Pinpointing novel targets for osteoarthritis: A comprehensive cross-omics integration analysis

Wen-Bin Xu1,2, Zhi-Qiang Que3, Kun Tao1,2

  • 1Department of Joint Surgery, Ningbo, Zhejiang, China.

Medicine
|August 27, 2025
PubMed

Insights

This study identifies key genes like USP8 and DLK1 involved in osteoarthritis (OA) progression using multi-omics data. These findings highlight potential new therapeutic targets for developing novel OA treatments.

Area of Science:

  • Genetics
  • Molecular Biology
  • Pharmacology

Background:

  • Osteoarthritis (OA) is a prevalent degenerative joint disease with current treatments focused on symptom management.
  • Targeted therapies for OA are gaining attention, necessitating the identification of novel therapeutic targets.
  • Multi-omics approaches offer innovative strategies for uncovering potential therapeutic targets in complex diseases like OA.

Purpose of the Study:

  • To identify genetic markers and molecular pathways associated with Osteoarthritis (OA) using integrated multi-omics data.
  • To explore potential drug candidates and therapeutic targets for OA through molecular docking and pathway analysis.
  • To provide a comprehensive understanding of the molecular mechanisms underlying OA for novel therapeutic development.

Main Methods:

  • Integrated multi-omics analyses including expression quantitative trait loci (eQTL), protein quantitative trait loci (pQTL), and methylation quantitative trait loci (mQTL).
  • Summary-data-based Mendelian randomization and colocalization analyses to identify genetic associations.
  • Single-cell sequencing, molecular docking, and USP8-centered protein-protein interaction (PPI) network analyses.

Main Results:

  • Four key genes (USP8, DLK1, OMG, SNUPN) were identified as significantly associated with OA through multi-omics integration.
  • USP8 showed strong multi-omics evidence linking it to OA, while DLK1, OMG, and SNUPN were also identified.
  • Molecular docking predicted GDC-0134 as a potential drug targeting DLK1, and genetic associations were validated in a replication cohort.

Conclusions:

  • Multi-omics integration successfully identified key genes and pathways implicated in OA pathogenesis.
  • USP8 and DLK1 emerged as promising therapeutic targets for developing novel OA treatments.
  • The study provides a foundation for developing targeted therapies to modify OA progression.

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