MMP-9 microsatellite polymorphism and susceptibility to exudative form of age-related macular degeneration

Nicola Fiotti, Marcella Pedio, Maurizio Battaglia Parodi, Nicola Altamura, Laura Uxa, Gianfranco Guarnieri, Carlo Giansante, Giuseppe Ravalico

Research output: Contribution to journalArticlepeer-review


Purpose: To assess if a polymorphism (PM) of the microsatellite (CA 13-27) in the promoter region of Matrix Metalloproteinase 9 (MMP-9) was associated with the exudative form of age-related macular degeneration (AMD) and to its risk factors. Methods: In 107 patients with AMD (AMD Group) and 223 age- and gender-matched controls (Control Group) with cataract, demographic, clinical data, and MMP-9 PM have been compared. Results: The comparison of allelic frequencies showed a different pattern of CA repeats between AMD and Control Group (P <0.00005), in particular the prevalence of longer microsatellites (> 22 CA repeats) was higher in AMD than in Control Group (O.R. 2.49, 95% CI 1.71-3.37, P <0.001). Analyses of genetic frequencies gave similar results. Logistic regression confirmed that 22 or more CA repeats are associated to AMD. The only association between MMP-9 PM and other risk factors for AMD was with BMI (Spearman's R = 0.298, P <0.00005): all patients with both microsatellites a 22 CA repeats were overweight or obese (χ2 test P <0.0005, compared to other genotypes). Conclusions: Longer microsatellites in the promoter of MMP-9 are associated to the exudative form of AMD and to body mass index, a well-known risk factor for the disease.

Original languageEnglish
Pages (from-to)272-277
Number of pages6
JournalGenetics in Medicine
Issue number4
Publication statusPublished - Apr 2005


  • Age-related macular degeneration
  • Body mass index
  • Choroidal neovascularization
  • MMP-9
  • Weight

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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