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完整後設資料紀錄
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.advisor | 陳沛隆(Pei-Lung Chen) | |
dc.contributor.author | Chia-Ling Chang | en |
dc.contributor.author | 張家綾 | zh_TW |
dc.date.accessioned | 2021-06-16T05:36:04Z | - |
dc.date.available | 2016-10-09 | |
dc.date.copyright | 2014-10-09 | |
dc.date.issued | 2014 | |
dc.date.submitted | 2014-08-13 | |
dc.identifier.citation | 1. Weetman, A.P., Graves' disease. N Engl J Med, 2000. 343(17): p. 1236-48.
2. Carani, C., et al., Multicenter study on the prevalence of sexual symptoms in male hypo- and hyperthyroid patients. J Clin Endocrinol Metab, 2005. 90(12): p. 6472-9. 3. Khoo, T.K. and R.S. Bahn, Pathogenesis of Graves' ophthalmopathy: the role of autoantibodies. Thyroid, 2007. 17(10): p. 1013-8. 4. Schwartz, K.M., et al., Dermopathy of Graves' disease (pretibial myxedema): long-term outcome. J Clin Endocrinol Metab, 2002. 87(2): p. 438-46. 5. Menconi, F., C. Marcocci, and M. Marino, Diagnosis and classification of Graves' disease. Autoimmun Rev, 2014. 13(4-5): p. 398-402. 6. Ginsberg, J., Diagnosis and management of Graves' disease. Cmaj, 2003. 168(5): p. 575-85. 7. Zophel, K., D. Roggenbuck, and M. Schott, Clinical review about TRAb assay's history. Autoimmun Rev, 2010. 9(10): p. 695-700. 8. Costagliola, S., et al., Second generation assay for thyrotropin receptor antibodies has superior diagnostic sensitivity for Graves' disease. J Clin Endocrinol Metab, 1999. 84(1): p. 90-7. 9. Alexander, E.K. and P.R. Larsen, High dose of (131)I therapy for the treatment of hyperthyroidism caused by Graves' disease. J Clin Endocrinol Metab, 2002. 87(3): p. 1073-7. 10. Kahaly, G.J., L. Bartalena, and L. Hegedus, The American Thyroid Association/American Association of Clinical Endocrinologists guidelines for hyperthyroidism and other causes of thyrotoxicosis: a European perspective. Thyroid, 2011. 21(6): p. 585-91. 11. Cooper, D.S., Antithyroid drugs. N Engl J Med, 2005. 352(9): p. 905-17. 12. Jacobsen, R., et al., Subnormal energy expenditure: a putative causal factor in the weight gain induced by treatment of hyperthyroidism. Diabetes Obes Metab, 2006. 8(2): p. 220-7. 13. Vaidya, B., et al., Radioiodine treatment for benign thyroid disorders: results of a nationwide survey of UK endocrinologists. Clin Endocrinol (Oxf), 2008. 68(5): p. 814-20. 14. Wartofsky, L., et al., Differences and similarities in the diagnosis and treatment of Graves' disease in Europe, Japan, and the United States. Thyroid, 1991. 1(2): p. 129-35. 15. Leslie, W.D., et al., A randomized comparison of radioiodine doses in Graves' hyperthyroidism. J Clin Endocrinol Metab, 2003. 88(3): p. 978-83. 16. Grodski, S., et al., Surgery versus radioiodine therapy as definitive management for graves' disease: the role of patient preference. Thyroid, 2007. 17(2): p. 157-60. 17. Geffner, D.L. and J.M. Hershman, Beta-adrenergic blockade for the treatment of hyperthyroidism. Am J Med, 1992. 93(1): p. 61-8. 18. Burch, H.B. and L. Wartofsky, Graves' ophthalmopathy: current concepts regarding pathogenesis and management. Endocr Rev, 1993. 14(6): p. 747-93. 