Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis
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 A...
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MDPI AG
2020-11-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/11/11/1335 |
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| author | Xando Díaz-Villamarín 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 Cristina Lucía Dávila-Fajardo |
| author_facet | Xando Díaz-Villamarín 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 Cristina Lucía Dávila-Fajardo |
| author_sort | Xando Díaz-Villamarín |
| collection | DOAJ |
| description | 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 (<i>CFH I62V</i>, <i>CFH Y402H</i>, <i>ARMS2 A69S,</i> and <i>HTRA1-62A/G</i>) that have been significantly related to response. Among them, the <i>ARMS2 A69S</i> 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. |
| first_indexed | 2024-03-10T14:55:03Z |
| format | Article |
| id | doaj.art-8800afdaa0064cf2987846bdb8d99e1b |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T14:55:03Z |
| publishDate | 2020-11-01 |
| publisher | MDPI AG |
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| series | Genes |
| spelling | doaj.art-8800afdaa0064cf2987846bdb8d99e1b2023-11-20T20:42:32ZengMDPI AGGenes2073-44252020-11-011111133510.3390/genes11111335Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-AnalysisXando Díaz-Villamarín0David Blánquez-Martínez1Ana Pozo-Agundo2Ana María Pérez-Gutiérrez3José Ignacio Muñoz-Ávila4Alba Antúnez-Rodríguez5Ana Estefanía Fernández-Gómez6Paloma García-Navas7Luis Javier Martínez-González8Cristina Lucía Dávila-Fajardo9Pharmacy Department, Hospital Universitario Clínico San Cecilio—Instituto de Investigación Biosanitaria (ibs.Granada), 18016 Granada, SpainPharmacy Department, Hospital Universitario de Ceuta, 51003 Ceuta, SpainPfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research (GENYO), 18016 Granada, SpainDepartment of Biochemistry and Molecular Biology II, School of Pharmacy, University of Granada, 18011 Granada, SpainOphthalmology Department—Hospital Universitario Clínico San Cecilio, 18016 Granada, SpainPfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research (GENYO), 18016 Granada, SpainPharmacy Department, Hospital Universitario Clínico San Cecilio—Instituto de Investigación Biosanitaria (ibs.Granada), 18016 Granada, SpainPharmacy Department, Hospital Universitario Clínico San Cecilio—Instituto de Investigación Biosanitaria (ibs.Granada), 18016 Granada, SpainPfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research (GENYO), 18016 Granada, SpainPharmacy Department, Hospital Universitario Clínico San Cecilio—Instituto de Investigación Biosanitaria (ibs.Granada), 18016 Granada, SpainPolypoidal 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 (<i>CFH I62V</i>, <i>CFH Y402H</i>, <i>ARMS2 A69S,</i> and <i>HTRA1-62A/G</i>) that have been significantly related to response. Among them, the <i>ARMS2 A69S</i> 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.https://www.mdpi.com/2073-4425/11/11/1335pharmacogeneticspersonalized medicineSNPanti-VEGFpolypoidal choroidal vasculopathy |
| spellingShingle | Xando Díaz-Villamarín 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 Cristina Lucía Dávila-Fajardo Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis Genes pharmacogenetics personalized medicine SNP anti-VEGF polypoidal choroidal vasculopathy |
| title | Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis |
| title_full | Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis |
| title_fullStr | Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis |
| title_full_unstemmed | Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis |
| title_short | Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis |
| title_sort | genetic variants affecting anti vegf drug response in polypoidal choroidal vasculopathy patients a systematic review and meta analysis |
| topic | pharmacogenetics personalized medicine SNP anti-VEGF polypoidal choroidal vasculopathy |
| url | https://www.mdpi.com/2073-4425/11/11/1335 |
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