Evidence map›Paper›PMID 41992749›Full record

ArticleBrain and behavior2026

Causal Exposures of Immune Cells in Neuromyelitis Optica Spectrum Disorders: A Mendelian Randomization Study and Flow Cytometry Analysis.

Jingru Ren, Jianchun Wang, Zhenyu Niu, Jing Guo, Nan Zhang, Hongjun Hao, Feng Gao, Ran Liu, Zhaoxia Wang

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In one paragraph

Article in Brain and behavior, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Jingru RenDepartment of Neurology, Peking University First Hospital, Beijing, China.
Jianchun WangDepartment of Neurology, Peking University First Hospital, Beijing, China.
Zhenyu NiuDepartment of Neurology, Peking University First Hospital, Beijing, China.
Jing GuoDepartment of Neurology, Peking University First Hospital, Beijing, China.
Nan ZhangDepartment of Neurology, Peking University First Hospital, Beijing, China.
Hongjun HaoDepartment of Neurology, Peking University First Hospital, Beijing, China.
Feng GaoDepartment of Neurology, Peking University First Hospital, Beijing, China.
Ran LiuDepartment of Neurology, Peking University First Hospital, Beijing, China.
Zhaoxia WangDepartment of Neurology, Peking University First Hospital, Beijing, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNeuromyelitis optica spectrum disorders (NMOSD) are an immune-mediated inflammatory disease of the central nervous system (CNS) primarily characterized by anti-aquaporin-4 immunoglobulin G (AQP4-IgG)-mediated astrocyte injury, neuroinflammation, and demyelination. However, the relationship between the disease and the immune trait from a genetic perspective still requires further confirmation.

methodsThis study used two-sample Mendelian randomization (MR) to assess causal relationship of immune cells with NMOSD. A total of 731 immune phenotyping traits were considered as exposure factors. NMOSD group is defined as outcome factor, which single-nucleotide polymorphisms (SNPs) obtained from the study of Karol Estrada et al. (n = 215 NMOSD cases). The disease group was subcategorized into three groups based on the presence of AQP4-IgG or not. We then enrolled 27 NMOSD patients and 17 healthy controls for peripheral blood flow cytometric analyses to validate part of our findings.

resultsIn this study, we found multiple possible genetic associations between immune cells and NMOSD. Beyond the well-recognized roles of T and B cells, diverse myeloid-lineage cells may also contribute to NMOSD pathophysiology. For AQP4-IgG seropositive patient, myeloid cells, including dendritic cells (DCs) and the surface molecule CD80, granulocytic myeloid-derived suppressor cells (MDSCs), and the molecule CX3CR1 may have a protective role in this group. In AQP4-IgG seronegative patients, molecules like herpesvirus entry mediator (HVEM) exert pathogenic roles in NMOSD. Further flow-cytometric analysis revealed that the proportion of MDSCs in NMOSD patients was lower, consistent with the MR analysis. However, the phenotypic expression of CX3CR1 in our NMOSD cohort yielded results opposite to those of the MR analysis. Additionally, many immune traits were correlated with the clinical phenotypes of NMOSD patients. CONCLUSIO: Adaptive immune cells play significant role in NMOSD patients.Certain innate immune cells (e.g., DCs and MDSCs) and surface molecules (e.g., CX3CR1 and CD80) may correlate with certain clinical phenotypes.

Indexed as

Neuromyelitis OpticaAdultAquaporin 4FemaleFlow CytometryHumansImmunoglobulin GMaleMendelian Randomization AnalysisPolymorphism, Single NucleotideAQP4 protein, humanAquaporin 4Immunoglobulin Gaquaporin‐4 (AQP4)flow cytometry analysisimmune cellsMendelian randomizationneuromyelitis optica spectrum disorders (NMOSD)

Identifiers

PMID41992749
PMCPMC13087529

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