Gedvilaite Greta, Vilkeviciute Alvita, Kriauciuniene Loresa, Asmoniene Virginija, Liutkeviciene Rasa
a Lithuanian University of Health Sciences , Medical Academy , Kaunas , Lithuania.
b Neuroscience Institute , Lithuanian University of Health Sciences, Medical Academy , Kaunas , Lithuania.
Ophthalmic Genet. 2019 Jun;40(3):219-226. doi: 10.1080/13816810.2019.1622022. Epub 2019 Jun 14.
: Optic neuritis (ON) is defined as inflammation of the optic nerve, which is mostly idiopathic. However, it can be associated with various causes (demyelinating lesions, autoimmune disorders, infectious and inflammatory conditions). Inflammatory demyelinating disorder of the optic nerve can be associated with multiple sclerosis. It is thought that and genes play a key role in this autoimmune inflammatory disease. The aim of our study was to determine if the frequency of the and gene polymorphisms have an influence on the development of acute ON. : The study enrolled patients with ON and a random sample of healthy population. The genotyping test of the rs12778366, rs744166, rs833068, rs1800795 polymorphisms was carried out using the RT-PCR method. : Our study determined that the G/A genotype of rs708272 was associated with two-fold-decreased odds of ON development under the codominant (OR = 0.495;95%CI:0.256-0.959) and overdominant (OR = 0.501;95%CI:0.280-0.895) models. Also, each allele C at rs833068 was associated with 1.7-fold increased odds of ON development under the additive model (OR = 1.733;95%CI:1.148-2.615). Furthermore, rs1800795 G/G genotype was associated with increased odds of ON development under the codominant (OR = 2.869;95%CI:1.280-6.434) and recessive (OR = 2.315;95%CI:1.251-4.285) models. : We revealed that the genotypes of rs708272 G/A, rs1800795 G/G, and each allele C at rs833068 were associated with ON. rs708272 G/G genotype was associated with decreased by 62% odds of ON with MS development under the recessive (OR = 0.379;95%CI:0.155-0.929; = .034) model.
视神经炎（ON）被定义为视神经的炎症，其大多为特发性。然而，它可能与多种病因相关（脱髓鞘病变、自身免疫性疾病、感染性和炎症性疾病）。视神经的炎性脱髓鞘疾病可能与多发性硬化症相关。据认为，[具体基因1]和[具体基因2]基因在这种自身免疫性炎症疾病中起关键作用。我们研究的目的是确定[具体基因1]和[具体基因2]基因多态性的频率是否对急性视神经炎的发生有影响。
该研究纳入了视神经炎患者以及健康人群的随机样本。使用RT-PCR方法对rs12778366、rs744166、rs833068、rs1800795多态性进行基因分型检测。
我们的研究确定，在共显性（OR = 0.495；95%CI：0.256 - 0.959）和超显性（OR = 0.501；95%CI：0.280 - 0.895）模型下，rs708272的G/A基因型与视神经炎发生几率降低两倍相关。此外，在加性模型下，rs833068的每个C等位基因与视神经炎发生几率增加1.7倍相关（OR = 1.733；95%CI：1.148 - 2.615）。此外，在共显性（OR = 2.869；95%CI：1.280 - 6.434）和隐性（OR = 2.315；95%CI：1.251 - 4.285）模型下，rs1800795的G/G基因型与视神经炎发生几率增加相关。
我们发现，rs708272的G/A基因型、rs1800795的G/G基因型以及rs833068的每个C等位基因与视神经炎相关。在隐性（OR = 0.379；95%CI：0.155 - 0.929；P = 0.034）模型下，rs708272的G/G基因型与多发性硬化症相关性视神经炎发生几率降低62%相关。
