Skip to main content

Advertisement

SpringerLink
Log in

MMP-1 polymorphism and its relationship to pathological processes

  • Review
  • Published:
Journal of Biosciences Aims and scope Submit manuscript

Abstract

Matrix metalloproteinases (MMPs) are a family of zinc (Zn)-dependent endopeptidases that are collectively capable of cleaving virtually all extracellular matrix (ECM) substrates and play an important role in diverse physiological and pathological processes. The activity of MMPs is regulated at multiple levels. The transcriptional regulation of MMP appears to represent the key step in MMP regulation. There are diverse types of MMPs that differ structural and functionally. MMP-1 is the most ubiquitously expressed interstitial collagenase and has a prominent role in initial cleavage of the ECM. The level of MMP-1 expression can be infl uenced by different single-nucleotide polymorphisms (SNPs) in the promoter region. A functional polymorphism at position −1607 has been shown to alter the transcriptional activity of MMP-1 and was associated with diverse pathological processes. The aim of our review was to discuss some topics related to MMP in physiological and pathological processes, with a focus on MMP-1 polymorphism.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Abbreviations

ECM:

extracellular matrix

MMP:

matrix metalloproteinase

MMPIs:

inhibitors of different MMPs

PEA-3:

polyoma early promoter activator-3

SNP:

single-nucleotide polymorphism

TIMP:

tissue inhibitors of MMP

Zn:

zinc

References

  • Alberts B 1997 Biologia molecular da célula 3a ed (Porto Alegre-RS: Artes Médicas)

    Google Scholar 

  • Angel P, Imagawa M, Chiu R, Angel P, Imagawa M, Chiu R, Stein B, Imbra R J, Rahmsdorf H J, Jonat C, Herrlich P and Karin M 1987 Phorbol ester-inducible genes contain a common cis element recognized by a TPA-modulated trans-acting factor; Cell 49 729–739

    Article  PubMed  CAS  Google Scholar 

  • Baker A H, Edwards D R and Murphy G 2002 Metalloproteinase inhibitors: biological actions and therapeutic opportunities; J. Cell. Sci. 115 3719–3727

    Article  PubMed  CAS  Google Scholar 

  • Barlas I O, Sezgin M, Erdal M E, Sahin G, Ankarali H C, Altintas Z M and Türkmen E 2009 Association of (−1,607) 1G/2G polymorphism of matrix metalloproteinase-1 gene with knee osteoarthritis in the Turkish population (knee osteoarthritis and MMPs gene polymorphisms); Rheumatol. Int. 29 383–388

    Article  PubMed  CAS  Google Scholar 

  • Basset P, Okada A, Chenard M P, Kannan R, Stoll I, Anglard P, Bellocq J P and Rio M C 1997 Matrix metalloproteinases as stromal effectors of human carcinoma progression: therapeutic implications; Matrix Biol. 15 535–541

    Article  PubMed  CAS  Google Scholar 

  • Birkedal-Hansen H 1993 Role of matrix metalloproteinases in human periodontal diseases; J. Periodontol. 64 474–484

    PubMed  CAS  Google Scholar 

  • Bornstein P and Sage E H 2002 Matricellular proteins: extracellular modulators of cell function; Curr. Opin. Cell Biol. 14 608–616

    Article  PubMed  CAS  Google Scholar 

  • Brinckerhoff C E, Rutter J L and Benbow U 2000 Interstitial collagenases as markers of tumor progression; Clin. Cancer Res. 6 4823–4830

    PubMed  CAS  Google Scholar 

  • Cao Z G and Li C Z 2006 A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter enhances oral squamous cell carcinoma susceptibility in a Chinese population; Oral Oncol. 42 32–38

    Article  PubMed  Google Scholar 

  • Cauwe B, Van den Steen P E and Opdenakker G 2007 The biochemical, biological, and pathological kaleidoscope of cell surface substrates processed by matrix metalloproteinases; Crit. Rev. Biochem. Mol. Biol. 42 113–185

    Article  PubMed  CAS  Google Scholar 

  • de Souza A P, Trevilatto P C, Scarel-Caminaga R M, Brito R B and Line S R 2003 MMP-1 promoter polymorphism: association with chronic periodontitis severity in a Brazilian population; J. Clin. Periodontol. 30 154–158

