. Mesturino, M. Capizzi, I. Cascino, L. Nistico, J. Osborn, U. Di Mario, R. Buzzetti, 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, 171-175 (2001)
34. K. Benhatchi, I. Jochmanová, V. Habalová, H. Wagnerová, I. Lazúrová, CTLA4 exon1 A49G polymorphism in Slovak patients with rheumatoid arthritis and Hashimoto thyroiditis - results and the review of the literature. Clin. Rheumatol. 30, 1319-1324 (2011)
35. M. Sahin, A. Gursoy, M.F. Erdogan, Cytotoxic T lymphocyte-associated molecule-4 polymorphism in Turkish patients with Hashimoto thyroiditis. Int. J. Immunogenet. 36, 103-106 (2009)
36. T. Tomoyose, I. Komiya, M. Takara, K. Yabiku, Y. Kinjo, Y. Shimajiri, H. Yogi, T. Kouki, M. Masuda, N. Takasu, 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, 673-677 (2002)
37. Y.J. Park, H.K. Chung, D.J. Park, W.B. Kim, S.W. Sim, J.J. Koh, B.Y. Cho, Polymorphism in the promoter and exon 1 of the cytotoxic T lymphocyte antigen-4 gene associated with autoimmune thyroid disease in Koreans. Thyroid 10, 453-459 (2000)
38. C. Farra, J. Awwad, A. Fadlallah, G. Sebaly, G. Hage, M. Souaid, H. Ashkar, R. Medlej, M.H. Gannageh, G. Halaby, Genetics of autoimmune thyroid disease in the Lebanese population. J. Community Genet. 3, 259-264 (2012)
39. B. Conne, A. Stutz, J.D. Vassalli, The 3′ untranslated region of messenger RNA: a molecular 'hotspot' for pathology? Nat. Med. 6, 637-641 (2000)
40. S. Kuersten, E.B. Goodwin, The power of the 3′UTR: translational control and development. Nat. Rev. Genet. 4, 626-637 (2003)
41. X.B. Wang, M. Kakoulidou, R. Giscombe, Q. Qiu, D. Huang, R. Pirskanen, A.K. Lefvert, Abnormal expression of CTLA-4 by T cells from patients with myasthenia gravis: effect of an AT-rich gene sequence. J. Neuroimmunol. 130, 224-232 (2002)
42. S.M. Anjos, C. Polychronakos, Functional evaluation of the autoimmunity-associated CTLA4 gene: the effect of the (AT) repeat in the 3′ untranslated region (UTR). J. Autoimmun. 27, 105-109 (2006)
43. R.M. Lowe, J. Graham, G. Sund, I. Kockum, M. Landin-Olsson, J.B. Schaefer, C. Torn, A. Lernmark, G. Dahlquist, The length of the CTLA-4 microsatellite (AT)N-repeat affects the risk for type 1 diabetes. Diabetes Incidence in Sweden Study Group. Autoimmunity 32, 173-180 (2000)
44. M. Barreto, E. Santos, R. Ferreira, C. Fesel, M.F. Fontes, C. Pereira, B. Martins, R. Andreia, J.F. Viana, F. Crespo, C. Vasconcelos, C. Ferreira, A.M. Vicente, Evidence for CTLA4 as a susceptibility gene for systemic lupus erythematosus. Eur. J. Hum. Genet. 12, 620-626 (2004)
45. K. Kotsa, P.F. Watson, A.P. Weetman, A CTLA-4 gene polymorphism is associated with both Graves' disease and autoimmune hypothyroidism. Clin. Endocrinol. 46, 551-554 (1997)
46. T. Akamizu, M.M. Sale, S.S. Rich, H. Hiratani, J.Y. Noh, N. Kanamoto, M. Saijo, Y. Miyamoto, Y. Saito, K. Nakao, D.W. Bowden, Association of autoimmune thyroid disease with microsatellite markers for the thyrotropin receptor gene and CTLA-4 in Japanese patients. Thyroid 10, 851-858 (2000)
