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Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder

21 Feb 2025

Abstract excerpt

Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disease characterized by optic neuritis and transverse myelitis, with an unclear genetic background. A genome-wide meta-analysis of NMOSD in Japanese individuals (240 patients and 50,578 controls) identified significant associations with the major histocompatibility complex region and a common variant close to CCR6 (rs12193698; p = 1.8 × 10 −8 ,...

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PMID: 39986280
DOI: 10.1016/j.xgen.2025.100776

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