{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hatzikotoulas K"],"funding":["NCCDPHP CDC HHS","RRD VA","NIAMS NIH HHS"],"pagination":["1217-1224"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12119359"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["641(8065)"],"pubmed_abstract":["Osteoarthritis is the third most rapidly growing health condition associated with disability, after dementia and diabetes<sup>1</sup>. By 2050, the total number of patients with osteoarthritis is estimated to reach 1 billion worldwide<sup>2</sup>. As no disease-modifying treatments exist for osteoarthritis, a better understanding of disease aetiopathology is urgently needed. Here we perform a genome-wide association study meta-analyses across up to 489,975 cases and 1,472,094 controls, establishing 962 independent associations, 513 of which have not been previously reported. Using single-cell multiomics data, we identify signal enrichment in embryonic skeletal development pathways. We integrate orthogonal lines of evidence, including transcriptome, proteome and epigenome profiles of primar"],"journal":["Nature"],"pubmed_title":["Translational genomics of osteoarthritis in 1,962,069 individuals."],"pmcid":["PMC12119359"],"funding_grant_id":["U01 DP006266","I01 RX002745","P30 AR072580"],"pubmed_authors":["Lee MTM","Gabrielsen M","Katsoula G","Kardia SLR","Lemmela S","Sugimoto S","Daly M","Martin NG","Uitterlinden AG","Lupton MK","Tragante V","Rosendaal FR","Nagami F","Terao C","Palotie A","FinnGen","Park YC","Brunak S","ARGO Consortium","Pett JP","Cheung JTS","Genes & Health Research Team","Baras A","Uchio Y","Winsvold B","Faquih T","Tomizuka K","Barysenka A","Tenghe AMM","Mook-Kanamori DO","Wu TT","Singh JA","Tiwari HK","Fei L","Hayward C","To K","Weir DR","Cheung JP","Huckins LM","Eaton CB","Ullum H","Tuerlings M","McCartney D","Yau MS","Gilly A","Horn S","van Heel DA","Zeggini E","Lin K","Babis G","Erikstrup C","Schmidt CO","Carey DJ","Hoijer J","Minn AKK","Millwood IY","Zhao W","Michaelsson K","Loef M","van Meurs JBJ","Shivakumar M","Thomas L","Samartzis D","Henkel C","Lotta L","Johnson JS","Kloppenburg M","Arruda AL","Smith JA","Troelsen A","Banasik K","Roberts MB","Alexiadis G","Southam L","Cheah KSE","Karjalainen J","Hatzikotoulas K","Nabika T","DBDS Genomic Consortium","Gromov K","Funayama T","Ostrowski SR","Wilkinson JM","Regeneron Genetics Center","Lietman SA","Faul JD","Meulenbelt I","de Pins AM","Ishijima M","Kang JH","Nelson AE","Pedersen OB","Richman J","Turman C","Mitchell BD","Fenstad AM","Zwart JA","Golightly YM","Silberstein MD","Thorleifsson G","Stefansson K","Tamiya G","Yue M","Dochtermann D","Ito S","Lukusa-Sawalena B","Jonsson H","Tsezou A","Hveem K","Kreitmaier P","Sorensen E","Medland SE","Million Veteran Program","Chen Z","Chen LG","Zhou JJ","Hailer NP","Furnes ON","Chen S","Barker T","arcOGEN Consortium","Yamamoto M","Mola-Caminal M","Magi R","Walters RG","Gocho C","Li L","Song YQ","Jones M","de Mutsert R","Ikegawa S","Kumahashi N","Hudjashov G","Sham PC","Ingvarsson T","Kraft P","Hochberg MC","Bittner N","Arbeeva L","Lerner R","Lee PH","Teder-Laving M","Narita A","Suzuki K","Gabrielsen ME","Isomura M","Kakehi S","Liu X","Mulders R","Reimann E","Zengini E","Estonian Biobank Research Team","Styrkarsdottir U","Tamura Y","Mangino M","Winsvold BS","Smelser DT","Weiss S","Lind PA","McDonald ML","Ryan KA","Morris AP","Boer CG","Valdes AM","Homuth G","Kasbohm E","Srinivasasainagendra V","Skou ST","Dowsett J","Sakurai-Yageta M","Hansen T","Nguyen C","Takuwa H","HUNT All-In Pain","McAlindon TE","Zhang Y","Campbell A","Rocco A","Gudbjartsson DF","Kuwata S","Stefansdottir L","Skogholt AH","Teichmann SA","Ferreira MAR"],"additional_accession":[]},"is_claimable":false,"name":"Translational genomics of osteoarthritis in 1,962,069 individuals.","description":"Osteoarthritis is the third most rapidly growing health condition associated with disability, after dementia and diabetes<sup>1</sup>. By 2050, the total number of patients with osteoarthritis is estimated to reach 1 billion worldwide<sup>2</sup>. As no disease-modifying treatments exist for osteoarthritis, a better understanding of disease aetiopathology is urgently needed. Here we perform a genome-wide association study meta-analyses across up to 489,975 cases and 1,472,094 controls, establishing 962 independent associations, 513 of which have not been previously reported. Using single-cell multiomics data, we identify signal enrichment in embryonic skeletal development pathways. We integrate orthogonal lines of evidence, including transcriptome, proteome and epigenome profiles of primar","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 May","modification":"2026-06-03T07:40:51.315Z","creation":"2026-04-26T03:09:49.032Z"},"accession":"S-EPMC12119359","cross_references":{"pubmed":["40205036"],"doi":["10.1038/s41586-025-08771-z"]}}