Vascular Endothelial Growth Factor Gene Variation and the Response to Photodynamic Therapy in Age-Related Macular Degeneration
Open accessAbstract
Purpose To evaluate the role of vascular endothelial growth factor (VEGF) gene polymorphisms in exudative age-related macular degeneration (AMD).Design Retrospective, comparative case series.Participants Patients with recent exudative AMD (n = 162) and age-matched subjects without AMD (n = 85).Methods Fluorescein angiography (FA), clinical examination, and single nucleotide polymorphism (SNP) genotyping.Main outcome measures The frequencies of 3 VEGF gene SNPs were analyzed, 1 at the promoter site (rs699947, A-->C) and 2 intronic SNPs (rs2146323, A-->C, and rs3025033, A-->G), in relation to the risk of AMD, to choroidal neovascular (CNV) lesion size and configuration, and to the anatomic response to photodynamic therapy (PDT). These SNPs were chosen to cover all the haploblocks of the VEGF gene. The 86 patients who had undergone PDT were classified as either PDT responders or PDT nonresponders based on the outcome of PDT after the last treatment session. For the PDT responders, the treating physician had deemed the lesion to be clinically dry and without leakage from CNV in FA at a visit scheduled at least 12 weeks after the last PDT treatment. For the PDT nonresponders, the PDT sessions had been discontinued by the treating retina specialist because of an apparently poor response and a still exudative lesion after several PDT sessions.Results The presence of exudative AMD or lesion size or configuration was not associated with the SNPs studied here. The frequencies of the rs699947 were significantly different in PDT nonresponders and PDT responders. The AA, AC, and CC genotypes were 14%, 39%, and 46%, respectively, in PDT nonresponders, compared with 40%, 48%, and 12%, respectively, in the PDT responders (P = 0.0008). The corresponding frequencies for the rs2146323 AA, AC, and CC genotypes were 4%, 32%, and 64%, respectively, in nonresponders and 24%, 38%, and 38%, respectively, in responders (P = 0.0369). The genotypes of the rs3025033 SNP were distributed evenly between the responders and nonresponders.Conclusions The VEGF gene polymorphic SNPs at rs699947 and rs2146323 are strong determinants of the anatomic outcome after PDT, but the SNPs studied were not associated with the presence of exudative AMD or with the CNV lesion size or configuration.Financial disclosure(s) The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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Pharmacogenetic effects have been reported for PDT monotherapy and combination therapy.
“Pharmacogenetic effects have also been reported for PDT monotherapy and combination therapy.”
From Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians. (2024) · cites this paper as [56]
The Effect of Photodynamic Therapy Treatment section reports an association between VEGF gene variants and response to PDT, supporting the monotherapy part of the claim. The study excluded a patient who received an intravitreal injection alongside PDT and does not report a pharmacogenetic effect for combination therapy. Page numbers are unavailable in our copy. (LLM, conf=0.90)
Experimental — accuracy not yet measuredVariants at VEGF and CRP were reported to be associated with improved outcomes after PDT.
“whereas variants at the vascular endothelial growth factor (VEGF) and C-reactive protein (CRP) were reported to be associated with improved outcomes after PDT [55,56].”
From Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians. (2024) · cites this paper as [56]
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“Common variants at CFH were reported not to be associated with PDT outcomes [54,55], whereas variants at the vascular endothelial growth factor ( VEGF ) and C-reactive protein ( CRP ) were reported to be associated with improved outcomes after PDT [55,56].”
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- Authors
- Immonen, I., Seitsonen, S., Tommila, P., Kangas-Kontio, T., Kakko, S., Savolainen, E.-R., Savolainen, M. J., & Liinamaa, M. J.
- Affiliations
- Helsinki University Hospital (FI)
- University of Oulu (FI)
- Oulu University Hospital (FI)
- Corresponding author
- Immonen, Ilkka
- Venue
- Ophthalmology
- Publisher
- Elsevier BV
- Published
- 2010-01
- Volume
- 117
- Issue
- 1
- Pages
- 103-108
- ISSN
- 0161-6420 (ISSN-L)
- OpenAlex
- W2095494620
- Cited by
- 45
- References
- 28
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 2 · 2022: 2 · 2021: 1 · 2020: 2 · 2018: 3 · 2017: 1 · 2016: 3 · 2015: 1 · 2014: 3 · 2013: 9 · 2012: 7
- FWCI
- 5.43
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Ophthalmology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Health Sciences › Medicine › Ophthalmology › Ocular Diseases and Behçet’s Syndrome
- Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Retinal Imaging and Analysis
- Keywords
- vascular endothelial growth factor, VEGF gene polymorphisms, neovascular age-related macular degeneration, choroidal neovascularization, rs699947, single nucleotide polymorphisms, genetic susceptibility, treatment response prediction
- MeSH terms
- Fluorescein Angiography, Genotype, Humans, Macular Degeneration, Photochemotherapy, Retrospective Studies, Polymorphism, Single Nucleotide, Vascular Endothelial Growth Factor A
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