Genetic variations in matrix metalloproteinases may be associated with increased risk of ulcerative colitis

Human Immunology

Volumn 72, Issue 11, 2011, Pages 1117-1127

  Morgan, Angharad R ^a,b   Han, Dug Yeo ^a,b   Lam, Wen Jiun ^a,b   Triggs, Christopher M ^a,b   Fraser, Alan G ^a,b   Barclay, Murray ^c,d   Gearry, Richard B ^d   Meisner, Sander ^e   Stokkers, Pieter ^e   Boeckxstaens, Guy E ^e   Ferguson, Lynnette R ^a,b  

^a UNIVERSITY OF AUCKLAND   (New Zealand)

^b Nutrigenomics New Zealand   (New Zealand)

^c UNIVERSITY OF OTAGO   (New Zealand)

^d Clinical Pharmacology ^*  (New Zealand)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

Genetic association; Matrix metalloproteinase; Ulcerative colitis

Indexed keywords

COLLAGENASE 3; GELATINASE A; GELATINASE B; INTERSTITIAL COLLAGENASE; MACROPHAGE ELASTASE; MATRILYSIN; MATRIX METALLOPROTEINASE; MATRIX METALLOPROTEINASE 14; NEUTROPHIL COLLAGENASE; STROMELYSIN; STROMELYSIN 2; TISSUE INHIBITOR OF METALLOPROTEINASE 1; TISSUE INHIBITOR OF METALLOPROTEINASE 3; TISSUE INHIBITOR OF METALLOPROTEINASE 4;

ADOLESCENT; ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; ULCERATIVE COLITIS;

ADULT; AGED; COLITIS, ULCERATIVE; DISEASE PROGRESSION; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MATRIX METALLOPROTEINASES; MIDDLE AGED; NETHERLANDS; NEW ZEALAND; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 80054092008     PISSN: 01988859     EISSN: 18791166     Source Type: Journal    
DOI: 10.1016/j.humimm.2011.08.011     Document Type: Article

References (49)

