title: Association of MMP2-1306C/T and TIMP2G-418C polymorphisms in retinal vein occlusion.
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.
authors.affiliation: Gaziosmanpasa University Faculty of Medicine, Department of Ophthalmology, Tokat, Turkey. huseyin.ortak@hotmail.com
authors.forename: Huseyin
authors.initials: H
authors.lastname: Ortak
authors.forename: Selim
authors.initials: S
authors.lastname: Demir
authors.forename: Omer
authors.initials: O
authors.lastname: Ateş
authors.forename: Erkan
authors.initials: E
authors.lastname: Söğüt
authors.forename: Sait
authors.initials: S
authors.lastname: Alim
authors.forename: Ismail
authors.initials: I
authors.lastname: Benli
mesh_terms: D015992:Body Mass Index; D003920:Diabetes Mellitus / Q000175:diagnosis; D005260:Female; D005451:Fluorescein Angiography; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000175:diagnosis; D008055:Lipids / Q000097:blood; D008297:Male; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D009887:Ophthalmoscopy; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D012170:Retinal Vein Occlusion / Q000175:diagnosis / Q000235:genetics*; D012307:Risk Factors; D019716:Tissue Inhibitor of Metalloproteinase-2 / Q000235:genetics*
chemical_list: D008055:Lipids; C560823:TIMP2 protein, human; D019716:Tissue Inhibitor of Metalloproteinase-2; C522361:MMP2 protein, human; D020778:Matrix Metalloproteinase 2
keywords: matrix metalloproteinase; polymorphisms; retinal vein occlusion