ArticleCell2021
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
Erratum issuedOpen access · hybridAbstract read
In one paragraph
Article in Cell, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 224 papers, 12 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
224citing papers in PubMed, 12 pooled it
66.3field-weighted citation impact, top 1% of its field
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
224 citing papers in PubMed, 12 syntheses or guidelines pooled it, 442 citations in OpenAlex.
- Genetic study identifies novel genes in developmental dysplasia of the hip.Bone research · 2026Pooled it
- Using Mendelian randomization analyses in osteoarthritis: state of art and future perspectives.Annals of medicine · 2025Pooled it
- Integrative Genome-wide Association Meta-analysis of Aortic Aneurysm and Dissection Identifies Five Novel Genes.Genomics, proteomics & bioinformatics · 2025Pooled it
- Pooled it
- The genetic architecture of hip shape and its role in the development of hip osteoarthritis and fracture.Human molecular genetics · 2025Pooled it
- A multi-ancestry genetic study of pain intensity in 598,339 veterans.Nature medicine · 2024Pooled it
- Pooled it
- Genome wide association joint analysis reveals 99 risk loci for pain susceptibility and pleiotropic relationships with psychiatric, metabolic, and immunological traits.PLoS genetics · 2023Pooled it
- Pooled it
- A Genome-Wide Association Study Meta-Analysis of Alpha Angle Suggests Cam-Type Morphology May Be a Specific Feature of Hip Osteoarthritis in Older Adults.Arthritis & rheumatology (Hoboken, N.J.) · 2023Pooled it
- Allelic expression imbalance in articular cartilage and subchondral bone refined genome-wide association signals in osteoarthritis.Rheumatology (Oxford, England) · 2023Pooled it
- The causal effect of cytokine cycling levels on osteoarthritis: a bidirectional Mendelian randomized study.Frontiers in immunology · 2023Pooled it
- Genetic interconnections between personality-related phenotypes and psychiatric disorders.European archives of psychiatry and clinical neuroscience · 2026Article
- Evaluating therapeutic efficacy of iopanoic acid in a DMM-induced osteoarthritis mouse model and osteochondral lesioned human explants.Osteoarthritis and cartilage open · 2026Article
- Global Research Trends in Orthobiological Treatments for Osteoarthritis: A Bibliometric Analysis.Healthcare (Basel, Switzerland) · 2026Article
- Novel Musculoskeletal Hypotheses in the Armed Services Trauma and Rehabilitation Outcome (ADVANCE) Cohort: Development and Application of Sparse Group Factor Analysis Methodology.Journal of medical Internet research · 2026Article
- Osteoarthritis: Epidemiology, Diagnosis, and Treatment.MedComm · 2026Review
- Exploring the Shared Genetic Basis of Age at Menopause and Osteoarthritis.ACR open rheumatology · 2026Article
- Loneliness, traditional risk factor control, genetic predisposition, and development of musculoskeletal disorders.Rheumatology (Oxford, England) · 2026Article
- Human hip osteoarthritis-associatedbioRxiv : the preprint server for biology · 2026Article
164 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
66 authors at 20 institutions in 13 countries.
Cindy G BoerDepartment of Internal Medicine, Erasmus MC, Medical Center, 3015CN Rotterdam, the Netherlands.
Konstantinos HatzikotoulasInstitute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
Lorraine SouthamInstitute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
Lilja StefánsdóttirdeCODE Genetics/Amgen Inc., 102 Reykjavik, Iceland.
Yanfei ZhangGenomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA.
Rodrigo Coutinho de AlmeidaDepartment of Biomedical Data Sciences, Section Molecular Epidemiology, Postzone S05-P Leiden University Medical Center, 2333ZC Leiden, the Netherlands.
Tian T WuDepartment of Psychiatry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong, China.
Jie ZhengMRC Integrative Epidemiology Unit (IEU), Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK.
April HartleyMRC Integrative Epidemiology Unit (IEU), Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK; Musculoskeletal Research Unit, Translation Health Sciences, Bristol Medical School, University of Bristol, Southmead Hospital, Bristol BS10 5NB, UK.
Maris Teder-LavingEstonian Genome Center, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia.
Anne Heidi SkogholtK.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, 7491 Trondheim, Norway.
Chikashi TeraoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Kanagawa 230-0045, Japan.
Eleni Zengini4(th) Psychiatric Department, Dromokaiteio Psychiatric Hospital, 12461 Athens, Greece.
George Alexiadis1(st) Department of Orthopaedics, KAT General Hospital, 14561 Athens, Greece.
