ArticleEBioMedicine2025
Genetic transcriptional regulation profiling of cartilage reveals pathogenesis of osteoarthritis.
Article in EBioMedicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Review
- Genetic alternative splicing regulation mapping of cartilage and synovium reveals tissue-specific mechanisms of joint-related traits.Nature communications · 2026Article
- Investigating Sex-Linked miRNAs for Potential Osteoarthritis Therapy Biomarkers.International journal of molecular sciences · 2026Article
- Programmed cell death in osteoarthritis.Apoptosis : an international journal on programmed cell death · 2026Review
- Epigenetic regulation in osteoarthritis: recent updates and emerging mechanisms.Frontiers in genetics · 2026Review
- Analysis of potential molecular targets and mechanisms of brominated flame retardants in causing osteoarthritis using network toxicology, machine learning, SHAP analysis, and molecular dynamics simulation.BMC pharmacology & toxicology · 2025Article
- Mechanistic insights into non-coding RNAs regulate autophagy in chondrocytes and their contribution to osteoarthritis.Frontiers in medicine · 2025Review
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15 authors.
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Abstract
backgroundGenome-wide association studies (GWAS) have identified more than one hundred risk loci for osteoarthritis (OA). Identifying the effector genes and deciphering the underlying regulatory mechanisms are of great importance but remains challenging due to limited availability of OA-related tissue data. This study aims to address this issue by generating a cartilage expression quantitative trait loci (eQTLs) and a functional fine-mapping resource.
methodsWe performed cis-eQTL analysis using genomics and cartilage transcriptomics data from 204 patients with OA (largest sample size to date). Cell type-interaction eQTL analysis (ci-eQTL) was conducted to explore the chondrocyte subtype dependency of eQTL effects. Co-localization analysis was used to nominate effector genes of OA GWAS risk loci. A deciphering pipeline was established to identify candidate causal variants in eQTL loci that regulate gene expression through the alteration of chromatin accessibility or disruption of transcription factors (TFs) binding to regulatory elements.
findingsWe identified 3352 independent eQTLs for 3109 genes, 120 eQTL-gene pairs showed chondrocyte subtype dependency. We identified 19 new OA risk genes. We identified 117 causal eQTLs exhibiting allele-specific open chromatin (ASoC) and 547 eQTLs involved in transcription factor binding disruption (TBD). Functional validation showed that the T allele of the OA risk variant rs11750646 enhances the AR binding affinity to an open chromatin region, thereby promoting the expression of the OA-related gene PIK3R1.
interpretationOur findings provide insights into the unique regulatory landscape of cartilage and elucidate potential mechanisms underlying OA pathogenesis.
fundingThis work was supported by National Natural Science Foundation of China (32470639, 82372458, and 82170896); Science Fund for Distinguished Young Scholars of Shaanxi Province (2025JC-JCQN-054); Innovation Capability Support Program of Shaanxi Province (2022TD-44, 2024RS-CXTD-86); Key Research and Development Project of Shaanxi Province (2023-YBSF-180); China Postdoctoral Science Foundation (2024M752561); and the Fundamental Research Funds for the Central Universities.
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