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Egyptian Journal of Medical Human Genetics [The]. 2017; 18 (2): 129-136
in English | IMEMR | ID: emr-188474

ABSTRACT

Background: Systemic lupus erythematosus [SLE] is a common autoimmune disorder which commonly results from the combined effects of a large number of genes. Variations in the DNA sequence in the Interleukin-21 [IL-21] gene may lead to altered IL-21 production and/or activity which can affect an individual's susceptibility to SLE. IL-21 is a novel class I cytokine produced by activated CD4+ T cells, natural killer T cells and T helper [Th] cells. There is increasing evidence that IL-21 contributes to the pathogenesis of SLE due to its biological activity


Aim of the study: To investigate the association between single nucleotide polymorphism [SNP] of IL-21 rs2221903 gene and serum IL-21 levels with SLE and to detect the possible association between IL-21 serum levels and the pathogenesis of the disease


Subjects and methods: This study was conducted on 30 SLE patients and 20 age and sex matched healthy controls. Serum IL-21 levels were measured using enzyme-linked immunosorbent assay [ELISA] technique and SNP of IL-21 rs2221903 gene was detected by genotyping assay, using real time polymerase chain reaction[RT-PCR]


Results: Serum 11-21 levels were significantly higher in patients compared with controls [p < 0.001]


Patients with high activity index of SLE had significantly higher levels of serum IL-21 [p value < 0.001]


A statistically significant association was found between the T allele of SNP rs2221903 and SLE, whereas; no association between SNP of IL-21 rs2221903 genotypes and SLE or serum IL-21 levels could be detected


Conclusion: IL-21 plays an important role in the immune-pathogenesis of SLE and could be used as a possible target for novel immunotherapy. The T allele of SNP rs2221903 suggests that the IL-21 gene may contribute to an inherited predisposition to SLE


Subject(s)
Humans , Female , Male , Adult , Polymorphism, Single Nucleotide , Interleukins , Genetic Association Studies , Real-Time Polymerase Chain Reaction , Genotyping Techniques , Enzyme-Linked Immunosorbent Assay
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