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Mediators of Inflammation
Volume 2014, Article ID 165758, 8 pages
http://dx.doi.org/10.1155/2014/165758
Research Article

Role of TGF-β Pathway Polymorphisms in Sporadic Thoracic Aortic Aneurysm: rs900 TGF-β2 Is a Marker of Differential Gender Susceptibility

1Department of Pathobiology and Medical and Forensic Biotechnologies, University of Palermo, Corso Tukory 211, 90134 Palermo, Italy
2Unit of Cardiac Surgery, Department of Surgery and Oncology, University of Palermo, Palermo, Italy

Received 17 December 2013; Accepted 15 January 2014; Published 24 February 2014

Academic Editor: Massimiliano M. Corsi Romanelli

Copyright © 2014 Letizia Scola 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.

Linked References

  1. H. Ince and C. A. Nienaber, “Etiology, pathogenesis and management of thoracic aortic aneurysm,” Nature Clinical Practice Cardiovascular Medicine, vol. 4, no. 8, pp. 418–427, 2007. View at Publisher · View at Google Scholar · View at Scopus
  2. E. M. Isselbacher, “Thoracic and abdominal aortic aneurysms,” Circulation, vol. 111, no. 6, pp. 816–828, 2005. View at Publisher · View at Google Scholar · View at Scopus
  3. T. Mizuguchi and N. Matsumoto, “Recent progress in genetics of Marfan syndrome and Marfan-associated disorders,” Journal of Human Genetics, vol. 52, no. 1, pp. 1–12, 2007. View at Publisher · View at Google Scholar · View at Scopus
  4. J. A. Jones, F. G. Spinale, and J. S. Ikonomidis, “Transforming growth factor-β signaling in thoracic aortic aneurysm development: a paradox in pathogenesis,” Journal of Vascular Research, vol. 46, no. 2, pp. 119–137, 2009. View at Publisher · View at Google Scholar · View at Scopus
  5. S. Kurtovic, V. Paloschi, L. Folkersen, J. Gottfries, A. Franco-Cereceda, and P. Eriksson, “Diverging alternative splicing fingerprints in the transforming growth factor-β signaling pathway identified in thoracic aortic aneurysms,” Molecular Medicine, vol. 17, no. 7-8, pp. 665–675, 2011. View at Publisher · View at Google Scholar · View at Scopus
  6. P. Hamet, V. Hadrava, U. Kruppa, and J. Tremblay, “Transforming growth factor β1 expression and effect in aortic smooth muscle cells from spontaneously hypertensive rats,” Hypertension, vol. 17, no. 6, pp. 896–901, 1991. View at Google Scholar · View at Scopus
  7. W. Wang, X. R. Huang, E. Canlas et al., “Essential role of Smad3 in angiotensin II-induced vascular fibrosis,” Circulation Research, vol. 98, no. 8, pp. 1032–1039, 2006. View at Publisher · View at Google Scholar · View at Scopus
  8. Y. Wang, S. Krishna, P. J. Walker, P. Norman, and J. Golledge, “Transforming growth factor-β and abdominal aortic aneurysms,” Cardiovascular Pathology, vol. 22, pp. 126–132, 2013. View at Google Scholar
  9. J. Massagué, “TGF-β signal transduction,” Annual Review of Biochemistry, vol. 67, pp. 753–791, 1998. View at Publisher · View at Google Scholar · View at Scopus
  10. S. H. McKellar, D. J. Tester, M. Yagubyan, R. Majumdar, M. J. Ackerman, and T. M. Sundt III, “Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms,” Journal of Thoracic and Cardiovascular Surgery, vol. 134, no. 2, pp. 290–296, 2007. View at Publisher · View at Google Scholar · View at Scopus
  11. I. El-Hamamsy and M. H. Yacoub, “Cellular and molecular mechanisms of thoracic aortic aneurysms,” Nature Reviews, vol. 6, no. 12, pp. 771–786, 2009. View at Google Scholar · View at Scopus
  12. L. J. Leurs, R. Bell, Y. Degrieck, S. Thomas, R. Hobo, and J. Lundbom, “Endovascular treatment of thoracic aortic diseases: combined experience from the EUROSTAR and United Kingdom Thoracic Endograft registries,” Journal of Vascular Surgery, vol. 40, no. 4, pp. 670–679, 2004. View at Publisher · View at Google Scholar · View at Scopus
  13. R. R. Davies, L. J. Goldstein, M. A. Coady et al., “Yearly rupture or dissection rates for thoracic aortic aneurysms: simple prediction based on size,” Annals of Thoracic Surgery, vol. 73, no. 1, pp. 17–28, 2002. View at Publisher · View at Google Scholar · View at Scopus
  14. R. J. Akhurst, “The paradoxical TGF-β vasculopathies,” Nature Genetics, vol. 44, pp. 838–839, 2012. View at Google Scholar
  15. M. J. Eagleton, “Inflammation in abdominal aortic aneurysms: cellular infiltrate and cytokine profiles,” Vascular, vol. 20, pp. 278–283, 2012. View at Google Scholar
  16. J. Wallinder, D. Bergqvist, and A. E. Henriksson, “Proinflammatory and anti-inflammatory cytokine balance in patients with abdominal aortic aneurysm and the impact of aneurysm size,” Vascular and Endovascular Surgery, vol. 43, no. 3, pp. 258–261, 2009. View at Publisher · View at Google Scholar · View at Scopus
  17. P. McColgan, G. E. Peck, R. M. Greenhalgh, and P. Sharma, “The genetics of abdominal aortic aneurysms: a comprehensive meta-analysis involving eight candidate genes in over 16,700 patients,” International Surgery, vol. 94, no. 4, pp. 350–358, 2009. View at Google Scholar · View at Scopus
