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H. Kim, J.-W. Mok, Y. Kim, C.-K. Joo; A Genetic Association of Vascular Endothelial Growth Factor in Korean Patients With Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2008;49(13):245. doi: https://doi.org/.
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Age related macular degeneration (AMD) causes progressive impairment of central vision and is the leading cause of irreversible vision loss in older individuals. Although the etiology of AMD has not been clearly elucidated, genetic and environmental factors have been implicated in the AMD. Vascular endothelial growth factor (VEGF), a key regulator of vascular permeability and angiogenesis, has been suggested to play an important role in the pathogenesis of age related macular degeneration (AMD). In this study, to determine whether VEGF variations are associated with AMD in Korean population, we performed mutation screening of the VEGF gene located on 6p12.
Total genomic DNA was extracted from buccal swab samples of 90 unrelated patients with Exudative AMD visited the Department of Ophthalmology at the Catholic University Medical Center. Genotyping of rs2010963 and rs833061 in the 5’ untranslated region (UTR) and rs1413711 in intron 1 of VEGF gene were performed using polymerase chain reaction - restriction fragment length polymorphism (RFLP) and direct sequencing. Control individuals were selected from the general population without AMD
In this study, we investigated three SNPs of VEGF in Korean patients with AMD. Genotypic distribution of the rs1413711 in intron 1 was significantly different between AMD patients and controls; TT genotype in AMD patients was significantly increased compared with control subjects (p = 0.004, O.R. = 3.02, 95% CI: 1.473<<6.181). AMD patients had significantly higher T allele frequency than controls (p=0.001, O.R. = 1.99, 95% CI 1.405<<2.816). But there were no statistically significant differences in the allele and genotype frequencies of rs2010963 and rs833061 in 5’ UTR between the affected individuals and control subjects. The genotype distributions of all polymorphisms of VEGF among the control subjects and the affected individuals were in Hardy-Weinberg equilibrium.
In this study, Korean AMD patients showed significantly difference in rs1413711 in intron 1 from the control group, whereas both rs2010963 and rs833061 in 5’ UTR showed no statistically significant association with AMD. Therefore, it is suggested that rs1413711 may act as a potential susceptibility variant for Korean AMD patients.
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