19. Krassas, G.E. and A.E. Heufelder, Immunosuppressive therapy in patients with thyroid eye disease: an overview of current concepts. Eur J Endocrinol, 2001. 144(4): p. 311-8. 20. Brix, T.H., et al., Evidence for a major role of heredity in Graves' disease: a population-based study of two Danish twin cohorts. J Clin Endocrinol Metab, 2001. 86(2): p. 930-4. 21. Tomer, Y. and A. Huber, The etiology of autoimmune thyroid disease: a story of genes and environment. J Autoimmun, 2009. 32(3-4): p. 231-9. 22. Tomer, Y. and T.F. Davies, Searching for the autoimmune thyroid disease susceptibility genes: from gene mapping to gene function. Endocr Rev, 2003. 24(5): p. 694-717. 23. Chen, P.L., et al., Comprehensive genotyping in two homogeneous Graves' disease samples reveals major and novel HLA association alleles. PLoS One, 2011. 6(1): p. e16635. 24. Huang, S.M., et al., The association of HLA -A, -B, and -DRB1 genotypes with Graves' disease in Taiwanese people. Tissue Antigens, 2003. 61(2): p. 154-8. 25. Banchereau, J., et al., The CD40 antigen and its ligand. Annu Rev Immunol, 1994. 12: p. 881-922. 26. Armitage, R.J., et al., Human B cell proliferation and Ig secretion induced by recombinant CD40 ligand are modulated by soluble cytokines. J Immunol, 1993. 150(9): p. 3671-80. 27. Arpin, C., et al., Generation of memory B cells and plasma cells in vitro. Science, 1995. 268(5211): p. 720-2. 28. Ban, Y., et al., Association of a C/T single-nucleotide polymorphism in the 5' untranslated region of the CD40 gene with Graves' disease in Japanese. Thyroid, 2006. 16(5): p. 443-6. 29. Mukai, T., et al., 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, 2005. 52(4): p. 471-7. 30. Kurylowicz, A., et al., Association of CD40 gene polymorphism (C-1T) with susceptibility and phenotype of Graves' disease. Thyroid, 2005. 15(10): p. 1119-24. 31. Kim, T.Y., et al., A C/T polymorphism in the 5'-untranslated region of the CD40 gene is associated with Graves' disease in Koreans. Thyroid, 2003. 13(10): p. 919-25. 32. Tomer, Y., E. Concepcion, and D.A. Greenberg, A C/T single-nucleotide polymorphism in the region of the CD40 gene is associated with Graves' disease. Thyroid, 2002. 12(12): p. 1129-35. 33. Pearce, S.H., et al., Further evidence for a susceptibility locus on chromosome 20q13.11 in families with dominant transmission of Graves disease. Am J Hum Genet, 1999. 65(5): p. 1462-5. 34. Tomer, Y., et al., A new Graves disease-susceptibility locus maps to chromosome 20q11.2. International Consortium for the Genetics of Autoimmune Thyroid Disease. Am J Hum Genet, 1998. 63(6): p. 1749-56. 35. Teft, W.A., M.G. Kirchhof, and J. Madrenas, A molecular perspective of CTLA-4 function. Annu Rev Immunol, 2006. 24: p. 65-97. 36. Finck, B.K., P.S. Linsley, and D. Wofsy, Treatment of murine lupus with CTLA4Ig. Science, 1994. 265(5176): p. 1225-7. 37. Knoerzer, D.B., et al., Collagen-induced arthritis in the BB rat. Prevention of disease by treatment with CTLA-4-Ig. J Clin Invest, 1995. 96(2): p. 987-93. 38. Nishikawa, K., et al., Effect of CTLA-4 chimeric protein on rat autoimmune anti-glomerular basement membrane glomerulonephritis. Eur J Immunol, 1994. 24(6): p. 1249-54. 39. Lenschow, D.J., et al., CD28/B7 regulation of Th1 and Th2 subsets in the development of autoimmune diabetes. Immunity, 1996. 