Andrei BarysenkaInstitute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
Gyda BjornsdottirdeCODE Genetics/Amgen Inc., 102 Reykjavik, Iceland.
Maiken E GabrielsenK.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, 7491 Trondheim, Norway.
Arthur GillyInstitute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
Thorvaldur IngvarssonFaculty of Medicine, University of Iceland, 101 Reykjavik, Iceland; Department of Orthopedic Surgery, Akureyri Hospital, 600 Akureyri, Iceland.
Marianne B JohnsenK.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, 7491 Trondheim, Norway; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, 0316 Oslo, Norway; Research and Communication Unit for Musculoskeletal Health (FORMI), Department of Research, Innovation and Education, Division of Clinical Neuroscience, Oslo University Hospital, 0424 Oslo, Norway.
Helgi JonssonDepartment of Medicine, Landspitali The National University Hospital of Iceland, 108 Reykjavik, Iceland; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.
Margreet KloppenburgDepartments of Rheumatology and Clinical Epidemiology, Leiden University Medical Center, 9600, 23OORC Leiden, the Netherlands.
Almut LuetgeK.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, 7491 Trondheim, Norway.
Sigrun H LunddeCODE Genetics/Amgen Inc., 102 Reykjavik, Iceland.
Reedik MägiEstonian Genome Center, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia.
Massimo ManginoDepartment of Twin Research and Genetic Epidemiology, Kings College London, London SE1 7EH, UK.
Rob R G H H NelissenDepartment of Orthopaedics, Leiden University Medical Center, 9600, 23OORC Leiden, the Netherlands.
Manu ShivakumarDepartment of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Julia SteinbergInstitute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; Daffodil Centre, The University of Sydney, a joint venture with Cancer Council NSW, Sydney, NSW 1340, Australia.
Hiroshi TakuwaLaboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan; Department of Orthopedic Surgery, Shimane University, Shimane 693-8501, Japan.
Laurent F ThomasK.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, 7491 Trondheim, Norway; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, 7491 Trondheim, Norway; BioCore-Bioinformatics Core Facility, Norwegian University of Science and Technology, 7491 Trondheim, Norway; Clinic of Laboratory Medicine, St. Olavs Hospital, Trondheim University Hospital, 7030 Trondheim, Norway.
Margo TuerlingsDepartment of Biomedical Data Sciences, Section Molecular Epidemiology, Postzone S05-P Leiden University Medical Center, 2333ZC Leiden, the Netherlands.
arcOGEN Consortium
HUNT All-In Pain
ARGO Consortium
Regeneron Genetics Center
George C Babis2(nd) Department of Orthopaedics, National and Kapodistrian University of Athens, Medical School, Nea Ionia General Hospital Konstantopouleio, 14233 Athens, Greece.
Jason Pui Yin CheungDepartment of Orthopaedics and Traumatology, The University of Hong Kong, Pokfulam, Hong Kong, China.
Jae Hee KangDepartment of Medicine, Brigham and Women's Hospital, 181 Longwood Ave, Boston, MA 02115, USA.
Peter KraftDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, 677 Huntington Avenue, Boston, MA 02115, USA.
Steven A LietmanMusculoskeletal Institute, Geisinger Health System, Danville, PA 17822, USA.
Dino SamartzisDepartment of Orthopaedics and Traumatology, The University of Hong Kong, Pokfulam, Hong Kong, China; Department of Orthopaedic Surgery, Rush University Medical Center, Chicago, IL 60612, USA.
P Eline SlagboomDepartment of Biomedical Data Sciences, Section Molecular Epidemiology, Postzone S05-P Leiden University Medical Center, 2333ZC Leiden, the Netherlands.
Kari StefanssondeCODE Genetics/Amgen Inc., 102 Reykjavik, Iceland; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.
Unnur ThorsteinsdottirdeCODE Genetics/Amgen Inc., 102 Reykjavik, Iceland; Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.
Jonathan H TobiasMusculoskeletal Research Unit, Translation Health Sciences, Bristol Medical School, University of Bristol, Southmead Hospital, Bristol BS10 5NB, UK; MRC Integrative Epidemiology Unit (IEU), Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK.
André G UitterlindenDepartment of Internal Medicine, Erasmus MC, Medical Center, 3015CN Rotterdam, the Netherlands.
Bendik WinsvoldK.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, 7491 Trondheim, Norway; Department of Research, Innovation and Education, Division of Clinical Neuroscience, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway; Department of Neurology, Oslo University Hospital, 0424 Oslo, Norway.
