Association of a functional polymorphism in the matrix metalloproteinase-12 promoter region with systemic sclerosis in an Italian population

Journal of Rheumatology

Volumn 37, Issue 9, 2010, Pages 1852-1857

  Manetti, Mirko ^a   Ibba Manneschi, Lidia ^a   Fatini, Cinzia ^a   Guiducci, Serena ^a   Cuomo, Giovanna ^b   Bonino, Claudia ^c   Bazzichi, Laura ^d   Liakouli, Vasiliki ^e   Giacomelli, Roberto ^e   Abbate, Rosanna ^a   Bombardieri, Stefano ^d   Montecucco, Carlomaurizio ^c   Valentini, Gabriele ^b   Matucci Cerinic, Marco ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d UNIVERSITY OF PISA   (Italy)

^e UNIVERSITY OF L'AQUILA   (Italy)

Author keywords

Disease susceptibility; Gene polymorphism; Matrix metalloproteinase 12; Scleroderma; Systemic sclerosis

Indexed keywords

MACROPHAGE ELASTASE;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; GENOTYPE; HOMOZYGOSITY; HUMAN; ITALY; LUNG FIBROSIS; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SYSTEMIC SCLEROSIS;

ADULT; AGED; ETHNIC GROUPS; FEMALE; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; ITALY; MALE; MATRIX METALLOPROTEINASE 12; MIDDLE AGED; POLYMORPHISM, GENETIC; PROMOTER REGIONS, GENETIC; SCLERODERMA, SYSTEMIC;

EID: 77956477804     PISSN: 0315162X     EISSN: None     Source Type: Journal    
DOI: 10.3899/jrheum.100237     Document Type: Article

References (23)

1. Varga J, Abraham D. Systemic sclerosis: a prototypic multisystem fibrotic disorder. J Clin Invest 2007;117:557-67.
2. Agarwal SK, Tan FK, Arnett FC. Genetics and genomic studies in scleroderma (systemic sclerosis). Rheum Dis Clin North Am 2008;34:17-40.
3. Granel B, Bernard F, Chevillard C. Genetic susceptibility to systemic sclerosis: from clinical aspect to genetic factor analyses. Eur J Intern Med 2009;20:242-52.
4. Hesselstrand R, Scheja A, Akesson A. Mortality and causes of death in a Swedish series of systemic sclerosis patients. Ann Rheum Dis 1998;57:682-6.
5. Varga J, Bashey RI. Regulation of connective tissue synthesis in systemic sclerosis. Int Rev Immunol 1995;12:187-99.
6. Wynn TA. Common and unique mechanisms regulate fibrosis in various fibroproliferative diseases. J Clin Invest 2007;117:524-9.
7. Pardo A, Selman M. Matrix metalloproteases in aberrant fibrotic tissue remodeling. Proc Am Thorac Soc 2006;3:383-8.
8. Lagente V, Le Quement C, Boichot E. Macrophage metalloelastase (MMP-12) as a target for inflammatory respiratory diseases. Expert Opin Ther Targets 2009;13:287-95.
9. Kang HR, Cho SJ, Lee CG, Homer RJ, Elias JA. Transforming growth factor (TGF)-beta 1 stimulates pulmonary fibrosis and inflammation via a Bax-dependent, bid-activated pathway that involves matrix metalloproteinase-12. J Biol Chem 2007;282:7723-32.
10. Matute-Bello G, Wurfel MM, Lee JS, Park DR, Frevert CW, Madtes DK, et al. Essential role of MMP-12 in Fas-induced lung fibrosis. Am J Respir Cell Mol Biol 2007;37:210-21.
11. Serratì S, Cinelli M, Margheri F, Guiducci S, Del Rosso A, Pucci M, et al. Systemic sclerosis fibroblasts inhibit in vitro angiogenesis by MMP-12-dependent cleavage of the endothelial cell urokinase receptor. J Pathol 2006;210:240-8.
12. Jormsjo S, Ye S, Moritz J, Walter DH, Dimmeler S, Zeiher AM, et al. Allele-specific regulation of matrix metalloproteinase-12 gene activity is associated with coronary artery luminal dimensions in diabetic patients with manifest coronary artery disease. Circ Res 2000;86:998-1003.
13. Hunninghake GM, Cho MH, Tesfaigzi Y, Soto-Quiros ME, Avila L, Lasky-Su J, et al. MMP12, lung function, and COPD in high-risk populations. N Engl J Med 2009;361:2599-608.
14. LeRoy EC, Black C, Fleischmajer R, Jablonska S, Krieg T, Medsger TA Jr, et al. Scleroderma (systemic sclerosis): classification, subsets and pathogenesis. J Rheumatol 1988;15:202-5.
15. Liakouli V, Manetti M, Pacini A, Tolusso B, Fatini C, Toscano A, et al. The -670G>A polymorphism in the FAS gene promoter region influences the susceptibility to systemic sclerosis. Ann Rheum Dis 2009;68:584-90.
16. Manetti M, Liakouli V, Fatini C, Cipriani P, Bonino C, Vettori S, et al. Association between a stromal cell-derived factor 1 (SDF-1/CXCL12) gene polymorphism and microvascular disease in systemic sclerosis. Ann Rheum Dis 2009;68:408-11.
17. Woo M, Park K, Nam J, Kim JC. Clinical implications of matrix metalloproteinase-1, -3, -7, -9, -12, and plasminogen activator inhibitor-1 gene polymorphisms in colorectal cancer. J Gastroenterol Hepatol 2007;22:1064-70.
18. Sternlicht MD, Werb Z. How matrix metalloproteinases regulate cell behavior. Annu Rev Cell Dev Biol 2001;17:463-516.
19. Ye S. Polymorphism in matrix metalloproteinase gene promoters: implication in regulation of gene expression and susceptibility of various diseases. Matrix Biol 2000;19:623-9.
20. Wipff J, Dieude P, Avouac J, Tiev K, Hachulla E, Cracowski JL, et al. Association of metalloproteinase gene polymorphisms with systemic sclerosis in the European Caucasian population. J Rheumatol 2010;37:599-602.
21. Garbacki N, Di Valentin E, Piette J, Cataldo D, Crahay C, Colige A. Matrix metalloproteinase 12 silencing: a therapeutic approach to treat pathological lung tissue remodeling? Pulm Pharmacol Ther 2009;22:267-78.
22. Demedts IK, Morel-Montero A, Lebecque S, Pacheco Y, Cataldo D, Joos GF, et al. Elevated MMP-12 protein levels in induced sputum from patients with COPD. Thorax 2006;61:196-201.
23. Sato M, Hirayama S, Lara-Guerra H, Anraku M, Waddell TK, Liu M, et al. MMP-dependent migration of extrapulmonary myofibroblast progenitors contributing to posttransplant airway fibrosis in the lung. Am J Transplant 2009;9:1027-36.