  18. M. J. Bown, G. M. Lloyd, R. M. Sandford et al., “The interleukin-10-1082 “A” allele and abdominal aortic aneurysms,” Journal of Vascular Surgery, vol. 46, no. 4, pp. 687–693, 2007. View at Publisher · View at Google Scholar · View at Scopus
  19. H. Jin, H. B. Kim, B. S. Kim et al., “The IL-10 (−627 A/C) promoter polymorphism may be associated with coronary aneurysms and low serum albumin in Korean children with Kawasaki disease,” Pediatric Research, vol. 61, no. 5, pp. 584–587, 2007. View at Publisher · View at Google Scholar · View at Scopus
  20. M. J. Bown, T. Horsburgh, M. L. Nicholson, P. R. F. Bell, and R. D. Sayers, “Cytokines, their genetic polymorphisms, and outcome after abdominal aortic aneurysm repair,” European Journal of Vascular and Endovascular Surgery, vol. 28, no. 3, pp. 274–280, 2004. View at Publisher · View at Google Scholar · View at Scopus
  21. S. Dennler, M. Goumans, and P. ten Dijke, “Transforming growth factor β signal transduction,” Journal of Leukocyte Biology, vol. 71, no. 5, pp. 731–740, 2002. View at Google Scholar · View at Scopus
  22. A. Bobik, “Transforming growth factor-βs and vascular disorders,” Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 26, no. 8, pp. 1712–1720, 2006. View at Publisher · View at Google Scholar · View at Scopus
  23. U. Bartram, D. G. M. Molin, L. J. Wisse et al., “Double-outlet right ventricle and overriding tricuspid valve reflect disturbances of looping, myocardialization, endocardial cushion differentiation, and apoptosis in TGF-β2-knockout mice,” Circulation, vol. 103, no. 22, pp. 2745–2752, 2001. View at Google Scholar · View at Scopus
  24. N. Dünker and K. Krieglstein, “Reduced programmed cell death in the retina and defects in lens and cornea of Tgfβ2-/- Tgfβ3-/- double-deficient mice,” Cell and Tissue Research, vol. 313, no. 1, pp. 1–10, 2003. View at Publisher · View at Google Scholar · View at Scopus
  25. D. G. M. Molin, M. C. DeRuiter, L. J. Wisse et al., “Altered apoptosis pattern during pharyngeal arch artery remodelling is associated with aortic arch malformations in Tgfβ2 knock-out mice,” Cardiovascular Research, vol. 56, no. 2, pp. 312–322, 2002. View at Publisher · View at Google Scholar · View at Scopus
  26. M. E. Lindsay, D. Schepers, N. A. Bolar et al., “Loss-of-function mutations in TGF-Β2 cause a syndromic presentation of thoracic aortic aneurysm,” Nature Genetics, vol. 44, pp. 922–927, 2012. View at Google Scholar
  27. M. Maleszewska, J. R. Moonen, N. Huijkman, B. van de Sluis, G. Krenning, and M. C. Harmsen, “IL-1β and TGF-β2 synergistically induce endothelial to mesenchymal transition in an NFκB-dependent manner,” Immunobiology, vol. 218, pp. 443–454, 2013. View at Google Scholar
  28. C. R. Balistreri, C. Pisano, G. Candore, E. Maresi, M. Codispoti, and G. Ruvolo, “Focus on the unique mechanisms involved in thoracic aortic aneurysm formation in bicuspid aortic valve versus tricuspid aortic valve patients: clinical implications of a pilot study,” European Journal of Cardiothoracic Surgery, vol. 43, pp. e180–e186, 2013. View at Google Scholar
  29. C. R. Balistreri, C. Pisano, T. D'Amico et al., “The role of inflammation in type A aortic dissection: data of a pilot study,” European Journal of Inflammation, vol. 11, pp. 269–278, 2013. View at Google Scholar
  30. R. He, D. Guo, W. Sun et al., “Characterization of the inflammatory cells in ascending thoracic aortic aneurysms in patients with Marfan syndrome, familial thoracic aortic aneurysms, and sporadic aneurysms,” Journal of Thoracic and Cardiovascular Surgery, vol. 136, no. 4, pp. 922.e1–929.e1, 2008. View at Publisher · View at Google Scholar · View at Scopus
  31. K. J. Bee, D. C. Wilkes, R. B. Devereux, C. T. Basson, and C. J. Hatcher, “TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction,” Circulation Cardiovascular Genetics, vol. 5, pp. 621–629, 2012. View at Google Scholar
  32. C. Boileau, D. C. Guo, N. Hanna et al., “TGF-Β2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome,” Nature Genetics, vol. 44, pp. 916–921, 2012. View at Google Scholar
  33. M. E. Lindsay, D. Schepers, N. A. Bolar et al., “Loss-of-function mutations in TGF-Β2 cause a syndromic presentation of thoracic aortic aneurysm,” Nature Genetics, vol. 44, pp. 922–927, 2012. View at Google Scholar
  34. M. Renard, B. Callewaert, F. Malfait et al., “Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGF-Β2,” International Journal of Cardiology, vol. 165, pp. 584–587, 2013. View at Google Scholar
  35. H. Pannu, V. T. Fadulu, J. Chang et al., “Mutations in transforming growth factor-β receptor type II cause familial thoracic aortic aneurysms and dissections,” Circulation, vol. 112, no. 4, pp. 513–520, 2005. View at Publisher · View at Google Scholar · View at Scopus