5(3): p. 285-93. 40. Zaletel, K., et al., The influence of the exon 1 polymorphism of the cytotoxic T lymphocyte antigen 4 gene on thyroid antibody production in patients with newly diagnosed Graves' disease. Thyroid, 2002. 12(5): p. 373-6. 41. Tomer, Y., et al., CTLA-4 and not CD28 is a susceptibility gene for thyroid autoantibody production. J Clin Endocrinol Metab, 2001. 86(4): p. 1687-93. 42. Vieland, V.J., et al., A multilocus model of the genetic architecture of autoimmune thyroid disorder, with clinical implications. Am J Hum Genet, 2008. 82(6): p. 1349-56. 43. Chen, P.L., et al., Family-based association study of cytotoxic T-lymphocyte antigen-4 with susceptibility to Graves' disease in Han population of Taiwan. Genes Immun, 2008. 9(2): p. 87-92. 44. Ueda, H., et al., Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature, 2003. 423(6939): p. 506-11. 45. Vaidya, B., et al., The cytotoxic T lymphocyte antigen-4 is a major Graves' disease locus. Hum Mol Genet, 1999. 8(7): p. 1195-9. 46. Heward, J.M., et al., The development of Graves' disease and the CTLA-4 gene on chromosome 2q33. J Clin Endocrinol Metab, 1999. 84(7): p. 2398-401. 47. Cloutier, J.F. and A. Veillette, Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphatase. J Exp Med, 1999. 189(1): p. 111-21. 48. Velaga, M.R., et al., The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab, 2004. 89(11): p. 5862-5. 49. Criswell, L.A., et al., Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am J Hum Genet, 2005. 76(4): p. 561-71. 50. Smyth, D., et al., Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes, 2004. 53(11): p. 3020-3. 51. Kyogoku, C., et al., Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet, 2004. 75(3): p. 504-7. 52. Bottini, N., et al., A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet, 2004. 36(4): p. 337-8. 53. Begovich, A.B., et al., A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet, 2004. 75(2): p. 330-7. 54. Tomer, Y., et al., Thyroglobulin is a thyroid specific gene for the familial autoimmune thyroid diseases. J Clin Endocrinol Metab, 2002. 87(1): p. 404-7. 55. Hsiao, J.Y., et al., Exon 33 T/T genotype of the thyroglobulin gene is a susceptibility gene for Graves' disease in Taiwanese and exon 12 C/C genotype protects against it. Clin Exp Med, 2008. 8(1): p. 17-21. 56. Hsiao, J.Y., et al., Association between a C/T polymorphism in exon 33 of the thyroglobulin gene is associated with relapse of Graves' hyperthyroidism after antithyroid withdrawal in Taiwanese. J Clin Endocrinol Metab, 2007. 92(8): p. 3197-201. 57. Chistyakov, D.A., et al., Complex association analysis of graves disease using a set of polymorphic markers. Mol Genet Metab, 2000. 70(3): p. 214-8. 58. Cuddihy, R.M., C.M. Dutton, and R.S. Bahn, A polymorphism in the extracellular domain of the thyrotropin receptor is highly associated with autoimmune thyroid disease in females. Thyroid, 1995. 5(2): p. 89-95. 59. Kaczur, V., et al., Analysis of the genetic variability of the 1st (CCC/ACC, P52T) and the 10th exons (bp 1012-1704) of the TSH receptor gene in Graves' disease. Eur J Immunogenet, 2000. 27(1): p. 17-23. 