DOI QR코드

DOI QR Code

Matrix Metalloproteinase-2 (-1306 C>T) Promoter Polymorphism and Risk of Colorectal Cancer in the Saudi Population

  • Saeed, Hesham Mahmoud (Biochemistry Department, Division of Gastroenterology, Faculty of Medicine, King Khalid University Hospital) ;
  • Alanazi, Mohammad Saud (Biochemistry Department, Division of Gastroenterology, Faculty of Medicine, King Khalid University Hospital) ;
  • Parine, Narasimha Reddy (Biochemistry Department, Division of Gastroenterology, Faculty of Medicine, King Khalid University Hospital) ;
  • Shaik, Jilani (Biochemistry Department, Division of Gastroenterology, Faculty of Medicine, King Khalid University Hospital) ;
  • Semlali, Abdelhabib (Biochemistry Department, Division of Gastroenterology, Faculty of Medicine, King Khalid University Hospital) ;
  • Alharbi, Othman (Department of Internal Medicine, Division of Gastroenterology, Faculty of Medicine, King Khalid University Hospital) ;
  • Azzam, Nahla (Department of Internal Medicine, Division of Gastroenterology, Faculty of Medicine, King Khalid University Hospital) ;
  • Aljebreen, Abdulrahman (Department of Internal Medicine, Division of Gastroenterology, Faculty of Medicine, King Khalid University Hospital) ;
  • Almadi, Majid (Department of Internal Medicine, Division of Gastroenterology, Faculty of Medicine, King Khalid University Hospital) ;
  • Shalaby, Manal Aly (Biochemistry Department, Division of Gastroenterology, Faculty of Medicine, King Khalid University Hospital)
  • Published : 2013.10.30

Abstract

Background: Matrix metalloproteinase-2 (MMP-2) is an enzyme with proteolytic activity against matrix proteins, particularly basement membrane constituents. A single nucleotide polymorphism (SNP) at -1306, which disrupts a Sp1-type promoter site (CCACC box), results in strikingly lower promoter activity with the T allele. In the present study, we investigated whether this MMP-2 genetic polymorphism might be associated with susceptibility to colorectal cancer (CRC) in the Saudi population. We also analyzed MMP-2 gene expression level sin CRC patients and 4 different cancer cell lines. Materials and Methods: TaqMan allele discrimination assays and DNA sequencing techniques were used to investigate the $C^{-1306}T$ SNP in the MMP-2 gene of Saudi colorectal cancer patients and controls. The MMP-2 gene expression level was also determined in 12 colon cancer tissue samples collected from unrelated patients and histologically normal tissues distant from tumor margins. Results and Conclusions: The MMP-2 $C^{-1306}T$ SNP in the promoter region was associated with CRC in our Saudi population and the MMP-2 gene expression level was found to be 10 times higher in CRC patients. The MMP-2 $C^{-1306}T$ SNP is significantly associated with CRC in the Saudi population and this finding suggested that MMP-2 variants might help predict CRC progression risk among Saudis. We propose that analysis of this gene polymorphism could assist in identification of patient subgroups at risk of a poor disease outcome.

Keywords

Colorectal cancer;matrix metalloproteinases;single nucleotide polymorphism;ORs;odds ratios

