Abstract
AbstractPurpose 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.
Published Version
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