60. Simanainen, J., et al., Analysis of mutations in exon 1 of the human thyrotropin receptor gene: high frequency of the D36H and P52T polymorphic variants. Thyroid, 1999. 9(1): p. 7-11. 61. Allahabadia, A., et al., Lack of association between polymorphism of the thyrotropin receptor gene and Graves' disease in United Kingdom and Hong Kong Chinese patients: case control and family-based studies. Thyroid, 1998. 8(9): p. 777-80. 62. Kotsa, K.D., P.F. Watson, and A.P. Weetman, No association between a thyrotropin receptor gene polymorphism and Graves' disease in the female population. Thyroid, 1997. 7(1): p. 31-3. 63. Lin, S.H., Thyrotoxic periodic paralysis. Mayo Clin Proc, 2005. 80(1): p. 99-105. 64. Ozaki, H., et al., Autonomously functioning thyroid nodule associated with thyrotoxic periodic paralysis. Endocr J, 2008. 55(1): p. 113-9. 65. Lin, S.H., et al., Early diagnosis of thyrotoxic periodic paralysis: spot urine calcium to phosphate ratio. Crit Care Med, 2006. 34(12): p. 2984-9. 66. Maciel, R.M., S.C. Lindsey, and M.R. Dias da Silva, Novel etiopathophysiological aspects of thyrotoxic periodic paralysis. Nat Rev Endocrinol, 2011. 7(11): p. 657-67. 67. Tinker, T.D. and J.B. Vannatta, Thyrotoxic hypokalemic periodic paralysis: report of four cases and review of the literature (2). J Okla State Med Assoc, 1987. 80(2): p. 76-83. 68. Lee, J.I., et al., Thyrotoxic periodic paralysis presenting as polymorphic ventricular tachycardia induced by painless thyroiditis. Thyroid, 2009. 19(12): p. 1433-4. 69. Peiris, A.N., Thyrotoxic periodic paralysis. South Med J, 2002. 95(11): p. 1233-4. 70. Cheng, C.J., et al., Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis. J Biol Chem, 2011. 286(31): p. 27425-35. 71. McFadzean, A.J. and R. Yeung, Periodic paralysis complicating thyrotoxicosis in Chinese. Br Med J, 1967. 1(5538): p. 451-5. 72. Okinaka, S., et al., The association of periodic paralysis and hyperthyroidism in Japan. J Clin Endocrinol Metab, 1957. 17(12): p. 1454-9. 73. Hsieh, M.J., et al., Hypokalemic thyrotoxic periodic paralysis: clinical characteristics and predictors of recurrent paralytic attacks. Eur J Neurol, 2008. 15(6): p. 559-64. 74. Elston, M.S., et al., Thyrotoxic, hypokalaemic periodic paralysis: Polynesians, an ethnic group at risk. Intern Med J, 2007. 37(5): p. 303-7. 75. Iheonunekwu, N.C., et al., Thyrotoxic hypokalaemic paralysis in a pregnant Afro-Caribbean woman. A case report and review of the literature. West Indian Med J, 2004. 53(1): p. 47-9. 76. Satam, N., et al., Fatal thyrotoxic periodic paralysis with normokalemia. Indian J Pediatr, 2007. 74(11): p. 1041-3. 77. Wong, G.W., et al., Thyrotoxic periodic paralysis in a 14-year-old boy. Eur J Pediatr, 2000. 159(12): p. 934. 78. Kelley, D.E., et al., Thyrotoxic periodic paralysis. Report of 10 cases and review of electromyographic findings. Arch Intern Med, 1989. 149(11): p. 2597-600. 79. Ober, K.P., Thyrotoxic periodic paralysis in the United States. Report of 7 cases and review of the literature. Medicine (Baltimore), 1992. 71(3): p. 109-20. 80. Manoukian, M.A., J.A. Foote, and L.M. Crapo, Clinical and metabolic features of thyrotoxic periodic paralysis in 24 episodes. Arch Intern Med, 1999. 159(6): p. 601-6. 81. Abbas, M.T., et al., Thyrotoxic periodic paralysis admitted to the medical department in Qatar. Neth J Med, 2008. 