A pharmacogenetics study to predict outcome in patients receiving anti-VEGF therapy in age related macular degeneration

Clin Ophthalmol. 2013;7:1987-93. doi: 10.2147/OPTH.S39635. Epub 2013 Oct 10.


Purpose: To ascertain whether single nucleotide polymorphisms (SNPs) in the Vascular Endothelial Growth factor (VEGFA), Complement Factor H (CFH), and LOC387715 genes could predict outcome to anti-VEGF therapy for patients with age related macular degeneration (AMD).

Methods: Patients with "wet" AMD were identified by chart review. Baseline optical coherence tomography (OCT) and visual acuity (VA) data, and at least 6 months of clinical follow up after 3 initial monthly injections of bevacizumab or ranibizumab were required for inclusion. Based on OCT and VA, patients were categorized into two possible clinical outcomes: (a) responders and (b) non-responders. DNA was extracted from saliva and genotyped for candidate SNPs in the VEGFA, LOC387715, and CFH genes. Clinical outcomes were statistically compared to patient genotypes.

Results: 101 patients were recruited, and one eye from each patient was included in the analysis. 97% of samples were successfully genotyped for all SNPs. We found a statistically significant association between the LOC387715 A69S TT genotype and outcome based on OCT.

Conclusion: Genetic variation may be associated with outcome in patients receiving anti-VEGF therapy.

Keywords: ARMS2; LOC387715; age related macular degeneration; bevacizumab; complement factor H (CFH); ranibizumab; single nucleotide polymorphisms; vascular endothelial growth factor.