FoxP3 rs3761548 polymorphism predicts autoimmune disease susceptibility: a meta-analysis

Background and aims: Autoimmune diseases (ADs) are associated with loss of self-tolerance leading to immune-mediated destruction of host tissues and organs. FoxP3 polymorphism (-3279 A/C, rs3761548) was shown to associate with AD susceptibility, but the results were inconsistent. This study performed a meta-analysis to investigate the FoxP3 -3279 A/C polymorphism for AD susceptibility.

Methods: A total of eight published case-control studies, including 1844 cases and 1857 controls were retrieved from the PubMed database for the meta-analysis. Heterogeneity was assessed with a standard Q-statistic test and I(2) test. Crude pooled odds ratios (ORs) with 95% confidence intervals (CIs) were used to estimate the FoxP3 polymorphism and AD risk according to the random-effective model and fixed-effective model.

Results: A significant relationship between FoxP3 -3279 A/C gene polymorphism and ADs was found under the allelic (OR: 1.477, 95% CI: 1.326-1.645, P = 0.000), homozygous (OR: 2.094, 95% CI: 1.390-3.153, P = 0.000), recessive (OR: 1.804, 95% CI: 1.083-3.008, P = 0.024), dominant (OR: 1.323, 95% CI: 1.154-1.516, P = 0.000), and additive (OR: 1.516, 95% CI: 1.360-1.689, P = 0.000) genetic models. However, there was no significant association between FoxP3 -3279 A/C polymorphism and ADs under the heterozygous genetic model (OR: 1.202, 95% CI: 0.899-1.606, P = 0.215).

Conclusion: FoxP3 -3279 A/C polymorphism may influence AD risk, especially, the A allele variant carriers of FoxP3 -3279 A/C polymorphism definitively associated with AD susceptibility.