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S. Kwon, S. Byun, S. Hong, J. Kim, O. Kwon; Predicting Diabetic Retinopathy by Genetic Polymorphisms of Vascular Endothelial Growth Factor . Invest. Ophthalmol. Vis. Sci. 2006;47(13):1718.
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Many genetic factors have been known to be involved in the progress of diabetic retinopathy (DR). The aim of this study was to assess the potentials of vascular endothelial growth factor (VEGF) polymorphisms in relation to predicting the progression of retinopathy in diabetic patients.
We previously found that the allele frequencies of two genetic polymorphisms of VEGF (vf1 and vf2, rs3025039 and rs3025040) acting as haplotype and one genetic polymorphism (vfr1, rs3812867) within 3’–untranslated regions (3’–UTR) of VEGFR1 significantly differed between patients with and without retinopathy. To examine whether these polymorphisms are involved in the risk of severe DR, 100 unrelated Korean patients of type 2 diabetes mellitus with DR were selected (M/F 45/55, age 60.8 ± 11.3 years, diabetes duration 18.4 ± 8.3 years, diabetic retinopathy duration 6.9 ± 4.3 years) and classified as the presence (n= 46) or the absence (n=54) of vf1, vf2 and vfr1. Genetic polymorphisms of VEGF and VEGFR1 were detected by a matrix–assisted laser desorption/ionization time of flight mass spectrometry (MALDI–TOF MS)–based SNP scoring assay, termed Restriction Fragment Mass Polymorphism (RFMP), which exploits differences in molecular weights between common allele and rare allele bases of interest.
We found a significant association between retinopathy status and the polymorphisms of vf1, vf2 and vfr1. Logistic regression analysis revealed that the T/T genotypes of vf1 and vf2 and the A genotype of vfr1 are associated with the increased risks of developing retinopathy in diabetses patients: OR= 3.23, P= 0.0093 (95%CI= 1.3145 ∼ 7.9712). DR severity in patients with the T/T genotypes of vf1 and vf2 or the A genotype of vfr1 was higher when compared with patients without them.
These data implicate the polymorphisms in the 3’–UTR of the VEGF and VEGFR1 genes as risk factors for the progress of diabetic retinopathy.
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