John-Anker ZwartK.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, 7491 Trondheim, Norway; Department of Research, Innovation and Education, Division of Clinical Neuroscience, Oslo University Hospital and University of Oslo, 0450 Oslo, Norway.
George Davey SmithMRC Integrative Epidemiology Unit (IEU), Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK.
Pak Chung ShamLi Ka Shing Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong, China.
Gudmar ThorleifssondeCODE Genetics/Amgen Inc., 102 Reykjavik, Iceland.
Tom R GauntMRC Integrative Epidemiology Unit (IEU), Bristol Medical School, University of Bristol, Oakfield House, Oakfield Grove, Bristol BS8 2BN, UK.
Andrew P MorrisCentre for Genetics and Genomics Versus Arthritis, Centre for Musculoskeletal Research, University of Manchester, Manchester M13 9LJ, UK.
Ana M ValdesFaculty of Medicine and Health Sciences, School of Medicine, University of Nottingham, Nottingham, Nottinghamshire NG5 1PB, UK.
Aspasia TsezouLaboratory of Cytogenetics and Molecular Genetics, Faculty of Medicine, University of Thessaly, Larissa 411 10, Greece.
Kathryn S E CheahSchool of Biomedical Sciences, The University of Hong Kong, Pokfulam, Hong Kong, China.
Shiro IkegawaLaboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan.
Kristian HveemK.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, 7491 Trondheim, Norway; HUNT Research Center, Department of Public Health and Nursing, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, 7600 Levanger, Norway.
Tõnu EskoEstonian Genome Center, Institute of Genomics, University of Tartu, 51010 Tartu, Estonia.
J Mark WilkinsonDepartment of Oncology and Metabolism and Healthy Lifespan Institute, University of Sheffield, Sheffield S10 2RX, UK.
Ingrid MeulenbeltDepartment of Biomedical Data Sciences, Section Molecular Epidemiology, Postzone S05-P Leiden University Medical Center, 2333ZC Leiden, the Netherlands.
Ming Ta Michael LeeGenomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA; Institute of Biomedical Sciences, Academia Sinica, 115 Taipei, Taiwan.
Joyce B J van MeursDepartment of Internal Medicine, Erasmus MC, Medical Center, 3015CN Rotterdam, the Netherlands.
Unnur StyrkársdóttirdeCODE Genetics/Amgen Inc., 102 Reykjavik, Iceland.
Eleftheria ZegginiInstitute of Translational Genomics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany; TUM School of Medicine, Technical University of Munich and Klinikum Rechts der Isar, 81675 Munich, Germany. Electronic address: eleftheria.zeggini@helmholtz-muenchen.de.
deCODE Genetics (Iceland) · ISLeiden University Medical Center · NLHelmholtz Zentrum München · DEOslo University Hospital · NOUniversity of Bristol · GBUniversity of Hong Kong · HKErasmus MC · NLInstitute of Biomedical Sciences, Academia Sinica · TWNorwegian University of Science and Technology · NOGeisinger Health System · USUniversity of Manchester · GBUniversity of Tartu · EEUniversity of Nottingham · GBBrigham and Women's Hospital · USHarvard University · USKAT General Hospital of Attica · GRRIKEN Center for Integrative Medical Sciences · JPSouthmead Hospital · GBUniversity of Iceland · ISUniversity of Sheffield · GB
Funding
Medical Research Council MC_UU_00011/1Medical Research Council MC_UU_00011/1&4Medical Research Council MC_UU_00011/4Medical Research Council MR/K017047/1Medical Research Council MR/R015635/1
Abstract
Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and identify 100 independently associated risk variants across 11 osteoarthritis phenotypes, 52 of which have not been associated with the disease before. We report thumb and spine osteoarthritis risk variants and identify differences in genetic effects between weight-bearing and non-weight-bearing joints. We identify sex-specific and early age-at-onset osteoarthritis risk loci. We integrate functional genomics data from primary patient tissues (including articular cartilage, subchondral bone, and osteophytic cartilage) and identify high-confidence effector genes. We provide evidence for genetic correlation with phenotypes related to pain, the main disease symptom, and identify likely causal genes linked to neuronal processes. Our results provide insights into key molecular players in disease processes and highlight attractive drug targets to accelerate translation.
Indexed as
Genetic Predisposition to DiseaseGenetics, PopulationFemaleGenome-Wide Association StudyHumansOsteoarthritisPhenotypePolymorphism, Single NucleotideRisk FactorsSex CharacteristicsSignal Transductiondrug targetseffector genesfunctional genomicsgenetic architecturegenome-wide association meta-analysisosteoarthritis
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
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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 Socratic graph.