Purpose Matrix metalloproteinases (MMPs) have been extensively studied as primary open-angle glaucoma (POAG) risk factors. Recently, several single nucleotide polymorphisms (SNPs) for MMPs encoding genes have been reported in POAG patients. Especially, the −1607 1G/2G polymorphism present in promoter region of MMP-1 gene may affect its expression level. The aim of this study was to investigate the expression level of MMP-1polymorphicvariants in POAG patients group.

Methods In the present case-control study we examined group of 232 POAG unrelated Caucasian patients (mean age 70±14) and 253 age, sex matched controls (mean age 67±16). The −1607 1G/2G MMP1 gene polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The odds ratios (ORs) and 95% confidence intervals (CIs) for each genotype and allele were calculated. The expression level of the −1607 1G/2G polymorphic variants of MMP1 gene was measured by real time q-PCR.

Results A statistically significant increase of the 2G/2G genotype (OR 1.35; 95% CI 1.05-1.67; P = 0.006) as well as the 2G allele frequency (OR 1.20; 95% CI 1.05-1.37; P = 0.006) of MMP1 was found in POAG patients as compared to healthy controls. We observed statistically significant 8,32 fold higher expression level of the 2G/2G genotype as compared to the 1G/1G wild genotype (P < 0.001), either.

Conclusion In conclusion, we suggest that the expression of the −1607 2G/2G genotype of MMP-1 may be considered as an important risk factor associated with primary open-angle glaucoma. This work was supported by grants N N402 375838 and N N402 248936 from Polish Ministry of Science and Higher Education.