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Human Molecular Genetics Advance Access published online on August 29, 2006
Human Molecular Genetics, doi:10.1093/hmg/ddl238
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© The Author 2006. Published by Oxford University Press. All rights reserved
Received August 15, 2006
Accepted June 12, 2006

Article

VEGF Polymorphisms are Associated with Neovascular Age-related Macular Degeneration

Amanda J Churchill 1 *, James G Carter 2, Helen C Lovell 2, Conor Ramsden 2, Steven J Turner 2, Anna Yeung 3, Julia Escardo 4, and Denize Atan 2

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

* To whom correspondence should be addressed.
Amanda J Churchill, E-mail: a.j.churchill{at}bristol.ac.uk


  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 (SNP) 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 value = 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 value = 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 No. M63971 and AF437895)


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