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Published on: July 14, 2016
MMP-9 microsatellite polymorphism and susceptibility to exudative form of age-related macular degeneration
Nicola Fiotti1, Marcella Pedio, Maurizio Battaglia Parodi
1Department of Clinical, Morphological and Technological Sciences, University of Trieste, Trieste, Italy. fiotti@units.it
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 (> 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).
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.
Insights
Longer microsatellites in the Matrix Metalloproteinase 9 (MMP-9) gene promoter are linked to exudative age-related macular degeneration (AMD). This genetic variation is also associated with higher body mass index, a known AMD risk factor.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Age-related macular degeneration (AMD) is a leading cause of vision loss.
- The exudative form of AMD is particularly aggressive.
- Matrix Metalloproteinase 9 (MMP-9) plays a role in tissue remodeling and inflammation.
Purpose of the Study:
- To investigate the association between a specific polymorphism in the MMP-9 promoter and exudative AMD.
- To explore the relationship between this MMP-9 polymorphism and known AMD risk factors.
Main Methods:
- Case-control study comparing 107 AMD patients and 223 controls.
- Analysis of microsatellite (CA(13-27)) polymorphism in the MMP-9 promoter region.
- Comparison of allelic and genetic frequencies, logistic regression, and correlation analyses.
Main Results:
- A significant difference in CA repeat patterns was observed between AMD patients and controls (P < 0.00005).
- Longer microsatellites (≥22 CA repeats) were more prevalent in the AMD group (O.R. 2.49).
- MMP-9 polymorphism was associated with body mass index (BMI), with longer microsatellites linked to overweight/obesity.
Conclusions:
- Microsatellite length variations in the MMP-9 promoter are associated with exudative AMD.
- The MMP-9 polymorphism is linked to BMI, a recognized risk factor for AMD.