Publication:
Genetic Polymorphisms Affecting Ranibizumab Response in High Myopia Patients

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2021-11-20

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Blánquez-Martínez, David
Díaz-Villamarín, Xando
Antúnez-Rodríguez, Alba
Pozo-Agundo, Ana
Muñoz-Ávila, José Ignacio
Martínez-González, Luis Javier
Dávila-Fajardo, Cristina Lucía

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MDPI
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High myopia is an ophthalmic pathology that affects half of the young adults in the United States and Europe and it is predicted that a third of the world's population could be nearsighted at the end of this decade. It is characterized by at least 6 diopters or axial length > 26 mm and, choroidal neovascularization (CNV) in 5 to 11% of cases. Ranibizumab is a recombinant humanized monoclonal antibody fragment. It is an anti-vascular endothelial growth factor (anti-VEGF) drug used in the treatment of CNV. Many genetic polymorphisms have been associated with interindividual differences in the response to ranibizumab, but these associations were not yet assessed among patients with high myopia and CNV. We performed a retrospective study assessing the association of genetic polymorphisms with response to ranibizumab in patients with CNV secondary to high myopia (mCNV). We included genetic polymorphisms previously associated with the response to drugs used in CNV patients (bevacizumab, ranibizumab, aflibercept, and photodynamic therapy (PDT)). We also included genetic variants in the VEGFA gene. Based on our results, ARMS2 (rs10490924) and CFH (rs1061170) are associated with response to ranibizumab in high myopia patients; and, included VEGFA genetic polymorphisms are not associated with ranibizumab response in our population but might be related to a higher risk of CNV.

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Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Persons::Persons::Age Groups::Adult::Young Adult
Medical Subject Headings::Geographical Locations::Geographic Locations::Americas::North America::United States
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Metaplasia::Neovascularization, Pathologic::Choroidal Neovascularization
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies::Retrospective Studies
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Phototherapy
Medical Subject Headings::Diseases::Eye Diseases::Refractive Errors::Myopia
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic
Medical Subject Headings::Geographical Locations::Geographic Locations::Europe

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Myopia, Pharmacogenetic, Genetic polymorphism, Personalized medicine, Ranibizumab, Anti-VEGF, VEGFA, CFH, ARMS2, Miopía, Pruebas de farmacogenómica, Polimorfismo genético, Medicina de precisión, Factores de crecimiento endotelial, Factor A de crecimiento endotelial vascular

Citation

Blánquez-Martínez D, Díaz-Villamarín X, Antúnez-Rodríguez A, Pozo-Agundo A, Muñoz-Ávila JI, Martínez-González LJ, et al. Genetic Polymorphisms Affecting Ranibizumab Response in High Myopia Patients. Pharmaceutics. 2021 Nov 20;13(11):1973