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,
LAMB
2
, COMP
,
APOA
2,
APOC
2,
APOC
3, and
A
2
M
, 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.