Kubicka-Trząska Agnieszka, Karska-Basta Izabella, Kobylarz Joanna, Dziedzina Sylwia, Sanak Marek, Romanowska-Dixon Bożena
Klin Oczna. 2016;118(2):114-21.
To analyze the correlation between the E318D rs9332739 polymorphism of the C2 complement factor; R102G rs2230199 polymorphism of the C3 complement factor as well as the Y402H rs1061170 polymorphism of the CFH complement factor and risk of AMD as well as the response to anti-VEGF therapy.
106 patients with age-related macular degeneration treated with intravitreal ranibizumab or bevacizumab were enrolled. The response to treatment was assessed at 4 weeks intervals for 6 months and was based on the results of best corrected visual acuity and central retinal thickness measurements compared to the respective baseline values. The control group consisted of 58 healthy volunteers. The testing was performed using genetic probes (TaqMan Applied Biosystems) in all cases
E318D (C2) and R102G (C3) polymorphisms were not associated with age-related macular degeneration. The genotype CC of Y402H (CFH) polymorphism was more frequent in patients with age-related macular degeneration as compared to controls [OR=3.09 (1.28–7.49); p=0.0069]. At the last follow-up, patients with age-related macular degeneration positive for the CC rs1061170 CFH genotype presented with worse best corrected visual acuity and increased central retinal thickness as compared to their counterparts negative for this genotype [OR=7.67 (1.77–33.12), p=0.0052]. Among 25.47% of “non-responders”, the CC rs1061170 CFH genotype was present in 51.8% of cases. In patients with the TT rs1061170 CFH genotype the final best corrected visual acuity was better and a significant reduction of central retinal thickness was demonstrated in all those cases, as compared to subjects with the CC rs1061170 CFH genotype [OR=0.31 (0.11-0.84), p=0.0194].
The study showed that the CC rs1061170 CFH genotype may be associated with the age-related macular degeneration. Additionally, the CC rs1061170 CFH genotype may promote a negative response to anti-VEGF treatment, while patients with the TT rs1061170 CFH genotype showed better functional and structural response to anti-VEGF agents.
分析C2补体因子的E318D rs9332739多态性、C3补体因子的R102G rs2230199多态性以及CFH补体因子的Y402H rs1061170多态性与年龄相关性黄斑变性（AMD）风险及抗VEGF治疗反应之间的相关性。
纳入106例接受玻璃体内注射雷珠单抗或贝伐单抗治疗的年龄相关性黄斑变性患者。治疗反应每4周评估一次，持续6个月，基于最佳矫正视力和视网膜中央厚度测量结果与各自基线值进行比较。对照组由58名健康志愿者组成。所有病例均使用基因探针（TaqMan Applied Biosystems）进行检测。
E318D（C2）和R102G（C3）多态性与年龄相关性黄斑变性无关。与对照组相比，年龄相关性黄斑变性患者中Y402H（CFH）多态性的CC基因型更为常见[比值比（OR）=3.09（1.28 - 7.49）；p = 0.0069]。在最后一次随访时，rs1061170 CFH基因型CC阳性的年龄相关性黄斑变性患者与该基因型阴性的患者相比，最佳矫正视力更差，视网膜中央厚度增加[OR = 7.67（1.77 - 33.12），p = 0.0052]。在25.47%的“无反应者”中，rs1061170 CFH基因型CC在51.8%的病例中出现。与rs1061170 CFH基因型CC的受试者相比，rs1061170 CFH基因型TT的患者最终最佳矫正视力更好，且所有这些病例的视网膜中央厚度均有显著降低[OR = 0.31（0.11 - 0.84），p = 0.0194]。
该研究表明，rs1061170 CFH基因型CC可能与年龄相关性黄斑变性有关。此外，rs1061170 CFH基因型CC可能会促进对抗VEGF治疗的负面反应，而rs1061170 CFH基因型TT的患者对抗VEGF药物表现出更好的功能和结构反应。