1. Ravi A., Garg P., Sitaraman S.V. Matrix metalloprotainases in inflammatory bowel disease: Boon or bane. Inflamm Bowel Dis 2007, 13:97-107.
2. Bikedal-Hansen H., Moore W.G.I., Bodden M.K., Windsor L.J., Birkedal-Hansen B., DeCarlo A., et al. Matrix metalloproteinases: A review. Crit Rev Oral Biol Med 1993, 4:197-250.
3. Parks W.C., Wilson C.L., LÓpez-Boado Y.S. Matrix metalloproteinases as modulators of inflammation and innate immunity. Nat Rev Immunol 2004, 4:617-629.
4. Matrisian L.M. Metalloproteinases and their inhibitors in matrix remodelling. Trends Genet 1990, 6:121-125.
5. Nagase H. Activation mechanisms of matrix metalloproteinases. Biol Chem 1997, 378:151-160.
6. Amǎlinei C., Cǎruntu I.D., Giuşcǎ S.E., Bǎlan R.A. Matrix metalloproteinases involvement in pathologic conditions. Rom J Morphol Embryol 2010, 51:215-228.
7. Gordon J.N., Pickard K.M., Di Sabatino A., Prothero J.D., Pender S.L., Goggin P.M., et al. Matrix metalloproteinase-3 production by gut IgG plasma cells in chronic inflammatory bowel disease. Inflamm Bowel Dis 2008, 14:195-203.
8. Kapsoritakis A.N., Kapsoritaki A.I., Davidi I.P., Lotis V.D., Manolakis A.C., Mylonis P.I., et al. Imbalance of tissue inhibitors of metalloproteinases (TIMP) -1 and -4 serum levels, in patients with inflammatory bowel disease. BMC Gastroenterol 2008, 8:55.
9. Louis E., Ribbens C., Godon A., Franchimont D., De Groote D., Hardy N., et al. Increased production of matrix metalloproteinase-3 and tissue inhibitor of metalloproteinase-1 by inflamed mucosa in inflammatory bowel disease. Clin Exp Immunol 2000, 120:241-246.
10. Meijer M.J., Mieremet-Ooms M.A., Sier C.F., van Hogezand R.A., Lamers C.B., Hommes D.W., et al. Matrix metalloproteinases and their tissue inhibitors as prognostic indicators for diagnostic and surgical recurrence in Crohn's disease. Inflamm Bowel Dis 2009, 15:84-92.
11. Pender S.L., Li C.K., Di Sabatino A., MacDonald T.T., Buckley M.G., Buckley M.G. Role of macrophage metalloelastase in gut inflammation. Ann N Y Acad Sci 2006, 1072:386-388.
12. Rath T., Roderfeld M., Graf J., Wagner S., Vehr A.K., Dietrich C., et al. Enhanced expression of MMP-7 and MMP-13 in inflammatory bowel disease: A precancerous potential?. Inflamm Bowel Dis 2006, 12:1025-1035.
13. Vizoso F.J., González L.O., Corte M.D., Corte M.G., Bongera M., Martínez A., et al. Collagenase-3 (MMP-13) expression by inflamed mucosa in inflammatory bowel disease. Scand J Gastroenterol 2006, 41:1050-1055.
14. von Lampe B., Barthel B., Coupland S.E., Riecken E.O., Rosewicz S. Differential expression of matrix metalloproteinases and their tissue inhibitors in colon mucosa of patients with inflammatory bowel disease. Gut 2000, 47:63-73.
15. Pender S.L.F., Croucher P.J.P., Mascheretti S., Prothero J.D., Fisher S.A., MacDonald T.T., et al. Transmission disequilibrium test of stromelysin-1 gene variation in relation to Crohn's disease. J Med Genet 2004, 41:e112.
16. Meijer M.J.W., Mieremet-Ooms M.A.C., van Hogezand R.A., Lamers C.B., Hommes D.W., Verspaget H.W. Role of matrix metalloproteinase, tissue inhibitor of metalloproteinase and tumor necrosis factor-α single nucleotide gene polymorphisms in inflammatory bowel disease. World J Gastroenterol 2007, 13:2960-2966.
17. Tarrant K.M., Barclay M.L., Frampton C.M., Gearry R.B. Perianal disease predicts changes in Crohn's disease phenotype-results of a population-based study of inflammatory bowel disease phenotype. Am J Gastroenterol 2008, 103:3082-3093.
18. Lennard-Jones J.E. Classification of inflammatory bowel disease. Scand J Gastroenterol 1989, 170:2-6.
19. Rutter J.L., Mitchell T.I., Buttici G., Meyers J., Gusella J.F., Ozelius L.J., et al. A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res 1998, 58:5321-5325.
20. Ye S., Eriksson P., Hamsten A., Kurkinen M., Humphries S.E., Henney A.M. Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression. J Biol Chem 1996, 271:13055-13060.
21. Zhang B., Ye S., Herrmann S.M., Eriksson P., de Maat M., Evans A., et al. Functional polymorphism in the regulatory region of gelatinase B gene in relation to severity of coronary atherosclerosis. Circulation 1999, 99:1788-1794.
22. Yoon S., Kuivaniemi H., Gatalica Z., Olson J.M., Butticè G., Ye S., et al. MMP13 promoter polymorphism is associated with atherosclerosis in the abdominal aorta of young black males. Matrix Biol 2002, 21:487-498.
23. Hemminger B.M., Saelim B., Sullivan P.F. Tamal: An integrated approach to choosing SNPs for genetic studies of human complex traits. Bioinformatics 2006, 22:626-627.
24. Jurinke C., van der Boom D., Cantor C.R., KÖster H. The use of massARRAY technology for high throughput genotyping. Adv Biochem Eng/Biotechnol 2002, 77:57-74.
