The causal relationship between neuromyelitis optica spectrum disorder and other autoimmune diseases

Abstract

ObjectivesThe coexistence of neuromyelitis optica spectrum disorder (NMOSD) with other autoimmune diseases has been well recognized. However, the causal association between these two conditions has not been fully studied. The etiology and therapies of NMOSD coexisting with autoimmune diseases also need to be elucidated.MethodsWe performed two-sample Mendelian randomization (MR) analysis to examine the causality. Genome-wide association (GWAS) summary data from NMOSD, autoimmune thyroid disease (AITD), systemic lupus erythematosus (SLE), and Sjogren’s syndrome (SS) were used to identify genetic instruments. Causal single-nucleotide polymorphisms (SNPs) were annotated and searched for cis-expression quantitative trait loci (cis-eQTL) data. Pathway enrichment analysis was performed to identify the mechanism of NMOSD coexisting with AITD, SLE, and SS. Potential therapeutic chemicals were searched using the Comparative Toxicogenomics Database.ResultsThe MR analysis found that AITD, SLE, and SS were causally associated with NMOSD susceptibility, but not vice versa. Gene Ontology (GO) enrichment analysis revealed that MHC class I-related biological processes and the interferon-gamma-mediated signaling pathway may be involved in the pathogenesis of NMOSD coexisting with AITD, SLE, and SS. A total of 30 chemicals were found which could inhibit the biological function of cis-eQTL genes.ConclusionsOur findings could help better understand the etiology of NMOSD and provide potential therapeutic targets for patients with coexisting conditions.

Optic Neuritis in a Pediatric Patient with Kikuchi–Fujimoto Disease: A Case Report and Review of the Literature

“… 2–4 The basis for the potential association between KFD and optic neuritis lies in the similarity of their cytokine pathways, such as elevated levels of IFN-γ and IL-6. 9 , 10 Meanwhile, the elevation in cytokine levels might also be associated with the symptom of fever during the course of our case. However, the pathogenesis of the optic neuritis and the KFD still needs further investigation.…”

Unraveling the Complexity of Area Postrema Lesions: Insights from Neuromyelitis Optica Spectrum Disorder and Beyond

“…This distinction underscores the necessity of considering rare tumor disorders in the differential diagnosis of area postrema lesions. Furthermore, NMOSD frequently coexists with other autoimmune disorders, as illustrated in our second case, including Sjögren's syndrome, and may be associated with conditions such as rheumatoid arthritis, systemic lupus erythematosus, antiphospholipid syndrome, and autoimmune thyroid disease (AITD), affecting multiple body systems beyond the neurological sphere [13] .…”

Neuromyelitis optica spectrum disorder co‐existing with antiphospholipid syndrome: A case report

“…The development of autoantibodies as a result of complement pathways, activation of interleukins, particularly IL‐6, and molecular mimicry of autoreactive B cells represent the hallmarks of the co‐occurrence of disease 2,27,28 . NMOSD occurs as a result of these autoantibodies invading and destroying the nervous system's astrocytes 23,29 . In this instance, an African female in her early 40s qualified criteria for NMOSD due to a history of progressive loss of vision, transverse myelitis, and positive autoantibody against AQP‐4.…”

“…2,27,28 NMOSD occurs as a result of these autoantibodies invading and destroying the nervous system's astrocytes. 23,29 In this instance, an African female in her early 40s qualified criteria for NMOSD due to a history of progressive loss of vision, transverse myelitis, and positive autoantibody against AQP-4. The co-existence with the antiphospholipid syndrome, in this case, was supported by a history of recurrent pregnancy loss and antiphospholipid antibody seropositivity.…”