Endothelial PAS Domain-Containing Protein 1 (EPAS1) Gene Polymorphisms and Response to Anti-VEGF Therapy in the Comparison of AMD Treatments Trials (CATT)

Hagstrom, Stephanie A.; Ying, Gui‐Shuang; Pauer, Gayle J.; Huang, Jiayan; Maguire, Maureen G.; Martín, Daniel

doi:10.1016/j.ophtha.2014.02.025

Cited by 15 publications

(12 citation statements)

References 4 publications

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“…To date, several studies have suggested that genetic variants can influence this variability in treatment response 6 – 16 . These studies have mainly focused on single-nucleotide polymorphisms (SNPs) located in AMD-associated loci, but common variants in VEGF family members, cytokines, and proteins involved in the development and maintenance of the retinal vasculature have also been explored.…”

Section: Introductionmentioning

confidence: 99%

“…These studies have mainly focused on single-nucleotide polymorphisms (SNPs) located in AMD-associated loci, but common variants in VEGF family members, cytokines, and proteins involved in the development and maintenance of the retinal vasculature have also been explored. Not all studies showed consistent results 9 , 16 ; however, due to a high variability in study designs, it is difficult to reliably compare the outcomes of these studies. Therefore, the relevance and basis of the genetic component of this diverse response to treatment still needs to be elucidated.…”

Section: Introductionmentioning

confidence: 99%

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A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration

Lorés‐Motta

Asten

Muether

et al. 2016

Pharmacogenetics and Genomics

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration

Lorés‐Motta

Asten

Muether

et al. 2016

Pharmacogenetics and Genomics

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“…It is a transcription factor that is mainly present in highly vascularized tissues. [4]. In 2013, Zhao L. et al examined whether different variants of the vascular endothelial growth factor A (VEGFA) gene are associated with different responses to anti-VEGF therapy.…”

Section: Description Of the State Of Knowledgementioning

confidence: 99%

Targeted therapy in age-related macular degeneration (AMD)

Szumna

Piędel

Rocka

et al. 2020

J Educ Health Sport

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Introduction and purpose: Age-related macular degeneration (AMD) is a major cause of blindness in highly developed countries, with blindness frequency of 8.7%. This article is a review of the latest therapeutic options for AMD.A brief description of the state of knowledge: AMD is a multifactorial disease which etiology is not completely understood. Its development is affected by disorders at the cellular level, environmental and genetic factors. Intraocular injections of anti-VEGF agents are currently considered as the basis of AMD neovascular treatment. In the search for better and better therapeutic agents, the effects of administration of bevacizumab and ranizumab were tested. Many clinical studies confirm long-term and effective improvement in patients' vision after using the above-mentioned drugs, indicating that the initial response to treatment and the persistence of the therapeutic effect is individually variable and may be associated with genotypic difference. Another promising alternative to AMD treatment is the use of specific viral vectors that transfer substances slowing down the disease into the vitreous. Another method of gene therapy is the use of HIF transcription factors (hypoxia-induced factors), for now, the research is performed on animal models. Patients with dry AMD also have a chance for successful treatment. Examined gene therapy in dry form of AMD, including retinal surgery combined with viral vector injection, is in I/II phase study in Great Britain. Conclusions: Looking at the number of blindness cases in highly developed countries caused by AMD, every effort should be made to introduce effective treatment that at least inhibits disease progression. Undoubtedly, more research is needed to confirm the efficacy and long-term safety of AMD.

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“…Small retrospective studies have found statistically significant associations between variants in candidate genes, either related to angiogenesis or known to confer AMD risk, and response to anti-VEGF [91]. In contrast, no such genetic associations were observed in the major Comparison of AMD Treatments Trial (CATT) and Inhibit VEGF in Patients with Age-Related CNV Study (IVAN) randomised control trials [92][93][94][95][96]. Recent meta-analyses pooling data from these smaller studies with the major trials have reported positive associations between anti-VEGF treatment response and the CFH Y402H and AMRS2 A69S variants, as well as polymorphisms in VEGF-A and VEGFR-2, but all acknowledge the need for large prospective trials to validate their findings [97][98][99][100].…”

Section: Pharmacogenetics and Amdmentioning

confidence: 99%

Genetics and genetic testing for age-related macular degeneration

Warwick

Lotery

2017

Eye

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Considerable advances have been made in our understanding of age-related macular degeneration (AMD) genetics over the past decade. The genetic associations discovered to date are estimated to account for approximately half of AMD heritability, and functional studies of these variants have revealed new insights into disease pathogenesis, leading to the development of potential novel therapies. There is furthermore growing interest in genetic testing for predicting an individual's risk of AMD and offering personalised preventive or therapeutic treatments. We review the progress made so far in AMD genetics and discuss the possible applications for genetic testing.

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Endothelial PAS Domain-Containing Protein 1 (EPAS1) Gene Polymorphisms and Response to Anti-VEGF Therapy in the Comparison of AMD Treatments Trials (CATT)

Cited by 15 publications

References 4 publications

A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration

A genetic variant in NRP1 is associated with worse response to ranibizumab treatment in neovascular age-related macular degeneration

Targeted therapy in age-related macular degeneration (AMD)

Genetics and genetic testing for age-related macular degeneration

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