The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
VEGF polymorphisms are associated with neovascular age-related macular degeneration
Abstract
Age-related macular degeneration (AMD) is the most common cause of blindness in the elderly. Linkage has been shown to the vascular endothelial growth factor (VEGF) gene and ocular levels of VEGF are raised in individuals with the neovascular form of disease. To examine the role of VEGF further, we conducted a case-control study where 45 individuals with neovascular AMD and 94 age-matched controls were genotyped for 14 single nucleotide polymorphisms (SNPs) in the VEGF promoter and gene. The single SNP +674 CC genotype was significantly associated with AMD (OR=2.40, 95%CI 1.09-5.26, P=0.027). Haplotype analysis of SNPs +674, +4618, +5092, +9162 and +9512 revealed that CTCCT and TCACC were associated with AMD (OR=15.77, 95% CI 1.91-130.24, P=0.0161 and OR=9.95, 95%CI 3.22-30.74, P=0.000053, respectively). The haplotype TCACT was associated with the control group (P=0.0001832). Furthermore, haplotype analysis of promoter SNPs revealed that possession of the -460T, -417T, -172C, -165C, -160C, -152G, -141A, -116A, +405C haplotype was strongly associated with AMD (OR=18.24, 95%CI 2.25-148.25, P=0.0074). This is the most extensive analysis of the VEGF gene in AMD, demonstrating a clear association with the exudative form of disease, thereby creating the possibility for predictive testing. Smoking, high fat intake and hypertension are negative environmental risk factors in AMD, whereas increased consumption of dietary antioxidants can have a protective effect. Identification of those at risk in the population would allow individual counselling with lifestyle advice to reduce the risks of blindness. (Genbank accession nos M63971 and AF437895).
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Cites
Complement factor H polymorphism in age-related macular degeneration
Klein, R. J., Zeiss, C., Chew, E. Y., Tsai, J.-Y., Sackler, R. S., Haynes, C., Henning, A. K., SanGiovanni, J. P., Mane, S. M., Mayne, S. T., et al. (2005) · Science · doi:10.1126/science.1109557 · Cited by 4,492
Complement factor H polymorphism and age-related macular degeneration
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Complement factor H variant increases the risk of age-related macular degeneration
Haines, J. L., Hauser, M. A., Schmidt, S., Scott, W. K., Olson, L. M., Gallins, P., Spencer, K. L., Kwan, S. Y., Noureddine, M., Gilbert, J. R., et al. (2005) · Science · doi:10.1126/science.1110359 · Cited by 2,424
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Prevalence of age-related maculopathy
Klein, R., Klein, B. E. K., & Linton, K. L. P. (1992) · Ophthalmology · doi:10.1016/s0161-6420(92)31871-8 · Cited by 1,845
The AMD Genetics Clinical Study Group, Gold, B., Merriam, J. E., Zernant, J., Hancox, L. S., Taiber, A. J., Gehrs, K., Cramer, K., Neel, J., Bergeron, J., et al. (2006) · Nature Genetics · doi:10.1038/ng1750 · Cited by 1,075
The Prevalence of Age-related Maculopathy in the Rotterdam Study
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Dietary intake of antioxidants and risk of age-related macular degeneration
van Leeuwen, R. (2005) · JAMA · doi:10.1001/jama.294.24.3101 · Cited by 345
Missense Variations in the Fibulin 5 Gene and Age-Related Macular Degeneration
Stone, E. M., Braun, T. A., Russell, S. R., Kuehn, M. H., Lotery, A. J., Moore, P. A., Eastman, C. G., Casavant, T. L., & Sheffield, V. C. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa040833 · Cited by 324
Cited by
Molecular pathology of age-related macular degeneration
Ding, X., Patel, M., & Chan, C.-C. (2009) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2008.10.001 · Cited by 582
“Another study, which involved 45 patients with neovascular disease, identified a haplotypic association in both the promoter and an intronic region of the VEGF gene (Churchill et al., 2006).”
BackgroundInfluentialKanda, A., Chen, W., Othman, M., Branham, K. E. H., Brooks, M., Khanna, R., He, S., Lyons, R., Abecasis, G. R., & Swaroop, A. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0703933104 · Cited by 441
Vascular Endothelial Growth Factor A in Intraocular Vascular Disease
Miller, J. W., Le Couter, J., Strauss, E. C., & Ferrara, N. (2013) · Ophthalmology · doi:10.1016/j.ophtha.2012.07.038 · Cited by 406
Risk factors and biomarkers of age-related macular degeneration
Lambert, N. G., ElShelmani, H., Singh, M. K., Mansergh, F. C., Wride, M. A., Padilla, M., Keegan, D., Hogg, R. E., & Ambati, B. K. (2016) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2016.04.003 · Cited by 351
Newman, A. M., Gallo, N. B., Hancox, L. S., Miller, N. J., Radeke, C. M., Maloney, M. A., Cooper, J. B., Hageman, G. S., Anderson, D. H., Johnson, L. V., et al. (2012) · Genome Medicine · doi:10.1186/gm315 · Cited by 270
Metadata
- Authors
- Churchill, A. J.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2006-08-07
- Volume
- 15
- Issue
- 19
- Pages
- 2955-2961
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2111821329
- Cited by
- 189
- References
- 11
- FWCI
- 11.77
- Type
- journal article
- Language
- en
- Open access
- closed
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