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Genetic evidence supporting the causal link between optic neuritis and rheumatoid arthritis

Luyue Zhang, Shuting Liu, Jincheng Guo, Jiayuan Yao, Heyi Zhang, Yiwen Zhang, Ting Cheng, Shengxiao Zhang
pp.508-514 DOI: 10.62051/8typ8n07 October 11, 2025
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Abstract: Background: Previous studies have observed an association between optic neuritis (ON) and rheumatoid arthritis (RA). However, the causal relationship between these two conditions remains ambiguous. This study aimed to explore the causal effect between ON and RA using Mendelian randomization (MR) analysis. Methods: Summary statistics for RA (14,361 RA cases and 43,923 healthy controls (HCs)) and ON (582 cases and 217,491 HCs) were obtained from an available meta-analysis of published genome-wide association studies (GWAS).Bidirectional MR was performed using inverse-variance weighting, MR-Egger regression, and weighted-median analysis. Additionally, sensitivity tests including the leave-one-out analysis, MR-PRESSO, and Cochran’s Q test were conducted to assess the robustness and validity of the results. Results: The presence of ON may increase the risk of RA by 5.1% genetically (OR = 1.051, 95%CI: 0.003-0.100; p = 0.039). Sensitivity analyses provided no indications of heterogeneity (Cochran’s Q = 3.173, p = 0.787) or pleiotropy (intercept of 0.015, p = 0.533). No strong evidence that RA had a causal effect on ON risk (OR = 0.937, 95%CI: 0.830-1.057; p = 0.292). Sensitivity analyses provided no indications of heterogeneity (Cochran’s Q = 100.438, p = 0.081) or pleiotropy (intercept of 0.028, p = 0.091). Conclusion: This study provides genetic evidence suggesting that ON may contribute to the development of RA. These findings have potential implications for the management of RA.
Keywords: Rheumatoid Arthritis, Optic Neuritis, Genome-Wide Association Study, Causal relationship.
APA Citation: Luyue Zhang, Shuting Liu, Jincheng Guo, Jiayuan Yao, Heyi Zhang, Yiwen Zhang, Ting Cheng, Shengxiao Zhang (2025). Genetic evidence supporting the causal link between optic neuritis and rheumatoid arthritis. Transactions on Materials, Biotechnology and Life Sciences, 8(1), 508-514. https://doi.org/10.62051/8typ8n07

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