    Article  PubMed  Google Scholar 

  • Drzewoski J, Sliwińska A, Przybyłowska K, Sliwiński T, Kasznicki J, Zurawska-Klis M, Kosmalski and Majsterek I 2008 Gene polymorphisms and antigen levels of matrix metalloproteinase-1 in type 2 diabetes mellitus coexisting with coronary heart disease; Kardiol. Pol. 66 1042–1048

    PubMed  Google Scholar 

  • Egeblad M and Werb Z 2002 New functions for the matrix metalloproteinases in cancer progression; Nat. Rev. Cancer 2 161–174

    Article  PubMed  CAS  Google Scholar 

  • Flex A, Gaetani E, Angelini F, Sabusco A, Chillà C, Straface G, Biscetti F, Pola P, Castellot J J Jr and Pola R 2007 Proinfl ammatory genetic profi les in subjects with peripheral arterial occlusive disease and critical limb ischemia; J. Int. Med. 262 124–130

    Article  CAS  Google Scholar 

  • Gaire M, Magbanua Z, McDonnell S, McNeil L, Lovett D H and Matrisian L M 1994 Structure and expression of the human gene for the matrix metalloproteinase matrilysin; J. Biol. Chem. 269 2032–2040

    PubMed  CAS  Google Scholar 

  • Garner C and Slatkin M 2003 On selecting markers for association studies: patterns of linkage disequilibrium between two and three diallelic loci; Genet. Epidemiol. 24 57–67

    Article  PubMed  Google Scholar 

  • Godoy-Santos A L, D’Elia C O, Teixeira W J, Cabrita H B and Camanho G L 2009 Aseptic loosening of total hip arthroplasty: preliminary genetic investigation; J. Arthroplast. 24 297–302

    Article  Google Scholar 

  • Horne B D, May H T, Anderson J L, Kfoury A G, Bailey B M, McClure B S, Renlund D G, Lappé D L, Carlquist J F, Fisher P W, Pearson R R, Bair T L, Adams T D and Muhlestein J B 2008 Usefulness of routine periodic fasting to lower risk of coronary artery disease in patients undergoing coronary angiography; Am. J. Cardiol. 102 814–819

    Article  PubMed  Google Scholar 

  • Johnsen M, Lund L R, Romer J, Almholt K and Dano K 1998 Cancer invasion and tissue remodeling: common themes in proteolytic matrix degradation; Curr. Opin. Cell Biol. 10 667–671

    Article  PubMed  CAS  Google Scholar 

  • Jurajda M, Muzík J, Izakovicová Hollá L and Vácha J 2002 A newly identifi ed single nucleotide polymorphism in the promoter of the matrix metalloproteinase-1 gene; Mol. Cell. Probes 16 63–66

    Article  PubMed  CAS  Google Scholar 

  • Ju W, Kim J W, Park N H, Song Y S, Kim S C, Kang S B and Lee H P 2007 Matrix metalloproteinase-1 promoter polymorphism and epithelial ovarian cancer: does ethnicity matter?; J. Obstet. Gynaecol. Res. 33 155–160

    Article  PubMed  CAS  Google Scholar 

  • Kanamori Y, Matsushima M, Minaguchi T, Kobayashi K, Sagae S, Kudo R, Terakawa N and Nakamura Y 1999 Correlation between expression of the matrix metalloproteinase-1 gene in ovarian cancers and an insertion/deletion polymorphism in its promoter region; Cancer Res. 59 4225–4227

    PubMed  CAS  Google Scholar 

  • Kerkela E and Saarialho-Kere U 2003 Matrix metalloproteinases in tumor progression: focus on basal and squamous cell skin cancer; Exp. Dermatol. 12 109–125.

    Article  PubMed  CAS  Google Scholar 

  • Kerrigan J J, Mansell J P and Sandy J R 2000 Matrix turnover; J. Orthod. 27 227–233

    PubMed  CAS  Google Scholar 

  • Koh Y S, Chang K, Kim P J, Seung K B, Baek S H, Shin W S, Lim S H, Kim J H and Choi K B 2007 A close relationship between functional polymorphism in the promoter region of matrix metalloproteinase-9 and acute myocardial infarction; Int. J. Cardiol. 127 430–432

    Article  PubMed  Google Scholar 

  • Kuo H P, Wang Y M, Wang C H, He C C, Lin S M, Lin H C, Liu C Y, Huang K H, Hsieh L L and Huang CD 2008 Matrix metalloproteinase-1 polymorphism in Taiwanese patients with endobronchial tuberculosis; Tuberculosis 88 262–267

