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Genetic Polymorphisms in VEGFR Coding Genes (<i>FLT1</i>/<i>KDR</i>) on Ranibizumab Response in High Myopia and Choroidal Neovascularization Patients
oleh: David Blánquez-Martínez, Xando Díaz-Villamarín, Sonia García-Rodríguez, Alba Antúnez-Rodríguez, Ana Pozo-Agundo, Luis Javier Martínez-González, José Ignacio Muñoz-Ávila, Cristina Lucía Dávila-Fajardo
Format: | Article |
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Diterbitkan: | MDPI AG 2022-07-01 |
Deskripsi
A severe form of myopia defined as pathologic/high myopia is the main cause of visual impairment and one of the most frequent causes of blindness worldwide. It is characterized by at least 6 diopters or axial length (AL) of eyeball > 26 mm and choroidal neovascularization (CNV) in 5 to 10% of cases. Ranibizumab is a humanized recombinant monoclonal antibody fragment targeted against human vascular endothelial growth factor A (VEGF-A) used in the treatment of CNV. It acts by preventing VEGF-A from interacting with its receptors (VEGFR-1 and -2) encoded by the <i>FLT1</i> and <i>KDR</i> genes. Several studies found that the <i>KDR</i> and <i>FLT1</i> genotypes may represent predictive determinants of efficacy in ranibizumab-treated neovascular age-related macular degeneration (nAMD) patients. We performed a retrospective study to evaluate the association of single nucleotide polymorphisms (SNPs) in VEGFR coding genes with the response rate to ranibizumab in patients with high myopia and CNV. In the association study of genotypes in <i>FLT1</i> with the response to ranibizumab, we found a significant association between two <i>FLT1</i> variants (rs9582036, rs7993418) with ranibizumab efficacy at the 12-month follow-up. About the <i>KDR</i> gene, we found that two <i>KDR</i> variants (rs2305948, rs2071559) are associated with best-corrected visual acuity (BCVA) improvement and <i>KDR</i> (rs2239702) is associated with lower rates of BCVA worsening considering a 12-month follow-up period.