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Review

Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis

1
Pharmacy Department, Hospital Universitario Clínico San Cecilio—Instituto de Investigación Biosanitaria (ibs.Granada), 18016 Granada, Spain
2
Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research (GENYO), 18016 Granada, Spain
3
Pharmacy Department, Hospital Universitario de Ceuta, 51003 Ceuta, Spain
4
Department of Biochemistry and Molecular Biology II, School of Pharmacy, University of Granada, 18011 Granada, Spain
5
Ophthalmology Department—Hospital Universitario Clínico San Cecilio, 18016 Granada, Spain
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Genes 2020, 11(11), 1335; https://doi.org/10.3390/genes11111335
Received: 20 October 2020 / Revised: 9 November 2020 / Accepted: 10 November 2020 / Published: 12 November 2020
Polypoidal choroidal vasculopathy (PCV) is usually regarded as a subtype of choroidal neovascularization (CNV) that is secondary to age-related macular degeneration (AMD) characterized by choroidal vessel branching, ending in polypoidal lesions. Despite their close association, PCV and neovascular AMD have shown differences, especially regarding patients’ treatment response. Currently, antivascular endothelial growth factor (anti-VEGF) drugs, such as ranibizumab, bevacizumab and aflibercept, have demonstrated their efficacy in CNV patients. However, in PCV, anti-VEGF treatments have shown inconclusive results. Many genetic polymorphisms have been associated with a variable response in exudative/wet AMD patients. Thus, the aim of this study is to explore the genetic variants affecting anti-VEGF drug response in PCV patients. In this regard, we performed a systematic review and meta-analysis. We found four variants (CFH I62V, CFH Y402H, ARMS2 A69S, and HTRA1-62A/G) that have been significantly related to response. Among them, the ARMS2 A69S variant is assessed in our meta-analysis. In conclusion, in order to implement anti-VEGF pharmacogenetics in clinical routines, further studies should be performed, distinguishing physio-pathogenic circumstances between PCV and exudative AMD and the combined effect on treatment response of different genetic variants. View Full-Text
Keywords: pharmacogenetics; personalized medicine; SNP; anti-VEGF; polypoidal choroidal vasculopathy pharmacogenetics; personalized medicine; SNP; anti-VEGF; polypoidal choroidal vasculopathy
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MDPI and ACS Style

Díaz-Villamarín, X.; Blánquez-Martínez, D.; Pozo-Agundo, A.; Pérez-Gutiérrez, A.M.; Muñoz-Ávila, J.I.; Antúnez-Rodríguez, A.; Fernández-Gómez, A.E.; García-Navas, P.; Martínez-González, L.J.; Dávila-Fajardo, C.L. Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis. Genes 2020, 11, 1335. https://doi.org/10.3390/genes11111335

AMA Style

Díaz-Villamarín X, Blánquez-Martínez D, Pozo-Agundo A, Pérez-Gutiérrez AM, Muñoz-Ávila JI, Antúnez-Rodríguez A, Fernández-Gómez AE, García-Navas P, Martínez-González LJ, Dávila-Fajardo CL. Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis. Genes. 2020; 11(11):1335. https://doi.org/10.3390/genes11111335

Chicago/Turabian Style

Díaz-Villamarín, Xando, David Blánquez-Martínez, Ana Pozo-Agundo, Ana María Pérez-Gutiérrez, José Ignacio Muñoz-Ávila, Alba Antúnez-Rodríguez, Ana Estefanía Fernández-Gómez, Paloma García-Navas, Luis Javier Martínez-González, and Cristina Lucía Dávila-Fajardo. 2020. "Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis" Genes 11, no. 11: 1335. https://doi.org/10.3390/genes11111335

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