47. M.M. Sale, T. Akamizu, T.D. Howard, T. Yokota, K. Nakao, T. Mori, H. Iwasaki, S.S. Rich, J.E. Jennings-Gee, M. Yamada, D.W. Bowden, 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, 453-461 (1997)
48. K. Zaletel, B. Krhin, S. Gaberscek, S. Hojker, Thyroid autoantibody production is influenced by exon 1 and promoter CTLA-4 polymorphisms in patients with Hashimoto's thyroiditis. Int. J. Immunogenet. 33, 87-91 (2006)
49. S. Ahmed, K. Ihara, S. Kanemitsu, H. Nakashima, T. Otsuka, K. Tsuzaka, T. Takeuchi, T. Hara, Association of CTLA-4 but not CD28 gene polymorphisms with systemic lupus erythematosus in the Japanese population. Rheumatology (Oxf.) 40, 662-667 (2001)
50. Y. Ban, T.F. Davies, D.A. Greenberg, A. Kissin, B. Marder, B. Murphy, E.S. Concepcion, R.B. Villanueva, G. Barbesino, V. Ling, Y. Tomer, Analysis of the CTLA-4, CD28, and inducible costimulator (ICOS) genes in autoimmune thyroid disease. Genes Immun. 4, 586-593 (2003)
51. K. Douroudis, A.P. Laine, M. Heineken, R. Hermann, K. Lipponen, R. Veijola, O. Simell, M. Knip, R. Uibo, J. Ilonen, K. Kisand, Association of CTLA4 but not ICOS polymorphisms with type 1 diabetes in two populations with different disease rates. Hum. Immunol. 70, 536-539 (2009)
52. H. Donner, J. Braun, C. Seidl, H. Rau, R. Finke, M. Ventz, P.G. Walfish, K.H. Usadel, K. Badenhoop, Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease. J. Clin. Endocrinol. Metab. 82, 4130-4132 (1997)
53. G. Barbesino, Y. Tomer, E. Concepcion, T.F. Davies, D.A. Greenberg, Linkage analysis of candidate genes in autoimmune thyroid disease: selected immunoregulatory genes. International Consortium for the Genetics of Autoimmune Thyroid Disease. J. Clin. Endocrinol. Metab. 83, 1580-1584 (1998)
54. R. Nithiyananthan, J.M. Heward, A. Allahabadia, J.A. Franklyn, S.C. Gough, Polymorphism of the CTLA-4 gene is associated with autoimmune hypothyroidism in the United Kingdom. Thyroid 12, 3-6 (2002)
55. D. Pastuszak-Lewandoska, E. Sewerynek, D. Domańska, A. GładyÅ, R. Skrzypczak, E. Brzeziańska, CTLA-4 gene polymorphisms and their influence on predisposition to autoimmune thyroid diseases (Graves' disease and Hashimoto's thyroiditis). Arch. Med. Sci. 8, 415-421 (2012)
56. E. Yeşilkaya, A. Koç, A. Bideci, O. Camurdan, M. Boyraz, O. Erkal, M.A. Ergun, P. Cinaz, CTLA4 gene polymorphisms in children and adolescents with autoimmune thyroid diseases. Genet. Test. 12, 461-464 (2008)
57. Y. Tomer, G. Barbesino, D.A. Greenberg, E. Concepcion, T.F. Davies, Mapping the major susceptibility loci for familial Graves' and Hashimoto's diseases: evidence for genetic heterogeneity and gene interactions. J. Clin. Endocrinol. Metab. 84, 4656-4664 (1999)
58. J. Yang, Q. Qin, N. Yan, Y.F. Zhu, C. Li, X.J. Yang, X. Wang, M. Pandey, P. Hou, J.A. Zhang, CD40 C/T-1 and CTLA-4 A/G49 SNPs are associated with autoimmune thyroid diseases in the Chinese population. Endocrine 41, 111-115 (2012)