Sc-eQTL Unveil Immunogenetic Architecture of Polycystic Ovary Syndrome

This study on polycystic ovary syndrome (PCOS) used genome-wide association study (GWAS) data and single-cell expression quantitative trait loci (sc-eQTL) to explore the genetic and immune mechanisms of PCOS. Researchers identified 19 risk loci and prioritized 16 candidate causal genes, with about 30% being immune-related. They discovered 15 PCOS-associated signaling pathways, particularly involving T cell-mediated responses. Single-cell RNA sequencing highlighted the roles of NK cells, CD8 T cells, and CD4 T cells in PCOS pathogenesis. The study identified IRF1 and MAPRE1 as causal genes with specific regulatory effects in T cell subsets and NK cells, revealing immune dysregulation. These findings emphasize the importance of metabolic and immune-related genes in PCOS, offering insights into its pathophysiology and potential therapeutic targets.