ArticlemedRxiv : the preprint server for health sciences2026
Integrated mapping of human meniscus and cartilage eQTLs reveals shared and distinct osteoarthritis genetic drivers.
Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Osteoarthritis (OA) is a prevalent musculoskeletal disorder and a leading cause of global disability. Although meniscal damage is a major risk factor of OA pathogenesis, genetic regulatory studies have remained largely confined to articular cartilage. Here, we establish the first comprehensive expression quantitative trait locus (eQTL) map integrating whole-genome sequencing and bulk transcriptomics from human meniscus (n=112) and cartilage (n=113). Supported by single-nucleus multiomics (cartilage: 56,549 nuclei; meniscus: 34,343 nuclei), we uncovered highly tissue-specific genetic risk architectures. Colocalization with OA GWAS identified 27 meniscus-specific, 28 shared, and 20 cartilage-specific causal genes. Chromatin-informed fine-mapping and deconvolution elucidated distinct pathogenic mechanisms; notably, meniscus-specific signals converged on
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