Skip Navigation


Human Molecular Genetics Advance Access originally published online on August 29, 2006
Human Molecular Genetics 2006 15(19):2955-2961; doi:10.1093/hmg/ddl238
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
15/19/2955    most recent
ddl238v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (23)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Churchill, A. J.
Right arrow Articles by Atan, D.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Churchill, A. J.
Right arrow Articles by Atan, D.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The Author 2006. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

VEGF polymorphisms are associated with neovascular age-related macular degeneration

Amanda J. Churchill1,*, James G. Carter1, Helen C. Lovell1, Conor Ramsden1, Steven J. Turner1, Anna Yeung2, Julia Escardo3 and Denize Atan1

1 Molecular Ophthalmology, University of Bristol, Bristol, BS1 2LX, UK, 2 West Midlands Regional Genetics Laboratory, Birmingham Womans, Hospital NHS Trust, Birmingham, B15 2TG, UK and 3 Bristol Eye Hospital, Bristol, BS1 2LX, UK

* To whom correspondence should be addressed at:, Bristol Eye Hospital, Lower Maudlin Street, Bristol, BS1 2LX, UK. Tel: +44 117 9284949; Fax: +44 117 9251421; Email: a.j.churchill{at}bristol.ac.uk

Received June 12, 2006; Accepted August 15, 2006

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).


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
R. Zarbock, D. Hendig, C. Szliska, K. Kleesiek, and C. Gotting
Vascular endothelial growth factor gene polymorphisms as prognostic markers for ocular manifestations in pseudoxanthoma elasticum
Hum. Mol. Genet., September 1, 2009; 18(17): 3344 - 3351.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
P J Francis, S C Hamon, J Ott, R G Weleber, and M L Klein
Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss
J. Med. Genet., May 1, 2009; 46(5): 300 - 307.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
A. J. Churchill, J. G. Carter, C. Ramsden, S. J. Turner, A. Yeung, P. E. C. Brenchley, and D. W. Ray
VEGF Polymorphisms Are Associated with Severity of Diabetic Retinopathy
Invest. Ophthalmol. Vis. Sci., August 1, 2008; 49(8): 3611 - 3616.
[Abstract] [Full Text] [PDF]

Home page
 Br J OphthalmolHome page
G. Holmstrom, P. van Wijngaarden, D. J Coster, and K. A Williams
Genetic susceptibility to retinopathy of prematurity: the evidence from clinical and experimental animal studies
Br J Ophthalmol, December 1, 2007; 91(12): 1704 - 1708.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
A. Kanda, W. Chen, M. Othman, K. E. H. Branham, M. Brooks, R. Khanna, S. He, R. Lyons, G. R. Abecasis, and A. Swaroop
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration
PNAS, October 9, 2007; 104(41): 16227 - 16232.
[Abstract] [Full Text] [PDF]

Home page
 DiabetesHome page
H. Al-Kateb, L. Mirea, X. Xie, L. Sun, M. Liu, H. Chen, S. B. Bull, A. P. Boright, A. D. Paterson, and for the DCCT/EDIC Research Group
Multiple Variants in Vascular Endothelial Growth Factor (VEGFA) Are Risk Factors for Time to Severe Retinopathy in Type 1 Diabetes: The DCCT/EDIC Genetics Study
Diabetes, August 1, 2007; 56(8): 2161 - 2168.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.