An Integrated Analysis Reveals Ciliary Abnormalities in Antrochoanal Polyps

OBJECTIVE: The mechanisms underlying the antrochoanal polyps (ACPs) remained unclear. We aimed to identify the differentially expressed genes (DEGs) profile, the cilia-related genes expression levels and the morphological characteristics of ciliated cells in patients with ACPs. METHODS: We obtained ACPs biopsy samples from 28 patients and uncinate process from 27 healthy controls. Whole-transcriptome RNA sequencing, immunofluorescence staining, quantitative polymerase chain reaction, and scanning electron microscopy were performed. RESULTS: 3739 DEGs were detected between ACPs and controls, and Gene Ontology analysis on these DEGs implicated cilium assembly, cilium motility, cilia component, cilia function, inflammatory response and immune system process were included in ACPs pathogenesis. Gene set enrichment analysis implicated sets of genes regulated in processes associated with cilium organization, cilium morphogenesis, cilium movement, axoneme assembly, axonemal dynein complex assembly and cell projection assembly. The expression levels of cilia-related genes (FOXJ1, DNAI1, DNAH9, RSPH1, RSPH9 and RSPH4A) were validated by quantitative polymerase chain reaction (Fold change >2, P<0.05) and FOXJ1 was positive correlated with DNAI1, DNAH9, RSPH4, RSPH1, RSPH9, DNAH5, DNALI1 in ACPs (all P < 0.05). Based on our semi-quantitative scoring system, median scores of α-Tubulin, DNAI1 and RSPH4A were significantly higher in ACPs than in controls. In addition, loss of ciliated cells and a shorter cilia pattern were further confirmed by immunofluorescence staining and scanning electron microscopy in ACPs. CONCLUSION: The aberrant expression of cilia-related genes and ciliary structural impairment are an important pathological phenomenon in ACPs, and our findings may provide novel insights into understanding the mysterious mechanisms underlying ACPs.