Polymorphisms in the interleukin-22 receptor alpha-1 gene are associated with severe chronic rhinosinusitis.

Rationale: Stimulation of interleukin-22 receptor alpha-1 (IL22RA1) was reported to increase the innate immune responses in inflammatory diseases. Moreover, a reduced level of IL22RA1 was found in patients with recalcitrant CRS with nasal polyps.

Objective: To explore association between single nucleotide polymorphisms (SNPs) in IL22RA1 and severe CRS.

Methods: We extracted DNA from 206 cases with severe CRS and 196 postal code-matched controls. Twenty-three SNPs in the IL22RA1 gene were selected from the pooling-based genome-wide association study and from the CEU HapMap dataset and genotyped. PLINK software was used to determine association.

Results: After Bonferroni correction, three SNPs (rs4292900 P(nom) = 0.0006, OR = 1.757; rs4648936 P(nom) = 0.0011, OR = 1.716; rs16829225 P(nom) = 0.0014, OR = 1.977) show significant differences in allelic frequencies between cases and controls.

Conclusion: Polymorphisms in IL22RA1 are associated with severe CRS. Replication and functional studies are involved to better understand the mechanism by which these polymorphisms contribute to the pathogenesis of CRS.