Richardson Andrea J, Islam F M Amirul, Guymer Robyn H, Cain Melinda, Baird Paul N
Centre for Eye Research Australia, University of Melbourne, Australia.
Mol Vis. 2007 Nov 26;13:2148-52.
Age-related macular degeneration (AMD) is the leading cause of poor vision in the developed world, and its pathogenesis remains unknown. The most devastating form of end stage disease is neovascular or wet AMD, where there is abnormal growth of new blood vessels under the retina. Vascular endothelial growth factor (VEGF) is thought to be a major player in the stimulus of this abnormal growth of blood vessels. We undertook a case-control association study to investigate the VEGF-A gene, a known angiogenic gene that has previously been associated with AMD.
We recruited 577 individuals with AMD (early, atrophic, and neovascular AMD) and 173 ethnically matched controls for our study. We employed a tag-single nucleotide polymorphisms (tSNP) approach to investigate this gene using a series of seven tSNPs that encompassed the coding region of the VEGF gene as well as its promoter. Alleles were determined by a MALDI-TOF based approach followed by statistical analysis.
One SNP (rs3024997) showed evidence of departure from Hardy-Weinberg equilibrium in only the AMD cases. Therefore, it was retained for further analysis. All other SNPs in our study showed no departure from Hardy-Weinberg equilibrium. No association was found between any of the VEGF tSNPs analyzed in our study and AMD nor any of its sub-types.
Using a tSNP approach, we found no evidence of an association of these SNPs within the VEGF-A gene being associated with either AMD or any of its subtypes in our population.
年龄相关性黄斑变性（AMD）是发达国家视力下降的主要原因，其发病机制尚不清楚。终末期疾病最具破坏性的形式是新生血管性或湿性AMD，即视网膜下有异常的新生血管生长。血管内皮生长因子（VEGF）被认为是刺激这种异常血管生长的主要因素。我们进行了一项病例对照关联研究，以调查VEGF-A基因，这是一个已知的血管生成基因，此前已与AMD相关联。
我们招募了577名AMD患者（早期、萎缩性和新生血管性AMD）和173名种族匹配的对照者进行研究。我们采用标签单核苷酸多态性（tSNP）方法，使用一系列涵盖VEGF基因编码区及其启动子的七个tSNP来研究该基因。通过基于基质辅助激光解吸电离飞行时间（MALDI-TOF）的方法确定等位基因，随后进行统计分析。
一个单核苷酸多态性（rs3024997）仅在AMD病例中显示出偏离哈迪-温伯格平衡的证据。因此，它被保留用于进一步分析。我们研究中的所有其他单核苷酸多态性均未显示偏离哈迪-温伯格平衡。在我们研究中分析的任何VEGF tSNP与AMD及其任何亚型之间均未发现关联。
使用tSNP方法，我们没有发现VEGF-A基因内的这些单核苷酸多态性与我们人群中的AMD或其任何亚型相关的证据。
