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J.G. Carter, H.C. Lovell, C. Ramsden, S.J. Turner, A. Yeung, J. Escardo, A.J. Churchill; Single Nucleotide Polymorphisms in Vascular Endothelial Growth Factor Gene and Their Association in Patients With Angiogenic Eye Disease . Invest. Ophthalmol. Vis. Sci. 2006;47(13):3279.
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To determine whether there is an association between single nucleotide polymorphisms (SNPs) in the vascular endothelial growth factor (VEGF) gene and angiogenic eye disease using neovascular age–related macular degeneration (exAMD) and proliferative diabetic retinopathy (PDR) as models.
This is a case–control study of 50 patients with exAMD, 50 patients with PDR and 100 controls. Genotypes for 5 intronic SNPs (+674C→T, +4618C→T, +5092A→C, +9162C→T & +9512C→T) were determined by allele–specific PCR. Predicted haplotypes were determined by PHASE v2.1 and data were analysed by Pearson’s Χ2, adjusted for the Bonferroni correction where appropriate.
Individual analysis of the 5 intronic SNPs revealed that the SNP1 (+674) CC haplotype was associated with exAMD and that the SNP2 (+4618) CT haplotype was associated with PDR. Combined haplotype analysis produced 4 potential ‘at risk’ haplotypes associated with exAMD (e.g. TCACT; OR=7.5 [1.5, 36.6], corrected p=0.02), and 6 ‘at risk’ haplotypes associated with PDR (e.g. TCACT; OR=36.6 [8.5, 157.9], corrected p=8.8x10–12). Three of the ‘at risk’ haplotypes were the same for both exAMD and PDR. Three potentially ‘protective’ haplotypes were associated with the control group (e.g. CTCTT; OR=0.07 [0.02, 0.31] p=1.1x10–4) when compared to both exAMD and PDR.
We have found an association between individual VEGF SNPs and combined SNP haplotypes and angiogenic eye disease using exAMD and PDR as models. We have also found haplotypes in the control group which may protect against the development of angiogenic eye disease. It is well known that SNPs can influence the transcription of genes and previous data have shown that VEGF levels are elevated in PDR. Although we do not know the mechanism through which these particular SNPs are acting it is reasonable to propose that the balance between pro–angiogenic and anti–angiogenic growth factors is affected. Identification of those ‘at risk’ of angiogenic eye disease will not only assist in the appropriate provision of healthcare but may also have important dietary and lifestyle implications for some individuals.
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