ArticleInternational ophthalmology2025
DEFB1 and NLRP3 gene variants are associated with acute anterior uveitis in ankylosing spondylitis: evidence of an innate immune interaction axis.
Article in International ophthalmology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundAnkylosing spondylitis (AS) is a chronic inflammatory disease with a strong genetic component, frequently accompanied by extra-articular manifestations such as acute anterior uveitis (AAU). This study aimed to evaluate the association of the rs11362 and rs1800972 (DEFB1), and rs3806268 and rs10754558 (NLRP3) gene variants in AS patients with and without AAU.
methodsA case control-study was conducted on 58 patients with AS and 70 healthy controls. Genotyping was performed using the TaqMan® SNP Genotyping Assay. Genotype frequencies were compared between studied groups and subgroups, and associations were estimated by logistic regression models. Interactions between these variants were also evaluated.
resultsIn the case-control analysis after adjusment, the TT (rs11362) and CC (rs1800972) genotypes of the DEFB1 gene were significantly associated with an increased risk of AS (OR = 6.89, 95% CI = 1.66-28.4, p = 0.008 and OR = 3.43, 95% CI = 1.02-11.5, p = 0.046, respectively). Then, in the subanalysis, the GC (rs1800972) genotype was associated with an increased risk of AAU (OR = 9.93, 95% CI = 1.76-55.7, p = 0.009). No significant associations were observed for NLRP3 polymorphisms individually. However, a strong interaction between rs1800972 and rs3806268 polymorphisms was observed (entropy = 22.95%).
conclusionsThese results suggest that DEFB1 gene variants (rs11362 and rs1800972) are associated with an increased risk of developing AS. Specifically, rs1800972 is associated with increased susceptibility to AAU. While NLRP3 variants did not show significant associations independently, their interaction with DEFB1 variants suggests a possible synergistic effect on AAU development.
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