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Invest Ophthalmol Vis Sci. 2012 Sep 21;53(10):6411-5.

The C allele of -634G/C polymorphism in the VEGFA gene is associated with increased VEGFA gene expression in human retinal tissue.

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  • 1Division of Endocrinology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. fabivaliatti@hotmail.com

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.

PMID:
22915033
[PubMed - indexed for MEDLINE]
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