ArticleNature communications2018
A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
81 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder.Cell genomics · 2025Pooled it
- Pooled it
- Neuromyelitis optica is an HLA associated disease different from Multiple Sclerosis: a systematic review with meta-analysis.Scientific reports · 2021Pooled it
- Early complement genes are associated with visual system degeneration in multiple sclerosis.Brain : a journal of neurology · 2019Pooled it
- The cascade to pathogenicity in autoantibody-mediated CNS diseases.Brain : a journal of neurology · 2026Review
- B cell mechanisms underlie IgG glycan alterations in obesity.Glycobiology · 2026Article
- Roles of cerebrospinal fluid metabolites in neuromyelitis optica spectrum disorder: Insights from Mendelian randomization.Medicine · 2026Article
- Narcolepsy is (not) an autoimmune disease.Nature reviews. Neurology · 2026Review
- Prognostic Biomarker Signature of Relapse in Neuromyelitis Optica Spectrum Disorders in the CIRCLES Observational Study.Neurology(R) neuroimmunology & neuroinflammation · 2026Observational
- Increased VH4+JH6+ antibody heavy chain use in plasmablasts from asymptomatic multiple sclerosis patients.Genes and immunity · 2026Article
- HLA Associations Differ by Ethnicity and Aquaporin-4 Antibody Status in Patients With Neuromyelitis Optica Spectrum Disorders.Neurology(R) neuroimmunology & neuroinflammation · 2026Article
- Article
- Causal Exposures of Immune Cells in Neuromyelitis Optica Spectrum Disorders: A Mendelian Randomization Study and Flow Cytometry Analysis.Brain and behavior · 2026Article
- Article
- Sjögren Syndrome Candidate Autoantigen AQP5 Triggers AQP4 CNS Autoimmunity Through Self-Antigen Mimicry.Neurology(R) neuroimmunology & neuroinflammation · 2026Article
- A blood-based co-expression signature of LncRNAs and transcription factors in neuromyelitis optica with diagnostic and mechanistic implications.Scientific reports · 2025Article
- Acetylcarnitine in cerebrospinal fluid and blood as a protective factor for neuromyelitis optica spectrum disorders: a mendelian randomization study.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- AQP4-ab-Positive Neuromyelitis Optica Spectrum Disorder Increases the Risk of Hydrocephalus: A Bidirectional Mendelian Randomization Study.Brain and behavior · 2025Article
- Copy number variation at the complement C4 locus is associated with risk for multiple sclerosis.Multiple sclerosis (Houndmills, Basingstoke, England) · 2025Article
- Identification of novel therapeutic targets for cognitive performance and associations with brain health.Translational psychiatry · 2025Article
21 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
Neuromyelitis optica (NMO) is a rare autoimmune disease that affects the optic nerve and spinal cord. Most NMO patients ( > 70%) are seropositive for circulating autoantibodies against aquaporin 4 (NMO-IgG+). Here, we meta-analyze whole-genome sequences from 86 NMO cases and 460 controls with genome-wide SNP array from 129 NMO cases and 784 controls to test for association with SNPs and copy number variation (total N = 215 NMO cases, 1244 controls). We identify two independent signals in the major histocompatibility complex (MHC) region associated with NMO-IgG+, one of which may be explained by structural variation in the complement component 4 genes. Mendelian Randomization analysis reveals a significant causal effect of known systemic lupus erythematosus (SLE), but not multiple sclerosis (MS), risk variants in NMO-IgG+. Our results suggest that genetic variants in the MHC region contribute to the etiology of NMO-IgG+ and that NMO-IgG+ is genetically more similar to SLE than MS.
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Registered trials
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