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Article

Identification of genetic risk loci associated with aquaporin 4-positive neuromyelitis optica spectrum disorder: a genome-wide association study.

The Lancet. Neurology - 1 May 2026

Attfield Kathrine E, Armen Angelos P, Kuttikkatte Subita Balaram, Farooq Redwan, Francis Anna G, Dendrou Calliope A, Leite M Isabel, Waters Patrick, Weinshenker Brian G, Karczewski Konrad J, Neale Benjamin M, Jensen Lise Torp, Rossjohn Jamie, Gold Ralf, Korn Thomas, McVean Gil, Palace Jacqueline, Fugger Lars

Abstract excerpt

BACKGROUND: Little is known about the causes of serum aquaporin 4 (AQP4) antibody-positive neuromyelitis optica spectrum disorder (AQP4-positive NMOSD) or how its pathophysiology differs from other demyelinating autoimmune diseases, which limits therapeutic and preventative opportunities despite available diagnostic biomarkers. By performing a pan-ancestry genome-wide association study (GWAS), we aimed to deepen...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42009010
DOI: 10.1016/S1474-4422(26)00084-0

Genes

AQP4
STAT4
TYK2
C4A
CD4

Variants

rs1150753

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Identification of genetic risk loci associated with aquaporin 4-positive neuromyelitis optica spectrum disorder: a genome-wide association study.PMID 42009010Read ↗

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