The C allele of -634G/C polymorphism in the VEGFA gene is associated with increased VEGFA gene expression in human retinal tissue.
OBJECTIVE
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.
Division of Endocrinology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. fabivaliatti@hotmail.com
Fabiana B
FB
Vailati
Daisy
D
Crispim
Denise A
DA
Sortica
Bianca M
BM
Souza
Letícia A
LA
Brondani
Luís H
LH
Canani
D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D002102:Cadaver; D003430:Cross-Sectional Studies; D003930:Diabetic Retinopathy / Q000453:epidemiology / Q000235:genetics; D005260:Female; D015870:Gene Expression / Q000502:physiology; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012160:Retina / Q000502:physiology*; D012171:Retinal Vessels / Q000502:physiology*; D012307:Risk Factors; D014019:Tissue Donors / Q000706:statistics & numerical data; D042461:Vascular Endothelial Growth Factor A / Q000235:genetics*; D055815:Young Adult
C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A