Ubiquitous dysregulation of the Wnt pathway in immune thrombocytopenia genetic susceptibility.

ABSTRACT: The pathogenesis of immune thrombocytopenia (ITP) is complex and incompletely understood. Multiple cell types have been implicated, and their respective contribution is unclear. A recent genome-wide association study identified single-nucleotide polymorphisms (SNPs) associated with pediatric ITP within or near 5 genes in the canonical Wnt signaling pathway. To investigate whether this pathway was dysregulated in ITP and identify which cell types were involved, we leveraged extensive functional genomics and single-cell RNA sequencing (scRNA-seq) data. By linking the identified SNPs to likely regulated genes, we showed an enrichment in the Wnt pathway and identified 2 additional genes in this pathway involved in ITP. The SNPs affected regulation of the Wnt pathway genes in multiple cell type

SUBMITTER: Lecluze E 

PROVIDER: S-EPMC12607065 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature