Dataset Information

Absence of association of interleukin-18 gene polymorphisms with primary immune thrombocytopenia in a Chinese Han population.

ABSTRACT: Interleukin-18 (IL-18) is an inflammatory cytokine that plays an important role in autoimmune disease by inducing interferon-? secretion. Considering the abnormal serum concentration of IL-18 in primary immune thrombocytopenia (ITP) patients and the regulated effect of IL-18 gene polymorphisms on its production, the aim of this study was to investigate a possible association between the IL-18 promoter polymorphisms (-137 G/C and -607 C/A sites) and genetic susceptibility to ITP in a Chinese Han population. A total of 181 ITP patients and 163 healthy controls were included in this study; IL-18 gene promoter polymorphisms were analyzed by a polymerase chain reaction with sequence-specific primers. No significant differences in genotype (-607: ?(2)=0.307, p=0.858; -137: ?(2)=0.378, p=0.828) and allele frequencies (-607: ?(2)=0.004, p=0.949; -137: ?(2)=0.307, p=0.858) were found between total ITP patients and normal controls. We further analyzed the association of IL-18 polymorphisms with clinical parameters of ITP patients, including first onset age and clinical therapy response to glucocorticoids, and no difference was revealed. In conclusion, IL-18 promoter polymorphisms may not be associated with genetic susceptibility to ITP in a Chinese Han population.

SUBMITTER: Li H

PROVIDER: S-EPMC4117256 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature

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Absence of association of interleukin-18 gene polymorphisms with primary immune thrombocytopenia in a Chinese Han population.

Li Huiyuan H Xuan Min M Xue Feng F Liu Xiaofan X Zhang Donglei D Fu Rongfeng R Yang Yanhui Y Zhang Xian X Yang Renchi R

DNA and cell biology 20140417 8

Interleukin-18 (IL-18) is an inflammatory cytokine that plays an important role in autoimmune disease by inducing interferon-γ secretion. Considering the abnormal serum concentration of IL-18 in primary immune thrombocytopenia (ITP) patients and the regulated effect of IL-18 gene polymorphisms on its production, the aim of this study was to investigate a possible association between the IL-18 promoter polymorphisms (-137 G/C and -607 C/A sites) and genetic susceptibility to ITP in a Chinese Han ...[more]

PMID: 24742099

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Project description:Autoimmune uveitis is characterized by immune disorders of the eyes and the whole body and is often recurrent in young adults, but its pathogenesis is still unclear. IL-35 is an essential regulatory factor in many autoimmune diseases, which is produced by Breg cells and can induce Breg cells to regulate the immune response. The relationship between the expression and gene polymorphism of IL-35 and the immune status of patients with autoimmune uveitis has not been reported. The peripheral blood of the subjects was collected from patients with Behçet's Disease (BD) and those with Vogt-Koyanagi-Harada (VKH) syndrome. The percentage of immune cell subsets including B cells, DC, and T cells, and the expression of IL-35 in serum of these two kinds of disease were analyzed. And then, the associations between seven IL-35 single nucleotide polymorphism (SNP) sites and disease susceptibility, the immune status, the clinical characteristics, and the serum IL-35 levels were analyzed. Our results showed that the percentage of Breg cells was significantly decreased in the blood of patients with VKH syndrome compared to that of healthy controls. The levels of IL-35 in the serum of patients with VKH syndrome or BD patients were not changed significantly, compared to that of healthy controls. Furthermore, the associations between two subunits of IL-35 (IL-12p35 and EBI3) and BD or VKH patients were analyzed. We found that there was an association between the EBI3 rs428253 and the occurrence of BD. There was an association between the IL-12p35 rs2243131 and the low level of Breg cell of VKH patients. In addition, there were associations between the polymorphisms of EBI3 rs4740 and the occurrence of headache and tinnitus of VKH patients, respectively. And the genotype frequency of IL-12p35 rs2243115 was related to the concentration of serum IL-35 in patients with VKH syndrome. Thus, the specific SNP sites change of IL-35 were correlated to the immune disorders in uveitis. And they may also play a guiding role in the occurrence of clinical symptoms in patients with uveitis, especially for VKH syndrome.

Dataset Information

Absence of association of interleukin-18 gene polymorphisms with primary immune thrombocytopenia in a Chinese Han population.

Publications

Absence of association of interleukin-18 gene polymorphisms with primary immune thrombocytopenia in a Chinese Han population.

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