Associations between IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, and HTRA1 rs11200638 gene polymorphisms and development of optic neuritis with or without multiple sclerosis.

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 ( = 0.026). The IL1RL1 rs1041973 A/C genotype was associated with increased odds of ON development under the overdominant ( = 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.