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BRIEF RESEARCH REPORT article

Front. Genet.
Sec. Epigenomics and Epigenetics
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1423584

Brief Research Report: WGCNA-Driven Identification of Histone Modification Genes as Potential Biomarkers in AQP4-Associated Optic Neuritis

Provisionally accepted
Yuan Cao Yuan Cao Wen Yao Wen Yao Fang Chen Fang Chen *
  • Department of Ophthalmology, Northern Jiangsu People's Hospital, Yangzhou University, Yangzhou, China

The final, formatted version of the article will be published soon.

    Neuromyelitis Optica spectrum disorder (NMOSD) is an autoimmune disease characterized by anti-aquaporin-4 (AQP4) auto-antibodies. The discovery of antibodies AQP4 and myelin oligodendrocyte glycoprotein (MOG) has expanded our understanding of the pathogenesis of neuromyelitis optica. However, the molecular mechanisms underlying the disease, particularly AQP4-associated optic neuritis (AQP4-ON), remain to be fully elucidated.In this study, we utilized Weighted Gene Co -expression Network Analysis (WGCNA) to investigate the transcriptomic profiles of peripheral blood samples from patients with AQP4-ON and MOG-positive optic neuritis (MOG-ON), compared to healthy controls.Results: WGCNA revealed a brown module (ME brown) strongly associated with AQP4-ON, which correlated positively with post-onset visual acuity decline. A total of 132 critical genes were identified, mainly involved in histone modification and microtubule dynamics.Notably, genes HDAC4, HDAC7, KDM6A, and KDM5C demonstrated high AUC values in ROC analysis, indicating their potential as biomarkers for AQP4 -ON. Conclusion: Our findings provide novel insights into the molecular signature of AQP4 -ON and highlight the potential of systems biology approaches in identifying biomarkers for NMOSD. The identified histone modification genes warrant further investigation for their role in disease pathogenesis and as therapeutic targets.

    Keywords: neuromyelitis optica spectrum disorder (NMOsd), Aquaporin -4 (AQP4), weighted gene co-expression network analysis (WGCNA), biomarker, histone modification

    Received: 26 Apr 2024; Accepted: 12 Aug 2024.

    Copyright: © 2024 Cao, Yao and Chen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Fang Chen, Department of Ophthalmology, Northern Jiangsu People's Hospital, Yangzhou University, Yangzhou, China

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