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Genet Med. 2005 Apr;7(4):272-7.

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

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Department of Clinical, Morphological and Technological Sciences, University of Trieste, Trieste, Italy.



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.


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.


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 (> or = 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 > or = 22 CA repeats were overweight or obese (chi2 test P < 0.0005, compared to other genotypes).


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.

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