Association between the polymorphism A/G at position 49 of exon 1 of the CTLA-4 gene and antithyroid antibody production in children with hashimoto's thyroiditis

Hormone Research in Paediatrics

Volumn 78, Issue 2, 2012, Pages 67-72

  Kucharska, Anna M ^a   Wisniewska, Alicja ^a   Popko, Katarzyna ^a   Demkow, Urszula ^a  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

Antithyroid antibodies; Children; CTLA 4 gene polymorphism

Indexed keywords

THYROID ANTIBODY;

ADOLESCENT; ANTIBODY PRODUCTION; ANTIBODY TITER; AUTOIMMUNE DISEASE; CHILD; CLINICAL ARTICLE; CONFERENCE PAPER; CONTROLLED STUDY; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4 A GENE; DNA POLYMORPHISM; EUTHYROIDISM; EXON; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENOTYPE; HASHIMOTO DISEASE; HUMAN; MALE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ANTIBODY FORMATION; AUTOANTIBODIES; CHILD; CTLA-4 ANTIGEN; EXONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HASHIMOTO DISEASE; HUMANS; MALE; POLAND; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 84865307659     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000338997     Document Type: Conference Paper

References (35)

1. Szyper-Kravitz M, Marai I, Shoenfeld Y: Coexistence of thyroid autoimmunity with other autoimmune diseases: friend or foe? Additional aspects on the mosaic of autoimmunity. Autoimmunity 2005; 38: 247-255.
2. Zaletel K: Determinants of thyroid autoantibody production in Hashimoto's thyroiditis. Expert Rev Clin Immunol 2007; 3: 217-223.
3. Hall R, Owen S, Smart G: Evidence for a genetic predisposition to formation of thyroid autoantibodies. Lancet 1960;ii:187-188.
4. Hall R, Stanbury J: Familial studies of autoimmune thyroiditis. Clin Exp Immunol 1967; 2: 719-725.
5. Aho K, Gordin A, Sievers K, Takala J: Thyroid autoimmunity in siblings: a population study. Acta Endocrinol 1983; 251(suppl): 11-15.
6. Phillips D, McLachlan S, Stephenson A, Roberts D, Moffitt S, McDonald D, Ad'Hiah A, Stratton A, Young E, Clark F, Beever K, Bradbury K, Rees-Smith B: Autosomal dominant transmission of autoantibodies to thyroglobulin and thyroid peroxidase. J Clin Endocrinol Metab 1990; 70: 742-746.
7. Phillips D, Prentice L, McLachlan S, Upadhyaya M, Lunt P, Rees Smith B: Autosomal inheritance of the tendency to develop thyroid autoantibodies. Exp Clin Endocrinol 1991; 97: 170-172.
8. Tomer Y, Davies T: Searching for the autoimmune thyroid disease susceptibility genes: from gene mapping to gene function. Endocr Rev 2003; 24: 694-717.
9. Tomer Y, Greenberg D, Barbesino G, Conception E, Davies T: CTLA-4 and not CD28 is a susceptibility gene for thyroid autoantibody production. J Clin Endocrinol Metab 2001; 86: 1687-1693.
10. Tomer Y, Ban Y, Concepcion E, Barbesino G, Villanueva R, Greenberg D, Davies T: Common and unique susceptibility loci in Graves' and Hashimoto diseases, results of wholegenome screening in a dataset of 102 multiplex families. Am J Hum Genet 2003; 73: 736-747.
11. Ban Y, Tozaki T, Taniyama M, Tomita M, Ban Y: Association of a CTLA-4 3 - untranslated region (CT60) single nucleotide polymorphism with autoimmune thyroid disease in the Japanese population. Autoimmunity 2005; 38: 151-153.
12. Zaletel K, Krhin B, Gaberscek S, Pirnat E, Hojker S: The influence of the exon 1 polymorphism of the cytotoxic T lymphocyte antigen-gene on thyroid antibody production in patients with newly diagnosed Graves' disease. Thyroid 2002; 12: 373-376.
13. Zaletel K, Krhin B, Gaberscek S, Hojker S: Thyroid autoantibody production is influenced by exon 1 and promoter CTLA-4 polymorphisms in patients with Hashimoto's thyroiditis. Int J Immunogenet 2006; 33: 87-91.
14. Sahin M, Gursoy A, Erdogan M: Cytotoxic T lymphocyte-associated molecule-4 polymorphism in Turkish patients with Hashimoto thyroiditis. Int J Immunogenet 2009; 36: 103-106.
15. Harper K, Balzano C, Rouvier E, Mattei M, Luciani M, Goldstein P: 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 1991; 147: 1037-1044.
