VEGFA 基因中的-634G/C 多态性的 C 等位基因与人类视网膜组织中 VEGFA 基因表达的增加有关。
The C allele of -634G/C polymorphism in the VEGFA gene is associated with increased VEGFA gene expression in human retinal tissue.
机构信息
Division of Endocrinology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
出版信息
Invest Ophthalmol Vis Sci. 2012 Sep 21;53(10):6411-5. doi: 10.1167/iovs.12-9727.
PURPOSE
The purpose of this study was to evaluate the effect of the -634G/C polymorphism on VEGFA gene expression in the human retina.
METHODS
A cross-sectional study was performed to analyze the frequency of the -634G/C polymorphism (rs2010963) in 190 cadaveric cornea donors. Individuals with diabetes mellitus, eye/retinal disease, or both were not included in this study.
RESULTS
A total of 53 retinal samples were analyzed (18 GG, 17 GC, and 18 CC). VEGFA gene expression was measured by reverse transcription-quantitative polymerase chain reaction. Donor age ranged from 13 to 79 years (mean, 55.8 ± 15.8 years), and 49.1% (n = 26) were male. Subjects carrying the C allele (CC or GC genotypes, 5.15 ± 4.47 arbitrary units [AU] or 3.72 ± 3.25 AU, respectively) presented higher VEGFA gene expression than subjects with the GG genotype (2.62 ± 2.56 AU; P = 0.045).
CONCLUSIONS
This study indicates that the C allele of the -634G/C polymorphism is associated with higher VEGFA gene expression in the human retina.
目的
本研究旨在评估 VEGFA 基因 -634G/C 多态性对人视网膜中基因表达的影响。
方法
进行了一项横断面研究，以分析 190 例尸体供体角膜中 -634G/C 多态性（rs2010963）的频率。本研究不包括患有糖尿病、眼部/视网膜疾病或两者皆有的个体。
结果
共分析了 53 份视网膜样本（18 例 GG、17 例 GC 和 18 例 CC）。通过逆转录定量聚合酶链反应测量 VEGFA 基因表达。供体年龄为 13 至 79 岁（平均 55.8±15.8 岁），49.1%（n=26）为男性。携带 C 等位基因（CC 或 GC 基因型，5.15±4.47 个任意单位 [AU]或 3.72±3.25 AU）的受试者比携带 GG 基因型的受试者（2.62±2.56 AU）的 VEGFA 基因表达更高（P=0.045）。
结论
本研究表明，-634G/C 多态性的 C 等位基因与人视网膜中 VEGFA 基因表达较高有关。
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