Genome-Wide mRNA and lncRNA Expression Profiling to Uncover Their Role in the Molecular Pathogenesis of Developmental Dysplasia of the Hip

Developmental dysplasia of the hip (DDH) is a congenital disorder influenced by genetic and epigenetic factors. This study aimed to elucidate the molecular pathogenesis of DDH through a comprehensive transcriptomic analysis, identifying differentially expressed genes (DEGs) and long non-coding RNAs (lncRNAs) in hip joint capsules from DDH patients and healthy controls. RNA sequencing data from 12 samples (6 DDH, 6 controls) were retrieved from the NCBI database. Functional annotation was performed using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses via the DAVID tool. A protein-protein interaction (PPI) network of DEGs was constructed using STRING with medium confidence settings. Among 78,930 transcripts, 4.3% were significantly differentially expressed, according to DESeq2 analysis. A total of 3425 DEGs were identified (FDR < 0.05, |log2 FC| > 2), including 1008 upregulated and 2417 downregulated transcripts in DDH samples. Additionally, 1656 lncRNAs were detected among the DEGs. These findings enhance our understanding of the genetic and epigenetic landscape of DDH and highlight the involvement of key biological pathways such as cell cycle regulation and Wnt signaling. This study provides a foundation for future molecular research into the pathogenesis of DDH.