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Background <p>Ankylosing 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 (<i>DEFB1</i>), and rs3806268 and rs10754558 (<i>NLRP3</i>) gene variants in AS patients with and without AAU.</p> Methods <p>A 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.</p> Results <p>In the case–control analysis after adjusment, the TT (rs11362) and CC (rs1800972) genotypes of the <i>DEFB1</i> gene were significantly associated with an increased risk of AS (OR = 6.89, 95% CI = 1.66–28.4, <i>p</i> = 0.008 and OR = 3.43, 95% CI = 1.02–11.5, <i>p</i> = 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, <i>p</i> = 0.009). No significant associations were observed for <i>NLRP3</i> polymorphisms individually. However, a strong interaction between rs1800972 and rs3806268 polymorphisms was observed (entropy = 22.95%).</p> Conclusions <p>These results suggest that <i>DEFB1</i> gene variants (rs11362 and rs1800972) are associated with an increased risk of developing AS. Specifically, rs1800972 is associated with increased susceptibility to AAU. While <i>NLRP3</i> variants did not show significant associations independently, their interaction with <i>DEFB1</i> variants suggests a possible synergistic effect on AAU development.</p>

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DEFB1 and NLRP3 gene variants are associated with acute anterior uveitis in ankylosing spondylitis: evidence of an innate immune interaction axis

  • 期刊论文

  • 发表日期：

    2025年12月29日

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  • Javier Fernández-Torres,
  • Yessica Zamudio-Cuevas,
  • Karina Martínez-Flores

摘要

Background

Ankylosing 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.

Methods

A 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.

Results

In 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%).

Conclusions

These 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.