66(9): p. 384-8. 82. Tessier, J.J., S.K. Neu, and K.K. Horning, Thyrotoxic periodic paralysis (TPP) in a 28-year-old sudanese man started on prednisone. J Am Board Fam Med, 2010. 23(4): p. 551-4. 83. Hagel, S., et al., Chest pain and paralysis after pulse prednisolone therapy an unusual case presentation of thyrotoxic periodic paralysis: a case report. Cases J, 2009. 2: p. 7501. 84. Wongraoprasert, S., et al., Thyrotoxic periodic paralysis induced by pulse methylprednisolone. Intern Med, 2007. 46(17): p. 1431-3. 85. Liu, Z., L.E. Braverman, and A. Malabanan, Thyrotoxic periodic paralysis in a Hispanic man after the administration of prednisone. Endocr Pract, 2006. 12(4): p. 427-31. 86. Kung, A.W., Clinical review: Thyrotoxic periodic paralysis: a diagnostic challenge. J Clin Endocrinol Metab, 2006. 91(7): p. 2490-5. 87. Diedrich, D.A. and D.J. Wedel, Thyrotoxic periodic paralysis and anesthesia report of a case and literature review. J Clin Anesth, 2006. 18(4): p. 286-92. 88. Ko, G.T., et al., Thyrotoxic periodic paralysis in a Chinese population. Qjm, 1996. 89(6): p. 463-8. 89. Thompson, M.P. and J.K. Pinckard, A rare case of thyrotoxic periodic paralysis presenting to the medical examiner. Am J Forensic Med Pathol, 2011. 32(3): p. 232-5. 90. Abbasi, B., Z. Sharif, and L.R. Sprabery, Hypokalemic thyrotoxic periodic paralysis with thyrotoxic psychosis and hypercapnic respiratory failure. Am J Med Sci, 2010. 340(2): p. 147-53. 91. Liu, Y.C., et al., Acute hypercapnic respiratory failure due to thyrotoxic periodic paralysis. Am J Med Sci, 2004. 327(5): p. 264-7. 92. Birkhahn, R.H., T.J. Gaeta, and L. Melniker, Thyrotoxic periodic paralysis and intravenous propranolol in the emergency setting. J Emerg Med, 2000. 18(2): p. 199-202. 93. Crane, M.G., Periodic Paralysis Associated with Hyperthyroidism. Calif Med, 1960. 92(4): p. 285-8. 94. Hsu, Y.J., et al., Electrocardiographic manifestations in patients with thyrotoxic periodic paralysis. Am J Med Sci, 2003. 326(3): p. 128-32. 95. Lapie, P., P. Lory, and B. Fontaine, Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel. Neuromuscul Disord, 1997. 7(4): p. 234-40. 96. Lin, S.H., et al., Laboratory tests to determine the cause of hypokalemia and paralysis. Arch Intern Med, 2004. 164(14): p. 1561-6. 97. Pothiwala, P. and S.N. Levine, Analytic review: thyrotoxic periodic paralysis: a review. J Intensive Care Med, 2010. 25(2): p. 71-7. 98. Shiang, J.C., et al., Therapeutic analysis in Chinese patients with thyrotoxic periodic paralysis over 6 years. Eur J Endocrinol, 2009. 161(6): p. 911-6. 99. Lu, K.C., et al., Effects of potassium supplementation on the recovery of thyrotoxic periodic paralysis. Am J Emerg Med, 2004. 22(7): p. 544-7. 100. Yeung, R.T. and T.F. Tse, Thyrotoxic periodic paralysis. Effect of propranolol. Am J Med, 1974. 57(4): p. 584-90. 101. Shayne, P. and A. Hart, Thyrotoxic periodic paralysis terminated with intravenous propranolol. Ann Emerg Med, 1994. 24(4): p. 736-40. 102. Sejersted, O.M. and G. Sjogaard, Dynamics and consequences of potassium shifts in skeletal muscle and heart during exercise. Physiol Rev, 2000. 80(4): p. 1411-81. 