Interleukin-38 (IL-38), an inflammatory cytokine discovered in recent years, has been implicated in the pathogenesis of systemic lupus erythematosus (SLE). IL-38 is encoded by the IL1F10 (interleukin 1 family member 10) gene. Genetic variants of this gene have been associated with susceptibility to a number of autoimmune and inflammatory diseases, while their association with SLE risk has not been explored. In this case–control study, two novel variants of the 5 prime untranslated region (5′UTR) of the IL1F10 gene, rs3811050 C/T and rs3811051 T/G, were investigated in 120 women with SLE and 120 age-matched control women. The TaqMan allelic discrimination assay was used for genotyping of rs3811050 and rs3811051. The frequency of the rs3811050 CT genotype was significantly lower in SLE patients compared to controls (30.8 vs. 50.0%; odds ratio = 0.49; 95% confidence interval = 0.28–0.86; corrected probability = 0.045). The rs3811051 genotype frequencies did not show significant differences between patients and controls. Rs3811050 and rs3811051 showed weak linkage disequilibrium (LD) as indicated by the estimated LD coefficient and correlation coefficient values (0.32 and 0.05, respectively), and two-locus haplotype analysis revealed no significant differences between patients and controls. The frequencies of the rs3811050 T allele (38.8 vs. 20.6%; probability = 0.029) and the rs3811051 G allele (56.3 vs. 38.2%; probability = 0.038) were significantly higher in patients with mild/moderate disease activity than in patients with high disease activity, but significance was not maintained after applying Bonferroni correction (corrected probability = 0.058 and 0.076, respectively). Serum IL-38 concentrations (median and interquartile range) were significantly decreased in patients compared with controls (69.5 [64.1–74.8] vs. 73.5 [66.1–82.9] pg/mL; probability = 0.03), but were not influenced by SNP genotypes. The heterozygous genotype of rs3811050, a 5'UTR variant, of the IL-38 encoding gene, IL1F10, is associated with a reduced risk of SLE among women. Furthermore, the rs3811050 T and rs3811051 G alleles may influence disease activity. In addition, serum IL-38 concentrations were down-regulated in SLE patients but were not affected by the rs3811050 and rs3811051 genotypes.

中文翻译：

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rs3811050（编码白细胞介素 38 (IL1F10) 的基因的 5 主要非翻译区变体）的低杂合性与系统性红斑狼疮风险降低相关

白介素38（IL-38）是近年来发现的一种炎症细胞因子，与系统性红斑狼疮（SLE）的发病机制有关。 IL-38 由 IL1F10（白细胞介素 1 家族成员 10）基因编码。该基因的遗传变异与多种自身免疫性疾病和炎症性疾病的易感性有关，但其与系统性红斑狼疮风险的关系尚未得到探讨。在这项病例对照研究中，在 120 名 SLE 女性和 120 名年龄匹配的对照女性中研究了 IL1F10 基因 5'UTR 的两个新变体 rs3811050 C/T 和 rs3811051 T/G 。 TaqMan 等位基因区分测定用于 rs3811050 和 rs3811051 的基因分型。与对照组相比，SLE 患者中 rs3811050 CT 基因型的频率显着较低（30.8 vs. 50.0%；比值比 = 0.49；95% 置信区间 = 0.28–0.86；校正概率 = 0.045）。 rs3811051 基因型频率在患者和对照之间没有显示出显着差异。 Rs3811050 和 rs3811051 显示弱连锁不平衡 (LD)，如估计的 LD 系数和相关系数值（分别为 0.32 和 0.05）所示，并且双基因座单倍型分析显示患者和对照之间没有显着差异。轻度/中度疾病活动性患者中 rs3811050 T 等位基因的频率（38.8 vs. 20.6%；概率 = 0.029）和 rs3811051 G 等位基因（56.3 vs. 38.2%；概率 = 0.038）的频率显着高于高活动度患者。疾病活动性，但应用 Bonferroni 校正后显着性未保持（校正概率分别 = 0.058 和 0.076）。与对照组相比，患者血清 IL-38 浓度（中位值和四分位数范围）显着降低（69.5 [64.1–74.8] vs. 73.5 [66.1–82.9] pg/mL；概率 = 0.03），但不受 SNP 基因型的影响。 rs3811050 的杂合基因型（IL-38 编码基因 IL1F10 的 5'UTR 变体）与女性 SLE 风险降低相关。此外，rs3811050 T 和 rs3811051 G 等位基因可能影响疾病活动。此外，SLE患者血清IL-38浓度下调，但不受rs3811050和rs3811051基因型的影响。