Case-Controlhigh evidence

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

The Lancet. Neurology·May 1, 2026·PMID 42009010

Why it matters

It clarifies the genetic basis of AQP4-positive NMOSD, distinguishing it from multiple sclerosis and linking it to systemic autoimmunity. This may guide future therapeutic targeting, particularly of the TYK2-STAT4 pathway, and improve understanding of disease mechanisms.

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