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  • Title: The C allele of -634G/C polymorphism in the VEGFA gene is associated with increased VEGFA gene expression in human retinal tissue.
    Author: Vailati FB, Crispim D, Sortica DA, Souza BM, Brondani LA, Canani LH.
    Journal: Invest Ophthalmol Vis Sci; 2012 Sep 21; 53(10):6411-5. PubMed ID: 22915033.
    Abstract:
    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.
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