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Updated: May 10, 2026
Optimization of the Retinal Vein Occlusion Mouse Model to Limit Variability
Published on: August 6, 2021
Association of MMP2-1306C/T and TIMP2G-418C polymorphisms in retinal vein occlusion
Huseyin Ortak1, Selim Demir, Omer Ateş
1Gaziosmanpasa University Faculty of Medicine, Department of Ophthalmology, Tokat, Turkey. huseyin.ortak@hotmail.com
Abstract:
Matrix metalloproteinases (MMPs) are large groups of zinc-dependent proteases that play an important role in many diseases and pathological processes such as cancer, angiogenesis, atherosclerosis, and vascular disease. Also, it was found that the expression of MMPs was high during the initial period of thrombosis in a rat model of traumatic deep vein thrombosis. Moreover, the presence of metalloproteinase activity and endogenous inhibitor activity in vitrectomy samples are associated with neovascularization of several retinal diseases such as exudative age related maculopathy, proliferative diabetic retinopathy, and central retinal vein occlusion. In this study, we aimed to investigate the possible association of the matrix metalloproteinase 2-1306C/T (rs 243865) and tissue inhibitors of matrix metalloproteinase 2 G-418C (rs 8179090) polymorphisms with the risk of retinal vein occlusion (RVO). Genomic DNA was extracted from peripheral leukocytes from ethylenediaminetetraacetic acid anticoagulated blood. Genotyping of the MMP2-1306C/T and TIMP2G-418C polymorphisms were performed using real-time polymerase chain reaction. The MMP2-1306 T allele carriers (CT + TT) had a significantly increased risk of RVO compared with the CC homozygotes (p < 0.001, odds ratio = 4.78; 95% CI = 2.85-8.09). After adjusting for hypertension, diabetes, hypertriglyceridemia, and hypercholesterolemia, MMP2-1306 T allele carriers (CT + TT) also had a significantly increased risk of RVO (B = 1.453; p < 0.001; odds ratio = 4.275; 95% CI:2.529-7.224). MMP2-1306C/T, but not TIMP2G-418C, gene variants are a risk factor for the development of retinal vein occlusion.
Insights
The MMP2-1306C/T gene variant significantly increases the risk of developing retinal vein occlusion (RVO). This finding highlights a potential genetic predisposition to RVO, independent of common risk factors.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Matrix metalloproteinases (MMPs) are crucial in various diseases, including cancer and vascular conditions.
- MMP expression is elevated during thrombosis and linked to neovascularization in retinal diseases.
- Retinal vein occlusion (RVO) is a significant cause of vision loss.
Purpose of the Study:
- To investigate the association between matrix metalloproteinase 2 (MMP2) and tissue inhibitor of metalloproteinase 2 (TIMP2) gene polymorphisms and the risk of RVO.
- Specifically, to analyze the MMP2-1306C/T (rs 243865) and TIMP2G-418C (rs 8179090) polymorphisms.
Main Methods:
- Genomic DNA was extracted from peripheral blood leukocytes.
- Genotyping of MMP2-1306C/T and TIMP2G-418C polymorphisms was performed using real-time polymerase chain reaction.
- Statistical analysis was conducted to determine the association with RVO risk, adjusting for covariates.
Main Results:
- Carriers of the MMP2-1306 T allele (CT + TT) showed a significantly increased risk of RVO compared to CC homozygotes (OR=4.78, p<0.001).
- This association remained significant after adjusting for hypertension, diabetes, hypertriglyceridemia, and hypercholesterolemia (OR=4.275, p<0.001).
- The TIMP2G-418C polymorphism was not found to be a risk factor for RVO.
Conclusions:
- The MMP2-1306C/T gene variant is a significant risk factor for the development of retinal vein occlusion.
- The TIMP2G-418C gene variant does not appear to be associated with RVO risk.
- These findings suggest a genetic component in RVO pathogenesis related to MMP2 variations.