25. Storm N., Darnhofer-Patel B., van der Boom D., Rodi C.P. MALDI-TOF mass spectrometry-based SNP genotyping. Methods Mol Biol 2003, 212:241-262.
26. Wigginton J.E., Cutler D.J., Abecasis G.R. A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet 2005, 76:887-893.
27. Sasieni P.D. From genotypes to genes: doubling the sample size. Biometrics 1997, 53:1253-1261.
28. Bender R., Lange S. Adjusting for multiple testing-when and how?. J Clin Epidemiol 2001, 54:343-349.
29. Jones H.E., Ohlssen D.I., Spiegelhalter D.J. Use of the false discovery rate when comparing multiple health care providers. J Clin Epidemiol 2008, 61:232-240.
30. Barrett J.C., Fry B., Maller J., Daly M.J. Haploview: Analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
31. Gabriel S.B., Schaffner S.F., Nguyen H., Moore J.M., Roy J., Blumenstiel B., et al. The structure of haplotype blocks in the human genome. Science 2002, 296:2225-2229.
32. Decock J., Long J.R., Laxton R.C., Shu X.O., Hodgkinson C., Hendrickx W., et al. Association of matrix metalloproteinase-8 gene variation with breast cancer prognosis. Cancer Res 2007, 67:10214-10221.
33. Holt P.G. Immune and inflammatory function in cigarette smokers. Thorax 1987, 42:241-249.
34. Francus T., Klein R.F., Staiano-Coico L., Becker C.G., Siskind G.W. Effects of tobacco glycoprotein (TGP) on the immune system. II. TGP stimulates the proliferation of human T cells and the differentiation of human B cells into Ig secreting cells. J Immunol 1988, 140:1823-1829.
35. George J., Levy Y., Shoenfeld Y. Smoking and immunity: An additional player in the mosaic of autoimmunity. Scand J Immunol 1997, 45:1-6.
36. Dupont W.D., Plummer W.D. Power and sample size calculations for studies involving linear regression. Control Clin Trials 1998, 19:589-601.
37. Anderson C.A., Boucher G., Lees C.W., Franke A., D'Amato M., Taylor K.D., et al. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet 2011, 43:246-252.
38. Zhang K., Cui S., Chang S., Zhang L., Wang J. i-GSEA4GWAS: a web server for identification of pathways/gene sets associated with traits by applying an improved gene set enrichment analysis to genome-wide association study. Nucleic Acids Res 2010, 38(Web Server issue):W90-W95.
39. Pirilä E., Ramamurthy N.S., Sorsa T., Salo T., Hietanen J., Maisi P. Gelatinase A (MMP-2), collagenase-2 (MMP-8), and laminin-5 gamma2-chain expression in murine inflammatory bowel disease (ulcerative colitis). Dig Dis Sci 2003, 48:93-98.
40. Vaalamo M., Karjalainen-Lindsberg M.L., Puolakkainen P., Kere J., Saarialho-Kere U. Distinct expression profiles of stromelysin-2 (MMP-10), collagenase-3 (MMP-13), macrophage metalloelastase (MMP-12), and tissue inhibitor of metalloproteinases-3 (TIMP-3) in intestinal ulcerations. Am J Pathol 1998, 152:1005-1014.
41. Madlener M., Mauch C., Conca W., Brauchle M., Parks W.C., Werner S. Regulation of the expression of stromelysin-2 by growth factors in keratinocytes: Implications for normal and impaired wound healing. Biochem J 1996, 320:659-664.
42. Airola K., Reunala T., Salo S., Saarialho-Kere U.K. Urokinase plasminogen activator is expressed by basal keratinocytes before interstitial collagenase, stromelysin-1, and laminin-5 in experimentally induced dermatitis herpetiformis lesions. J Invest Dermatol 1997, 108:7-11.
43. Saarialho-Kere U.K., Pentland A.P., Birkedal-Hansen H., Parks W.C., Welgus H.G. Distinct populations of basal keratinocytes express stromelysin-1 and stromelysin-2 in chronic wounds. J Clin Invest 1994, 94:79-88.
44. Saarialho-Kere U.K., Vaalamo M., Puolakkainen P., Airola K., Parks W.C., Karjalainen-Lindsberg M.L. Enhanced expression of matrilysin, collagenase, and stromelysin-1 in gastrointestinal ulcers. Am J Pathol 1996, 148:519-526.
45. Kirkegaard T., Hansen A., Bruun E., Brynskov J. Expression and localisation of matrix metalloproteinases and their natural inhibitors in fistulae of patients with Crohn's disease. Gut 2004, 53:701-709.
46. Li C.K., Pender S.L., Pickard K.M., Chance V., Holloway J.A., Huett A., et al. Impaired immunity to intestinal bacterial infection in stromelysin-1 (matrix metalloproteinase-3)-deficient mice. J Immunol 2004, 173:5171-5179.
47. Saarialho-Kere U.K. Patterns of matrix metalloproteinase and TIMP expression in chronic ulcers. Arch Dermatol Res 1998, 290(Suppl):S47-S54.
48. Strongin A.Y., Collier I., Bannikov G., Marmer B.L., Grant G.A., Goldberg G.I. Mechanism of cell surface activation of 72-kDa type IV collagenase. Isolation of the activated form of the membrane metalloprotease. J Biol Chem 1995, 270:5331-5338.
49. Itoh Y., Joh T., Tanida S., Sasaki M., Kataoka H., Itoh K., et al. IL-8 promotes cell proliferation and migration through metalloproteinase-cleavage proHB-EGF in human colon carcinoma cells. Cytokines 2005, 29:275-282.