Neuroscience Institute, Lithuanian University of Health Sciences, Medical Academy, Eiveniu St. 2, LT-50161 Kaunas, Lithuania.
Medical Academy, Lithuanian University of Health Sciences, A. Mickeviciaus St. 9, LT-44307 Kaunas, Lithuania.
Cells. 2022 Mar 15;11(6):996. doi: 10.3390/cells11060996.
Our study aimed to reveal the associations between SNPs (rs1570360, rs699947, rs3025033, and rs2146323), their haplotypes, VEGF-A and VEGF-R2 serum concentrations, and early and exudative AMD. A total of 339 subjects with early AMD and 419 with exudative AMD groups, and 374 healthy subjects, were genotyped for four SNPs (rs1570360, rs699947, rs3025033, and rs2146323). VEGF-A and VEGFR-2 serum concentrations were measured in exudative AMD and controls. The results revealed that rs3025033 G allele was significantly associated with lower odds of exudative AMD under the dominant model (OR = 0.67; 95% CI: 0.49-0.80; = 0.0088) and additive (OR = 0.7; 95% CI: 0.54-0.90; = 0.0058) models after Bonferroni correction. In the female group, rs3025033 AG genotype was associated with exudative AMD under the codominant model (OR = 0.57; 95% CI: 0.37-0.87; = 0.009) and G allele under the dominant (OR = 0.55; 95% CI: 0.37-0.82; = 0.0032) and additive models (OR = 0.60; 95% CI: 0.42-0.84; = 0.0028). Haplotype analysis revealed that individuals carrying rs1570360, rs699947, rs3025033, and rs2146323 haplotype A-A-G-A had decreased risk of exudative AMD (OR = 0.46, 95% CI: 0.23-0.90; = 0.023). The VEGF-A and VEGF-R2 serum concentrations did not differ between study groups; we found that patients with exudative AMD carrying at least one C allele at rs699947 have statistically significantly higher VEGF-A serum concentrations compared to AA genotype carriers (485.95 (945.93) vs. 194.97 (-), respectively, = 0.046). In conclusion, we found that rs3025033 and haplotype rs1570360A-rs699947A-rs3025033G- rs2146323A play a protective role for exudative AMD in the Caucasian population. Furthermore, rs699947 is associated with elevated VEGF-A serum concentrations in exudative AMD.
我们的研究旨在揭示 SNP（rs1570360、rs699947、rs3025033 和 rs2146323）及其单倍型、VEGF-A 和 VEGF-R2 血清浓度与早期和渗出性 AMD 之间的关联。共有 339 名早期 AMD 患者和 419 名渗出性 AMD 患者以及 374 名健康对照者接受了四个 SNP（rs1570360、rs699947、rs3025033 和 rs2146323）的基因分型。在渗出性 AMD 和对照组中测量了 VEGF-A 和 VEGFR-2 血清浓度。结果表明，在 Bonferroni 校正后，rs3025033 G 等位基因在显性模型（OR = 0.67；95%CI：0.49-0.80； = 0.0088）和加性模型（OR = 0.7；95%CI：0.54-0.90； = 0.0058）下与渗出性 AMD 的较低发病风险显著相关。在女性组中，rs3025033 AG 基因型在共显性模型（OR = 0.57；95%CI：0.37-0.87； = 0.009）和显性模型（OR = 0.55；95%CI：0.37-0.82； = 0.0032）和加性模型（OR = 0.60；95%CI：0.42-0.84； = 0.0028）下与渗出性 AMD 相关。单体型分析表明，携带 rs1570360、rs699947、rs3025033 和 rs2146323 单体型 A-A-G-A 的个体发生渗出性 AMD 的风险降低（OR = 0.46，95%CI：0.23-0.90； = 0.023）。VEGF-A 和 VEGF-R2 血清浓度在研究组之间没有差异；我们发现，携带 rs699947 至少一个 C 等位基因的渗出性 AMD 患者的 VEGF-A 血清浓度明显高于 AA 基因型携带者（分别为 485.95（945.93）和 194.97（-）， = 0.046）。总之，我们发现 rs3025033 和单体型 rs1570360A-rs699947A-rs3025033G- rs2146323A 在高加索人群中对渗出性 AMD 具有保护作用。此外，rs699947 与渗出性 AMD 中 VEGF-A 血清浓度升高相关。