103. Falhammar, H., M. Thoren, and J. Calissendorff, Thyrotoxic periodic paralysis: clinical and molecular aspects. Endocrine, 2013. 43(2): p. 274-84. 104. Chan, A., et al., In vivo and in vitro sodium pump activity in subjects with thyrotoxic periodic paralysis. BMJ, 1991. 303(6810): p. 1096-9. 105. Lin, M.H. and T. Akera, Increased (Na+,K+)-ATPase concentrations in various tissues of rats caused by thyroid hormone treatment. J Biol Chem, 1978. 253(3): p. 723-6. 106. Mulder, J.E., Thyroid disease in women. Med Clin North Am, 1998. 82(1): p. 103-25. 107. Gennari, F.J., Hypokalemia. N Engl J Med, 1998. 339(7): p. 451-8. 108. Brown, M.J., D.C. Brown, and M.B. Murphy, Hypokalemia from beta2-receptor stimulation by circulating epinephrine. N Engl J Med, 1983. 309(23): p. 1414-9. 109. Ginsberg, A.M., et al., Triiodothyronine-induced thyrotoxicosis increases mononuclear leukocyte beta-adrenergic receptor density in man. J Clin Invest, 1981. 67(6): p. 1785-91. 110. Chan, A., et al., Hyperinsulinaemia and Na+, K(+)-ATPase activity in thyrotoxic periodic paralysis. Clin Endocrinol (Oxf), 1994. 41(2): p. 213-6. 111. Soonthornpun, S., W. Setasuban, and A. Thamprasit, Insulin resistance in subjects with a history of thyrotoxic periodic paralysis (TPP). Clin Endocrinol (Oxf), 2009. 70(5): p. 794-7. 112. Li, W., et al., Effects of sex steroid hormones, thyroid hormone levels, and insulin regulation on thyrotoxic periodic paralysis in Chinese men. Endocrine, 2010. 38(3): p. 386-90. 113. Griggs, R.C., J. Resnick, and W.K. Engel, Intravenous treatment of hypokalemic periodic paralysis. Arch Neurol, 1983. 40(9): p. 539-40. 114. Guerra, M., et al., Androgens stimulate preoptic area Na+,K+-ATPase activity in male rats. Neurosci Lett, 1987. 78(1): p. 97-100. 115. Azzarolo, A.M., et al., Androgen support of lacrimal gland function. Endocrine, 1997. 6(1): p. 39-45. 116. Puwanant, A. and R.L. Ruff, INa and IKir are reduced in Type 1 hypokalemic and thyrotoxic periodic paralysis. Muscle Nerve, 2010. 42(3): p. 315-27. 117. Ryan, D.P., et al., Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell, 2010. 140(1): p. 88-98. 118. Ruff, R.L., Insulin acts in hypokalemic periodic paralysis by reducing inward rectifier K+ current. Neurology, 1999. 53(7): p. 1556-63. 119. Dias da Silva, M.R., et al., Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel alpha1 subunit gene (Cav1.1) are not associated with thyrotoxic hypokalaemic periodic paralysis. Clin Endocrinol (Oxf), 2002. 56(3): p. 367-75. 120. Kung, A.W., et al., Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis. J Clin Endocrinol Metab, 2004. 89(3): p. 1340-5. 121. Dias Da Silva, M.R., et al., A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis. J Clin Endocrinol Metab, 2002. 87(11): p. 4881-4. 122. Lane, A.H., K. Markarian, and I. Braziunene, Thyrotoxic periodic paralysis associated with a mutation in the sodium channel gene SCN4A. J Pediatr Endocrinol Metab, 2004. 17(12): p. 1679-82. 123. Ng, W.Y., et al., Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis. Thyroid, 2004. 14(3): p. 187-90. 124. Wang, W., et al., Mutation screening in Chinese hypokalemic periodic paralysis patients. Mol Genet Metab, 2006. 87(4): p. 359-63. 