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There is a causal association between autoimmune thyroid disease, systemic lupus erythematosus, Sjogren’s syndrome, and an increased risk of neuromyelitis optica spectrum disorder (NMOSD). Certain biological processes and signaling pathways may be involved in developing NMOSD in the presence of these autoimmune diseases.

NMOSD is a disease that affects the central nervous system and can result in blindness and paralysis. It has been observed that NMOSD may coexist with other autoimmune diseases, such as systemic lupus erythematosus (SLE), Sjogren’s syndrome (SS), and autoimmune thyroid disease (AITD). A study published in Frontiers in Immunology confirmed these findings.

Genetic Analysis to Investigate the Link Between NMOSD and Autoimmune Diseases

Researchers conducted a study using Mendelian randomization analysis to investigate the causal relationship between NMOSD and other autoimmune diseases (ADs). They analyzed genetic data from genome-wide association studies and annotated single-nucleotide polymorphisms (SNPs) to search for cis-expression quantitative trait loci (cis-eQTL) data. The study also performed pathway enrichment analysis to identify the mechanisms through which NMOSD co-occurs with these autoimmune diseases and searched for potential therapeutic chemicals using the Comparative Toxicogenomics Database.

Understanding the Relationship Between NMOSD and Other Autoimmune Diseases

The findings revealed that AITD, SLE, and SS were causally associated with an increased risk of NMOSD, but not vice versa. The results were consistent across various analysis methods, indicating a strong and stable causality in the risk of developing NMOSD. Heterogeneity and pleiotropy were not found.

Causal SNPs for NMOSD and Autoimmune Diseases Higher in East Asia

Interestingly, the researchers found that there were significant differences in the frequencies of causal SNPs between East Asian and Caucasian populations. This may explain why the incidence of NMOSD is higher in East Asia. However, minimal differences in the frequencies of causal SNPs were noticed between genders.

Genetic Analysis Links NMOSD With Antigen Processing, Interferon, and the Complement System

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The study found that the coexistence of NMOSD with other ADs may be linked to the antigen processing, interferon, and complement system. The genes related to MHC-I, MHC-II, and the complement system were associated with the pathology of NMOSD. The study also found that the upregulation of MHC class I-related biological processes, type I interferon signaling pathway, and complement activation occurred when NMOSD was followed by the presence of AITD or SLE. On the other hand, MHC class II-related biological processes and the interferon-gamma-mediated signaling pathway were prominent in NMOSD co-occurring with SS.

Chemicals Found to Inhibit Biological Function in NMOSD Co-Occurring With Other ADs

Chemicals that inhibit the biological function of cis-eQTL genes were identified, with 30 chemicals found to have this effect. These chemicals include proteasome inhibitors, anticarcinogenic agents, traditional immunosuppressive agents, antiviral agents, Janus kinase inhibitors, natural compounds, anticoagulants, beta-adrenergic receptor antagonists, enzyme inhibitors, histone deacetylase inhibitors, and protein kinase c activators. The study provides a detailed list of these chemicals’ clinical usage and information.


Wang, X., Shi, Z., Zhao, Z., Chen, H., Lang, Y., Kong, L., Lin, X., Du, Q., Wang, J., & Zhou, H. (2022). The causal relationship between neuromyelitis optica spectrum disorder and other autoimmune diseases. Front Immunol, 13, 959469. https://doi.org/10.3389/fimmu.2022.959469