Zhao Lili, Xu Wenqi, Du Shushu, Xi Fengjia, Shi Xiaofei, Liu Rongzeng
Department of Immunology, College of Basic Medicine and Forensic Medicine, Henan University of Science and Technology, Luoyang, People's Republic of China.
Qingpu Traditional Chinese Medicine Hospital, Shanghai, People's Republic of China.
J Inflamm Res. 2025 Jun 11;18:7559-7569. doi: 10.2147/JIR.S515463. eCollection 2025.
Systemic lupus erythematosus (SLE) is a complex autoimmune condition distinguished by a wide range of clinical manifestations and numerous genetic predisposition factors. The aim of the current study was to analyze the association between the IRAK1 polymorphisms (rs3027898 and rs1059702) and SLE in a Chinese cohort.
A total of 150 SLE patients and 168 healthy controls of Chinese ethnicity were included in this study. The genotyping of IRAK1 was performed using sequence-specific primers (SSP)-polymerase chain reaction. Additionally, correlations between the SNPs and clinical manifestations of SLE were evaluated.
In comparison to the wild genotype CC of rs3027898, the homozygous mutation AA exhibited a significant association with a reduced risk of SLE across homozygous (AA vs CC, OR = 0.270, 95% CI = 0.086-0.847, = 0.017), dominant (CA+AA vs CC, OR = 0.601, 95% CI = 0.375-0.964, = 0.034) and recessive models (AA vs CA+CC, OR = 0.301, 95% CI = 0.097-0.937, = 0.029). The A allele of rs3027898 demonstrated a negative correlation with susceptibility to SLE (A vs C, OR = 0.580, 95% CI = 0.388-0.866, = 0.007). Furthermore, rs3027898 and rs1059702 were found to be in strong linkage disequilibrium (D' = 0.914, r = 0.809). The frequency of haplotype HT2 (A/G) was significantly lower in SLE patients compared to controls (OR = 0.465, 95% CI = 0.300-0.723, < 0.001), while haplotype HT3 (C/G) was positively correlated with an increased susceptibility to SLE (OR = 3.838, 95% CI = 1.406-10.480, = 0.005).
The findings suggest that polymorphisms in IRAK1 are associated with a reduced risk of SLE within a Chinese demographic. These genetic variations may serve as potential biomarkers for assessing SLE risk and offer novel perspectives on the molecular mechanisms that underpin the disease.
系统性红斑狼疮（SLE）是一种复杂的自身免疫性疾病，具有广泛的临床表现和众多遗传易感性因素。本研究的目的是分析中国人群中白细胞介素 -1 受体相关激酶 1（IRAK1）基因多态性（rs3027898 和 rs1059702）与系统性红斑狼疮之间的关联。
本研究纳入了 150 例中国汉族系统性红斑狼疮患者和 168 例健康对照。采用序列特异性引物（SSP）-聚合酶链反应对 IRAK1 进行基因分型。此外，还评估了单核苷酸多态性（SNP）与系统性红斑狼疮临床表现之间的相关性。
与 rs3027898 的野生基因型 CC 相比，纯合突变型 AA 在纯合子（AA 与 CC 相比，比值比[OR]=0.270，95%置信区间[CI]=0.086 - 0.847，P = 0.017）、显性（CA + AA 与 CC 相比，OR = 0.601，95%CI = 0.375 - 0.964，P = 0.034）和隐性模型（AA 与 CA + CC 相比，OR = 0.301，95%CI = 0.097 - 0.937，P = 0.029）中均显示与系统性红斑狼疮风险降低显著相关。rs3027898 的 A 等位基因与系统性红斑狼疮易感性呈负相关（A 与 C 相比，OR = 0.580，95%CI = 0.388 - 0.866，P = 0.007）。此外，发现 rs3027898 和 rs1059702 处于强连锁不平衡状态（D' = 0.914，r = 0.809）。与对照组相比，系统性红斑狼疮患者中单体型 HT2（A/G）的频率显著降低（OR = 0.465，95%CI = 0.300 - 0.723，P < 0.001），而单体型 HT3（C/G）与系统性红斑狼疮易感性增加呈正相关（OR = 3.838，95%CI = 1.406 - 10.480，P = 0.005）。
研究结果表明，在中国人群中，IRAK1 基因多态性与系统性红斑狼疮风险降低相关。这些基因变异可能作为评估系统性红斑狼疮风险的潜在生物标志物，并为该疾病的分子机制提供新的视角。
