The rs2071559 AA VEGFR-2 genotype frequency is significantly lower in neovascular age-related macular degeneration patients.
In this prospective, case-control genetic study, 120 consecutive neovascular age-related macular degeneration (AMD) cases and 78 controls were enrolled. Two SNPs (rs2071559 and rs1870377) of VEGF-A receptor-2 (VEGFR-2) gene were analyzed with the technique of Real-Time PCR to investigate a genetic link between AMD and VEGFR-2 gene polymorphisms in Italian patients. The frequency of the VEGFR-2 genotype rs2071559 AA was significantly lower (18.33%) in patients with AMD than in the control subjects (34.62%; P = 0.0095, chi-square test; P(corr) = 0.038; OR = 0.42, 95% CI 0.22 to 0.82). In conclusion, although with the limitations of a small sample size and the few SNPs studied, this study demonstrates a lower frequency of VEGFR-2 rs2071559 AA genotype in an AMD patient population, suggesting future studies on the role VEGFR-2 SNPs.
Ophthalmology Unit, University Hospital, Via Paradisa, 2-56124 Pisa, Italy.
Stefano
S
Lazzeri
Paola
P
Orlandi
Michele
M
Figus
Anna
A
Fioravanti
Elisa
E
Cascio
Teresa
T
Di Desidero
Elisa
E
Agosta
Bastianina
B
Canu
Maria Sole
MS
Sartini
Romano
R
Danesi
Marco
M
Nardi
Guido
G
Bocci
D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D040301:Vascular Endothelial Growth Factor Receptor-2 / Q000235:genetics*; D057135:Wet Macular Degeneration / Q000235:genetics*
D040301:Vascular Endothelial Growth Factor Receptor-2