IL1B gene polymorphisms (rs1143627, rs16944) increase the risk of ANCA-associated vasculitis

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.