    Article  PubMed  CAS  Google Scholar 

  • Leite M F, Santos M C, de Souza A P and Line S R 2008 Osseointegrated implant failure associated with MMP-1 promotor polymorphisms (−1607 and −519); Int. J. Oral Maxillofac. Implants 23 653–658

    PubMed  Google Scholar 

  • Lièvre A, Milet J, Carayol J, Le Corre D, Milan C, Pariente A, Nalet B, Lafon J, Faivre J, Bonithon-Kopp C, Olschwang S, Bonaiti-Pellié C and Laurent-Puig P 2006 Genetic polymorphisms of MMP1, MMP3 and MMP7 gene promoter and risk of colorectal adenoma; BMC Cancer 6 270

    Article  PubMed  Google Scholar 

  • Lu Z, Cao Y, Wang Y, Zhang Q, Zhang X, Wang S, Li Y, Xie H, Jiao B and Zhang J 2007 Polymorphisms in the matrix metalloproteinase-1, 3, and 9 promoters and susceptibility to adult astrocytoma in northern China; J. Neurooncol. 85 65–73

    Article  PubMed  CAS  Google Scholar 

  • Massarotti M, Marchesoni A, Biondi M L and Marasini B 2002 Polymorphism in the matrix metalloproteinase-1 promoter gene and severity of rheumatoid arthritis; J. Rheumatol. 29 2241–2242

    PubMed  Google Scholar 

  • Massova I, Kotra L P, Fridman R and Mobashery S 1998 Matrix metalloproteinases: structures, evolution, and diversifi cation; FASEB J. 12 1075–1095

    PubMed  CAS  Google Scholar 

  • Matrisian L 1990 Metalloproteinases and their inhibitors in matrix remodeling; Trends Genet. 6 121–125

    Article  PubMed  CAS  Google Scholar 

  • McCready J, Broaddus W C, Sykes V and Fillmore H L 2005 Association of a single nucleotide polymorphism in the matrix metalloproteinase-1 promoter with glioblastoma; Int. J. Cancer 117 781–785

    Article  PubMed  CAS  Google Scholar 

  • Meng N, Li Y, Zhang H and Sun X F 2008 RECK, a novel matrix metalloproteinase regulator; Histol. Histopathol. 23 1003–1010

    PubMed  CAS  Google Scholar 

  • Murphy G and Knäuper V 1997 Relating matrix metalloproteinase structure to function: why the “hemopexin” domain?; Matrix Biol. 15 511–518

    Article  PubMed  CAS  Google Scholar 

  • Nasr H B, Mestiri S, Chahed K, Bouaouina N, Gabbouj S, Jalbout M and Couchane L 2007 Matrix metalloproteinase-1 (−1607) 1G/2G and −9 (−1562) C/T promoter polymorphisms: susceptibility and prognostic implications in nasopharyngeal carcinomas; Clin. Chim. Acta 384 57–63

    Article  PubMed  Google Scholar 

  • Nho Y K, Ha E, Yu K I, Chung J H, Wook N C, Chung I S, Lee M Y and Shin D H 2008 Matrix metalloproteinase-1 promoter is associated with body mass index in Korean population with age greater or equal to 50 years; Clin. Chim. Acta 396 14–17

    Article  PubMed  CAS  Google Scholar 

  • Nishizawa R, Nagata M, Noman A A, Kitamura N, Fujita H, Hoshina H, Kubota T, Itagaki M, Shingaki S, Ohnishi M, Kurita H, Katsura K, Saito C, Yoshie H and Takagi R 2007 The 2G allele of promoter region of matrix metalloproteinase-1 as an essential pre-condition for the early onset of oral squamous cell carcinoma; BMC Cancer 7 187

    Article  PubMed  Google Scholar 

  • Orbe J, Fernandez L, Rodriguez J A, Rabago G, Belzunce M, Monasterio A, Roncal C and Páramo J A 2003 Different expression of MMPs/TIMP-1 in human atherosclerotic lesions. Relation to plaque features and vascular bed; Atherosclerosis 170 269–276

    Article  PubMed  CAS  Google Scholar 

  • Page-McCaw A, Ewald A J and Werb Z 2007 Matrix metalloproteinases and the regulation of tissue remodeling; Nat. Rev. Mol. Cell Biol. 8 221–233

