Association of CSF2, IL12B, IL23R, TNF, IL6 and IL10 Gene Polymorphisms with Susceptibility to Takayasu Arteritis

Background: Takayasu arteritis (TA) is a large-vessel vasculitis with an incompletely understood pathogenesis, in which genetic factors are thought to play an important role. Cytokine-mediated immune pathways, particularly those involving Th1 and Th17 responses, have been implicated in the immunopathogenesis of TA, making cytokine gene polymorphisms plausible genetic susceptibility markers. Methods: Functional single-nucleotide polymorphisms in selected cytokine- and receptor-encoding genes (IL12B, IL23R, IL6, TNF, IL10, and CSF2) were analyzed in 33 patients with TA and 486 healthy Serbian controls using TaqMan genotyping assays. Allele and genotype frequencies were compared between groups. Results: A nominally significant association was observed only for IL12B rs3212227. The T allele and TT genotype were less frequent in patients compared with controls (71.21% vs. 82.02%, p = 0.037; 48.48% vs. 66.67%, p = 0.041, respectively), suggesting a potential protective effect. No significant associations were detected for polymorphisms in IL23R, IL6, TNF, IL10, or CSF2. Conclusions: Our findings support the potential role of IL12B in genetic susceptibility to Takayasu arteritis, while other examined cytokine gene polymorphisms showed no statistically significant association. These results highlight the importance of the IL-12/IL-23 axis in disease pathogenesis and suggest possible population-specific genetic effects. Further studies in larger and independent cohorts are warranted to validate these findings.