What question did this study set out to answer?

The research aims to explore HLA associations in NMOSD and their differences based on ethnicity and antibody status.

April 19, 2026Neurology Neuroimmunology & Neuroinflammation0 citationsOpen Access

HLA Associations Differ by Ethnicity and Aquaporin-4 Antibody Status in Patients With Neuromyelitis Optica Spectrum Disorders

MNMoritz Niederschweiberer GPGeorgia Panagiotaropoulou MFMarcelo Fernández-ViñaPalo Alto University

Key Points

The research aims to explore HLA associations in NMOSD and their differences based on ethnicity and antibody status.
Analyzed HLA associations in patients with neuromyelitis optica spectrum disorders (NMOSD)
Compared HLA-DRB1 and haplotypes among AQP4-IgG positive and negative groups
Evaluated the impact of ethnicity on these HLA associations
Confirmed the association of HLA-DRB1*03:01 with AQP4-IgG+ NMOSD in White patients
Identified HLA-DRB1*08:04 association in AQP4-IgG+ Black patients
No HLA associations found in White AQP4-IgG- NMOSD patients

Abstract

This study confirms the previously recognized association of HLA-DRB1*03:01 with AQP4-IgG+ NMOSD in White patients and extends this association to the HLA-DRB1*03:01:01∼HLA-DQA1*05:01:01∼HLA-DQB1*02:01:01 haplotype. Furthermore, it identifies an association of HLA-DRB1*08:04 with AQP4-IgG+ NMOSD in Black patients. However, no HLA associations were detected in White AQP4-IgG- patients with NMOSD. The immunogenetic differences between AQP4-IgG+ and AQP4-IgG- NMOSD support pathophysiologic distinctions between these entities.

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