    Article  PubMed  CAS  Google Scholar 

  • Pirhan D, Atilla G, Emingil G, Sorsa T, Tervahartiala T and Berdeli A 2008 Effect of MMP-1 promoter polymorphisms on GCF MMP-1 levels and outcome of periodontal therapy in patients with severe chronic periodontitis; J. Clin. Periodontol. 35 862–870

    Article  PubMed  CAS  Google Scholar 

  • Ra H J and Parks W C 2007 Control of matrix metalloproteinase catalytic activity; Matrix Biol. 26 587–596

    Article  PubMed  CAS  Google Scholar 

  • Rutter J L, Mitchell T I, Buttice G, Meyers J, Gusella J F, Ozelius L J and Brinckerhoff C E 1998 A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription; Cancer Res. 58 5321–5325

    PubMed  CAS  Google Scholar 

  • Santos M C, Campos M I, Souza A P, Trevilatto P C and Line S R 2004 Analysis of MMP-1 and MMP-9 promoter polymorphisms in early osseointegrated implant failure; Int. J. Oral Maxillofac. Implants 19 38–43

    PubMed  Google Scholar 

  • Shapiro S D 1998 Matrix metalloproteinase degradation of extracellular matrix: biological consequences; Curr. Opin. Cell Biol. 10 602–608

    Article  PubMed  CAS  Google Scholar 

  • Shimizu Y, Kondo S, Shirai A, Furukawa M and Yoshizaki T 2008 A single nucleotide polymorphism in the matrix metalloproteinase-1 and interleukin-8 gene promoter predicts poor prognosis in tongue cancer; Auris Nasus Larynx 35 381–389

    Article  PubMed  Google Scholar 

  • Song Y Q, Ho D W, Karppinen J, Kao P Y, Fan B J, Luk K D, Yip S P, Leong J C, Cheah K S, Sham P, Chan D and Cheung K M 2008 Association between promoter −1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese; BMC Med. Genet. 9 38

    Article  PubMed  Google Scholar 

  • Springman E B, Angleton E L, Birkedal-Hansen H and Van Wart H E 1990 Multiple modes of activation of latent human fi broblast collagenase: evidence for the role of a Cys 73 active-site zinc complex in latency and a “cysteine switch” mechanism for activation; Proc. Natl. Acad. Sci. USA 87 364–368

    Article  PubMed  CAS  Google Scholar 

  • Stetler-Stevenson W G 2008 Tissue inhibitors of metalloproteinases in cell signaling: metalloproteinase-independent biological activities; Sci. Signal 1 6

    Google Scholar 

  • Su L, Zhou W, Asomaning K, Lin X, Wain J C, Lynch T J, Liu G and Christiani D C 2006 Genotypes and haplotypes of matrix metalloproteinase 1, 3 and 12 genes and the risk of lung cancer; Carcinogenesis 27 1024–1029

    Article  PubMed  CAS  Google Scholar 

  • Tasci A I, Tugcu V, Ozbek E, Ozbay B, Simsek A and Koksal V 2008 A single-nucleotide polymorphism in the matrix metalloproteinase-1 promoter enhances bladder cancer susceptibility; BJU Int. 101 503–507

    PubMed  CAS  Google Scholar 

  • Terry C F, Loukaci V and Green F R 2000 Cooperative infl uence of genetic polymorphisms on interleukin 6 transcriptional regulation; J. Biol. Chem. 275 18138–18144

    Article  PubMed  CAS  Google Scholar 

  • Thompson M W, Mcinnes R R and Willard H F 1991 Genetics in medicine 5th edition (Pensylvania, Philadelphia: Thompson and Thompson)

    Google Scholar 

  • Tuuttila A, Morgunova E, Bergmann U, Lindqvist Y, Maskos K, Fernandez-Catalan C, Bode W, Tryggvason K and Schneider G 1998 Three-dimensional structure of human tissue inhibitor of metalloproteinases-2 at 2.1 A resolution; J. Mol. Biol. 284 1133–1140

