Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma

Department of Neurology, School of Medicine, University of Thessaly, Larissa, GreecePurpose: To investigate possible genetic associations of matrix metalloproteinase-1 (MMP1) and MMP3 genepolymorphisms with exfoliation syndrome (XFS) with (XFS/+G) and without (XFS/-G) glaucoma in a cohort of Greekpatients.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 differentbetween cases with exfoliation syndrome, with or without glaucoma, and controls. However, the allele contrast for theMMP1 variant showed a trend for a significant association with XFS/-G (Odds Ratio=1.47 [1.03–2.10]), since aftercorrection 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 exfoliationsyndrome in Greek patients.