Sc-eQTL Unveil Immunogenetic Architecture of Polycystic Ovary Syndrome
October 2025
polycystic ovary syndrome PCOS genome-wide association study single-cell expression quantitative trait loci sc-eQTL immune cells risk loci candidate causal genes T cell-mediated responses single-cell RNA sequencing NK cells CD8 T cells CD4 T cells IRF1 MAPRE1 metabolic genes immune-related genes T cells
TLDR PCOS involves genetic and immune factors, especially T cells, affecting its development.
This study investigates the genetic and immune mechanisms underlying polycystic ovary syndrome (PCOS) by integrating genome-wide association study data and single-cell expression quantitative trait loci (sc-eQTL) across various immune cells. Researchers identified 19 risk loci and prioritized 16 candidate causal genes, with about 30% being immune-related. The study highlights 15 PCOS-associated signaling pathways, particularly involving T cell-mediated responses. Single-cell RNA sequencing implicated NK cells, CD8 T cells, and CD4 T cells in PCOS pathogenesis. The sc-eQTL colocalization analysis identified IRF1 and MAPRE1 as causal genes with regulatory effects in specific T cell subsets and NK cells. The findings emphasize the roles of metabolic and immune-related genes in PCOS, enhancing understanding of its pathophysiology and potential therapeutic targets.
