Related Experiment Video
Updated: Apr 26, 2026

Human Serum Anti-aquaporin-4 Immunoglobulin G Detection by Cell-based Assay
Published on: April 5, 2019
Human aquaporin 4 gene polymorphisms in Chinese patients with neuromyelitis optica
Qiu Wei1, Chang Yanyu1, Li Rui1
1Department of Neurology, Third Affiliated Hospital of Sun Yat-sen University, China.
Objective:
To investigate the association between aquaporin 4 (AQP4) gene polymorphisms and Chinese patients with neuromyelitis optica (NMO).
Methods:
122 consecutive anti-AQP4 autoantibody (NMO-IgG) seropositive cases were enrolled for gene sequencing. Furthermore, ten SNPs were selected and genotyped for a case-control association analysis on 208 cases and 204 healthy subjects.
Results:
14 novel SNPs were identified, while there were no nonsynonymous mutations and their frequency was low. The heterozygous genotype at two 3' UTR SNPs was significantly higher in cases than controls: the A/T genotype of SNP rs1058424 (54.81% vs. 42.65%, p(adjusted)=0.024, OR=1.670, 95% CI=1.071-2.605) and the C/T genotype of SNP rs3763043 (53.85% vs. 42.65%, p(adjusted)=0.028, OR=1.638, 95% CI=1.054-2.545). Moreover, the 3' UTR haplotype ATATGGAT may be protective for NMO (7.67% vs. 12.18%, p=0.042).
Conclusions:
Polymorphisms in the coding region of AQP4 are unlikely to confer NMO susceptibility. However, the 3' UTR of this gene presents several polymorphic sites that may affect NMO risk in the Chinese.
More Related Videos
09:29Induction of Paralysis and Visual System Injury in Mice by T Cells Specific for Neuromyelitis Optica Autoantigen Aquaporin-4
Published on: August 21, 2017
10:19High-throughput Flow Cytometry Cell-based Assay to Detect Antibodies to N-Methyl-D-aspartate Receptor or Dopamine-2 Receptor in Human Serum
Published on: November 23, 2013
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Aquaporins
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters