ArticlePLoS genetics2016
Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis.
Article in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 4 of them syntheses that pooled it.
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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.
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Who cites it
52 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Pooled it
- Associations between adipokines gene polymorphisms and knee osteoarthritis: a meta-analysis.BMC musculoskeletal disorders · 2022Pooled it
- Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.Journal of medical genetics · 2018Pooled it
- Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.Nature genetics · 2018Pooled it
- Methylation Landscapes of Cartilage in Hip Osteoarthritis.Genetics research · 2026Article
- Advances in the pathology and treatment of osteoarthritis.Journal of advanced research · 2025Review
- Deciphering the shared genetic structure between hip osteoarthritis and femoral neck bone mineral density.Frontiers in genetics · 2025Article
- Regulation of Skeletal Development and Maintenance by Runx2 and Sp7.International journal of molecular sciences · 2024Review
- Genomic Determinants of Knee Joint Biomechanics: An Exploration into the Molecular Basis of Locomotor Function, a Narrative Review.Current issues in molecular biology · 2024Review
- Genomic prediction and genome-wide association studies of morphological traits and distraction index in Korean Sapsaree dogs.PloS one · 2024Article
- Epigenetics as a mediator of genetic risk in osteoarthritis: role during development, homeostasis, aging, and disease progression.American journal of physiology. Cell physiology · 2023Review
- Analysis of RNA Polyadenylation in Healthy and Osteoarthritic Human Articular Cartilage.International journal of molecular sciences · 2023Article
- Activating EGFR Signaling Attenuates Osteoarthritis Development Following Loading Injury in Mice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association Study.Journal of clinical medicine · 2022Article
- Article
- Machine Learning-Derived Acetabular Dysplasia and Cam Morphology Are Features of Severe Hip Osteoarthritis: Findings From UK Biobank.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Osteoarthritis Pathophysiology: Therapeutic Target Discovery may Require a Multifaceted Approach.Clinics in geriatric medicine · 2022Review
- Genetics of osteoarthritis.Osteoarthritis and cartilage · 2022Review
- EGFR Signaling Is Required for Maintaining Adult Cartilage Homeostasis and Attenuating Osteoarthritis Progression.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- A humanOsteoarthritis and cartilage open · 2022Article
Corrections and comments
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Authors and funding
37 authors.
Funding
Abstract
Osteoarthritis is one of the most frequent and disabling diseases of the elderly. Only few genetic variants have been identified for osteoarthritis, which is partly due to large phenotype heterogeneity. To reduce heterogeneity, we here examined cartilage thickness, one of the structural components of joint health. We conducted a genome-wide association study of minimal joint space width (mJSW), a proxy for cartilage thickness, in a discovery set of 13,013 participants from five different cohorts and replication in 8,227 individuals from seven independent cohorts. We identified five genome-wide significant (GWS, P≤5·0×10-8) SNPs annotated to four distinct loci. In addition, we found two additional loci that were significantly replicated, but results of combined meta-analysis fell just below the genome wide significance threshold. The four novel associated genetic loci were located in/near TGFA (rs2862851), PIK3R1 (rs10471753), SLBP/FGFR3 (rs2236995), and TREH/DDX6 (rs496547), while the other two (DOT1L and SUPT3H/RUNX2) were previously identified. A systematic prioritization for underlying causal genes was performed using diverse lines of evidence. Exome sequencing data (n = 2,050 individuals) indicated that there were no rare exonic variants that could explain the identified associations. In addition, TGFA, FGFR3 and PIK3R1 were differentially expressed in OA cartilage lesions versus non-lesioned cartilage in the same individuals. In conclusion, we identified four novel loci (TGFA, PIK3R1, FGFR3 and TREH) and confirmed two loci known to be associated with cartilage thickness.The identified associations were not caused by rare exonic variants. This is the first report linking TGFA to human OA, which may serve as a new target for future therapies.
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