Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma.
OBJECTIVE
To investigate possible genetic associations of matrix metalloproteinase-1 (MMP1) and MMP3 gene polymorphisms with exfoliation syndrome (XFS) with (XFS/+G) and without (XFS/-G) glaucoma in a cohort of Greek patients.


METHODS
A total of 182 unrelated Greek patients with XFS, including 92 patients with XFS/+G, and 214 unrelated age- and gender-matched controls were enrolled in the study. MMP1 -1607 1G/2G (rs1799750) and MMP3 -1171 5A/6A (rs3025058) polymorphisms were determined using standard PCR/restriction fragment length polymorphism methods. Differences in allele and genotype distributions were analyzed using logistic regression.


RESULTS
The distribution of genotypes and alleles in MMP1 and MMP3 polymorphisms was not significantly different between cases with exfoliation syndrome, with or without glaucoma, and controls. However, the allele contrast for the MMP1 variant showed a trend for a significant association with XFS/-G (Odds Ratio=1.47 [1.03-2.10]), since after correction for multiple comparisons, this association was no longer statistically significant.


CONCLUSIONS
Our study provided some evidence of a possible role of the MMP1 variant in the development of exfoliation syndrome in Greek patients.
Tsironi
Evangelia E
EE
Department of Ophthalmology, School of Medicine, University of Thessaly, Larissa, Greece. e_tsironi@hotmail.com
Pefkianaki
Maria
M
Tsezou
Aspasia
A
Kotoula
Maria G
MG
Dardiotis
Efthimios
E
Almpanidou
Pavlina
P
Papathanasiou
Afroditi A
AA
Rodopoulou
Paraskevi
P
Chatzoulis
Dimitrios Z
DZ
Hadjigeorgiou
Georgios M
GM
D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D017889:Exfoliation Syndrome / Q000150:complications* / Q000201:enzymology* / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005901:Glaucoma / Q000150:complications* / Q000201:enzymology* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D020781:Matrix Metalloproteinase 1 / Q000235:genetics*; D019278:Matrix Metalloproteinase 3 / Q000235:genetics*; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
C511768:MMP3 protein, human; D019278:Matrix Metalloproteinase 3; C522360:MMP1 protein, human; D020781:Matrix Metalloproteinase 1