Department of Dermatology, Affiliated Hospital of Youjiang Medical University for Nationalities, Baise 533000, Guangxi, China.
Department of Laboratory Medicine, Affiliated Hospital of Youjiang Medical University for Nationalities, Baise 533000, Guangxi, China.
Gene. 2014 Mar 15;538(1):94-8. doi: 10.1016/j.gene.2014.01.012. Epub 2014 Jan 13.
Systemic lupus erythematosus (SLE) is one of the common autoimmune diseases, with complex genetic components. Interleukin-21 (IL-21) is the most recently discovered member of the type-I cytokine family, which has a variety of effects on the immune system, including B cell activation, plasma cell differentiation, and immunoglobulin production. Previous studies have identified that IL-21 was associated with different autoimmune and inflammatory diseases, such as rheumatoid arthritis, multiple sclerosis and SLE. Variations in the DNA sequence in the IL-21 gene may lead to altered IL-21 production and/or activity, and thus this can modulate an individual's susceptibility to SLE. To test this hypothesis, we investigated the association of the IL-21 polymorphisms and its serum levels with the risk of SLE in a Chinese population. We analyzed three single nucleotide polymorphisms of IL-21 gene rs907715 C/T, rs2221903 T/C and rs2055979 C/A in 175 patients with SLE and 190 age- and sex-matched controls, using Snapshot SNP genotyping assays and DNA sequencing method. Soluble IL-21 (sIL-21) levels were measured by ELISA. There were significant differences in the genotype and allele frequencies of IL-21 gene rs2055979 C/A polymorphism between the group of patients with SLE and the control group (P<0.05). sIL-21 levels were increased in patients with SLE compared with controls (P<0.01). Moreover, genotypes carrying the IL-21 rs2055979 A variant allele were associated with increased IL-21 levels compared to the homozygous wild-type genotype in patients with SLE. The rs2055979 C/A polymorphism of IL-21 and its sIL-21 levels were associated with SLE in the Chinese population. Our data suggests that IL-21 gene may play a role in the development of SLE.
系统性红斑狼疮 (SLE) 是一种常见的自身免疫性疾病，具有复杂的遗传成分。白细胞介素-21 (IL-21) 是最近发现的 I 型细胞因子家族成员之一，对免疫系统具有多种作用，包括 B 细胞激活、浆细胞分化和免疫球蛋白产生。先前的研究表明，IL-21 与不同的自身免疫性和炎症性疾病有关，如类风湿关节炎、多发性硬化症和 SLE。IL-21 基因中的 DNA 序列变异可能导致 IL-21 产生和/或活性改变，从而调节个体对 SLE 的易感性。为了验证这一假说，我们在中国人群中研究了 IL-21 多态性及其血清水平与 SLE 风险的相关性。我们使用Snapshot SNP 基因分型检测和 DNA 测序方法，分析了 175 例 SLE 患者和 190 例年龄和性别匹配的对照中 IL-21 基因 rs907715 C/T、rs2221903 T/C 和 rs2055979 C/A 的三个单核苷酸多态性。通过 ELISA 测量可溶性白细胞介素-21 (sIL-21) 水平。SLE 组和对照组之间 IL-21 基因 rs2055979 C/A 多态性的基因型和等位基因频率存在显著差异 (P<0.05)。SLE 患者的 sIL-21 水平高于对照组 (P<0.01)。此外，与 SLE 患者的纯合野生型基因型相比，携带 IL-21 rs2055979 变异等位基因的基因型与 sIL-21 水平升高相关。在中国人群中，IL-21 基因 rs2055979 多态性及其 sIL-21 水平与 SLE 相关。我们的数据表明，IL-21 基因可能在 SLE 的发生发展中起作用。
