Ophthalmic Genetics ( IF 1.2 ) Pub Date : 2020-10-30 , DOI: 10.1080/13816810.2020.1839916 Vaida Punyte 1 , Alvita Vilkeviciute 1, 2 , Greta Gedvilaite 1, 2 , Loresa Kriauciuniene 1, 2 , Rasa Liutkeviciene 1, 2
ABSTRACT
Background
The etiology of the inflammatory ON is multifactorial. Much attention is paid to the inflammatory and immune processes that are likely to contribute to the demyelination and MS development. IL-6, VEGFA, and TIMP-3 genes are thought to be involved in the inflammatory processes and manifestation of CNS demyelination, so we aimed to determine the relationship between VEGFA rs1413711, TIMP-3 rs9621532, IL-6 rs1800796 gene polymorphisms and ON, and ON with MS.
Materials and methods
Patients with ON, ON with MS, and a random sample of healthy population were enrolled. The genotyping of VEGFA rs1413711, TIMP-3 rs9621532, and IL-6 rs1800796 polymorphisms was carried out using the real-time polymerase chain reaction method.
Results
T/C and C/C genotypes of VEGFA rs1413711 were associated with about threefold increased odds of developing ON in the dominant and codominant models. Each allele C at VEGFA rs1413711 was associated with 1.7-fold increased odds of ON development. IL-6 rs1800796 allele C was more frequent in the ON with MS group compared to the control: 17.6% vs. 7.5%, respectively (p = .040). No statistically significant associations were found between TIMP-3 rs9621532 and the ON development.
Conclusion: VEGFA
rs1413711 is associated with the ON development.
中文翻译:
VEGFA、TIMP-3、IL-6基因多态性与视神经炎和视神经炎伴多发性硬化易感性的相关性
摘要
背景
炎性 ON 的病因是多因素的。人们非常关注可能导致脱髓鞘和 MS 发展的炎症和免疫过程。IL-6、VEGFA和TIMP-3基因被认为参与了 CNS 脱髓鞘的炎症过程和表现,因此我们旨在确定VEGFA rs1413711、TIMP-3 rs9621532、IL-6 rs1800796 基因多态性与 ON 之间的关系,并与 MS 一起打开。
材料和方法
ON、ON 和 MS 患者和健康人群的随机样本被纳入研究。的基因分型VEGFA rs1413711,TIMP-3 rs9621532,和IL-6 rs1800796多态性进行了使用实时聚合酶链反应方法。
结果
VEGFA rs1413711 的T/C 和 C/C 基因型与显性和共显性模型中发生 ON 的几率增加约三倍有关。VEGFA rs1413711处的每个等位基因 C与 ON 发展的几率增加 1.7 倍相关。与对照组相比,ON 与 MS 组中IL-6 rs1800796 等位基因 C 的频率更高:分别为 17.6% 和 7.5% ( p = .040)。在TIMP-3 rs9621532 和 ON 发展之间没有发现统计学上显着的关联。
结论:VEGFA
rs1413711 与 ON 开发相关。