Functional polymorphisms in TBX21 and HLX are associated with development and prognosis of Graves' disease

References

• Iwatani Y, Watanabe M. 1999. Normal mechanisms for self-tolerance. In: Volpe R. editors. Autoimmune endocrinopathies. Totawa, NJ: Humana Press, Inc.1–30.
   Google Scholar
• Davies TF. 2000. Pathogenesis of Graves' disease. In: Braverman LE, Utiger RD. editors. The thyroid: A fundamental and clinical text. Philadelphia, PA: Lippincott Williams & Wilkins518–531.
   Google Scholar
• Jacobson EM, Tomer Y. The genetic basis of thyroid autoimmunity. Thyroid. 2007; 17 10: 949–961.
   PubMed Web of Science ®Google Scholar
• Amino N, Hagen SR, Yamada N, Refetoff S. Measurement of circulating thyroid microsomal antibodies by the tanned red cell haemagglutination technique: Its usefulness in the diagnosis of autoimmune thyroid diseases. Clin Endocrinol (Oxf.). 1976; 5 2: 115–125.
   PubMed Web of Science ®Google Scholar
• 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 6: 859–862.
   PubMed Web of Science ®Google Scholar
• Abbas AK, Murphy KM, Sher A. Functional diversity of helper T lymphocytes. Nature. 1996; 383 6603: 787–793.
   PubMed Web of Science ®Google Scholar
• Mosmann TF, Sad S. The expanding universe of T-cell subsets: Th1, Th2 and more. Immunol Today. 1996; 17 3: 138–146.
   PubMedGoogle Scholar
• Salgame P, Abrams JS, Clayberger C, Goldstein H, Convit J, Modlin RL, Bloom BR. Differing lymphokine profiles of functional subsets of human CD4 and CD8 T cell clones. Science. 1991; 254 5029: 279–282.
   PubMed Web of Science ®Google Scholar
• Yano S, Sone S, Nishioka Y, Mukaida N, Matsushima K, Ogura T. Differential effects of anti-inflammatory cytokines (IL-4, IL-10 and IL-13) on tumoricidal and chemotactic properties of human monocytes induced by monocyte chemotactic and activating factor. J Leukoc Biol. 1995; 57 2: 303–309.
   PubMed Web of Science ®Google Scholar
• Nanba T, Watanabe M, Inoue N, Iwatani Y. Increases of the Th1/Th2 cell ratio in severe Hashimoto's disease and in the proportion of Th17 cells in intractable Graves' disease. Thyroid. 2009; 19 5: 495–501.
   PubMed Web of Science ®Google Scholar
• Ito C, Watanabe M, Okuda N, Watanabe C, Iwatani Y. Association between the severity of Hashimoto's disease and the functional +874A/T polymorphism in the interferon-gamma gene. Endocr J. 2006; 53 4: 473–478.
   PubMed Web of Science ®Google Scholar
• Nanba T, Watanabe M, Akamizu T, Iwatani Y. The -590CC genotype in the IL4 gene as a strong predictive factor for the development of hypothyroidism in Hashimoto disease. Clin Chem. 2008; 54 3: 621–623.
   PubMed Web of Science ®Google Scholar
• Szabo SJ, Kim ST, Costa GL, Zhang X, Fathman CG, Glimcher LH. A novel transcription factor, T-bet, directs Th1 lineage commitment. Cell. 2000; 100 6: 655–669.
   PubMed Web of Science ®Google Scholar
• Zheng W, Flavell RA. The transcription factor GATA-3 is necessary and sufficient for Th2 cytokine gene expression in CD4 T cells. Cell. 1997; 89 4: 587–596.
   PubMed Web of Science ®Google Scholar
• Mowen KA, Glimcher LH. Signaling pathways in Th2 development. Immunol Rev. 2004; 202:203–222.
   PubMed Web of Science ®Google Scholar
• Rautajoki KJ, Kylaniemi MK, Raghav SK, Rao K, Lahesmaa R. An insight into molecular mechanisms of human T helper cell differentiation. Ann Med. 2008; 40 5: 322–335.
   PubMed Web of Science ®Google Scholar
• Zhu J, Yamane H, Paul WE. Differentiation of effector CD4 T cell populations. Annu Rev Immunol. 2010; 28:445–489.
   PubMed Web of Science ®Google Scholar
• Kaneko T, Hosokawa H, Yamashita M, Wang CR, Hasegawa A, Kimura MY, Kitajiama M, Kimura F, Miyazaki M, Nakayama T. Chromatin remodeling at the Th2 cytokine gene loci in human type 2 helper T cells. Mol Immunol. 2007; 44 9: 2249–2256.
   PubMed Web of Science ®Google Scholar
• Suttner K, Rosenstiel P, Depner M, Schedel M, Pinto LA, Ruether A, Adamski J, Klopp N, Illig T, Vogelberg C, Schreiber S, von Mutius E, Kabesch M. TBX21 gene variants increase childhood asthma risk in combination with HLX1 variants. J Allergy Clin Immunol. 2009; 123 5: 1062–1068.
   PubMed Web of Science ®Google Scholar
• Akahoshi M, Obara K, Hirota T, Matsuda A, Hasegawa K, Takahashi N, Shimizu M, Nakashima K, Cheng L, Doi S, Fujiwara H, Miyatake A, Fujita K, Higashi N, Taniguchi M, Enomoto T, Mao XQ, Nakashima H, Adra CN, Nakamura Y, Tamari M, Shirakawa T. Functional promoter polymorphism in the TBX21 gene associated with aspirin-induced asthma. Hum Genet. 2005; 117 1: 16–26.
