Genetic Polymorphisms in VEGFR Coding Genes (FLT1/KDR) on Ranibizumab Response in High Myopia and Choroidal Neovascularization Patients
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Blánquez Martínez, David; Díaz Villamarín, Xando; García Rodríguez, Sonia; Antúnez Rodríguez, Alba; Pozo Agundo, Ana; Martínez González, Luis Javier; Muñoz Ávila, José Ignacio; Dávila Fajardo, Cristina LucíaEditorial
MDPI
Materia
Pharmacogenetics Myopia Ranibizumab Precision medicine VEGFR anti-VEGF FLT1 KDR
Date
2022-07-26Referencia bibliográfica
Blánquez-Martínez, D... [et al.]. Genetic Polymorphisms in VEGFR Coding Genes (FLT1/KDR) on Ranibizumab Response in High Myopia and Choroidal Neovascularization Patients. Pharmaceutics 2022, 14, 1555. [https://doi.org/10.3390/pharmaceutics14081555]
Abstract
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
FLT1 and KDR genes. Several studies found that the KDR and FLT1 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 FLT1 with the response to
ranibizumab, we found a significant association between two FLT1 variants (rs9582036, rs7993418)
with ranibizumab efficacy at the 12-month follow-up. About the KDR gene, we found that two KDR
variants (rs2305948, rs2071559) are associated with best-corrected visual acuity (BCVA) improvement
and KDR (rs2239702) is associated with lower rates of BCVA worsening considering a 12-month
follow-up period.