Díaz-Villamarín, XandoBlánquez-Martínez, DavidPozo-Agundo, AnaPérez-Gutiérrez, Ana MaríaMuñoz-Ávila, José IgnacioAntúnez-Rodríguez, AlbaFernández-Gómez, Ana EstefaníaGarcía-Navas, PalomaMartínez-González, Luis JavierDávila-Fajardo, Cristina Lucía2022-03-292022-03-292020-11-12Díaz-Villamarín X, Blánquez-Martínez D, Pozo-Agundo A, Pérez-Gutiérrez AM, Muñoz-Ávila JI, Antúnez-Rodríguez A, et al. Genetic Variants Affecting Anti-VEGF Drug Response in Polypoidal Choroidal Vasculopathy Patients: A Systematic Review and Meta-Analysis. Genes. 2020 Nov 12;11(11):1335.http://hdl.handle.net/10668/3498Polypoidal 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.enAtribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/PharmacogeneticsPersonalized medicineSNPAnti-VEGFPolypoidal choroidalvasculopathyFarmacogenéticaMedicina de precisiónPolimorfismo de nucleótido simpleFactor A de crecimiento endotelial vascularNeovascularización coroidalMedical Subject Headings::Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Therapeutic Uses::Antineoplastic Agents::Angiogenesis InhibitorsMedical Subject Headings::Chemicals and Drugs::Biological Factors::Biological Markers::Biomarkers, PharmacologicalMedical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Metaplasia::Neovascularization, Pathologic::Choroidal NeovascularizationMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Ophthalmological::Fluorescein AngiographyMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic VariationMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::GenotypeHigh-Temperature Requirement A Serine Peptidase 1Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::HumansPolymorphism, Single NucleotideMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::ProteinsMedical Subject Headings::Diseases::Eye Diseases::Retinal Diseases::Retinal DegenerationMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Intercellular Signaling Peptides and Proteins::Angiogenic Proteins::Vascular Endothelial Growth Factors::Vascular Endothelial Growth Factor AMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Ophthalmological::Vision Tests::Visual AcuityMedical Subject Headings::Diseases::Eye Diseases::Retinal Diseases::Retinal Degeneration::Macular Degeneration::Wet Macular Degenerationreview article33198211open access10.3390/genes111113352073-4425PMC7697983