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BioMed Research International
Volume 2013 (2013), Article ID 201372, 6 pages
TNNT2 Gene Polymorphisms Are Associated with Susceptibility to Idiopathic Dilated Cardiomyopathy in the Han Chinese Population
1Cardiac Arrhythmia Center, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100037, China
2The Center of Heart Development, Key Lab of MOE for Development Biology and Protein Chemistry, College of Life Science, Hunan Normal University, Changsha, Hunan 410081, China
3Department of Cardiothoracic Surgery, Affiliated People’s Hospital of Jiangsu University, Zhenjiang 212000, China
4Sino-German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics, Ministry of Education, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100037, China
Received 27 September 2012; Accepted 11 January 2013
Academic Editor: Yasemin Alanay
Copyright © 2013 Xiaoping Li et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- B. J. Maron, J. A. Towbin, G. Thiene et al., “Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention,” Circulation, vol. 113, no. 14, pp. 1807–1816, 2006.
- J. A. Towbin and N. E. Bowles, “The failing heart,” Nature, vol. 415, no. 6868, pp. 227–233, 2002.
- W. M. Franz, O. J. Müller, and H. A. Katus, “Cardiomyopathies: from genetics to the prospect of treatment,” Lancet, vol. 358, no. 9293, pp. 1627–1637, 2001.
- J. Schönberger and C. E. Seidman, “Many roads lead to a broken heart: the genetics of dilated cardiomyopathy,” American Journal of Human Genetics, vol. 69, no. 2, pp. 249–260, 2001.
- J. G. Seidman and C. Seidman, “The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms,” Cell, vol. 104, no. 4, pp. 557–567, 2001.
- V. V. Michels, P. P. Moll, F. A. Miller et al., “The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy,” New England Journal of Medicine, vol. 326, no. 2, pp. 77–82, 1991.
- E. L. Burkett and R. E. Hershberger, “Clinical and genetic issues in familial dilated cardiomyopathy,” Journal of the American College of Cardiology, vol. 45, no. 7, pp. 969–981, 2005.
- L. Mestroni, C. Rocco, D. Gregori et al., “Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity,” Journal of the American College of Cardiology, vol. 34, no. 1, pp. 181–190, 1999.
- T. M. Olson, V. V. Michels, S. N. Thibodeau, Y. S. Tai, and M. T. Keating, “Actin mutations in dilated cardiomyopathy, a heritable form of heart failure,” Science, vol. 280, no. 5364, pp. 750–752, 1998.
- M. Kamisago, S. D. Sharma, S. R. DePalma et al., “Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy,” New England Journal of Medicine, vol. 343, no. 23, pp. 1688–1696, 2000.
- M. Shimizu, H. Ino, T. Yasuda et al., “Gene mutations in adult Japanese patients with dilated cardiomyopathy,” Circulation Journal, vol. 69, no. 2, pp. 150–153, 2005.
- B. Gerull, M. Gramlich, J. Atherton et al., “Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy,” Nature Genetics, vol. 30, no. 2, pp. 201–204, 2002.
- T. M. Olson, N. Y. Kishimoto, F. G. Whitby, and V. V. Michels, “Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy,” Journal of Molecular and Cellular Cardiology, vol. 33, no. 4, pp. 723–732, 2001.
- D. Li, G. Z. Czernuszewicz, O. Gonzalez et al., “Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy,” Circulation, vol. 104, no. 18, pp. 2188–2193, 2001.
- J. Mogensen, R. T. Murphy, T. Shaw et al., “Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy,” Journal of the American College of Cardiology, vol. 44, no. 10, pp. 2033–2040, 2004.
- A. V. Gomes, J. A. Barnes, K. Harada, and J. D. Potter, “Role of troponin T in disease,” Molecular and Cellular Biochemistry, vol. 263, no. 1, pp. 115–129, 2004.
- J. Mogensen, T. Kubo, M. Duque et al., “Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations,” Journal of Clinical Investigation, vol. 111, no. 2, pp. 209–216, 2003.
