ArticleMolecular neurobiology2025
Effect of L-Carnitine Level on the Risk of Neuromyelitis Optica Spectrum Disorders: A Two-Sample Mendelian Randomization Study.
Article in Molecular neurobiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Previous research has often focused on studying the CNS damage in neuromyelitis optica spectrum disorders (NMOSD), while the role of the peripheral blood in the development of NMOSD is also of significant importance. The relationship between metabolites in blood and cerebrospinal fluid (CSF) with neuroimmune is receiving increasing attention. L-carnitine, whose astrocytic accumulation is associated with neuroinflammation and demyelination, may participate in the pathogenesis of NMOSD. However, whether circulating L-carnitine level has a causal effect on NMOSD risk needs elucidation. With large data sets now available, we used two-sample Mendelian randomization (MR) to determine whether circulating L-carnitine level is causally associated with the risk of NMOSD. Genetic variants associated with circulating L-carnitine levels were derived from a genome-wide association study (GWAS) of 7797 individuals from TwinsUK and KORA F4 cohorts. NMOSD summary statistics, including 215 cases and 1244 controls, were obtained from a separate GWAS. Subgroup analyses included aquaporin-4 (AQP4)-IgG-seropositive NMOSD (132 cases) and AQP4-IgG-seronegative NMOSD (83 cases). We used two-sample MR to explore associations between circulating L-carnitine levels and NMOSD risk, as well as its seropositive and seronegative subtypes. 16 SNPs (single nucleotide polymorphisms) were significantly associated with circulating L-carnitine level (P < 5 × 10
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