Background: Age-related macular degeneration (AMD) affects the central part of the retina and causes blindness. In developed countries, AMD occurs in people over 50 years old. Important factors for AMD pathogenesis are an immune response, inflammation, and genetic factors. This study aimed to determine the impact of IL1RL1 rs1041973 and IL1RAP rs4624606 single nucleotide polymorphisms (SNPs) on the occurrence of AMD and the outcome of treatment with aflibercept and bevacizumab. Patients and Methods: 563 patients with AMD and 281 healthy candidates were evaluated. Patients with exudative AMD were treated with intravitreal bevacizumab and aflibercept and, after 6 months based on the changes in best-corrected visual acuity and central macular thickness, were classified as ‘responders’ or ‘poor-responders’. Genotyping of IL1RL1 rs1041973 and IL1RAP rs4624606 was accomplished using real-time PCR. Age was compared using the Mann-Whitney U-test. Categorical data (gender, genotype, and allele distributions) compared between groups using the χ2 test or the Fisher's exact test. Associations of gene polymorphisms were calculated using logistic regression analysis with adjustment for age in exudative and atrophic AMD analysis. An adjusted significance threshold for multiple comparisons α=0.025 was applied. Results: Statistically significant differences in the distribution of IL1RAP rs4624606 genotypes (TT, TA and AA) were found between males with atrophic AMD and controls: 50%, 42.9% and 7.1% vs. 69.7%, 30.3% and 0%, respectively, p=0.015. Moreover, we found that ‘responders’ had a significantly better best-corrected visual acuity than ‘poor-responders’ before treatment (p=0.032). The central macular thickness was significantly lower in exudative AMD patients with IL1RL1 rs1041973 AA genotype than in wild type and heterozygous (CC+CA) genotype carriers before treatment (p=0.017). Conclusion: IL1RAP rs4624606 may be associated with atrophic AMD in males while IL1RL1 rs1041973 may play a protective role against macular thickening in exudative AMD patients.

中文翻译：

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IL1RL1 和 IL1RAP 基因中 SNP 在年龄相关性黄斑变性发展和治疗效果中的作用

背景：年龄相关性黄斑变性 (AMD) 影响视网膜的中央部分并导致失明。在发达国家，AMD 发生在 50 岁以上的人群中。AMD 发病机制的重要因素是免疫反应、炎症和遗传因素。本研究旨在确定 IL1RL1 rs1041973 和 IL1RAP rs4624606 单核苷酸多态性 (SNP) 对 AMD 发生以及阿柏西普和贝伐单抗治疗结果的影响。患者和方法：评估了 563 名 AMD 患者和 281 名健康候选人。渗出性 AMD 患者接受玻璃体内注射贝伐单抗和阿柏西普治疗，6 个月后根据最佳矫正视力和中央黄斑厚度的变化，将其归类为“反应者”或“反应者差”。使用实时 PCR 完成 IL1RL1 rs1041973 和 IL1RAP rs4624606 的基因分型。使用 Mann-Whitney U 检验比较年龄。使用 χ2 检验或 Fisher 精确检验比较组间的分类数据（性别、基因型和等位基因分布）。使用逻辑回归分析计算基因多态性的关联，并在渗出性和萎缩性 AMD 分析中调整年龄。应用了多重比较的调整显着性阈值 α = 0.025。结果：IL1RAP rs4624606 基因型（TT、TA 和 AA）的分布在患有萎缩性 AMD 的男性和对照组之间存在统计学显着差异：分别为 50%、42.9% 和 7.1% 对 69.7%、30.3% 和 0%， p=0.015。而且，我们发现“响应者”在治疗前的最佳矫正视力明显优于“响应不佳者”（p=0.032）。具有 IL1RL1 rs1041973 AA 基因型的渗出性 AMD 患者的中央黄斑厚度显着低于治疗前的野生型和杂合 (CC+CA) 基因型携带者 (p=0.017)。结论：IL1RAP rs4624606 可能与男性萎缩性 AMD 相关，而 IL1RL1 rs1041973 可能对渗出性 AMD 患者的黄斑增厚起保护作用。