A tag-single nucleotide polymorphisms approach to the vascularendothelial growth factor-A gene in age-related macular degeneration

[摘要] Purpose: Age-related macular degeneration (AMD) is the leading causeof poor vision in the developed world, and its pathogenesis remainsunknown. The most devastating form of end stage disease is neovascularor wet AMD, where there is abnormal growth of new blood vessels underthe retina. Vascular endothelial growth factor (VEGF) is thought to be amajor player in the stimulus of this abnormal growth of blood vessels.We undertook a case-control association study to investigate the VEGF-Agene, a known angiogenic gene that has previously been associated withAMD.Methods: We recruited 577 individuals with AMD (early, atrophic, andneovascular AMD) and 173 ethnically matched controls for our study. Weemployed a tag-single nucleotide polymorphisms (tSNP) approach toinvestigate this gene using a series of seven tSNPs that encompassed thecoding region of the VEGF gene as well as its promoter. Alleles weredetermined by a MALDI-TOF based approach followed by statisticalanalysis.Results: One SNP (rs3024997) showed evidence of departure fromHardy-Weinberg equilibrium in only the AMD cases. Therefore, it wasretained for further analysis. All other SNPs in our study showed nodeparture from Hardy-Weinberg equilibrium. No association was foundbetween any of the VEGF tSNPs analysed in our study and AMD nor any ofits sub-types.Conclusions: Using a tSNP approach, we found no evidence of anassociation of these SNPs within the VEGF-A gene being associated witheither AMD or any of its subtypes in our population.

[学科分类] 生物化学/生物物理