Background

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.

Materials and Methods

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.

Results

A/C genotype of IL1RL1 rs1041973 was more frequent in ON patients than in HC subjects (p = 0.026). The IL1RL1 rs1041973 A/C genotype was associated with increased odds of ON development under the overdominant (p = 0.041) model.

Conclusions

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.

中文翻译：

---

IL1RAP rs4624606，IL1RL1 rs1041973，IL-6 rs1800795和HTRA1 rs11200638基因多态性与视神经炎伴或不伴多发性硬化症的发展之间存在关联。

背景

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。假设遗传因素在这些疾病的发展中的作用，尚未确定参与ON和MS发病机理的特定生化成分。我们研究的目的是确定IL1RAP rs4624606，IL1RL1 rs1041973，IL-6 rs1800795和HTRA1 rs11200638基因多态性与有无MS的ON发生之间的关联。

材料和方法

研究对象包括80位ON患者和146位健康对照（HCs）。使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。

结果

与HC受试者相比，ON患者中IL1RL1 rs1041973的A / C基因型更为频繁（p = 0.026）。IL1RL1 rs1041973 A / C基因型与优势模型（p = 0.041）下ON发生几率增加相关。

结论

我们的研究表明，IL1RAP rs4624606，IL-6 rs1800795和HTRA1 rs11200638与发生ON的风险增加无关。但是，IL1RL1 rs1041973 A / C基因型可能与发生ON的风险增加有关。