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Hum Immunol. 2012 Sep;73(9):939-45. doi: 10.1016/j.humimm.2012.07.319. Epub 2012 Jul 23.

Association between polymorphisms in FOXP3 and EBI3 genes and the risk for development of allergic rhinitis in Chinese subjects.

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Department of Otolaryngology, Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, PR China.



To investigate whether polymorphisms in forkhead box protein 3 (FOXP3) and EBV-induced gene 3 (EBI3) genes are associated with allergic rhinitis (AR) in Chinese patients.


A population-based case-control association study design was used to assess the risk of AR conferred by single nucleotide polymorphisms (SNPs) in FOXP3 and EBI3 gene regions. DNA was extracted from 378 patients with AR and 330 healthy controls and analyzed for selected and tagged SNPs. Overall, 9 SNPs were selected and genotyped.


In the single-locus analyses of AR risk, the allele frequencies of rs428253 in EBI3 gene were significantly different between the AR patients and control subjects (P=1.00E-04); even after 10,000 permutations (P<0.05). Logistic regression analyses, adjusted for age and gender, further showed a significant association between EBI3 rs428253 and protective effects against AR (P=0.015, OR=0.624 for CG/CC). The diplotype rs3761548-rs4824747 in FOXP3 gene with "AG" was associated with risk of AR (P=0.031, OR=1.755).


The findings of this study support the potential role of regulatory T cells and genetic variations in the regions around FOXP3 and EBI3 genes in modifying the risk for AR development in Chinese patients.

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