Identification of key genes and signaling pathways in microtia by the analysis of transcriptomics
Microtia is a complex congenital defect which is one of the most common birth defects in the world. Depending on the degree of deformity, microtia can be divided into many types. However, it is not clear whether the different degrees of microtia share the same underlying mechanism. The present study detected transcriptomic profiles of auricular cartilage tissues in 6 patients with mild and severe malformation and 3 control auricular cartilage tissues by RNA-seq technology. Relative mRNA abundances were compared and evaluated for their function and putative involvemen.t in microtia. A total of 1058, 1648 and 1150 differentially expressed genes respectively in the group of MIC-?-vs-NOR, MIC-?-vs-NOR and MIC-?-vs-MIC-?were identified. Bioinformatics analysis demonstrated that some of these genes showed potential associations with microtia. In the MIC-? microtia, the changed biological processes mainly enriched in mitosis. And in the MIC-? microtia, the changed biological processes not only enriched in mitosis but also in migration. The key genes, IL-6 and COMP, and key signaling pathway, PI3K-AKT signaling pathway, were found to be dysregulated, which could contribute to microtia. The present study was a report on the transcriptomic analysis of microtia using the auricular samples from different degrees of microtia. Additional studies are required to clarify the roles of potential key genes in microtia. Overall design: Comparative gene expression profiling analysis of RNA-seq data for normal auricular cartilage (NOR) , mild deformity microtia (MIC-?) and severe deformity microtia (MIC-?)