ArticleBMC medical genomics2020
Genome-wide analysis of aberrant methylation of enhancer DNA in human osteoarthritis.
Article in BMC medical genomics, 2020. 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, 51 citations in OpenAlex.
- Methylation regulatory networks in osteoarthritis: mechanisms and targeted therapies.Journal of translational medicine · 2026Review
- Multidimensional regulatory mechanisms and translational potential of epigenetic networks in the rheumatoid arthritis disease course.Frontiers in immunology · 2026Review
- MOPSOGAT: Predicting CircRNA-Disease Associations via Improved Multi-objective Particle Swarm Optimization and Graph Attention Network.Interdisciplinary sciences, computational life sciences · 2025Article
- Progress in multi-omics studies of osteoarthritis.Biomarker research · 2025Review
- DNA methylation and its influence on the pathogenesis of osteoarthritis: a systematic literature review.EFORT open reviews · 2025Article
- Review
- Whole genome methylation sequencing in blood from persons with mild cognitive impairment and dementia due to Alzheimer's disease identifies cognitive status.bioRxiv : the preprint server for biology · 2024Article
- Feature Paper in Oral Physiology and Pathology.Life (Basel, Switzerland) · 2024Article
- Epigenetics in Knee Osteoarthritis: A 2020-2023 Update Systematic Review.Life (Basel, Switzerland) · 2024Review
- Whole genome methylation sequencing in blood identifies extensive differential DNA methylation in late-onset dementia due to Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Multimodal Omics Approaches to Aging and Age-Related Diseases.Phenomics (Cham, Switzerland) · 2024Review
- The Role of Genetics and Epigenetic Regulation in the Pathogenesis of Osteoarthritis.International journal of molecular sciences · 2023Review
- Identification of key candidate genes and pathways in rheumatoid arthritis and osteoarthritis by integrated bioinformatical analysis.Frontiers in genetics · 2023Article
- Current understanding of osteoarthritis pathogenesis and relevant new approaches.Bone research · 2022Review
- Identification of TMEM129, encoding a ubiquitin-protein ligase, as an effector gene of osteoarthritis genetic risk.Arthritis research & therapy · 2022Article
- Activity limitation and participation restriction in Osteoarthritis and Rheumatoid arthritis: findings based on the National Health and Nutritional Examination Survey.BMC musculoskeletal disorders · 2022Article
- DNA methylation and noncoding RNA in OA: Recent findings and methodological advances.Osteoarthritis and cartilage open · 2021Article
- The regulatory pattern of target gene expression by aberrant enhancer methylation in glioblastoma.BMC bioinformatics · 2021Article
- DNA Methylation Signatures of Bone Metabolism in Osteoporosis and Osteoarthritis Aging-Related Diseases: An Updated Review.International journal of molecular sciences · 2021Review
- SUSCC: Secondary Construction of Feature Space based on UMAP for Rapid and Accurate Clustering Large-scale Single Cell RNA-seq Data.Interdisciplinary sciences, computational life sciences · 2021Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOsteoarthritis is a chronic musculoskeletal disease characterized by age-related gradual thinning and a high risk in females. Recent studies have shown that DNA methylation plays important roles in osteoarthritis. However, the genome-wide pattern of methylation in enhancers in osteoarthritis remains unclear.
methodsTo explore the function of enhancers in osteoarthritis, we quantified CpG methylation in human enhancers based on a public dataset that included methylation profiles of 470,870 CpG probes in 108 samples from patients with hip and knee osteoarthritis and hip tissues from healthy individuals. Combining various bioinformatics analysis tools, we systematically analyzed aberrant DNA methylation of the enhancers throughout the genome in knee osteoarthritis and hip osteoarthritis.
resultsWe identified 16,816 differentially methylated CpGs, and nearly half (8111) of them were from enhancers, suggesting major DNA methylation changes in both types of osteoarthritis in the enhancer regions. A detailed analysis of hip osteoarthritis identified 2426 differentially methylated CpGs in enhancers between male and female patients, and 84.5% of them were hypomethylated in female patients and enriched in phenotypes related to hip osteoarthritis in females. Next, we explored the enhancer methylation dynamics among patients with knee osteoarthritis and identified 280 differentially methylated enhancer CpGs that were enriched in the human phenotypes and disease ontologies related to osteoarthritis. Finally, a comparison of enhancer methylation between knee osteoarthritis and hip osteoarthritis revealed organ source-dependent differences in enhancer methylation.
conclusionOur findings indicate that aberrant methylation of enhancers is related to osteoarthritis phenotypes, and a comprehensive atlas of enhancer methylation is useful for further analysis of the epigenetic regulation of osteoarthritis and the development of clinical drugs for treatment of osteoarthritis.
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