CD40 C/T-1 and CTLA-4 A/G49 SNPs are associated with autoimmune thyroid diseases in the Chinese population

Endocrine

Volumn 41, Issue 1, 2012, Pages 111-115

  Yang, Jing ^a   Qin, Qiu ^a   Yan, Ni ^a   Zhu, Yuan Feng ^a   Li, Cui ^a   Yang, Xiang Ju ^a   Wang, Xuan ^a   Pandey, Madhu ^a   Hou, Peng ^a   Zhang, Jin An ^a  

^a XI'AN JIAOTONG UNIVERSITY   (China)

Author keywords

CD40; CTLA 4; Graves' disease; Hashimoto's thyroiditis; Single nucleotide polymorphisms (SNPs)

Indexed keywords

CD40 ANTIGEN; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; GENOMIC DNA; LEVOTHYROXINE; THIAMAZOLE; THYROGLOBULIN ANTIBODY; THYROID PEROXIDASE ANTIBODY;

ADOLESCENT; ADULT; AGED; ARTICLE; CD40 GENE; CHILD; CHINESE; CONTROLLED STUDY; CTLA4 GENE; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; GRAVES DISEASE; HASHIMOTO DISEASE; HUMAN; HYPERTHYROIDISM; HYPOTHYROIDISM; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84862701409     PISSN: 1355008X     EISSN: 15590100     Source Type: Journal    
DOI: 10.1007/s12020-011-9510-1     Document Type: Article

References (28)

1. E.M. Jacobson, Y. Tomer, The CD40, CTLA-4, thyroglobulin, TSH receptor, and PTPN22 gene quintet and its contribution to thyroid autoimmunity: back to the future. J. Autoimmun. 28, 85-98 (2007) (Pubitemid 46670687)
2. A. Kurylowicz, D. Kula, R. Ploski, A. Skorka, B. Jurecka- Lubieniecka, J. Zebracka, K. Steinhof-Radwanska, K. Hasse- Lazar, Y. Hiromatsu, B. Jarzab, T. Bednarczuk, Association of CD40 gene polymorphism (C-1T) with susceptibility and phenotype of Graves' disease. Thyroid 15, 1119-1124 (2005) (Pubitemid 41720717)
3. T. Mukai, Y. Hiromatsu, T. Fukutani, M. Ichimura, H. Kaku, I. Miyake, K. Yamada, A C/T polymorphism in the 50 untranslated region of the CD40 gene is associated with later onset of Graves' disease in Japanese. Endocr. J. 52, 471-477 (2005) (Pubitemid 41380558)
4. J.Y. Hsiao, K.J. Tien, C.T. Hsiao, M.C. Hsieh, A C/T polymorphism in CD40 gene is not associated with susceptibility and phenotype of Graves' disease in Taiwanese. Endocr. J. 55, 477-484 (2008)
5. T. Yanagawa, M. Taniyama, S. Enomoto, K. Gomi, H. Maruyama, Y. Ban, T. Saruta,CTLA4 gene polymorphism confers susceptibility to Graves' disease in Japanese. Thyroid 7, 843-846 (1997) (Pubitemid 28041657)
6. 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)
7. Y.J. Park, H.K. Chung, D.J. Park, W.B. Kim, S.W. Kim, 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) (Pubitemid 30437145)
8. E. Yung, P.S. Cheng, T.F. Fok, G.W. Wong, CTLA-4 gene A-G polymorphism and childhood Graves' disease. Clin. Endocrinol. (Oxf) 56, 649-653 (2002) (Pubitemid 34595734)
9. S.X. Zhao, C.M. Pan, H.M. Cao, B. Han, J.Y. Shi, J. Liang, G.Q. Gao, Y.D. Peng, Q. Su, J.L. Chen, J.J. Zhao, H.D. Song, Association of the CTLA4 gene with Graves' disease in the Chinese Han Population. PLoS One 5, e9821 (2010)
10. M. Maierhaba, J.A. Zhang, Z.Y. Yu, Y. Wang, W.X. Xiao, Y. Quan, B.N. Dong, Association of the thyroglobulin gene polymorphism with autoimmune thyroid disease in Chinese population. Endocrine 33, 294-299 (2008)
11. A.K. Huber, E.M. Jacobson, K. Jazdzewski, E.S. Concepcion, Y. Tomer, Interleukin (IL)-23 receptor is a major susceptibility gene for Graves' ophthalmopathy: the IL-23/T-helper 17 axis extends to thyroid autoimmunity. J. Clin. Endocrinol. Metab. 93, 1077-1081 (2008) (Pubitemid 351398595)
12. Y. Tomer, E. Concepcion, D.A. Greenberg, A C/T singlenucleotide polymorphism in the region of the CD40 gene is associated with Graves' disease. Thyroid 12, 1129-1135 (2002) (Pubitemid 36114821)
13. E.A. Clark, J.A. Ledbetter, Activation of human B-cells mediated through two distinct cell surface differentiation antigens, Bp35 and Bp50. Proc. Natl. Acad. Sci. USA 83, 4494-4498 (1986) (Pubitemid 16057075)
14. E.M. Jacobson, E. Concepcion, T. Oashi, Y. Tomer, A Graves' disease-associated Kozak sequence single-nucleotide polymorphism enhances the efficiency of CD40 gene translation: a case for translational pathophysiology. Endocrinology 146, 2684-2691 (2005) (Pubitemid 40695571)
15. S.D. Katzman, E. Gallo, K.K. Hoyer, A.K. Abbas, Differential requirements for Th1 and Th17 responses to a systemic selfantigen. J. Immunol. 186, 4668-4673 (2011)
16. T.J. Smith, D. Sciaky, R.P. Phipps, T.A. Jennings, CD40 expression in human thyroid tissue: evidence for involvement of multiple cell types in autoimmune and neoplastic diseases. Thyroid 9, 749-755 (1999)
17. T.Y. Kim, Y.J. Park, J.K. Hwang, J.Y. Song, K.S. Park, B.Y. Cho, D.J. Park, A C/T polymorphism in the 5′-untranslated region of the CD40 gene is associated with Graves' disease in Koreans. Thyroid 13, 919-925 (2003) (Pubitemid 37351874)
18. Y. Ban, T. Tozaki, M. Taniyama, M. Tomita, Y. Ban, Association of a C/T single-nucleotide polymorphism in the 50 untranslated region of the CD40 gene with Graves' disease in Japanese. Thyroid 16, 443-446 (2006)
19. J.F. Brunet, F. Denizot, M.F. Luciani, M. Roux-Dosseto, M. Suzan, M.G. Mattei, P. Golstein, A new member of the immunoglobulin superfamily-CTLA-4. Nature 328, 267-270 (1987)
20. P. Waterhouse, J.M. Penninger, E. Timms, A. Wakeham, A. Shahinian, K.P. Lee, C.B. Thompson, H. Griesser, T.W. Mak, Lymphoproliferative disorders with early lethality in mice deficient in CTLA-4. Science 270, 985-988 (1995)
21. 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)
22. T. Kouki, C.A. Gardine, T. Yanagawa, L.J. Degroot, Relation of three polymorphisms of the CTLA-4 gene in patients with Graves' disease. J. Endocrinol. Invest. 25, 208-213 (2002) (Pubitemid 34295874)
23. 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) (Pubitemid 34106709)
24. J.M. Heward, A. Allahabadia, M. Armitage, A. Hattersley, P.M. Dodson, K. Macleod, J.C. Smith, J. Daykin, A. Daly, M.C. Sheppard, R.L. Holder, A.H. Barnett, J.A. Franklyn, S.C.L. Gough, The development of Graves' disease and the CTLA-4 gene on chromosome 2q33. J. Clin. Endocrinol. Metab. 84, 2398-2401 (1999)
25. Y. Kinjo, N. Takasu, I. Komiya, T. Tomoyose, M. Takara, T. Kouki, Y. Shimajiri, K. Yabiku, H. Yoshimura, 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. 87, 2593-2596 (2002) (Pubitemid 34655319)
26. 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, CTLA-4 gene polymorphisms and autoimmune thyroid disease: a meta analysis. J. Clin. Endocrinol. Metab. 92, 3162-3170 (2007)
27. M. Sahin, M.F. Erdogan, G. Erdogan, Cytotoxic T lymphocyteassociated molecule-4 polymorphisms in Turkish Graves' disease patients and association with probability of remission after antithyroid therapy. Eur. J. Intern. Med. 16, 352-355 (2005) (Pubitemid 41755033)
28. M. Sahin, A. Gursoy, M.F. Erdogan, Cytotoxic T lymphocyteassociated molecule-4 polymorphism in Turkish patients with Hashimoto thyroiditis. Int. J. Immunogenet. 36, 103-106 (2009)