Pilot study using a discrete mathematical approach for topological analysis and ssGSEA of gene expression in autosomal recessive polycystic kidney disease.

ABSTRACT: Autosomal recessive polycystic kidney disease (ARPKD) is a severe genetic disorder characterized by renal cystogenesis and hepatic fibrosis, primarily associated with PKHD1 mutations. While differential expression analysis (DEG) has identified key genes involved in ARPKD, their network-level interactions remain unclear. Recent studies have implicated WNT signaling in ARPKD pathogenesis, but a topological framework may provide additional insights into gene community structures. This study applied a network-based approach integrating single-sample gene set enrichment analysis (ssGSEA) and topological centrality analysis to investigate gene communities in ARPKD. We identified three key communities: Community 2, centered on IFT22, exhibited stable activation in both ARPKD and healthy samples,

SUBMITTER: Okui N 

PROVIDER: S-EPMC12049503 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature