ArticleHuman molecular genetics2015
Methylation quantitative trait locus analysis of osteoarthritis links epigenetics with genetic risk.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 of them syntheses that pooled it.
What it found
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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
34 citing papers in PubMed, 2 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- Associations between adipokines gene polymorphisms and knee osteoarthritis: a meta-analysis.BMC musculoskeletal disorders · 2022Pooled it
- MeQTL analysis of childhood obesity links epigenetics with a risk SNP rs17782313 near MC4R from meta-analysis.Oncotarget · 2017Pooled it
- Mechanoepigenetics in musculoskeletal disease.Osteoarthritis and cartilage · 2026Review
- DNA methylation and its influence on the pathogenesis of osteoarthritis: a systematic literature review.EFORT open reviews · 2025Article
- Response eQTLs, chromatin accessibility, and 3D chromatin structure in chondrocytes provide mechanistic insight into osteoarthritis risk.Cell genomics · 2025Article
- The methylomic landscape of human articular cartilage development contains epigenetic signatures of osteoarthritis risk.American journal of human genetics · 2024Article
- Epigenomic profiling of the infrapatellar fat pad in osteoarthritis.Human molecular genetics · 2024Article
- Genetic risk of osteoarthritis operates during human skeletogenesis.Human molecular genetics · 2023Article
- Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues.Arthritis research & therapy · 2023Article
- Intergenic Interactions ofLife (Basel, Switzerland) · 2023Article
- The epigenetic players and the chromatin marks involved in the articular cartilage during osteoarthritis.Frontiers in physiology · 2023Review
- 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
- Genetics of osteoarthritis.Osteoarthritis and cartilage · 2022Review
- Epigenetic Regulation of Chondrocytes and Subchondral Bone in Osteoarthritis.Life (Basel, Switzerland) · 2022Review
- An eQTL variant of ALDH1A2 is associated with Kashin-Beck disease in Chinese population.Journal of bone and mineral metabolism · 2022Article
- Epigenetic Regulation in Knee Osteoarthritis.Frontiers in genetics · 2022Review
- Methylation quantitative trait locus analysis of chronic postsurgical pain uncovers epigenetic mediators of genetic risk.Epigenomics · 2021Article
- Runx2 plays a central role in Osteoarthritis development.Journal of orthopaedic translation · 2020Review
- Interplay between genetics and epigenetics in osteoarthritis.Nature reviews. Rheumatology · 2020Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Osteoarthritis (OA) is a common, painful and debilitating disease of articulating joints resulting from the age-associated loss of cartilage. Well-powered genetic studies have identified a number of DNA polymorphisms that are associated with OA susceptibility. Like most complex trait loci, these OA loci are thought to influence disease susceptibility through the regulation of gene expression, so-called expression quantitative loci, or eQTLs. One mechanism through which eQTLs act is epigenetic, by modulating DNA methylation. In such cases, there are quantitative differences in DNA methylation between the two alleles of the causal polymorphism, with the association signal referred to as a methylation quantitative trait locus, or meQTL. In this study, we aimed to investigate whether the OA susceptibility loci identified to date are functioning as meQTLs by integrating genotype data with whole genome methylation data of cartilage DNA. We investigated potential genotype-methylation correlations within a 1.0-1.5 Mb region surrounding each of 16 OA-associated single-nucleotide polymorphisms (SNPs) in 99 cartilage samples and identified four that function as meQTLs. Three of these replicated in an additional cohort of up to 62 OA patients. These observations suggest that OA susceptibility loci regulate the level of DNA methylation in cis and provide a mechanistic explanation as to how these loci impact upon OA susceptibility, further increasing our understanding of the role of genetics and epigenetics in this common disease.
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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.