MMP-9 microsatellite polymorphism and susceptibility to exudative form of age-related macular degeneration.
OBJECTIVE
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.
Fiotti
Nicola
N
Department of Clinical, Morphological and Technological Sciences, University of Trieste, Trieste, Italy. fiotti@units.it
Pedio
Marcella
M
Battaglia Parodi
Maurizio
M
Altamura
Nicola
N
Uxa
Laura
L
Guarnieri
Gianfranco
G
Giansante
Carlo
C
Ravalico
Giuseppe
G
D000368:Aged; D015992:Body Mass Index; D017931:DNA Primers; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D016015:Logistic Models; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D020780:Matrix Metalloproteinase 9 / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics; D012307:Risk Factors
D017931:DNA Primers; D020780:Matrix Metalloproteinase 9