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K. Mori, T. Tsuchihashi, K. Horie-Inoue, P. L. Gehlbach, S. Inoue, S. Yoneya; Association of the Gene Variants of Compliment Factor H and High-Temperature Requirement A-1 Genotypes With Response of Age-Related Macular Degeneration to Photodynamic Therapy. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1285.
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To determine whether there is an association between compliment factor H (CFH), high-temperature requirement A-1 (HTRA1), vascular endothelial growth factor (VEGF) and pigment epithelium-derived factor (PEDF) genotypes and response to treatment with photodynamic therapy (PDT) for age-related macular degeneration (AMD) in a Japanese population.
A hundred and ten patients with exudative AMD treated by verteporfin PDT were genotyped for four single nucleotide polymorphisms (SNPs; rs800292, rs1061170, rs1410996, rs2274700) in the CFH gene, a rs11200638-SNP in the HTRA1 gene, three SNPs (rs1570360, rs 2010963, rs2146323) in the VEGF gene and four SNPs (rs12150053, rs12948385, rs9913583, rs1136287) in the PEDF gene using a TaqMan assay.
Best corrected visual acuity (BCVA) one-year after PDT was significantly increased in patients with the HTRA1-rs11200638 GG genotype as compared to patients with the GA or AA genotypes (p=2.9×10-2, 7.0×10-4, respectively). The rate of recurrence in the 12 month period following PDT was also associated with HTRA1-rs11200638 genotype (p=3.12x x10-2). Patients with the AA genotype of HTRA1-rs11200638 had an approximately 6-fold higher risk of the recurrence than patients with the GG genotype (p=5.58×10-3). Significant differences were demonstrated in the mean time interval from the initial treatment to the time of recurrence for the genotypes of CFH-rs1410996/-rs2274700 (p=8.50×10-3).
The HTRA1-rs11200638 and CFH-rs1410996/-rs2274700 variants were associated with response to PDT in this study population. These variants may be utilized for genetic biomarkers to estimate visual outcomes and recurrences in the response to PDT with significant predictive power.
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