As one of the common
birth defects worldwide, nonsyndromic
microtia is a complex disease that results from interactions between environmental and genetic factors. However, the underlying causes of nonsyndromic
microtia are currently not well understood. The present study determined transcriptomic and proteomic profiles of auricular cartilage tissues in 10 patients with third-degree nonsyndromic
microtia and five control subjects by
RNA microarray and tandem mass tag-based quantitative proteomics technology. Relative
mRNA and
protein abundances were compared and evaluated for their function and putative involvement in nonsyndromic
microtia. A total of 3971 differentially expressed genes and 256 differentially expressed
proteins were identified. Bioinformatics analysis demonstrated that some of these genes and
proteins showed potential associations with nonsyndromic
microtia. Thirteen
proteins with the same trend at the
mRNA level obtained by the integrated analysis were validated by parallel reaction monitoring analysis. Several key genes, namely, LAMB2, COMP, APOA2,
APOC2, APOC3, and A2M, were found to be dysregulated, which could contribute to nonsyndromic
microtia. The present study is the first report on the transcriptomic and proteomic integrated analysis of nonsyndromic
microtia using the same auricular cartilage sample. Additional studies are required to clarify the roles of potential key genes in nonsyndromic
microtia.