Zou Qinling, Liu Liu, Chu Liepeng, Xue Chao, Zhu Yan, Deng Jin
Department of Nephrology, The First Affiliated Hospital, Hengyang Medical School, University of South China, Hengyang, Hunan 421001, China.
Department of Nephrology, The Second Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530007, China.
Hum Immunol. 2025 Jul;86(4):111310. doi: 10.1016/j.humimm.2025.111310. Epub 2025 Apr 18.
Neutrophils and monocytes are involved in the pathogenesis of AAV(antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis), and secreted IL-1β is also closely related to the pathogenesis of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis. This study aimed to investigate the association between IL1B gene polymorphisms and AAV susceptibility in the Guangxi population.We collected peripheral blood from 271 AAV patients and 297 healthy controls for DNA extraction. Genotyping of rs1143627, rs16944, and rs2853550 was performed via multiplex polymerase chain reaction combined with high-throughput sequencing. This study revealed that the allele frequencies of rs1143627 and rs16944 varied significantly between the case groups and the healthy controls (p = 0.015, p = 0.036). There was an increased risk of homozygous mutations in the rs1143627 codominant and recessive models (p = 0.046, p = 0.025). Similarly, the risk of a homozygous rs16944 mutation was increased (p = 0.08, p = 0.03). In particular, in Han Chinese women, the risk of disease development is increased. There is strong linkage disequilibrium between rs1143627 and rs16944. Among the five haplotypes,no haplotype was associated with the occurrence of disease (p > 0.05). IL1B gene polymorphisms (rs1143627, rs16944) may increase the risk of ANCA-associated vasculitis in the Guangxi population.
中性粒细胞和单核细胞参与抗中性粒细胞胞浆抗体（ANCA）相关血管炎（AAV）的发病机制，分泌的白细胞介素-1β（IL-1β）也与抗中性粒细胞胞浆抗体（ANCA）相关血管炎的发病机制密切相关。本研究旨在探讨广西人群中白细胞介素-1β（IL1B）基因多态性与AAV易感性之间的关联。我们收集了271例AAV患者和297例健康对照者的外周血用于DNA提取。通过多重聚合酶链反应结合高通量测序对rs1143627、rs16944和rs2853550进行基因分型。本研究显示，病例组和健康对照组之间rs1143627和rs16944的等位基因频率存在显著差异（p = 0.015，p = 0.036）。rs1143627共显性和隐性模型中纯合突变风险增加（p = 0.046，p = 0.025）。同样，rs16944纯合突变风险增加（p = 0.08，p = 0.03）。特别是在汉族女性中，疾病发生风险增加。rs1143627和rs16944之间存在强连锁不平衡。在五种单倍型中，没有单倍型与疾病发生相关（p > 0.05）。IL1B基因多态性（rs1143627、rs16944）可能增加广西人群中ANCA相关血管炎的风险。
