Polymorphism in matrix metalloproteinase gene promoters: implication in regulation of gene expression and susceptibility of various diseases

Matrix Biol. 2000 Dec;19(7):623-9. doi: 10.1016/s0945-053x(00)00102-5.


The matrix metalloproteinases (MMPs) can degrade a range of extracellular matrix proteins and have been implicated in connective tissue destruction and remodelling associated with cancer invasion and metastasis, cartilage destruction in arthritis, atherosclerotic plaque rupture, and the development of aneurysms. Recently, naturally occurring sequence variation has been detected in the promoter of a number of MMP genes. These genetic polymorphisms have been shown to have allele-specific effects on the transcriptional activities of MMP gene promoters, and to be associated with susceptibility to coronary heart disease, aneurysms and cancers. These findings indicate that variation in the MMP genes may contribute to inter-individual differences in susceptibility to these common, complex diseases, likely through effects on the balance between the synthesis and degradation of extracellular matrix proteins.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Disease Susceptibility
  • Gene Expression Regulation, Enzymologic
  • Humans
  • Matrix Metalloproteinase 1 / genetics
  • Matrix Metalloproteinase 12
  • Matrix Metalloproteinase 9 / genetics
  • Matrix Metalloproteinases / genetics*
  • Metalloendopeptidases / genetics
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic*


  • Matrix Metalloproteinases
  • Metalloendopeptidases
  • Matrix Metalloproteinase 9
  • MMP12 protein, human
  • Matrix Metalloproteinase 12
  • Matrix Metalloproteinase 1