VEGF A (rs699947 and rs833061) and VEGFR2 (rs2071559) Gene Polymorphisms are not Associated with AMD Susceptibility in a Spanish Population

• Published in: Current eye research Vol. 38; no. 12; pp. 1274 - 1277
• Main Authors: Cruz-González, Fernando, Cieza-Borrella, Clara, Cabrillo-Estévez, L., Cañete-Campos, Cristina, Escudero-Domínguez, Francisco, González-Sarmiento, Rogelio
• Format: Journal Article
• Language: English
• Published: England Informa Healthcare USA, Inc 01.12.2013; Taylor & Francis
• Subjects: Aged; Aged, 80 and over; AMD; Angiogenesis; degeneration; Female; Genetic Predisposition to Disease - epidemiology; Genetic Predisposition to Disease - genetics; genetics; Genotype; Humans; macula; Macular Degeneration - epidemiology; Macular Degeneration - genetics; Male; Middle Aged; Polymorphism, Genetic; Risk Factors; Spain - epidemiology; Vascular Endothelial Growth Factor A - genetics; Vascular Endothelial Growth Factor Receptor-2 - genetics
• ISSN: 0271-3683; 1460-2202; 1460-2202
• DOI: 10.3109/02713683.2013.819926

Abstract Purpose: Age-related macular degeneration (AMD) is a multifactorial disease due to interaction between genetic and environmental factors. Increased angiogenesis plays a central role in AMD development. Previous studies on the potential link between AMD and vascular endothelial growth factor (VEGFA) and vascular endothelial growth factor receptor (VEGFR) have yielded conflicting results. We have analysed if polymorphisms in genes coding for VEGFA and VEGFR are associated to susceptibility to suffer AMD in a cohort of Spanish subjects. Patients and Methods: We obtained peripheral blood samples from 151 patients with diagnosis of exudative AMD. We also studied 91 healthy subjects matched by age. We studied VEGFA rs699947 and rs833061, and VEGFR2 rs2071559 polymorphisms using real-time PCR with TaqMan probes. Results: We did not find statistically significant differences in genotypic distribution of VEGF rs699947 and rs833061 polymorphisms between patients and controls. However, analysis of VEGFR2 rs2071559 polymorphism shows that carriers of GG genotype are more frequent in subjects with AMD (p: 0.032; Odds Ratio(OR): 1.933; confidence interval (CI): 1.053-3.549), but, when corrected by Bonferroni testing, the result was found to be not significant. Conclusion: Our study shows that VEGFA rs699947 and rs833061 and VEGFR2 rs2071559 polymorphisms do not modify the risk of suffering AMD in a Spanish population.