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- W2803456026 abstract "Abstract Neuromyelitis optica (NMO) is a rare autoimmune disease that affects the optic nerve and spinal cord. Most NMO patients ( > 70%) are seropositive for circulating autoantibodies against aquaporin 4 (NMO-IgG+). Here, we meta-analyze whole-genome sequences from 86 NMO cases and 460 controls with genome-wide SNP array from 129 NMO cases and 784 controls to test for association with SNPs and copy number variation (total N = 215 NMO cases, 1244 controls). We identify two independent signals in the major histocompatibility complex (MHC) region associated with NMO-IgG+, one of which may be explained by structural variation in the complement component 4 genes. Mendelian Randomization analysis reveals a significant causal effect of known systemic lupus erythematosus (SLE), but not multiple sclerosis (MS), risk variants in NMO-IgG+. Our results suggest that genetic variants in the MHC region contribute to the etiology of NMO-IgG+ and that NMO-IgG+ is genetically more similar to SLE than MS." @default.
- W2803456026 created "2018-06-01" @default.
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- W2803456026 date "2018-05-16" @default.
- W2803456026 modified "2023-09-28" @default.
- W2803456026 title "A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica" @default.
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- W2803456026 doi "https://doi.org/10.1038/s41467-018-04332-3" @default.
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