Dataset Information

The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population.

ABSTRACT: Neuromyelitis optica (NMO) appears to be a severe inflammatory demyelinating disease occurring in the central nervous system. Furthermore, the Fc receptor-like 3 (FCRL3) gene was previously found to be susceptible for a certain inflammatory demyelinating diseases (such as multiple sclerosis). The present study, therefore, was aimed to explore the possible association of FCRL3 gene polymorphisms with susceptibility to NMO in a Chinese Han population. Seven single nucleotide polymorphisms (SNPs) of FCRL3 were, respectively, genotyped in 132 NMO patients and 264 healthy controls via PCR assay. Moreover, the t-test and the chi-square test were used to estimate the association between genetic mutations of FCRL3 and the risk of NMO with Statistical Analysis System (SAS) software (Version 9.0). It was demonstrated that FCRL3_3, 5, 6 and 8, SNPs were remarkably associated with susceptibility to NMO in both allelic [OR?=?1.50 (95% CI: 1.11-2.03, P?=?0.008), OR?=?1.44 (1.07-1.94, P?=?0.015), OR?=?1.45 (1.08-1.95, P?=?0.014), and OR?=?2.01 (1.13-3.60, P?=?0.016)] and homozygous models [OR?=?2.19 (95% CI: 1.19-3.99, P?=?0.010), OR?=?2.09 (1.15-3.80, P?=?0.014), OR?=?2.04 (1.13-3.67, P?=?0.016), and OR?=?5.33 (1.02-27.9, P?=?0.027)]. However, the other 4 SNPs, FCRL3_4, FCRL3_7, FCRL3_9, did not show the significant associations with NMO. Conclusions in the present study could be drawn that 4 SNPs in FCRL3 (FCRL3_3*C, 5*C, 6*A, 8*G) might account for increased risk of NMO in a Chinese-Han population. Nevertheless, further cohort studies are in demand to validate the association in the future.

SUBMITTER: Lan W

PROVIDER: S-EPMC4635738 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature

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The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population.

Lan Wenjing W Fang Shaokuan S Zhang Huimao H Wang Dan Tong Jianmeng DTJ Wu Jiang J

Medicine 20150901 38

Neuromyelitis optica (NMO) appears to be a severe inflammatory demyelinating disease occurring in the central nervous system. Furthermore, the Fc receptor-like 3 (FCRL3) gene was previously found to be susceptible for a certain inflammatory demyelinating diseases (such as multiple sclerosis). The present study, therefore, was aimed to explore the possible association of FCRL3 gene polymorphisms with susceptibility to NMO in a Chinese Han population. Seven single nucleotide polymorphisms (SNPs) o ...[more]

