Clinic of Ophtalmology and Ocular Oncology, Department of Ophtalmology, Faculty of Medicine, Jagiellonian University Medical College, 31-501 Krakow, Poland.
Molecular Biology and Clinical Genetics Unit, Department of Internal Medicine, Faculty of Medicine, Jagiellonian University Medical College, 31-501 Krakow, Poland.
Medicina (Kaunas). 2022 May 13;58(5):658. doi: 10.3390/medicina58050658.
: To assess the association between the single nucleotide polymorphisms (SNPs) in the genes encoding complement factors CFH, C2, and C3 (Y402H rs1061170, R102G rs2230199, and E318D rs9332739, respectively) and response to intravitreal anti-vascular endothelial growth factor (VEGF) therapy in patients with exudative age-related macular degeneration (AMD). : The study included 111 patients with exudative AMD treated with intravitreal bevacizumab or ranibizumab injections. Response to therapy was assessed on the basis of best-corrected visual acuity (BCVA) and central retinal thickness (CRT) measured every 4 weeks for 12 months. The control group included 58 individuals without AMD. The SNPs were genotyped by a real-time polymerase chain reaction in genomic DNA isolated from peripheral blood samples. : The CC genotype in SNP rs1061170 of the gene was more frequent in patients with AMD than in controls ( = 0.0058). It was also more common among the 28 patients (25.2%) with poor response to therapy compared with good responders ( = 0.0002). Poor responders, especially those without this genotype, benefited from switching to another anti-VEGF drug. At the last follow-up assessment, carriers of this genotype had significantly worse BCVA ( = 0.0350) and greater CRT ( = 0.0168) than noncarriers. TT genotype carriers showed improved BCVA ( = 0.0467) and reduced CRT compared with CC and CT genotype carriers ( = 0.0194). No associations with AMD or anti-VEGF therapy outcomes for SNP rs9332739 in the gene and SNP rs2230199 in the gene were found. : The CC genotype for SNP rs1061170 in the gene was associated with AMD in our population. Additionally, it promoted a poor response to anti-VEGF therapy. On the other hand, TT genotype carriers showed better functional and anatomical response to anti-VEGF therapy at 12 months than carriers of the other genotypes for this SNP.
评估编码补体因子 CFH、C2 和 C3 的基因中的单核苷酸多态性（SNPs）（分别为 Y402H rs1061170、R102G rs2230199 和 E318D rs9332739）与接受血管内皮生长因子（VEGF）治疗的渗出性年龄相关性黄斑变性（AMD）患者的反应之间的关系。
该研究纳入了 111 名接受玻璃体内贝伐单抗或雷珠单抗注射治疗的渗出性 AMD 患者。根据治疗后 12 个月每 4 周测量的最佳矫正视力（BCVA）和中心视网膜厚度（CRT）来评估治疗反应。对照组包括 58 名无 AMD 的个体。通过从外周血样本中提取的基因组 DNA 进行实时聚合酶链反应对 SNPs 进行基因分型。
基因中的 SNP rs1061170 的 CC 基因型在 AMD 患者中比对照组更常见（=0.0058）。在 28 名治疗反应不佳的患者（25.2%）中也更为常见，而在反应良好的患者中则不常见（=0.0002）。与其他抗 VEGF 药物相比，反应不佳的患者，特别是那些没有这种基因型的患者，从转换为另一种抗 VEGF 药物中受益。在最后一次随访评估中，该基因型的携带者的 BCVA 明显较差（=0.0350），CRT 更大（=0.0168），而非携带者则没有这种基因型。与 CC 和 CT 基因型携带者相比，TT 基因型携带者的 BCVA 改善（=0.0467），CRT 降低（=0.0194）。在我们的人群中，基因中的 SNP rs9332739 和基因中的 SNP rs2230199 与 AMD 或抗 VEGF 治疗结果均无关联。
基因中的 SNP rs1061170 的 CC 基因型与我们人群中的 AMD 相关。此外，它还促进了对抗 VEGF 治疗的不良反应。另一方面，与其他基因型的携带者相比，在 12 个月时，TT 基因型携带者对抗 VEGF 治疗的功能和解剖反应更好。
