Whole‐exome sequencing reveals the major genetic factors contributing to neuromyelitis optica spectrum disorder in Chinese patients with aquaporin 4‐IgG seropositivity

@article{Zhong2021WholeexomeSR,
  title={Whole‐exome sequencing reveals the major genetic factors contributing to neuromyelitis optica spectrum disorder in Chinese patients with aquaporin 4‐IgG seropositivity},
  author={Xiaonan Zhong and Chen Chen and Xiaobo Sun and Jingqi Wang and Rui Li and Yanyu Chang and Ping Fan and Yuge Wang and Yunting Wu and Lisheng Peng and Zhengqi Lu and Wei Qiu},
  journal={European Journal of Neurology},
  year={2021},
  volume={28},
  url={https://api.semanticscholar.org/CorpusID:231863345}
}
The aim of the present study was to identify the major genetic factors contributing to NMOSD in Chinese patients with aquaporin 4 (AQP4)‐IgG seropositivity.
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14 Citations

A Comprehensive Review on the Role of Genetic Factors in Neuromyelitis Optica Spectrum Disorder

In the current manuscript, available information about the role of genetic factors in NMO is reviewed and some susceptibility loci for NMO are shown.

Neuromyelitis Optica Spectrum Disorder: From Basic Research to Clinical Perspectives

This review aims to provide an update on recent studies regarding issues related toNMOSD, including the pathophysiology of the disease, the potential use of serum and cerebrospinal fluid cytokines as disease biomarkers, the clinical utilization of ocular coherence tomography, and the comparison of different animal models of NMOSD.

Clinical and genetic analysis of familial neuromyelitis optica spectrum disorder in Chinese: associated with ubiquitin-specific peptidase USP18 gene variants

Most clinical characteristics of familialNMOSD were indistinguishable from sporadic NMOSD except for the worst episodes severity, and USP18 with impaired intronic regulatory function contributed to the pathogenesis of NMOSd.

A comprehensive review of the advances in neuromyelitis optica spectrum disorder.

Research progress on pathogenesis and clinical treatment of neuromyelitis optica spectrum disorders (NMOSDs)

Family planning in neuromyelitis optica spectrum disorder.

Origins and immunopathogenesis of autoimmune central nervous system disorders

Key pathogenic mechanisms underlying the development of CNS autoimmunity are reviewed, focusing on the role of autoantibodies that target neuronal and/or glial cell-surface antigens, and novel therapeutic approaches are considered.

The association of HLA-DQB1*04 and DQB1*03 with neuromyelitis optica spectrum disorders: A case-control study considering genetic ancestry.

HLA-DQB1*04 allele may increase susceptibility to NMOSD, while DQB1*03 allele could exert a protective effect in the authors' population, while considering genetic ancestry.

Newly diagnosed neuromyelitis optica spectrum disorders following vaccination: Case report and systematic review.

Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology

The common manifestations in the brain and the eye are discussed, and collated animal study findings are collated to discuss plausible gene editing strategies for future CVI correction.

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It is suggested that HLA-DRB1*1602 and DPB11*0501 alleles and H pylori and Chlamydia pneumonia infection are risk factors only for anti-AQP4 antibody positive NMO/NMOSD but not forAnti-A QP4 antibodies negative N MO/NM OSD.

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The findings suggest that the emergence of anti-AQP4 antibody is reinforced by the presence of the HLA-DPB1*0501 allele in Japanese.