Department of Ophthalmology, Faculdade de Medicina, Universidade Federal de Minas Gerais, Av. Alfredo Balena 190, Belo Horizonte, MG, Brasil 30130-100.
Graefes Arch Clin Exp Ophthalmol. 2012 Feb;250(2):185-9. doi: 10.1007/s00417-011-1807-5. Epub 2011 Sep 1.
To investigate the association between VEGF gene polymorphism and age-related macular degeneration (AMD) in a Brazilian cohort.
We examined 160 affected individuals and 140 sex- and age-matched controls recruited at the Vision Institute and the Retina Department, São Geraldo Hospital, Minas Gerais Federal University, Brazil, between 2007 and 2011. Genotyping for the VEGF rs1413711 single nucleotide polymorphism (SNP) (+674C>T) was performed. The incidence rate ratios and 95% confidence interval (CI) for AMD for this genotype was calculated. The odds ratio (OR) was also assessed by using logistic regression, controlling for CFH and LOC387715 risk genotype.
We observed a prevalence of homozygosity (TT genotype) of 18.1% for rs1413711 among AMD cases compared with 5.8% among controls (P < 0.002). The ORs for this polymorphism were 3.6 (95%CI 1.6-8.2) for homozygous subjects and 1.5 (95%CI 1.1-2.1, P < 0.01) if the subject had at least one risk allele. When we studied separately exudative and dry AMD groups, this polymorphism was statistically significant for both groups. Controlling for CFH and LOC387715 risk genotype the OR was 3.0 for VEGF homozygous, and the OR increases if the patient is homozygous for the three genes.
The present data suggests that VEGF TT genotype is associated with AMD among Brazilian patients.
在巴西队列中研究血管内皮生长因子（VEGF）基因多态性与年龄相关性黄斑变性（AMD）之间的关系。
我们检查了 2007 年至 2011 年期间在巴西米纳斯吉拉斯联邦大学视觉研究所和视网膜科招募的 160 名受影响个体和 140 名性别和年龄匹配的对照者。对 VEGF rs1413711 单核苷酸多态性（SNP）（+674C>T）进行基因分型。计算这种基因型的 AMD 的发病率比和 95％置信区间（CI）。还通过使用逻辑回归，控制 CFH 和 LOC387715 风险基因型，评估了 AMD 的比值比（OR）。
与对照组（5.8％）相比，AMD 病例中 rs1413711 的纯合性（TT 基因型）的患病率为 18.1％（P <0.002）。该多态性的 OR 对于纯合子分别为 3.6（95％CI 1.6-8.2），对于至少具有一个风险等位基因的个体为 1.5（95％CI 1.1-2.1，P <0.01）。当我们分别研究渗出性和干性 AMD 组时，该多态性在两组中均具有统计学意义。控制 CFH 和 LOC387715 风险基因型后，VEGF 纯合子的 OR 为 3.0，而患者为三个基因的纯合子时，OR 会增加。
目前的数据表明，VEGF TT 基因型与巴西患者的 AMD 相关。
