JAG2: A Potential Biomarker for Microtia Identified by Integrated RNA Transcriptome Analysis.

INTRODUCTION

Microtia, a prevalent congenital maxillofacial deformity, significantly impacts the physical and psychological health of children. Its etiology, especially in non-syndromic cases, remains a complex and partially understood domain, complicating etiological treatment. Recent studies pointed to a genetic predisposition in non-syndromic microtia, yet research on susceptible or pathogenic genes is limited.

OBJECTIVES

This study focused on identifying key biomarker genes in microtia cartilage to elucidate pathogenesis and assist in prenatal diagnosis.

METHODS

We first collated two bulk transcriptome datasets from the GEO database, followed by functional enrichment analysis and Weighted Gene Co-expression Network Analysis (WGCNA) to pinpoint differentially expressed genes (DEGs) and gene modules. The subsequent intersection of DEGs with WGCNA modules, aided by support vector machine-recursive feature elimination (SVM-RFE) and protein-protein interaction (PPI) networks, predicted potential susceptibility genes for microtia. Finally, we integrated bulk RNA sequencing with single-cell data via the "scissor" R package and further validated it with Real-time PCR and immunofluorescence.

RESULTS

We identified JAG2 as a prominent biomarker for microtia, evidenced by its significant upregulation in microtia cartilage.

CONCLUSION

Our findings implicate JAG2 in microtia development and suggest its role in chondrocyte maturation and differentiation through Notch signaling pathway activation, shedding light on the potential pathogenesis of microtia.