ArticleNature genetics2017
Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.
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Article in Nature genetics, 2017. 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 50 papers, 5 of them syntheses that pooled it.
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50citing papers in PubMed, 5 pooled it
11.7field-weighted citation impact, top 1% of its field
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50 citing papers in PubMed, 5 syntheses or guidelines pooled it, 94 citations in OpenAlex.
- Prevalence and risk factors of postmenopausal osteoporosis: a systematic review and meta-analysis based on multivariate logistic regression.Frontiers in endocrinology · 2026Pooled it
- Associations between adipokines gene polymorphisms and knee osteoarthritis: a meta-analysis.BMC musculoskeletal disorders · 2022Pooled it
- Genetic variants associated with platelet count are predictive of human disease and physiological markers.Communications biology · 2021Pooled it
- Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.Nature genetics · 2018Pooled it
- Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.Nature genetics · 2018Pooled it
- Human hip osteoarthritis-associatedbioRxiv : the preprint server for biology · 2026Article
- Contribution of rare variation to degenerative orthopedic diseases.Osteoarthritis and cartilage open · 2026Article
- PIEZO1 variants that reduce open channel probability are associated with familial osteoarthritis.The Journal of biological chemistry · 2026Article
- Relationship between RAR and the risk of osteoarthritis: a comprehensive analysis based on NHANES data (1999-2018).Journal of orthopaedics · 2025Article
- Osteoarthritis as an evolutionary legacy: Biological ageing and chondrocyte hypertrophy.Osteoarthritis and cartilage open · 2025Review
- Cleavage of Cartilage Oligomeric Matrix Protein (COMP) by ADAMTS4 generates a neoepitope associated with osteoarthritis and other forms of degenerative joint disease.Matrix biology : journal of the International Society for Matrix Biology · 2025Article
- Exploring the therapeutic effect of human recombinant IL11 on lesioned OA human osteochondral explants.Arthritis research & therapy · 2025Article
- Therapeutic Controlled Release Strategies for Human Osteoarthritis.Advanced healthcare materials · 2025Review
- The Genetic Markers of Knee Osteoarthritis in Women from Russia.Biomedicines · 2024Article
- Elevated secretion of pro-collagen I-alpha and vascular endothelial growth factor as biomarkers of acetabular labrum degeneration and calcification in hip osteoarthritis: An explant study.Journal of orthopaedic translation · 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
- Article
- Tetra-primers ARMS-PCR Based Association Analyses of Synonymous and Intronic Variants in the ADAM12 Gene with Susceptibility to Knee Osteoarthritis: A Case-Control Study.Biochemical 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
Corrections and comments
- Erratum issued
Authors and funding
49 authors at 15 institutions in 11 countries.
Unnur StyrkarsdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-8146-8278
Hannes HelgasondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Asgeir SigurdssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Gudmundur L NorddahldeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Arna B AgustsdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Louise N ReynardInstitute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK.
Amanda VillalvillaInstitute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK.
Gisli H HalldorssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Aslaug JonasdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Audur MagnusdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Asmundur OddsondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-4606-5163
Gerald SulemdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Florian ZinkdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Gardar SveinbjornssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Agnar HelgasondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Hrefna S JohannsdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Anna HelgadottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Hreinn StefanssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Solveig GretarsdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Thorunn RafnardeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Ina S AlmdahlDepartment of Neurology, Akershus University Hospital, Lørenskog, Norway.
Anne BrækhusNorwegian National Advisory Unit on Ageing and Health, Vestfold Hospital Trust, Tønsberg, Norway.
Tormod FladbyDepartment of Neurology, Akershus University Hospital, Lørenskog, Norway.
Geir SelbækNorwegian National Advisory Unit on Ageing and Health, Vestfold Hospital Trust, Tønsberg, Norway.
Farhad HosseinpanahObesity Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Fereidoun AziziEndocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Jung Min KohDivision of Endocrinology and Metabolism, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
Nelson L S TangDepartment of Chemical Pathology and Laboratory for Genetics of Disease Susceptibility, Li Ka Shing Institute of Health Sciences, and School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China.ORCID http://orcid.org/0000-0002-3607-5819
Maryam S DaneshpourCellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Jose I MayordomoDivision of Medical Oncology, Lozano Blesa University Hospital, Zaragoza, Spain.
Corrine WeltDivision of Endocrinology, Metabolism and Diabetes, University of Utah, Salt Lake City, Utah, USA.
Peter S BraundDepartment of Cardiovascular Sciences, University of Leicester, Leicester, UK.
Nilesh J SamaniDepartment of Cardiovascular Sciences, University of Leicester, Leicester, UK.
Lambertus A KiemeneyRadboud University Medical Center, Radboud Institute for Health Science, Nijmegen, the Netherlands.
L Stefan LohmanderOrthopaedics, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.ORCID http://orcid.org/0000-0002-5424-9448
Claus ChristiansenNordic Bioscience, Herlev, Denmark.
Ole A AndreassenNORMENT, KG Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, Oslo University Hospital and Institute of Clinical Medicine, University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0002-4461-3568
arcOGEN consortium
Olafur MagnussondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Gisli MassondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Augustine KongdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Ingileif JonsdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-8339-150X
Daniel GudbjartssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-5222-9857
Patrick SulemdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-7123-6123
Helgi JonssonFaculty of Medicine, University of Iceland, Reykjavik, Iceland.
John LoughlinInstitute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK.
Thorvaldur IngvarssonFaculty of Medicine, University of Iceland, Reykjavik, Iceland.
Unnur ThorsteinsdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Kari StefanssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
deCODE Genetics (Iceland) · ISNewcastle University · GBResearch Institute for Endocrine Sciences · IROslo University Hospital · NOUniversity of Iceland · ISUniversity of Leicester · GBUniversity of Oslo · NOAkershus University Hospital · NOChinese University of Hong Kong · HKHospital Clínico Universitario Lozano Blesa · ESLund University · SENordic Bioscience (Denmark) · DKRadboud University Nijmegen · NLUlsan College · KRUniversity of Utah · US
Funding
Medical Research Council G0100594Medical Research Council G0600237Medical Research Council G0900753Medical Research Council G0901461Medical Research Council MR/K002279/1Medical Research Council MR/K006312/1Versus Arthritis 20679Versus Arthritis 20771
Abstract
We performed a genome-wide association study of total hip replacements, based on variants identified through whole-genome sequencing, which included 4,657 Icelandic patients and 207,514 population controls. We discovered two rare signals that strongly associate with osteoarthritis total hip replacement: a missense variant, c.1141G>C (p.Asp369His), in the COMP gene (allelic frequency = 0.026%, P = 4.0 × 10
Indexed as
Arthroplasty, Replacement, HipCartilage Oligomeric Matrix ProteinCells, CulturedCodon, NonsenseExtracellular Matrix ProteinsFrameshift MutationGene ExpressionGene FrequencyGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyGenotypeHumansIcelandKaplan-Meier EstimateMutation, MissenseCartilage Oligomeric Matrix ProteinCHADL protein, humanCodon, NonsenseExtracellular Matrix ProteinsTSP5 protein, human
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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 OpenQuestion graph.