16. Kucharska A, Wisniewska A, Rymkiewicz-Kluczynska B: The frequency of CTLA-4 gene polymorphism at position 49 exon 1 in children with Hashimoto's thyroiditis (in Polish). Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw 2006; 12: 163-166.
17. Kolar P, Knieke K, Hegel K, Quandt D, Burmester G, Hoff H, Brunner-Weinzierl M: CTLA-4 (CD152) controls homeostasis and suppressive capacity of regulatory T cells in mice. Arthritis Rheum 2009; 60: 123-132.
18. De Somer L, Fevery S, Bullens D, Rutgeerts O, Lenaerts C, Mathieu CH, Boon L, Kasran A, Waer M, Billiau A: Murine bone marrow chimeras developing autoimmunity after CTLA-4 blockade show an expansion of Tregulatory cells with an activated cytokine profile. Immunol Lett 2010; 133: 49-53.
19. Waterhouse P, Penninger J, Timms E, Wakeham A, Shahinian A, et al: Lymphoproliferative disorders with early lethality in mice deficient in CTLA-4. Science 1995; 270: 985-988.
20. Tivol E, Borriello F, Schweitzer A, Lynch W, Bluestone J, Sharpe A: Loss of CTLA-4 leads to massive lymphoproliferation and fatal multiorgan tissue destruction, revealing a critical negative regulatory role of CTLA-4. Immunity 1995; 3: 541-547.
21. Dariavach P, Mattei M, Golstein P, Lefranc M: Human Ig superfamily CTLA-4 gene: chromosomal localization and identity of protein sequence between murine and human CTLA-4 cytoplasmic domains. Eur J Immunol 1988; 18: 1901-1905.
22. Ueda H, Howson J, Esposito L, Heward J, et al: Association of the T-cell regulatory gene CTLA-4 with susceptibility to autoimmune disease. Nature 2003; 423: 506-511.
23. Kavvoura F, Akamizu T, Awata T, Ban Y, et al: Cytotoxic T-lymphocyte-associated antigen gene polymorphisms and autoimmune thyroid disease: a meta-analysis. J Clin Endocrinol Metab 2007; 92: 3162-3170.
24. Kouki T, Sawai Y, Gardine C, Fisfalen M, Alegre M, DeGroot L: 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 2001; 165: 6606-6611.
25. St?ch?y T, Kula D, Steinhof K, Jurecka-Lubieniecka B: TNF and CTLA-4 genes in Hashimoto disease (in Polish). Endokrynol Pol 2005; 1: 96-98.
26. Kula D, Bednarczuk T, Jurecka-Lubieniecka B, Pola?ska J, et al: Interaction of HLADRB1 alleles with CTLA-4 in the predisposition to Graves' disease: the impact of DRB1 07. Thyroid 2006; 16: 447-453.
27. Stafford EA, Rose NR: Newer insights into the pathogenesis of experimental autoimmune thyroiditis. Int Rev Immunol 2000; 19: 501-533.
28. Jacobson E, Tomer Y: The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: back to the future. J Autoimmun 2007; 28: 85-98.
29. Weetman AP, McGregor AM: Autoimmune thyroid disease: further developments in our understanding. Endocr Rev 1994; 15: 788-830.
30. McLachlan S, McGregor A, Smith B, Hall R: Thyroid-autoantibody synthesis by Hashimoto thyroid lymphocytes. Lancet 1979; 1: 162-163.
31. McLachlan S, Pegg C, Atherton M, Middleton S, et al: Subpopulations of thyroid autoantibody secreting lymphocytes in Graves' and Hashimoto thyroid glands. Clin Exp Immunol 1986; 65: 319-328.
32. Radetti G, Gottardi E, Bona G, Corrias A, Salardi S, Loche S, and Study Group for Thyroid Diseases of the Italian Society for Pediatric Endocrinology and Diabetes (SIED/ISPED): The natural history of euthyroid Hashimoto's thyroiditis in children. J Pediatr 2006; 149: 827-832.
33. Rodien P, Madec A, Ruf J, Rajas F, Bornet H, Carayon P, Orgiazzi J: Antibody-dependent cell-mediated cytotoxicity in autoimmune thyroid disease: relationship to antithyroperoxidase antibodies. J Clin Endocrinol Metab 1996; 81: 2595-2600.
34. Yoshida H, Amino N, Yagawa K, Uemura K, Satoh M, Miyai K, Kumahara Y: Association of serum antithyroid antibodies with lymphocytic infiltration of the thyroid gland: studies of seventy autopsied cases. J Clin Endocrinol Metab 1978; 46: 859-862.
35. Mazziotti G, Premawardhana L, Parkes A, Adams H, et al: Evolution of thyroid autoimmunity during iodine prophylaxis -the Sri Lankan experience. Eur J Endocrinol 2003; 149: 103-110.