125. Cheung, C.L., et al., Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3. Nat Genet, 2012. 44(9): p. 1026-9. 126. Jongjaroenprasert, W., et al., A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis. J Hum Genet, 2012. 57(5): p. 301-4. 127. The International HapMap Project. Nature, 2003. 426(6968): p. 789-96. 128. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 2007. 447(7145): p. 661-78. 129. Bichet, D., F.A. Haass, and L.Y. Jan, Merging functional studies with structures of inward-rectifier K(+) channels. Nat Rev Neurosci, 2003. 4(12): p. 957-67. 130. de Boer, T.P., et al., The mammalian K(IR)2.x inward rectifier ion channel family: expression pattern and pathophysiology. Acta Physiol (Oxf), 2010. 199(3): p. 243-56. 131. Dhamoon, A.S., et al., Unique Kir2.x properties determine regional and species differences in the cardiac inward rectifier K+ current. Circ Res, 2004. 94(10): p. 1332-9. 132. Schram, G., et al., Barium block of Kir2 and human cardiac inward rectifier currents: evidence for subunit-heteromeric contribution to native currents. Cardiovasc Res, 2003. 59(2): p. 328-38. 133. Hibino, H., et al., Inwardly rectifying potassium channels: their structure, function, and physiological roles. Physiol Rev, 2010. 90(1): p. 291-366. 134. Dassau, L., et al., Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels. J Biol Chem, 2011. 286(11): p. 9526-41. 135. Tawil, R., et al., Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol, 1994. 35(3): p. 326-30. 136. Andersen, E.D., P.A. Krasilnikoff, and H. Overvad, Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? Acta Paediatr Scand, 1971. 60(5): p. 559-64. 137. Andelfinger, G., et al., KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet, 2002. 71(3): p. 663-8. | |
dc.identifier.uri | http://tdr.lib.ntu.edu.tw/jspui/handle/123456789/56582 | - |
dc.description.abstract | 甲狀腺毒性週期性癱瘓是一種由甲狀腺機能亢進引起的少見併發症,大部分發生在葛瑞夫茲氏病患者身上,尤以亞洲的男性最為常見。患者通常因急性的四肢無力、癱軟的症狀進入急診,經抽血檢驗會發現程度不等的低血鉀現象,惟詳細的致病機轉尚未完全清楚。在大量攝入碳水化合物、酒精或者劇烈運動之後是發作的高峰期,症狀嚴重的程度因人而異,從輕微的肌肉無力至嚴重的全身性癱瘓皆有,但大多會在發作後的72小時內恢復正常。
西元2010年,相關文獻發表指出鉀離子通道蛋白Kir2.6(KCNJ18)的基因突變與甲狀腺毒性週期性癱瘓有關,在高加索族群中約有三分之一的患者帶有此基因變異,然而在發生率較高的亞洲族群中反而少有患者帶有這樣的突變,暗示應有其他基因參與其中。西元2012年,分別以中國大陸南方族群和泰國群族進行的全基因體相關研究一致指出在染色體17q24.3位置的核苷酸多型性與甲狀腺毒性週期性癱瘓有關,其上游的KCNJ2基因被認為可能扮演重要的角色。 在本篇論文中我們以臺大醫院收案之甲狀腺毒性週期性癱瘓者共53位男性做為研究對象,使用153位不曾出現週期性癱瘓症狀之男性葛瑞夫茲氏病患者做為對照進行全基因組相關分析,結果發現到位於17q24.3區域的單核苷酸多型性rs992072與此症具有最高的相關性(P=3.18×10-7,odds ratio=3.8)。此外針對可能的致病基因KCNJ2與KCNJ18施行直接定序,結果顯示在53位甲狀腺毒性週期性癱瘓者中並沒有任何患者帶有KCNJ2或KCNJ18的致病突變。我們的研究結果與其他團隊先前發表的文獻大致相符,再度證實KCNJ18基因突變並非亞洲族群甲狀腺毒性週期性癱瘓的主要致病原因,而染色體17q24.3區域的核苷酸多型性也確實具有相當程度的影響力,可能的分子機制還需要更進一步研究。 | zh_TW |
dc.description.abstract | Thyrotoxic periodic paralysis (TPP) is a rare complication of hyperthyroidism that most often affects East Asian males. It is most commonly observed in Graves’ disease(GD) patients but may occur with any etiology of thyrotoxicosis. The typical presentations of TPP are muscle paralysis and a variable degree of hypokalemia. Patients usually seek medical attention at the emergency room because of acute muscle weakness. The attacks are often preceded by heavy carbohydrate-rich meal, alcohol abuse or strenuous exercise, varying from mild weakness to total paralysis with complete recovery within 72 hours.
