Pharmacy Department, Hospital Universitario Clínico San Cecilio-Instituto de Investigación Biosanitaria (ibs.Granada), 18016 Granada, Spain.
Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research (GENYO), 18016 Granada, Spain.
Genes (Basel). 2020 Nov 12;11(11):1335. doi: 10.3390/genes11111335.
Polypoidal choroidal vasculopathy (PCV) is usually regarded as a subtype of choroidal neovascularization (CNV) that is secondary to age-related macular degeneration (AMD) characterized by choroidal vessel branching, ending in polypoidal lesions. Despite their close association, PCV and neovascular AMD have shown differences, especially regarding patients' treatment response. Currently, antivascular endothelial growth factor (anti-VEGF) drugs, such as ranibizumab, bevacizumab and aflibercept, have demonstrated their efficacy in CNV patients. However, in PCV, anti-VEGF treatments have shown inconclusive results. Many genetic polymorphisms have been associated with a variable response in exudative/wet AMD patients. Thus, the aim of this study is to explore the genetic variants affecting anti-VEGF drug response in PCV patients. In this regard, we performed a systematic review and meta-analysis. We found four variants (, , and ) that have been significantly related to response. Among them, the variant is assessed in our meta-analysis. In conclusion, in order to implement anti-VEGF pharmacogenetics in clinical routines, further studies should be performed, distinguishing physio-pathogenic circumstances between PCV and exudative AMD and the combined effect on treatment response of different genetic variants.
息肉状脉络膜血管病变（PCV）通常被认为是年龄相关性黄斑变性（AMD）继发脉络膜新生血管（CNV）的一种亚型，其特征为脉络膜血管分支，最终形成息肉状病变。尽管它们密切相关，但 PCV 和新生血管性 AMD 已显示出不同之处，尤其是在患者的治疗反应方面。目前，抗血管内皮生长因子（anti-VEGF）药物，如雷珠单抗、贝伐单抗和阿柏西普，已证明其在 CNV 患者中的疗效。然而，在 PCV 中，anti-VEGF 治疗的结果并不明确。许多遗传多态性与渗出性/湿性 AMD 患者的治疗反应存在差异有关。因此，本研究旨在探讨影响 PCV 患者抗 VEGF 药物反应的遗传变异。为此，我们进行了系统评价和荟萃分析。我们发现了四个与反应相关的显著变异（、、和）。其中，变体在我们的荟萃分析中进行了评估。总之，为了将抗 VEGF 药物遗传学应用于临床常规，应该进行进一步的研究，区分 PCV 和渗出性 AMD 之间的生理病理情况，以及不同遗传变异对治疗反应的联合影响。
