CD226 Gly307Ser association with neuromyelitis optica in Southern Han Chinese.
ABSTRACT Background: Neuromyelitis optica (NMO) and multiple sclerosis (MS) are autoimmune diseases of the central nervous system with complex pathogeneses. NMO was once considered to be a severe variant of MS. There has been more evidence that a non-synonymous exchange (rs763361/Gly307Ser) in the gene for CD226 is linked to several autoimmune diseases including multiple sclerosis (MS). However, no studies have investigated the role of rs763361 in the pathogenesis of NMO. Objectives: The goal of our study is to evaluate the role of CD226 Gly307Ser in neuromyelitis optica (NMO) in Southern Han Chinese. Methods: Eight-nine NMO patients, 93 relapsing-remitting multiple sclerosis (RRMS) patients, and 122 controls (CTLs) were enrolled. The rs763361 alleles of the subjects were determined by sequencing-based typing. Results: The results strongly support that the TT genotypes are associated with NMO but are not significantly correlated with susceptibility for MS. Conclusions: CD226 Gly307Ser may correlate with risk of NMO in Southern Han Chinese.
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ABSTRACT: Objective To investigate the association between aquaporin 4 (AQP4) gene polymorphisms and Chinese patients with neuromyelitis optica (NMO). Methods 122 consecutive anti-AQP4 autoantibodies (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%, padjusted = 0.024, OR = 1.670, 95% CI = 1.071–2.605) and the C/T genotype of SNP rs3763043 (53.85% vs. 42.65%, padjusted = 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.Journal of Neuroimmunology 09/2014; · 2.79 Impact Factor
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ABSTRACT: OBJECTIVES: To identify the association of aquaporin-4 (AQP4) promoter polymorphism with the presence of anti-aquaporin-4 antibody (AQP4-Ab) in Southern Han Chinese patients with idiopathic demyelinating disorders of central nervous system. METHODS: Eighteen neuromyelitis optica (NMO), thirty-eight conventional MS (CMS), thirteen recurrent myelitis (RM), six recurrent optic neuritis (RON) patients and thirty-nine matched controls were enrolled. Polymorphisms of AQP4 promoters 0 and 1 were determined by sequencing-based typing. RESULTS: Fourteen polymorphism loci were observed in AQP4-promoter 0, while the six ones were observed in AQP4-promoter 1. Among them, the frequency of polymorphism at position -1003bp (A-G) of AQP4-promoter 0 in AQP4-Ab-positive patients was significantly higher than that in AQP4-Ab-negative patients and controls (former: 13/18 vs 20/45, P=0.046; latter: 13/18 vs 10/39, P=.001). The frequency of polymorphism at position between -401bp and -400bp (C inserted) of AQP4-promoter 1 in AQP4-Ab-positive and -negative patients was significantly higher than that in controls (former: 5/16 vs 0/28, P=0.008; latter: 8/38 vs 0/28, P=0.027). CONCLUSIONS: Polymorphism at position -1003bp (A-G) of AQP4-promoter 0 is associated with the presence of anti-AQP4 antibody. Genetic variation in AQP4 may account for the susceptibility to AQP4-Ab-positive NMO and NMO spectrum disorders in Southern Han Chinese population.Journal of neuroimmunology 10/2012; · 2.84 Impact Factor