The pathogenesis of TPP still remains unclear, but it is known to be associated with hypokelamia which is caused by a massive shift of potassium into the intracellular compartments. In 2010, KCNJ18 gene mutations which alter the function of an inwardly rectifying potassium channel named Kir2.6 were identified as a cause of TPP. These KCNJ18 mutations are highly prevalent in individuals with TPP in Caucasian populations but are not common in individuals from Asia. This suggests that additional genetic variants may also contribute to TPP susceptibility, especially in Asian populations. In 2012, genome-wide association studies(GWAS) of TPP in a Thai population and southern Chinese independently identified a susceptibility locus on chromosome 17q24.3 which might have functions on regulating the expression of another potassium channel gene named KCNJ2. In this study, we performed GWAS with 53 male TPP patients and 153 male GD controls diagnosed at National Taiwan University Hospital and identified a susceptibility locus also at 17q24.3 (rs992072: P=3.18×10-7,odds ratio=3.8). Direct sequencing of the coding region of KCNJ2 and KCNJ18 genes in TPP patients found no obvious disease-causing variants. Our results were compatible with previous studies from Thai and southern Chinese populations. Further work is needed to characterize the 17q24.3 region and to delineate the functional significance of the variant(s) in TPP susceptibility. | en |
dc.description.provenance | Made available in DSpace on 2021-06-16T05:36:04Z (GMT). No. of bitstreams: 1 ntu-103-P01448011-1.pdf: 4251996 bytes, checksum: eb09b72a876678ccf5a0653b3411fb61 (MD5) Previous issue date: 2014 | en |
dc.description.tableofcontents | 論文口試委員審定書 i
誌謝 ii 中文摘要 iii 英文摘要 iv 目錄 vi 圖目錄 ix 表目錄 x 第一章 緒論 1 1.1 葛瑞夫茲氏病(Graves’ disease, GD) 1 1.1.1 葛瑞夫茲氏病簡介 1 1.1.2 葛瑞夫茲氏病之臨床表徵 1 1.1.2.1 葛瑞夫茲氏病典型表徵 2 1.1.2.2 葛瑞夫茲氏病綜合性表徵 3 1.1.3 葛瑞夫茲氏病之診斷 4 1.1.3.1 生化學檢驗 4 1.1.3.2 影像學檢驗 4 1.1.4 葛瑞夫茲氏病之治療 5 1.1.4.1 甲狀腺機能亢進治療 5 1.1.4.2 症狀治療 6 1.1.5 葛瑞夫茲氏病與基因 6 1.1.5.1 免疫調節基因 6 1.1.5.2 甲狀腺調控基因 7 1.2 甲狀腺毒性週期性癱瘓(thyrotoxic periodic paralysis, TPP) 8 1.2.1 甲狀腺毒性週期性癱瘓簡介 8 1.2.2 甲狀腺毒性週期性癱瘓之臨床症狀 9 1.2.3 甲狀腺毒性週期性癱瘓之診斷 10 1.2.4 甲狀腺毒性週期性癱瘓之治療 10 1.2.5 甲狀腺毒性週期性癱瘓之致病機轉 11 1.2.6 甲狀腺毒性週期性癱瘓與基因 13 1.3 研究動機 14 第二章 材料與方法 16 2.1 研究材料 16 2.2 DNA萃取 16 2.3 引子(primers) 17 2.4 聚合酶連鎖反應(polymerase chain reaction, PCR) 17 2.4.1 PCR反應試劑 17 2.4.2 PCR反應條件 19 2.5 洋菜膠體電泳(agarose gel electrophoresis) 19 2.6 基因定序(sequencing)與比對(alignment) 19 2.7 全基因體相關研究(genome-wide association study, GWAS) 19 2.7.1 全基因體相關研究簡介 19 2.7.2 基因型鑑定(Genotyping) 20 2.7.3 品質控制(Quality control) 20 2.7.4 統計分析(Statistical analysis) 20 第三章 結果 22 3.1 全基因體相關研究分析結果 22 3.2 KCNJ2與KCNJ18基因定序結果 26 第四章 討論 27 4.1 KCNJ18(Kir2.6) 27 4.2 全基因體相關研究(GWAS) 29 4.3 結論與展望 33 參考文獻 34 附錄 48 | |
dc.language.iso | zh-TW | |
dc.title | 甲狀腺毒性週期性癱瘓之全基因體相關研究 | zh_TW |
dc.title | Genome-wide Association Study of Thyrotoxic Periodic Paralysis | en |
dc.type | Thesis | |
dc.date.schoolyear | 102-2 | |
dc.description.degree | 碩士 | |
dc.contributor.oralexamcommittee | 張天鈞(Tien-Chun Chang),楊偉勛(Wei-Shiung Yang) | |
dc.subject.keyword | KCNJ18,KCNJ2,低血鉀,甲狀腺毒性週期性癱瘓,全基因體相關研究, | zh_TW |
dc.subject.keyword | KCNJ18,KCNJ2,hypokelamia,thyrotoxic periodic paralysis(TPP),genome-wide association study(GWAS), | en |
dc.relation.page | 60 | |
dc.rights.note | 有償授權 | |
dc.date.accepted | 2014-08-13 | |
dc.contributor.author-college | 醫學院 | zh_TW |
dc.contributor.author-dept | 分子醫學研究所 | zh_TW |
顯示於系所單位: | 分子醫學研究所 |
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