References

  1. Clifford A, Beeuwkes R, Lainey L, Silverman KJ (1984). Hypothesis: vasa vasorum and neovascularization of human coronary arteries, a possible role in the pathophysiology of atherosclerosis. N Engl J Med, 310, 175-7. https://doi.org/10.1056/NEJM198401193100307
  2. Ajay G, Boland CR (2012). Reviews in basic and clinical gastroenterology and hepatology. Gastroenterol, 143, 1442-60. https://doi.org/10.1053/j.gastro.2012.09.032
  3. Alory I, Soussan L, Seger R, Yarden Y (1999). Neu differentiation factor stimulates phosphorylation and activation of the Sp1 transcription factor. Mol Cell Biol, 19, 1961-72.
  4. Block KL, Shou Y, Poncz M (1996). An Ets/Sp1 interaction in the 5'-flanking region of the megakaryocyte-specific alpha IIb gene appears to stabilize Sp1 binding and is essential for expression of this TATA-less gene. Blood, 88, 2071-80.
  5. Boag AH, Young ID (1994). Increased expression of the 72-kd type IV collagenase in prostatic adenocarcinoma. Demonstration by immunohistochemistry and in situ hybridization. Am J Pathol, 144, 585-91.
  6. Boyle P, Ferlay J (2005). Cancer incidence and mortality in Europe. Ann Oncol, 16, 481-8. https://doi.org/10.1093/annonc/mdi098
  7. Collins HM, Morris TM, Watson SA (2001). Spectrum of matrix metalloproteinase expression in primary and metastatic colon cancer: relationship to the tissue inhibitors of metalloproteinases and membrane type-1 matrix metalloproteinase. Br J Cancer, 84, 1664-70. https://doi.org/10.1054/bjoc.2001.1831
  8. Elander N, Soderkvist P, Fransen K (2006). Matrix metalloproteinase (MMP) -1, -2, -3 and -9 promoter polymorphisms in colorectal cancer. Anticancer Res, 26, 791-5.
  9. Enping X, Maode L, Bingjian L, et al (2004). A single nucleotide polymorphism in the matrix metalloproteinase-2 promoter is associated with colorectal cancer. Biochem Biophys Res Commun, 324, 999-1003. https://doi.org/10.1016/j.bbrc.2004.09.150
  10. Fang, J, Shing Y, Wiederschain D, et al (2000). Matrix metalloproteinase-2 required for the switch to the angiogenic phenotype in a tumor model. Proc Natl Acad Sci USA, 97, 3884-9. https://doi.org/10.1073/pnas.97.8.3884
  11. Flavia MG, Alisson MO, Riccardo L, et al (2013). Matrix metalloproteinase (MMP-2) gene polymorphisms affect circulating MMP-2 levels in patients with migraine with aura. Gene, 512, 35-40. https://doi.org/10.1016/j.gene.2012.09.109
  12. Hemminki K, Czene K (2002). Attributable risk of familial cancer from the family cancer database. Cancer Epidemiol Biomarkers Prev, 12, 1638-44.
  13. Gail W, Kevan H (2012). Clinical Update: colon, rectal, and anal cancers. Seminars in Oncology Nursing, 28, 1-22.
  14. Grieu F, Li WQ, Iacopetta B (2004). Genetic polymorphisms in the MMP-2 and MMP-9 genes and breast cancer phenotype. Breast Cancer Res Treat, 8, 197-204.
  15. Heavey PM, McKenna D, Rowland IR (2004). Colorectal cancer and relationship between genes and the environment. Nutr Cancer, 48, 124-41. https://doi.org/10.1207/s15327914nc4802_2
  16. Itoh T, Tanioka M, Yoshida H, et al (1998). Reduced angiogenesis and tumor progression in gelatinase A-deficient mice. Cancer Res, 58, 1048-51.
  17. Jormsjo S, Ye S, Moritz J, et al (2000). 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, 86, 998-1003. https://doi.org/10.1161/01.RES.86.9.998
  18. Laurie AS, Sandra JT, William GS (2012). Matrix metalloproteinases: changing roles in tumor progression and metastasis. Am J Pathol, 181, 1895-9. https://doi.org/10.1016/j.ajpath.2012.08.044
  19. Lionel L, Abdelhabib S, Marc B, et al (2010). Crosstalk between T cells and bronchial fibroblasts obtained from asthmatic subjects involves CD40L/${\alpha}5{\beta}1$ interaction. Mol Immunol, 47, 2112-8. https://doi.org/10.1016/j.molimm.2010.03.011
  20. Loubaki L, Semlali A, Boisvert M, et al (2010). Crosstalk between T cells and bronchial fibroblasts obtained from asthmatic subjects involves CD40L/${\alpha}5{\beta}1$ interaction. Mol Immunol, 47, 2112-8. https://doi.org/10.1016/j.molimm.2010.03.011
  21. Poulsom R, Pignatelli M, Stetler-Stevenson WG, et al (1992). Stromal expression of 72 kda type IV collagenase (MMP-2) and TIMP-2 mRNAs in colorectal neoplasia. Am J Pathol, 141, 389-96.
  22. Margana RK, Boggaram V (1997). Functional analysis of surfactant protein B (SP-B) promoter:Sp1, Sp3, TTF-1, and HNF-3a transcription factors are necessary for lung cell-specific activation of SP-B gene transcription. J Biol Chem, 272, 3083-90. https://doi.org/10.1074/jbc.272.5.3083
  23. Maouche L, Lucien N, Cartron JP, Chretien S (1995). A CCACC motif mediates negative transcriptional regulation of the human erythropoietin receptor. Eur J Biochem, 233, 793-9. https://doi.org/10.1111/j.1432-1033.1995.793_3.x
  24. Parkin DM, Bray F, Ferlay J, Pisani P (2005). Global cancer statistics 2002. CA Cancer J Clin, 55, 74-108. https://doi.org/10.3322/canjclin.55.2.74
  25. Potter JD (1999). Colorectal cancer: molecules and populations. J Natl Cancer Inst, 91, 916-32. https://doi.org/10.1093/jnci/91.11.916
  26. Price SJ, Greaves DR, Watkins H (2001). Identification of novel functional genetic variants in the human matrix metalloproteinase-2 gene: role of Sp1 in allele specific transcriptional regulation. J Biol Chem, 276, 7549-58. https://doi.org/10.1074/jbc.M010242200
  27. Priyanka S, Tasleem AL, Rakesh K, Rama DM (2012). Association of promoter polymorphisms in MMP2 and TIMP2 with prostate cancer susceptibility in north India. Arch Med Res, 43, 117-24. https://doi.org/10.1016/j.arcmed.2012.02.006
  28. Qin H, Sun Y, Benveniste EN (1999). The transcription factor Sp1, Sp3 and AP-2 are required for constitutive matrix metalloproteinase-2 gene expression in astroglioma cells. J Biol Chem, 274, 29130-7. https://doi.org/10.1074/jbc.274.41.29130
  29. Roehe AV, Frazzon AP, Agnes G, et al (2007). Detection of polymorphisms in the promoter of matrix metalloproteinase 2 and 9 genes in breast cancer in South Brazil: preliminary results. Breast Cancer Res Treat, 102, 123-4. https://doi.org/10.1007/s10549-006-9273-1
  30. Singer CF, Marbaix E, Kokorine I, et al (1997). Paracrine stimulation of interstitial collagenase (MMP-1) in the human endometrium by interleukin 1 alpha and its dual block by ovarian steroids. Proc Natl Acad Sci (USA), 94, 10341-5. https://doi.org/10.1073/pnas.94.19.10341
  31. Rutter JL, Mitchell TI, Buttice G, et al (1998). A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res, 58, 5321-5.
  32. Sanger F, Nicklen S, Coulson A (1977). DNA sequencing with chain terminating inhibitor. Proc Natl Acad Sci USA, 74, 5463-7. https://doi.org/10.1073/pnas.74.12.5463
  33. Simon JP, David RG, Hugh W (2001). Identification of novel, functional genetic variants in the Human matrix metalloproteinase-2 gene. J Biol Chem, 276, 7549-58. https://doi.org/10.1074/jbc.M010242200
  34. Strongin AY, Collier I, Bannikov G, et al (1995). Mechanism of cell surface activation of 72-kDa type IV collagenase: isolation of the activated form of the membrane metalloprotease. J Biol Chem, 270, 5331-8. https://doi.org/10.1074/jbc.270.10.5331
  35. Woessner JF (1998). In Matrix metalloproteinases (Parks, W.C., and Mecham, R.P., eds) pp. 1-14, Academic Press, Inc., San Diego, CA.
  36. Yihong H, Li S, Naqiong W, et al (2009). Polymorphisms of MMP-2 gene are associated with systolic heart failure prognosis. Clin Chim Acta, 404, 119-23. https://doi.org/10.1016/j.cca.2009.03.030
  37. Yrjo TK, Mia A, Heikki V, et al (1999). Analysis of 16 different matrix metalloproteinases (MMP-1 to MMP-20) in the synovial membrane: different profiles in trauma and rheumatoid arthritis. Ann Rheum Dis, 58, 691-7. https://doi.org/10.1136/ard.58.11.691
  38. Zhou Y, Yu C, Miao X, et al (2004). Substantial reduction in risk of breast cancer associated with genetic polymorphisms in the promoters of the matrix metalloproteinase-2 and tissue inhibitors of the matrix metalloproteinase-2 genes. Carcinogenesis, 25, 399-404.

