Immune cell-specific gene expression and its causal role in osteoporosis and bone mineral density: Insights from single-cell eQTL and GWAS data integration.

ABSTRACT: Osteoporosis (OP) is a common metabolic bone disease, with genetic and immune system factors playing crucial roles in its pathogenesis. With the advancement of single-cell RNA sequencing (scRNA-seq), gene expression regulation at the immune cell subtype level has been more deeply explored. In this study, we integrated single-cell expression quantitative trait loci data with genome-wide association study data to systematically investigate the causal relationships between immune cell-specific gene expression and OP risk/ bone mineral density (BMD). Through summary-data-based Mendelian randomization, two-sample Mendelian randomization, Steiger directionality tests, and colocalization analysis, we identified 7 genes in specific immune cell types that are associated with OP/BMD phenotypes, incl

SUBMITTER: Wang X 

PROVIDER: S-EPMC12622667 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature