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Article

A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.

Nature communications - 16 May 2018

Estrada Karol, Whelan Christopher W, Zhao Fengmei, Bronson Paola, Handsaker Robert E, Sun Chao, Carulli John P, Harris Tim, Ransohoff Richard M, McCarroll Steven A, Day-Williams Aaron G, Greenberg Benjamin M, MacArthur Daniel G

Abstract excerpt

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...

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Source

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Identifiers

PMID: 29769526
DOI: 10.1038/s41467-018-04332-3
PMCID: PMC5955905

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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