Yunus Bulgu1, Gokhan Ozan Cetin2, Vildan Caner3, Ebru Nevin Cetin1, Volkan Yaylali1, Cem Yildirim1. 1. Department of Ophthalmology, School of Medicine, Pamukkale University, Denizli 20070, Turkey. 2. Department of Medical Genetics, School of Medicine, Pamukkale University, Denizli 20070, Turkey. 3. Department of Medical Biology, School of Medicine, Pamukkale University, Denizli 20070, Turkey.
Abstract
AIM: To assess the association between age-related macular degeneration (AMD) and three single nucleotide polymorphisms (SNPs) related to the vascular endothelial growth factor (VEGF) gene. METHODS: The patients who were diagnosed with AMD were included in this prospective study. Three SNPs (rs1413711, rs2146323, and rs3025033) of the VEGF gene were genotyped by real-time polymerase chain reaction in the genomic DNA isolated from peripheral blood samples of the 82 patients and 80 controls. RESULTS: The genotype frequencies of rs1413711 and rs2146323 were not significantly different between the study group and the control group (P=0.072 and P=0.058). However, there was a significant difference in the genotype frequencies of these SNPs between the wet type AMD and dry type AMD (P=0.005 and P=0.010, respectively). One of the SNPs (rs1413711) was also found to be associated with the severity of AMD (P=0.001) with significant genotype distribution between early, intermediate, and advanced stages of the disease. The ancestral alleles were protective for both SNPs while the polymorphic alleles increased the risk for dry AMD. CONCLUSION: VEGF SNPs rs1413711 and rs2146323 polymorphisms are significantly associated with AMD subtypes in our population.
AIM: To assess the association between age-related macular degeneration (AMD) and three single nucleotide polymorphisms (SNPs) related to the vascular endothelial growth factor (VEGF) gene. METHODS: The patients who were diagnosed with AMD were included in this prospective study. Three SNPs (rs1413711, rs2146323, and rs3025033) of the VEGF gene were genotyped by real-time polymerase chain reaction in the genomic DNA isolated from peripheral blood samples of the 82 patients and 80 controls. RESULTS: The genotype frequencies of rs1413711 and rs2146323 were not significantly different between the study group and the control group (P=0.072 and P=0.058). However, there was a significant difference in the genotype frequencies of these SNPs between the wet type AMD and dry type AMD (P=0.005 and P=0.010, respectively). One of the SNPs (rs1413711) was also found to be associated with the severity of AMD (P=0.001) with significant genotype distribution between early, intermediate, and advanced stages of the disease. The ancestral alleles were protective for both SNPs while the polymorphic alleles increased the risk for dry AMD. CONCLUSION:VEGF SNPs rs1413711 and rs2146323 polymorphisms are significantly associated with AMD subtypes in our population.
Authors: Carlos Eduardo dos Reis Veloso; Luciana Negrão Frota de Almeida; Franco Maria Recchia; David Pelayes; Márcio Bittar Nehemy Journal: Ophthalmic Res Date: 2013-10-22 Impact factor: 2.892
Authors: Jonathan L Haines; Nathalie Schnetz-Boutaud; Silke Schmidt; William K Scott; Anita Agarwal; Eric A Postel; Lana Olson; Shannon J Kenealy; Michael Hauser; John R Gilbert; Margaret A Pericak-Vance Journal: Invest Ophthalmol Vis Sci Date: 2006-01 Impact factor: 4.799
Authors: Ilkka Immonen; Sanna Seitsonen; Petri Tommila; Tiia Kangas-Kontio; Sakari Kakko; Eeva-Riitta Savolainen; Markku J Savolainen; M Johanna Liinamaa Journal: Ophthalmology Date: 2009-11-06 Impact factor: 12.079
Authors: Francesco Parmeggiani; Mario R Romano; Ciro Costagliola; Francesco Semeraro; Carlo Incorvaia; Sergio D'Angelo; Paolo Perri; Paolo De Palma; Katia De Nadai; Adolfo Sebastiani Journal: Mediators Inflamm Date: 2012-11-07 Impact factor: 4.711