- L. Thierfelder, H. Watkins, C. MacRae et al., “α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere,” Cell, vol. 77, no. 5, pp. 701–712, 1994.
- P. J. Townsend, H. Farza, C. MacGeoch et al., “Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q,” Genomics, vol. 21, no. 2, pp. 311–316, 1994.
- T. Palm, S. Graboski, S. E. Hitchcock-DeGregori, and N. J. Greenfield, “Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region,” Biophysical Journal, vol. 81, no. 5, pp. 2827–2837, 2001.
- M. García-Castro, J. R. Reguero, A. Batalla et al., “Hypertrophic cardiomyopathy: low frequency of mutations in the β-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients,” Clinical Chemistry, vol. 49, no. 8, pp. 1279–1285, 2003.
- A. J. Sehnert, A. Huq, B. M. Weinstein, C. Walker, M. Fishman, and D. Y. R. Stainier, “Cardiac troponin T is essential in sarcomere assembly and cardiac contractility,” Nature Genetics, vol. 31, no. 1, pp. 106–110, 2002.
- A. N. Chang, M. S. Parvatiyar, and J. D. Potter, “Troponin and cardiomyopathy,” Biochemical and Biophysical Research Communications, vol. 369, no. 1, pp. 74–81, 2008.
- R. E. Hershberger, J. R. Pinto, S. B. Parks et al., “Clinical and functional Characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy,” Circulation, vol. 2, no. 4, pp. 306–313, 2009.
- E. Villard, C. Perret, F. Gary, C. Proust, G. Dilanian, and C. Hengstenberg, “A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy,” European Heart Journal, vol. 32, pp. 1065–1076, 2011.
- K. Stark, U. B. Esslinger, W. Reinhard et al., “Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy,” PLoS Genetics, vol. 6, no. 10, Article ID e1001167, 2010.
- E. Schaeffeler, U. M. Zanger, M. Eichelbaum, S. Asante-Poku, J. G. Shin, and M. Schwab, “Highly multiplexed genotyping of thiopurine S-methyltransferase variants using MALDI-TOF mass spectrometry: reliable genotyping in different ethnic groups,” Clinical Chemistry, vol. 54, no. 10, pp. 1637–1647, 2008.
- L. Dellefave and E. M. McNally, “The genetics of dilated cardiomyopathy,” Current Opinion in Cardiology, vol. 25, no. 3, pp. 198–204, 2010.
- J. D. Potter, Z. Sheng, B. S. Pan, and J. Zhao, “A direct regulatory role for troponin T and a dual role for troponin C in the Ca2+ regulation of muscle contraction,” Journal of Biological Chemistry, vol. 270, no. 6, pp. 2557–2562, 1995.
- S. Morimoto, Q. W. Lu, K. Harada et al., “Ca2+-desensitizing effect of a deletion mutation ΔK210 in cardiac troponin T that causes familial dilated cardiomyopathy,” Proceedings of the National Academy of Sciences of the United States of America, vol. 99, no. 2, pp. 913–918, 2002.
- P. Robinson, M. Mirza, A. Knott et al., “Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy,” Journal of Biological Chemistry, vol. 277, no. 43, pp. 40710–40716, 2002.
- E. Ho, R. Bhindi, E. A. Ashley, and G. A. Figtree, “Genetic analysis in cardiovascular disease: a clinical perspective,” Cardiology in Review, vol. 19, no. 2, pp. 81–89, 2011.
- K. Komamura, N. Iwai, K. Kokame et al., “The role of a common TNNT2 polymorphism in cardiac hypertrophy,” Journal of Human Genetics, vol. 49, no. 3, pp. 129–133, 2004.
- L. Mesnard-Rouiller, J. J. Mercadier, G. Butler-Browne et al., “Troponin T mRNA and protein isoforms in the human left ventricle: pattern of expression in failing and control hearts,” Journal of Molecular and Cellular Cardiology, vol. 29, no. 11, pp. 3043–3055, 1997.