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

[摘要] Purpose: To investigate possible geneticassociations of matrix metalloproteinase-1 (MMP1) and MMP3gene polymorphisms with exfoliation syndrome (XFS) with (XFS/+G) andwithout (XFS/-G) glaucoma in a cohort of Greek patients. Methods: A total of 182 unrelated Greekpatients with XFS, including 92 patients with XFS/+G, and 214 unrelatedage- 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 fragmentlength polymorphism methods. Differences in allele and genotypedistributions were analyzed using logistic regression. Results: The distribution of genotypesand alleles in MMP1 and MMP3 polymorphisms was notsignificantly different between cases with exfoliation syndrome, withor without glaucoma, and controls. However, the allele contrast for theMMP1 variant showed a trend for a significant association withXFS/-G (Odds Ratio=1.47 [1.03–2.10]), since after correction formultiple comparisons, this association was no longer statisticallysignificant. Conclusions: Our study provided someevidence of a possible role of the MMP1 variant in thedevelopment of exfoliation syndrome in Greek patients.

[学科分类] 生物化学/生物物理