ArticleAnnals of clinical and translational neurology2020
Genetic factors for susceptibility to and manifestations of neuromyelitis optica.
Article in Annals of clinical and translational neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder.Cell genomics · 2025Pooled it
- Demyelinating disorders in women: epidemiology, immunology, and clinical implications across MS, NMOSD, and MOGAD.Journal of neurology · 2026Review
- HLA Association With AQP4-IgG-Positive Neuromyelitis Optica Spectrum Disorder in the Korean Population.Neurology(R) neuroimmunology & neuroinflammation · 2025Article
- Environmental risk factors of neuromyelitis optica spectrum disorder: a systematic review.Therapeutic advances in neurological disorders · 2025Review
- Advances in biomarkers for optic neuritis and neuromyelitis optica spectrum disorders: a multi-omics perspective.Frontiers in neurology · 2025Review
- Review
- Methyl-CpG-Binding Protein 2 Emerges as a Central Player in Multiple Sclerosis and Neuromyelitis Optica Spectrum Disorders.Cellular and molecular neurobiology · 2023Review
- Neuromyelitis Optica: Pathogenesis Overlap with Other Autoimmune Diseases.Current allergy and asthma reports · 2023Review
- A national case-control study investigating demographic and environmental factors associated with NMOSD.Multiple sclerosis (Houndmills, Basingstoke, England) · 2023Article
- Origins and immunopathogenesis of autoimmune central nervous system disorders.Nature reviews. Neurology · 2023Review
- Epidemiology of myelin oligodendrocyte glycoprotein antibody-associated disease: a review of prevalence and incidence worldwide.Frontiers in neurology · 2023Review
- What Kept Back on the Mirror of COVID-19-Related Acute Transverse Myelitis? A Genetic Background!Iranian journal of child neurology · 2023Article
- Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology.International journal of molecular sciences · 2022Review
- Neuromyelitis Optica Spectrum Disorder: From Basic Research to Clinical Perspectives.International journal of molecular sciences · 2022Review
- High cell surface expression and peptide binding affinity of HLA-DQA1*05:03, a susceptible allele of neuromyelitis optica spectrum disorders (NMOSD).Scientific reports · 2022Article
- Pain Symptoms in Optic Neuritis.Frontiers in pain research (Lausanne, Switzerland) · 2022Review
- Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.Frontiers in immunology · 2022Article
- Th17-Related Cytokines as Potential Discriminatory Markers between Neuromyelitis Optica (Devic's Disease) and Multiple Sclerosis-A Review.International journal of molecular sciences · 2021Review
- Cells to the Rescue: Emerging Cell-Based Treatment Approaches for NMOSD and MOGAD.International journal of molecular sciences · 2021Review
- A Comprehensive Review on the Role of Genetic Factors in Neuromyelitis Optica Spectrum Disorder.Frontiers in immunology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo identify genetic factors associated with susceptibility to and clinical features of neuromyelitis optica spectrum disorders (NMOSD).
methodsGenome-wide single nucleotide polymorphism (SNP) genotyping was conducted in 211 Japanese patients with NMOSD fulfilling the 2006 criteria with or without anti-aquaporin-4 (AQP4) antibody and 1,919 Japanese healthy controls (HCs). HLA-DRB1 and HLA-DPB1 alleles were genotyped in 184 NMOSD cases and 317 HCs. Multiple sclerosis (MS) risk alleles outside the major histocompatibility complex (MHC) region were tested in NMOSD and MS genetic burden (MSGB) scores were compared between HCs and NMOSD.
resultsA SNP (rs1964995) in the MHC region was associated with NMOSD susceptibility (odds ratio (OR) = 2.33, P = 4.07 × 10
interpretationSpecific HLA-DRB1 alleles confer NMOSD susceptibility and KCNMA1 is associated with disability and transverse myelitis in NMOSD.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.