Associations of FoxP3 gene polymorphisms with severe recurrent respiratory papillomatosis in Korean patients

BACKGROUND: FoxP3 is the most dependable marker for regulatory T cells which play a major role in immune tolerance. Foxp3 gene polymorphisms were associated with various autoimmune diseases and clearance of viral infections. We studied the association of Foxp3 polymorphisms in severe RRP patients. METHODS: A total of 30 Korean severe RRP patients and 195 healthy controls were enrolled. Foxp3 polymorphisms (rs5902434 del/ATT, rs3761548 C/A, rs3761549 C/T, and rs2232365 G/A) were determined by PCR and sequencing. RESULTS: Genotype frequencies (GF) of rs5902434 ATT/ATT and rs2232365 GG were significantly decreased in female RRP patients than controls (0.0% vs 23.0%, p = 0.039, OR = 9.4 for both). CONCLUSIONS: We showed that Foxp3 polymorphism of rs5902434 and rs2232365 could be an important protective factor in the susceptibility of severe RRP in female Koreans. Further studies on larger number of patients and other ethnic groups are needed to clarify the association.