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The association between interleukin-1 polymorphisms and their protein expression in Chinese Han patients with breast cancer.

ABSTRACT: BACKGROUND:Breast cancer (BC) is the most common cancer in women and the second leading cause of cancer-related deaths among women worldwide. Single nucleotide polymorphisms (SNPs) in cytokine genes have been shown to alter their expressions or functions in patients with BC. In recent years, the molecular structure and function of IL-1 have been studied. Its genetic polymorphism could affect the transcription and expression of the IL-1 gene. Moreover, it is closely related to several diseases. This fact and plethora of gene polymorphism data prompted us to investigate the relationship between IL-1 polymorphisms and IL-1 protein expression in Chinese Han BC patients. METHOD:In total, 298 patients with BC and 287 healthy control women were studied. The genetic polymorphisms for IL-1 were analyzed by the MassARRAY sequencing method. Tumor markers and IL-1? levels were measured by electrochemiluminescence and ELISA, respectively. All gene selection GRCh38 version. RESULTS:The rs1143623 (NC_000002.12:g.112838252C>G) (GC), rs16944 (NC_000002.12:g.112837290A>G)(AG), and rs10490571 (NC_000002.12:g.102100877C>T) (CC) SNPs were found to be significantly lower in the BC group than in the controls. The variant G/C genotype of rs1143623 was associated with a significantly increased risk for BC (OR = 2.34, p < 0.05). The alleles for rs16944 (A/G; OR = 3.15, p < 0.05) and rs10490571 (T/C; OR = 2.48, p < 0.05) were also significantly associated with BC. Moreover, the genotypes of rs1143623, rs16944, and rs10490571 were significantly correlated with serum IL-1? levels and other tumor markers. CONCLUSION:Our data reveal the association between genetic polymorphisms of IL-1 and BC susceptibility in the Chinese Han population and indicates that IL-1 polymorphisms are closely associated with tumor markers and IL-1? protein expression in BC patients.

SUBMITTER: Wang J

PROVIDER: S-EPMC6687616 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature

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The association between interleukin-1 polymorphisms and their protein expression in Chinese Han patients with breast cancer.

Wang Juan J Shi Yonggang Y Wang Gaochao G Dong Shiliang S Yang Daoke D Zuo Xiaoxiao X

Molecular genetics & genomic medicine 20190711 8

<h4>Background</h4>Breast cancer (BC) is the most common cancer in women and the second leading cause of cancer-related deaths among women worldwide. Single nucleotide polymorphisms (SNPs) in cytokine genes have been shown to alter their expressions or functions in patients with BC. In recent years, the molecular structure and function of IL-1 have been studied. Its genetic polymorphism could affect the transcription and expression of the IL-1 gene. Moreover, it is closely related to several dis ...[more]

PMID: 31297985

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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

The association between interleukin-1 polymorphisms and their protein expression in Chinese Han patients with breast cancer.

Publications

The association between interleukin-1 polymorphisms and their protein expression in Chinese Han patients with breast cancer.

Similar Datasets

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