Abstract
Purpose: :
Primary open angle glaucoma (POAG) is considered as a main cause of irreversible blindness worldwide. Matrix metalloproteinases (MMPs) and their inhibitors (TIMPs) have been extensively studied as a POAG risk factors. Recently, several single nucleotide polymorphisms (SNPs) for MMPs and TIMPs encoding genes have been reported in POAG patients.
Methods: :
In the present study we examined group of 552 unrelated Caucasian subjects consist of 199 POAG patients (68 male and 131 female; mean age 70±14) and 253 controls (72 male and 181 female; mean age 67±18). The MMP1 –1607 1G/2G and TIMP1 372 T/C gene polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
Results: :
A statistically significant increase of the 2G/2G genotype (OR 1.74; 95% CI 1.06-2.85; p = 0.018) as well as 2G allele frequency (OR 1.34; 95% CI 1.03-1.75; p = 0.016) of MMP1 in POAG patients in comparison to healthy controls were estimated. There were not differences of the genotype and allele distributions and odds ratios of the TIMP1 T/C polymorphism between patients and controls group. We also did not find any link of TIMP1 with MMP1 gene-gene interaction and a risk of POAG occurrence.
Conclusions: :
In conclusion, we suggest that the –1607 1G/2G polymorphism of MMP1 gene may be considered as an important risk factor associated with primary open angle glaucoma in a Polish population.
Keywords: genetics • gene screening • candidate gene analysis