HTRA1 rs11200638 and ARMS2 rs10490924 gene polymorphisms and response to intravitreal anti-VEGF treatment in patients with exudative age-related macular degeneration

Aim
To analyze the correlation between HTRA1 rs11200638 and ARMS2 rs10490924 gene polymorphisms and the response to ranibizumab and bevacizumab in patients with age-related macular degeneration.

Material and methods
A hundred and four patients were enrolled. The response to treatment measured as the change of best corrected visual acuity and central retinal thickness from baseline was assessed at 4-week intervals for 6 months. No response to anti-VEGF therapy was defined as no improvement or deterioration of best corrected visual acuity ≥ 1 line (Snellen) and reduction in central retinal thickness ≤ 10% on optical coherence tomography after the loading phase.

Results
Most patients with age-related macular degeneration had AA genotype of HTRA1 rs11200638 polymorphism which presence increases the risk of age-related macular degeneration 12-fold as compared to patients negative for this genotype (p = 0.0028). The AA HTRA2 rs11200638 genotype demonstrated a tendency towards worse response to anti-VEGF therapy, however the difference was not significant. Among 22.11% of non-responders, 59.25% of patients had genotype AA of HTRA1 rs1100638. The genotype TT in ARMS2 rs10490924 polymorphism was associated with a risk of age-related macular degeneration increased 14-fold as compared to individuals negative for this genotype (p = 0.0000). There was no association between any of the ARMS2 rs10490924 genotypes and the response to anti-VEGF therapy.

Conclusions
The study demonstrated the associations between HTRA1 rs1100628 and ARMS2 rs10490924 polymorphisms and a significantly increased risk of age-related macular degeneration. There was no association between any of the studied HTRA1 and ARMS2 polymorphism genotypes and the anti-VEGF therapy results.