Istituto di Biochimica Clinica, Università Cattolica del S Cuore, Rome, Italy.
Neurobiol Aging. 2012 Aug;33(8):1852.e5-12. doi: 10.1016/j.neurobiolaging.2012.03.008. Epub 2012 May 1.
Two major susceptibility genes, complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2), have been implicated in age-related macular degeneration (AMD) pathogenesis. We analyzed the association between CFH rs1061170 and/or ARMS2 rs10490924 polymorphisms with central retinal function properties, as evaluated by focal electroretinogram (fERG). Forty early AMD patients, with preserved visual acuity and typical macular lesions, underwent fERG recording (in response to 41 Hz flicker stimuli presented to the central 18 degrees) and CFH/ARMS2 genotyping. Mean fERG amplitude and sensitivity decreased in patients carrying CFH rs1061170 polymorphism (p < 0.01), compared with wild type ones, although visual acuity and funduscopic features were similar across the 2 groups. No significant fERG phase changes were observed. No association was detected between ARMS2 (rs10490924) polymorphism and fERG parameters. Our findings indicate that CFH (rs1061170) polymorphism impacts significantly on retinal function in early AMD patients, and support the hypothesis that dysfunctional CFH might result in early retinal function loss due to a reduction in the immune antioxidant defense mechanism.
两个主要的易感性基因，补体因子 H（CFH）和年龄相关性黄斑变性易感性 2（ARMS2），与年龄相关性黄斑变性（AMD）的发病机制有关。我们分析了 CFH rs1061170 和/或 ARMS2 rs10490924 多态性与中心视网膜功能特性之间的关联，通过焦点视网膜电图（fERG）评估。40 名早期 AMD 患者，视力保留和典型的黄斑病变，进行 fERG 记录（对中央 18 度的 41 Hz 闪烁刺激作出反应）和 CFH/ARMS2 基因分型。与野生型相比，携带 CFH rs1061170 多态性的患者的 fERG 振幅和敏感性降低（p < 0.01），尽管视力和眼底特征在两组之间相似。没有观察到 fERG 相位的显著变化。在 ARMS2（rs10490924）多态性和 fERG 参数之间未发现关联。我们的研究结果表明，CFH（rs1061170）多态性对早期 AMD 患者的视网膜功能有显著影响，并支持这样的假设，即功能失调的 CFH 可能由于免疫抗氧化防御机制的降低而导致早期视网膜功能丧失。
