Human aquaporin 4 gene polymorphisms in Chinese patients with neuromyelitis optica

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. (C) 2014 Elsevier B.V. All rights reserved.