   PubMed Web of Science ®Google Scholar
• Mullen AC, Hutchins AS, High FA, Lee HW, Sykes KJ, Chodosh LA, Reiner SL. Hlx is induced by and genetically interacts with T-bet to promote heritable T(H)1 gene induction. Nat Immunol. 2002; 3 7: 652–658.
   PubMed Web of Science ®Google Scholar
• Mikhalkevich N, Becknell B, Caligiuri MA, Bates MD, Harvey R, Zheng WP. Responsiveness of naive CD4 T cells to polarizing cytokine determines the ratio of Th1 and Th2 cell differentiation. J Immunol. 2006; 176 3: 1553–1560.
   PubMed Web of Science ®Google Scholar
• Zheng WP, Zhao Q, Zhao X, Li B, Hubank M, Schatz DG, Flavell RA. Up-regulation of Hlx in immature Th cells induces IFN-gamma expression. J Immunol. 2004; 172 1: 114–122.
   PubMed Web of Science ®Google Scholar
• Suttner K, Ruoss I, Rosenstiel P, Depner M, Pinto LA, Schedel M, Adamski J, Illig T, Schreiber S, von Mutius E, Kabesch M. HLX1 gene variants influence the development of childhood asthma. J Allergy Clin Immunol. 2009; 123 1: 82–88.
   PubMed Web of Science ®Google Scholar
• Chakir H, Wang H, Lefebvre DE, Webb J, Scott FW. T-bet/GATA-3 ratio as a measure of the Th1/Th2 cytokine profile in mixed cell populations: Predominant role of GATA-3. J Immunol Methods. 2003; 278 1–2: 157–169.
   PubMed Web of Science ®Google Scholar
• Ho IC, Vorhees P, Marin N, Oakley BK, Tsai SF, Orkin SH, Leiden JM. Human GATA-3: A lineage-restricted transcription factor that regulates the expression of the T cell receptor alpha gene. EMBO J. 1991; 10 5: 1187–1192.
   PubMed Web of Science ®Google Scholar
• Oosterwegel M, Timmerman J, Leiden J, Clevers H. Expression of GATA-3 during lymphocyte differentiation and mouse embryogenesis. Dev Immunol. 1992; 3 1: 1–11.
   PubMedGoogle Scholar
• Ting CN, Olson MC, Barton KP, Leiden JM. Transcription factor GATA-3 is required for development of the T-cell lineage. Nature. 1996; 384 6608: 474–478.
   PubMed Web of Science ®Google Scholar
• Joulin V, Bories D, Eleouet JF, Labastie MC, Chretien S, Mattei MG, Romeo PH. A T-cell specific TCR delta DNA binding protein is a member of the human GATA family. EMBO J. 1991; 10 7: 1809–1816.
   PubMed Web of Science ®Google Scholar
• Labastie MC, Bories D, Chabret C, Gregoire JM, Chretien S, Romeo PH. Structure and expression of the human GATA3 gene. Genomics. 1994; 21 1: 1–6.
   PubMed Web of Science ®Google Scholar
• Asnagli H, Afkarian M, Murphy KM. Cutting edge: Identification of an alternative GATA-3 promoter directing tissue-specific gene expression in mouse and human. J Immunol. 2002; 168 9: 4268–4271.
   PubMed Web of Science ®Google Scholar
• Yu Q, Sharma A, Oh SY, Moon HG, Hossain MZ, Salay TM, Leeds KE, Du H, Wu B, Waterman ML, Zhu Z, Sen JM. T cell factor 1 initiates the T helper type 2 fate by inducing the transcription factor GATA-3 and repressing interferon-gamma. Nat Immunol. 2009; 10 9: 992–999.
   PubMed Web of Science ®Google Scholar
• Watanabe M, Yamamoto N, Maruoka H, Tamai H, Matsuzuka F, Miyauchi A, Iwatani Y. Independent involvement of CD8+ CD25+ cells and thyroid autoantibodies in disease severity of Hashimoto's disease. Thyroid. 2002; 12 9: 801–808.
   PubMed Web of Science ®Google Scholar
• Santoh T, Watanabe M, Kuroda S, Ueda D, Iwatani Y. Ratio of serum IgG3 to total IgG concentration and goiter size are independent factors in intractability of Graves' disease. Endocr J. 2007; 54 6: 887–894.
   PubMed Web of Science ®Google Scholar
• Zhang L, Wang X, Han D, Duan H, Zhao Y. Association of single nucleotide polymorphisms in GATA-3 with allergic rhinitis. Acta Otolaryngol. 2009; 129 2: 190–194.
   PubMed Web of Science ®Google Scholar
• Hwang ES. Transcriptional regulation of T helper 17 cell differentiation. Yonsei Med J. 2010; 51 4: 484–491.
   PubMed Web of Science ®Google Scholar
• Chekmenev D, Haid C, Kel AP-Match URL http://www.gene-regulation.com/pub/programs.html#pmatch.
   Google Scholar
• Yamada H, Watanabe M, Nanba T, Akamizu T, Iwatani Y. The +869T/C polymorphism in the transforming growth factor-beta1 gene is associated with the severity and intractability of autoimmune thyroid disease. Clin Exp Immunol. 2008; 151 3: 379–382.
   PubMed Web of Science ®Google Scholar