ArticleOsteoarthritis and cartilage2020
Multi-tissue epigenetic analysis of the osteoarthritis susceptibility locus mapping to the plectin gene PLEC.
Article in Osteoarthritis and cartilage, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture.Human molecular genetics · 2025Pooled it
- Advances in heterogeneity and classification of osteoarthritis.Bone research · 2026Review
- Defining subcellular synovial responses in TMJ osteoarthritis onset via mechanical stress and articular disk derangement models.International journal of oral science · 2026Article
- Peripheral blood DNA methylation changes are predictive of incident radiographic osteoarthritis development: Data and biospecimens from the osteoarthritis initiative.Osteoarthritis and cartilage open · 2025Article
- Knee Health Is a Major Determinant of Mobility Across the Healthspan.Journal of functional morphology and kinesiology · 2025Review
- Review
- Machine Learning-Derived Diverse Regulated Cell Death Patterns for Therapeutic Target Identification in Glaucoma.International journal of general medicine · 2025Article
- Comparative Analysis of Osteoarthritis Therapeutics: A Justification for Harnessing Retrospective Strategies via an Inverted Pyramid Model Approach.Biomedicines · 2024Review
- Prevalence of and gene regulatory constraints on transcriptional adaptation in single cells.Genome biology · 2024Article
- Optimization strategies for mesenchymal stem cell-based analgesia therapy: a promising therapy for pain management.Stem cell research & therapy · 2024Review
- Osteoarthritis as an Enhanceropathy: Gene Regulation in Complex Musculoskeletal Disease.Current rheumatology reports · 2024Review
- HSPB1 as an RNA-binding protein mediates the pathological process of osteoarthritis.Journal of orthopaedic surgery and research · 2024Article
- Epigenomic profiling of the infrapatellar fat pad in osteoarthritis.Human molecular genetics · 2024Article
- Epigenetics in Knee Osteoarthritis: A 2020-2023 Update Systematic Review.Life (Basel, Switzerland) · 2024Review
- Prevalence of and gene regulatory constraints on transcriptional adaptation in single cells.bioRxiv : the preprint server for biology · 2023Article
- Effects of Copy Number Variations in the Plectin (Animals : an open access journal from MDPI · 2023Article
- Mediation of the Same Epigenetic and Transcriptional Effect by Independent Osteoarthritis Risk-Conferring Alleles on a Shared Target Gene, COLGALT2.Arthritis & rheumatology (Hoboken, N.J.) · 2023Article
- Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues.Arthritis research & therapy · 2023Article
- An epigenome-wide view of osteoarthritis in primary tissues.American journal of human genetics · 2022Article
- Multi-omics molecular biomarkers and database of osteoarthritis.Database : the journal of biological databases and curation · 2022Article
Corrections and comments
- Commented on by
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveIn cartilage, the osteoarthritis (OA) associated single nucleotide polymorphism (SNP) rs11780978 correlates with differential expression of PLEC, and with differential methylation of PLEC CpG dinucleotides, forming eQTLs and mQTLs respectively. This implies that methylation links chondrocyte genotype and phenotype, thus driving the functional effect of this genetic risk signal. PLEC encodes plectin, a cytoskeletal protein that enables tissues to respond to mechanical forces. We sought to assess whether these PLEC functional effects were cartilage specific.
methodCartilage, fat pad, synovium and peripheral blood were collected from patients undergoing arthroplasty. PLEC CpGs were analysed for mQTLs and allelic expression imbalance (AEI) was performed to test for eQTLs. Plectin was knocked down in a mesenchymal stem cell (MSC) line using CRISPR/Cas9 and cells phenotyped by RNA-sequencing.
resultsmQTLs were discovered in fat pad, synovium and blood. Their effects were however stronger in the joint tissues and of comparable effect between these tissues. We observed AEI in synovium in the same direction as for cartilage and correlations between methylation and PLEC expression. Knocking-down plectin impacted on pathways reported to have a role in OA, including Wnt signalling, glycosaminoglycan biosynthesis and immune regulation.
conclusionsSynovium is also a target of the rs11780978 OA association functionally operating on PLEC. In fat pad, mQTLs were identified but these did not correlate with PLEC expression, suggesting the functional effect is not joint-wide. Our study highlights interplay between genetic risk, DNA methylation and gene expression in OA, and reveals clear differences between tissues from the same diseased joint.
Indexed as
Identifiers
What OpenQuestion holds
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.