Cited by

  1. Lack of Association Between the Matrix Metalloproteinase-2 -1306C>T Polymorphism and Breast Cancer Susceptibility: a Meta-analysis vol.15, pp.12, 2014, https://doi.org/10.7314/APJCP.2014.15.12.4823
  2. The MMP-2 -735 C Allele is a Risk Factor for Susceptibility to Breast Cancer vol.15, pp.15, 2014, https://doi.org/10.7314/APJCP.2014.15.15.6199
  3. Down-regulated MYH11 Expression Correlates with Poor Prognosis in Stage II and III Colorectal Cancer vol.15, pp.17, 2014, https://doi.org/10.7314/APJCP.2014.15.17.7223
  4. MMP2 Gene-735 C/T and MMP9 gene -1562 C/T Polymorphisms in JAK2V617F Positive Myeloproliferative Disorders vol.16, pp.2, 2015, https://doi.org/10.7314/APJCP.2015.16.2.443
  5. Matrix Metalloproteinase-9 -1562T Allele and its Combination with MMP-2 -735 C Allele are Risk Factors for Breast Cancer vol.16, pp.3, 2015, https://doi.org/10.7314/APJCP.2015.16.3.1175
  6. Matrix Metalloproteinase-2 -1306 C>T Gene Polymorphism is Associated with Reduced Risk of Cancer: a Meta-analysis vol.16, pp.3, 2015, https://doi.org/10.7314/APJCP.2015.16.3.889
  7. Prognostic impact of polymorphism of matrix metalloproteinase-2 and metalloproteinase tissue inhibitor-2 promoters in breast cancer in Tunisia: case-control study vol.36, pp.5, 2015, https://doi.org/10.1007/s13277-014-3023-5
  8. Genetic variation of MMP-2(-735 C>T) and MMP-9(-1562 C>T) gene in risk of development of HAND and severity of HAND vol.18, pp.9, 2016, https://doi.org/10.1002/jgm.2897