Evaluation of MMP-1 gene expression variants as a risk factors of primary open-angle glaucoma
Article first published online: 11 AUG 2011
2011 Acta Ophthalmologica
Special Issue: Abstracts from the 2011 European Association for Vision and Eye Research Conference
Volume 89, Issue Supplement s248, page 0, September 2011
How to Cite
MAJSTEREK, I., MARKIEWICZ, L., PRZYBYLOWSKA, K., GACEK, M., KAMINSKA, A., SZAFLIK, J. and SZAFLIK, J. (2011), Evaluation of MMP-1 gene expression variants as a risk factors of primary open-angle glaucoma. Acta Ophthalmologica, 89: 0. doi: 10.1111/j.1755-3768.2011.265.x
- Issue published online: 11 AUG 2011
- Article first published online: 11 AUG 2011
- Cited By
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.