Stonys Valdas, Lindžiūtė Miglė, Vilkevičiūtė Alvita, Gedvilaitė Greta, Kriaučiūnienė Loresa, Banevičius Mantas, Žemaitienė Reda, Liutkevičienė Rasa
Faculty of Medicine, Medical Academy, Lithuanian University of Health Sciences , Kaunas, Lithuania.
Neuroscience Institute, Medical Academy, Lithuanian University of Health Sciences , Kaunas, Lithuania.
Ophthalmic Genet. 2020 Aug;41(4):325-330. doi: 10.1080/13816810.2020.1768555. Epub 2020 May 24.
Optic neuritis (ON) and multiple sclerosis (MS) are complex diseases with multifactorial pathogenesis. The role of genetic factors in the development of these diseases is hypothesized, and specific biochemical components involved in the pathogenesis of ON and MS are yet to be determined. The aim of our study was to determine the associations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 gene polymorphisms and development of ON with or without MS.
The study subjects included 80 ON patients and 146 healthy controls (HCs). Genotyping of IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 was performed using real-time polymerase chain reaction.
A/C genotype of IL1RL1 rs1041973 was more frequent in ON patients than in HC subjects ( = 0.026). The IL1RL1 rs1041973 A/C genotype was associated with increased odds of ON development under the overdominant ( = 0.041) model.
Our study showed that IL1RAP rs4624606, IL-6 rs1800795, and HTRA1 rs11200638 are not associated with an increased risk of developing ON. However, the IL1RL1 rs1041973 A/C genotype might be associated with an increased risk of developing ON.
视神经炎（ON）和多发性硬化症（MS）是具有多因素发病机制的复杂疾病。推测遗传因素在这些疾病发展中起作用，而参与ON和MS发病机制的特定生化成分尚未确定。我们研究的目的是确定白细胞介素1受体辅助蛋白（IL1RAP）基因rs4624606、白细胞介素1受体样1（IL1RL1）基因rs1041973、白细胞介素6（IL-6）基因rs1800795和HtrA丝氨酸肽酶1（HTRA1）基因rs11200638多态性与伴或不伴MS的ON发生之间的关联。
研究对象包括80例ON患者和146名健康对照（HC）。采用实时聚合酶链反应对IL1RAP rs4624606、IL1RL1 rs1041973、IL-6 rs1800795和HTRA1 rs11200638进行基因分型。
ON患者中IL1RL1 rs1041973的A/C基因型比HC受试者更常见（P = 0.026）。在超显性（P = 0.041）模型下，IL1RL1 rs1041973 A/C基因型与ON发生几率增加相关。
我们的研究表明，IL1RAP rs4624606、IL-6 rs1800795和HTRA1 rs11200638与ON发生风险增加无关。然而，IL1RL1 rs1041973 A/C基因型可能与ON发生风险增加相关。
