Association between FOXP3 polymorphisms and susceptibility to autoimmune diseases: A meta-analysis

Objective: The aim of this study was to explore whether the FOXP3 -3279 A/C polymorphism and (GT)n microsatellite polymorphisms are associated with susceptibility to autoimmune diseases. Methods: A meta-analysis was conducted on the associations between the FOXP3 -3279 A/C polymorphism and (GT)(15) and (GT)(16) polymorphisms and autoimmune diseases. Results: Twenty-two comparative studies with a total of 7962 patients and 7453 controls were included in the meta-analysis. Meta-analysis revealed an association between autoimmune disease and the FOXP3 -3279 AA+AC genotype (OR=1.480, 95% CI=1.263-1.614, p<1.0x10(-9)), and stratification by ethnicity indicated a significant association between the FOXP3 -3279 AA+AC genotype and autoimmune diseases in Asians (OR=1.416, 95% CI=1.225-1.637, p=2.5x10(-7)) and non-Caucasians (OR=1.432, 95% CI=1.245-1.647, p=7.5x10(-8)). In addition, corrected p values for multiple testing remained significant. Meta-analysis revealed no association between autoimmune disease and the FOXP3 (GT)(15) allele (OR=1.051, 95% CI=0.933-1.183, p=0.413). Similarly, the FOXP3 (GT)(16) allele showed no associations with autoimmune disease. Conclusions: This meta-analysis indicates that the FOXP3 -3279 A/C polymorphism is associated with susceptibility to autoimmune disease in Asians and non-Caucasians.