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Association of age-related macular degeneration with polymorphisms in vascular endothelial growth factor and its receptor.
- Source :
-
Ophthalmology [Ophthalmology] 2010 Sep; Vol. 117 (9), pp. 1769-74. Date of Electronic Publication: 2010 May 14. - Publication Year :
- 2010
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Abstract
- Objective: To analyze the association between age-related macular degeneration (AMD) and polymorphisms in vascular endothelial growth factor (VEGF) and VEGF receptor KDR gene polymorphisms. A complex, multifactorial disease in which genetic and environmental factors interact, AMD is the leading cause of blindness in the elderly. Vascular endothelial growth factor (VEGF), a key regulator of angiogenesis, is considered an important factor for the pathogenetic processes of AMD. Previous studies investigated the possible association between VEGF-A gene polymorphisms and AMD, with contrasting data. No study examined the possible role of VEGF receptor KDR gene polymorphisms.<br />Design: Case-control study.<br />Participants and Controls: We enrolled 226 AMD cases and 248 controls from an ophthalmology hospital center.<br />Methods: Genotypying for 16 polymorphic markers (single nucleotide polymorphisms [SNPs]) in VEGF-A and KDR genes.<br />Main Outcome Measures: Distribution of genotypes in AMD cases and controls.<br />Results: Two polymorphisms (rs833069 in intron 2 of the VEGF-A gene, rs2071559 in the promoter of the KDR gene) were significantly associated with risk of AMD. In particular, for VEGF-A rs833069 the AMD risk was increased >5-fold for G homozygotes compared with homozygous carriage of the A allele. For KDR rs2071559 the AMD risk was increased >3-fold for T homozygotes compared with homozygous carriage of the C allele. Carriers of risk alleles for both markers have a >6-fold increased risk of AMD with respect to carriers of non-risk alleles.<br />Conclusions: We expand previous data on the association of AMD with VEGF-A gene variations and identify for the first time an association with variations in the KDR gene. Because the SNP-604T-bearing KDR promoter has higher transcription activity, our findings further support the role of the VEGF pathway in the pathophysiology of AMD. It is possible that applications of haplotype/genotype analysis in these genes will play a role in risk assessment and pharmacogenomic approaches to AMD diagnosis and management.<br /> (Copyright © 2010 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- Aged
Alleles
Case-Control Studies
Female
Genotype
Heterozygote
Humans
Introns genetics
Male
Middle Aged
Odds Ratio
Polymerase Chain Reaction
Prospective Studies
Macular Degeneration genetics
Polymorphism, Single Nucleotide
Vascular Endothelial Growth Factor A genetics
Vascular Endothelial Growth Factor Receptor-2 genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1549-4713
- Volume :
- 117
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Ophthalmology
- Publication Type :
- Academic Journal
- Accession number :
- 20471686
- Full Text :
- https://doi.org/10.1016/j.ophtha.2010.01.030