scholarly journals GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Moeen Riaz ◽  
Laura Lorés-Motta ◽  
Andrea J. Richardson ◽  
Yi Lu ◽  
Grant Montgomery ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Treatment Response ◽  
Age Related Macular Degeneration ◽  
Dna Pooling ◽  
Gwas Study ◽  
Anti Vegf ◽  
Age Related ◽  
Pooling Strategy

scholarly journals Genetic biomarkers in the VEGF pathway predicting response to anti-VEGF therapy in age-related macular degeneration

2019 ◽  
Vol 4 (1) ◽  
pp. e000273
Author(s):  
Irina Balikova ◽  
Laurence Postelmans ◽  
Brigitte Pasteels ◽  
Pascale Coquelet ◽  
Janet Catherine ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Macular Degeneration ◽  
Treatment Response ◽  
Multiple Testing ◽  
Age Related Macular Degeneration ◽  
Patient Specific ◽  
Multiple Testing Correction ◽  
Anti Vegf ◽  
Age Related ◽  
Vegf Pathway

ObjectiveAge-related macular degeneration (ARMD) is a leading cause of visual impairment. Intravitreal injections of anti-vascular endothelial growth factor (VEGF) are the standard treatment for wet ARMD. There is however, variability in patient responses, suggesting patient-specific factors influencing drug efficacy. We tested whether single nucleotide polymorphisms (SNPs) in genes encoding VEGF pathway members contribute to therapy response.Methods and analysisA retrospective cohort of 281 European wet ARMD patients treated with anti-VEGF was genotyped for 138 tagging SNPs in the VEGF pathway. Per patient, we collected best corrected visual acuity at baseline, after three loading injections and at 12 months. We also registered the injection number and changes in retinal morphology after three loading injections (central foveal thickness (CFT), intraretinal cysts and serous neuroepithelium detachment). Changes in CFT after 3 months were our primary outcome measure. Association of SNPs to response was assessed by binomial logistic regression. Replication was attempted by associating visual acuity changes to genotypes in an independent Japanese cohort.ResultsAssociation with treatment response was detected for seven SNPs, including in FLT4 (rs55667289: OR=0.746, 95% CI 0.63 to 0.88, p=0.0005) and KDR (rs7691507: OR=1.056, 95% CI 1.02 to 1.10, p=0.005; and rs2305945: OR=0.963, 95% CI 0.93 to 1.00, p=0.0472). Only association with rs55667289 in FLT4 survived multiple testing correction. This SNP was unavailable for testing in the replication cohort. Of six SNPs tested for replication, one was significant although not after multiple testing correction.ConclusionIdentifying genetic variants that define treatment response can help to develop individualised therapeutic approaches for wet ARMD patients and may point towards new targets in non-responders.

Predictors of anti-VEGF treatment response in neovascular age-related macular degeneration

2014 ◽  
Vol 59 (1) ◽  
pp. 1-18 ◽  
Author(s):  
Robert P. Finger ◽  
Sanjeewa S. Wickremasinghe ◽  
Paul N. Baird ◽  
Robyn H. Guymer
Keyword(s):  
Macular Degeneration ◽  
Treatment Response ◽  
Age Related Macular Degeneration ◽  
Anti Vegf ◽  
Age Related

CFH Y402H and VEGF Polymorphisms and Anti-VEGF Treatment Response in Exudative Age-Related Macular Degeneration

2016 ◽  
Vol 56 (3) ◽  
pp. 132-138 ◽  
Author(s):  
Burcin Kepez Yildiz ◽  
Sengul Ozdek ◽  
Mehmet Ali Ergun ◽  
Sezen Ergun ◽  
Fulya Yaylacioglu Tuncay ◽  
...  
Keyword(s):  
Macular Degeneration ◽  
Treatment Response ◽  
Age Related Macular Degeneration ◽  
Anti Vegf ◽  
Age Related ◽  
Vegf Polymorphisms

scholarly journals Meta-analysis of the pharmacogenetics of ARMS2 A69S polymorphism and the response to advanced age-related macular degeneration

2019 ◽  
Author(s):  
Jun Zhang ◽  
Zhaohui Liu ◽  
Shuqiong Hu ◽  
Jian Qi
Keyword(s):  
Macular Degeneration ◽  
Treatment Response ◽  
Meta Analysis ◽  
East Asian ◽  
Age Related Macular Degeneration ◽  
Large Sample Size ◽  
Clinical Prognosis ◽  
Anti Vegf ◽  
Age Related ◽  
Arms2 A69s

Abstract Background Age-related macular degeneration (AMD) causes irreversible vision loss, and targeted anti-vascular endothelial growth factor (VEGF) therapy is now the most common and effective treatment. The aim of this meta-analysis is to discuss whether genetic polymorphism of ARMS2 A69S could confer susceptibility to advanced AMD with the response to anti-VEGF treatment.Methods We performed a meta-analysis of relevant published studies selected through electronic databases. A total of 21 preferred studies regarding the association between ARMS2 gene and anti-VEGF treatment response in advanced AMD were generally included in the meta-analysis.Results The pooled results demonstrated that the carriage of G allele for ARMS2 A69S presented a better clinical prognosis for advanced AMD treated with anti-VEGF drugs (OR=1.38, 95% CI=1.13-1.69, P=0.002). Additionally, in the subgroup analysis based on ethnicity, ARMS2 polymorphisms were more likely to be a positive responder for East Asian patients (OR=1.67, 95% CI=1.29-2.16, P<0.001).Conclusion This meta-analysis through a series of rigorous methodology data demonstrated a significant association between ARMS2 A69S polymorphism and the anti-VEGF treatment response in advanced AMD, especially among East Asian population. Numerous well-designed, randomized, multicenter clinical trials with large sample size are required to validate the association.

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