ArticleHuman molecular genetics2022
A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis.
Article in Human molecular genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 30 citations in OpenAlex.
- Omics Studies in Osteoarthritis: A Review of Molecular Mechanisms and Candidate Molecules.Biomolecules · 2026Review
- Transcriptome-wide profiling of cystic and solid vestibular schwannomas reveals candidate long non-coding RNA signatures.Molecular biology reports · 2026Article
- Variant-resolved prediction of context-specific isoform variation with a graph-based attention model.Cell genomics · 2026Article
- Integrated long-read transcriptomic profiling of peripheral blood from ankylosing spondylitis patients identifies regulatory shifts and core genes associated with programmed cell death.Frontiers in immunology · 2026Article
- Emerging roles of long non-coding RNAs in osteoarthritis: from molecular mechanisms to therapeutic opportunities.RNA biology · 2025Review
- Response splicing quantitative trait loci in primary human chondrocytes identify putative osteoarthritis risk genes.Nature communications · 2025Article
- Recent advances in omics and the integration of multi-omics in osteoarthritis research.Arthritis research & therapy · 2025Review
- Progress in multi-omics studies of osteoarthritis.Biomarker research · 2025Review
- Alternative Splicing: A Critical Regulator in Human Bone Biology and Tumor Progression.Research (Washington, D.C.) · 2025Review
- The intersection of aging and estrogen in osteoarthritis.npj women's health · 2025Review
- Primary cartilage transcriptional signatures reflect cell-type-specific molecular pathways underpinning osteoarthritis.American journal of human genetics · 2024Article
- Response splicing QTLs in primary human chondrocytes identifies putative osteoarthritis risk genes.bioRxiv : the preprint server for biology · 2024Article
- Get Spliced: Uniting Alternative Splicing and Arthritis.International journal of molecular sciences · 2024Review
- Primary osteoarthritis chondrocyte map of chromatin conformation reveals novel candidate effector genes.Annals of the rheumatic diseases · 2024Article
- DDX5 inhibits hyaline cartilage fibrosis and degradation in osteoarthritis via alternative splicing and G-quadruplex unwinding.Nature aging · 2024Article
- Epigenomic profiling of the infrapatellar fat pad in osteoarthritis.Human molecular genetics · 2024Article
- Emerging roles of RNA binding proteins in intervertebral disc degeneration and osteoarthritis.Orthopaedic surgery · 2023Review
- Genetic underpinning of the comorbidity between type 2 diabetes and osteoarthritis.American journal of human genetics · 2023Article
- NEAT1-mediated miR-150-5p downregulation regulates b-catenin expression in OA chondrocytes.Functional & integrative genomics · 2023Article
- Distinct regulatory functions and biological roles of lncRNA splice variants.Molecular therapy. Nucleic acids · 2023Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 4 countries.
Funding
Abstract
Osteoarthritis is a prevalent joint disease and a major cause of disability worldwide with no curative therapy. Development of disease-modifying therapies requires a better understanding of the molecular mechanisms underpinning disease. A hallmark of osteoarthritis is cartilage degradation. To define molecular events characterizing osteoarthritis at the whole transcriptome level, we performed deep RNA sequencing in paired samples of low- and high-osteoarthritis grade knee cartilage derived from 124 patients undergoing total joint replacement. We detected differential expression between low- and high-osteoarthritis grade articular cartilage for 365 genes and identified a 38-gene signature in osteoarthritis cartilage by replicating our findings in an independent dataset. We also found differential expression for 25 novel long non-coding RNA genes (lncRNAs) and identified potential lncRNA interactions with RNA-binding proteins in osteoarthritis. We assessed alterations in the relative usage of individual gene transcripts and identified differential transcript usage for 82 genes, including ABI3BP, coding for an extracellular matrix protein, AKT1S1, a negative regulator of the mTOR pathway and TPRM4, coding for a transient receptor potential channel. We further assessed genome-wide differential splicing, for the first time in osteoarthritis, and detected differential splicing for 209 genes, which were enriched for extracellular matrix, proteoglycans and integrin surface interactions terms. In the largest study of its kind in osteoarthritis, we find that isoform and splicing changes, in addition to extensive differences in both coding and non-coding sequence expression, are associated with disease and demonstrate a novel layer of genomic complexity to osteoarthritis pathogenesis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.