The Role of Matrix Metalloproteinases Polymorphisms in Age-Related Macular Degeneration.
BACKGROUND
Matrix metalloproteinases (MMP) are responsible for the degradation of extracellular matrix components and play an important role in the physiological and pathological remodeling of tissues.


OBJECTIVE
To assess the impact of MMP-2 Rs2285053 (C->T), MMP-3 Rs3025039 (5A->6A), and MMP-9 Rs3918242 (C->T) single nucleotide polymorphism on the development of early age-related macular degeneration (AMD).


METHODS
The study group comprised 148 patients with AMD, and the control group enrolled 526 randomly selected persons. The genotyping of MMP-3 Rs3025039, MMP-2 Rs2285053, and MMP-9 Rs3918242 was performed by using the real-time PCR method.


RESULTS
The frequency of the MMP-2 (-735) C/T and MMP-3 (-1171) 5A/6A genotypes did not differ significantly between the patients with AMD and the control group, while the MMP-9 (-1562) C/C genotype was more frequently detected in patients with AMD than the control group (73.7% vs. 64.6%, p=0.048). Logistic regression analysis showed that the MMP-9 (-1562) C/C genotype increased the likelihood of developing early AMD (OR=1.51, 95% CI: 1.01-2.21; p=0.046). After the subdivision into the groups by age, a significant difference only in the frequency of the MMP-9 (-1562) C/C genotype was found comparing the AMD patients and the control group younger than 65 years (79.7% vs. 66.4%, p=0.039).


CONCLUSIONS
Only MMP-9 Rs3918242 (C->T) single nucleotide polymorphism was found to play a significant role in the development of AMD, and the effect was more pronounced at the age of less than 65 years.
Department of Ophthalmology, Neuroscience Institute, Lithuanian University of Health Sciences, Medical Academy , Kaunas , Lithuania .
Rasa
R
Liutkeviciene
Vaiva
V
Lesauskaite
Giedre
G
Sinkunaite-Marsalkiene
Dalia
D
Zaliuniene
Diana
D
Zaliaduonyte-Peksiene
Vaida
V
Mizariene
Olivija
O
Gustiene
Vytautas
V
Jasinskas
Giedre
G
Jariene
Abdonas
A
Tamosiunas
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D008268:Macular Degeneration / Q000201:enzymology / Q000235:genetics*; D008297:Male; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D019278:Matrix Metalloproteinase 3 / Q000235:genetics*; D020780:Matrix Metalloproteinase 9 / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction
C511768:MMP3 protein, human; D019278:Matrix Metalloproteinase 3; C522361:MMP2 protein, human; D020778:Matrix Metalloproteinase 2; C579270:MMP9 protein, human; D020780:Matrix Metalloproteinase 9
Age-related macular degeneration; gene polymorphism; matrix metalloproteinases