PMID: 26402798

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Project description:BackgroundForkhead box P3 (FOXP3) plays a critical role in the pathogenesis of autoimmune disorders. In the present study, we genotyped three single-nucleotide polymorphisms, namely, rs2232365, rs3761548, and rs3761549, to determine the relationship between FOXP3 polymorphisms and neuromyelitis optica spectrum disorder (NMOSD) susceptibility among the Northern Chinese Han population.Materials and methodsWe genotyped single nucleotide polymorphisms at loci of the FOXP3 gene (rs2232365, rs3761548, and rs3761549136) in 136 NMOSD patients and 224 healthy subjects using the multiplex SNaPshot technique. Allele, genotype, and haplotype frequencies were compared. qPCR was used to analyze the mRNA expression levels of FOXP3 in the peripheral blood mononuclear cells of 63 NMOSD patients and 35 healthy subjects. Non-parametric tests were used to test the FOXP3 mRNA expression across the different groups.ResultsThe minor allele frequency (MAF) of G in rs2232365 was markedly lower in the NMOSD group than in the control group (odds ratio [OR] = 0.57, 95% confidence interval [95% CI]: 0.41-0.79, p = 0.001). Using genetic (codominant, dominant, and recessive) models and performing haplotype analyses, the MAF of G in rs2232365 was shown to be associated with protection against NMOSD in this population. Furthermore, haplotype analysis revealed that the haplotype GCT and the rs2232365, rs3761548, and rs3761549 alleles predicted protection against NMOSD (OR = 0.63, 95% CI = 0.41-0.97, p = 0.038). The proportions of the three genotypes of rs2232365 (p = 0.001) were not significantly different between the moderate-to-severe (Expanded Disability Status Scale (EDSS) ≥ 3 points) and mild (EDSS < 3 points) groups. Evidently, the proportion of patients with the AA genotype (64.3%) among the rs2232365 patients was significantly greater in the moderate-to-severe group than in the mild group (36.4%). However, the proportion of patients with the GG genotype (15.2%) among the rs2232365 patients was significantly greater in the mild group than in the moderate-to-severe group (2.9%). The mRNA expression of FOXP3 was markedly greater in the NMOSD group than in the control group (p = 0.001). Nevertheless, acute non-treatment patients exhibited lower FOXP3 mRNA expression than healthy controls and patients in the remission group (p = 0.004 and 0.007, respectively).ConclusionFOXP3 polymorphisms and haplotypes are related to NMOSD susceptibility among the Han Chinese population. The minor allele G of FOXP3 rs2232365 and the haplotype GCT are associated with protection against NMOSD. The GG genotype may decrease the severity of NMOSD, whereas the AA genotype is related to moderate-to-severe NMOSD. FOXP3 mRNA expression is greater in patients with NMOSD than in healthy controls. However, it is decreased in acute non-treatment patients compared with healthy controls.

Project description:AimThis study aimed to determine the correlation between B-lymphoid tyrosine kinase (BLK) polymorphism, mRNA gene expression of BLK, and NMOSD in a Chinese Han population.BackgroundB-lymphoid tyrosine kinase gene expressed mainly in B cells plays a key role in various autoimmune disorders. However, no studies have investigated the association of BLK polymorphisms with neuromyelitis optica spectrum disorder (NMOSD).MethodsHan Chinese population of 310 subjects were recruited to analyze three single nucleotide polymorphisms (rs13277113, rs4840568, and rs2248932) under allele, genotype, and haplotype frequencies, followed by clinical characteristics stratified analysis. Real-time PCR was used to analyze mRNA expression levels of BLK in the peripheral blood mononuclear cells of 64 subjects.ResultsPatients with NMOSD showed lower frequencies of the minor allele G of rs2248932 than healthy controls (odds ratio (OR) =0.57, 95% confidence intervals (CI) 0.39-0.83, p = 0.003). The association between minor allele G of rs2248932 and reduced NMOSD susceptibility was found by applying genetic models of inheritance (codominant, dominant, and recessive) and haplotypes analysis. Subsequently, by stratification analysis for AQP4-positivity, the minor allele G frequencies of rs2248932 in AQP4-positive subgroup were significantly lower than in the healthy controls (OR =0.46, 95% CI 0.30-0.72, p = 0.001). Notably, the genotype GG of rs2248932 was more frequent in AQP4-negative subgroup (n = 14) than in AQP4-positive subgroup (n = 93) (p = 0.003, OR =0.05, 95% CI =0.01-0.57). BLK mRNA expression levels in the NMOSD patients (n = 36) were lower than in healthy controls (n = 28) (p < 0.05). However, the acute non-treatment (n = 7), who were untreated patients in the acute phase from the NMOSD group, showed BLK mRNA expression levels 1.8-fold higher than healthy controls (n = 8) (p < 0.05).ConclusionThis study evaluated that the minor allele G of rs2248932 in BLK is associated with reduced susceptibility to NMOSD and protected the risk of AQP4-positive. BLK mRNA expression in NMOSD was lower as compared to healthy controls while significantly increased in acute-untreated patients.

Dataset Information

The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population.

Publications

The Fc Receptor-Like 3 Polymorphisms (rs7528684, rs945635, rs3761959 and rs2282284) and The Risk of Neuromyelitis Optica in A Chinese Population.

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