    Article  PubMed  CAS  Google Scholar 

  • Vairaktaris E, Yapijakis C, Derka S, Serefoglou Z, Vassiliou S, Nkenke E, Ragos V, Vylliotis A, Spyridonidou S, Tsigris C, Yannopoulos A, Tesseromatis C, Neukam F W and Patsouris E 2007 Association of matrix metalloproteinase-1 (−1607 1G/2G) polymorphism with increased risk for oral squamous cell carcinoma; Anticancer Res. 27 464

    Google Scholar 

  • Van Wart H E and Birkedal-Hansen H 1990 The cysteine switch: a principle of regulation of metalloproteinase activity with potential applicability to the entire matrix metalloproteinase gene family; Proc. Natl. Acad. Sci. USA 87 5578–5582

    Article  PubMed  Google Scholar 

  • Vincenti M P, White L A, Schroen D J, Benbow U and Brinckerhoff C E 1996 Regulating expression of the gene for matrix metalloproteinase-1 (collagenase): mechanisms that control enzyme activity, transcription and mRNA stability; Crit. Ver. Eukaryot. Gene Expr. 6 391–411

    CAS  Google Scholar 

  • Wiencke K, Louka A S, Spurkland A, Vatn M, Schrumpf E and Boberg K M 2004 Association of matrix metalloproteinase-1 and -3 promoter polymorphisms with clinical subsets of Norwegian primary sclerosing cholangitis patients; J. Hepatol. 41 209–214

    Article  PubMed  CAS  Google Scholar 

  • Woessner J F Jr 1991 Matrix metalloproteinases and their inhibitors in connective tissue remodeling; FASEB J. 8 2145–2154

    Google Scholar 

  • Woessner J F Jr 1998 The matrix metalloproteinase family; in Matrix metalloproteinase (eds) W C Parks and R P Mechan (California: Academic Press) pp 300–356

    Google Scholar 

  • Woo M, Park K, Nam J and Kim J C 2007 Clinical implications of matrix metalloproteinase-1, -3, -7, -9, -12, and plasminogen activator inhibitor-1 gene polymorphisms in colorectal cancer; J. Gastroenterol. Hepatol. 22 1064–1070

    Article  PubMed  CAS  Google Scholar 

  • Yan C and Boyd D D 2007 Regulation of matrix metalloproteinase gene expression; J. Cell Physiol. 211 19–26

    Article  PubMed  CAS  Google Scholar 

  • Ye S 2000 Polymorphism in matrix metalloproteinase gene promoters: implication in regulation of gene expression and susceptibility of various diseases; Matrix Biol. 19 623–639

    Article  PubMed  CAS  Google Scholar 

  • Ye S, Patodi N, Walker-Bone K, Reading I, Cooper C and Dennison E 2007 Variation in the matrix metalloproteinase-3, -7, -12 and -13 genes is associated with functional status in rheumatoid arthritis; Int. J. Immunogenet. 34 81–85

    Article  PubMed  CAS  Google Scholar 

  • Zinzindohoué F, Lecomte T, Ferraz J M, Houllier A M, Cugnenc P H, Berger A, Blons H and Laurent-Puig P 2005 Prognostic signifi cance of MMP-1 and MMP-3 functional promoter polymorphisms in colorectal cancer; Clin. Cancer Res. 11 594–599

    PubMed  Google Scholar 

  • Ziober B L, Turner M A, Palefsky J M, Banda M J and Kramer R H 2000 Type I collagen degradation by invasive oral squamous cell carcinoma; Oral Oncol. 36 365–372

    Article  PubMed  CAS  Google Scholar 

  • Zucker S and Vacirca J 2004 Role of matrix metalloproteinases (MMPs) in colorectal cancer; Cancer Metastasis Rev. 23 101–117

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Centro Politécnico, Rua Francisco H. dos Santos, Jd. das Américas, University Federal of Parana, 81531-990, Curitiba PR, Brazil

    P. A. Arakaki & M. C. L. G. Santos

  2. Faculty of Dentistry of Piracicaba, University of Campinas, Av. Limeira, 901, 13414-903, CP 52, Piracicaba-SP, Brazil

    M. R. Marques

Authors
  1. P. A. Arakaki
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. M. R. Marques
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. C. L. G. Santos
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to M. C. L. G. Santos.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Arakaki, P.A., Marques, M.R. & Santos, M.C.L.G. MMP-1 polymorphism and its relationship to pathological processes. J Biosci 34, 313–320 (2009). https://doi.org/10.1007/s12038-009-0035-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12038-009-0035-1

Keywords

Search

Navigation