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Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

dc.creatorBoer C.G., Hatzikotoulas K., Southam L., Stefánsdóttir L., Zhang Y., Coutinho de Almeida R., Wu T.T., Zheng J., Hartley A., Teder-Laving M., Skogholt A.H., Terao C., Zengini E., Alexiadis G., Barysenka A., Bjornsdottir G., Gabrielsen M.E., Gilly A., Ingvarsson T., Johnsen M.B., Jonsson H., Kloppenburg M., Luetge A., Lund S.H., Mägi R., Mangino M., Nelissen R.R.G.H.H., Shivakumar M., Steinberg J., Takuwa H., Thomas L.F., Tuerlings M., Loughlin J., Arden N., Birrell F., Carr A., Deloukas P., Doherty M., McCaskie A.W., Ollier W.E.R., Rai A., Ralston S.H., Spector T.D., Wallis G.A., Martinsen A.E., Willer C., Fors E.A., Mundal I., Hagen K., Nilsen K.B., Lie M.U., Børte S., Brumpton B., Nielsen J.B., Fritsche L.G., Zhou W., Heuch I., Storheim K., Tyrpenou E., Koukakis A., Chytas D., Evangelopoulos D.S., Efstathios C., Pneumaticos S., Nikolaou V.S., Malizos K., Anastasopoulou L., Abecasis G., Baras A., Cantor M., Coppola G., Deubler A., Economides A., Lotta L.A., Overton J.D., Reid J.G., Shuldiner A., Karalis K., Siminovitch K., Beechert C., Forsythe C., Fuller E.D., Gu Z., Lattari M., Lopez A., Schleicher T.D., Padilla M.S., Widom L., Wolf S.E., Pradhan M., Manoochehri K., Bai X., Balasubramanian S., Boutkov B., Eom G., Habegger L., Hawes A., Krasheninina O., Lanche R., Mansfield A.J., Maxwell E.K., Nafde M., O'Keeffe S., Orelus M., Panea R., Polanco T., Rasool A., Salerno W., Staples J.C., Li D., Sharma D., Banerjee I., Bovijn J., Locke A., Verweij N., Haas M., Hindy G., De T., Akbari P., Sosina O., Ferreira M.A.R., Jones M.B., Mighty J., LeBlanc M.G., Mitnaul L.J., Babis G.C., Cheung J.P.Y., Kang J.H., Kraft P., Lietman S.A., Samartzis D., Slagboom P.E., Stefansson K., Thorsteinsdottir U., Tobias J.H., Uitterlinden A.G., Winsvold B., Zwart J.-A., Davey Smith G., Sham P.C., Thorleifsson G., Gaunt T.R., Morris A.P., Valdes A.M., Tsezou A., Cheah K.S.E., Ikegawa S., Hveem K., Esko T., Wilkinson J.M., Meulenbelt I., Lee M.T.M., van Meurs J.B.J., Styrkársdóttir U., Zeggini E., arcOGEN Consortium, HUNT All-In Pain, ARGO Consortium, Regeneron Genetics Centeren
dc.date.accessioned2023-01-31T07:38:38Z
dc.date.available2023-01-31T07:38:38Z
dc.date.issued2021
dc.identifier10.1016/j.cell.2021.07.038
dc.identifier.issn00928674
dc.identifier.urihttp://hdl.handle.net/11615/71733
dc.description.abstractOsteoarthritis 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. © 2021 The Authorsen
dc.language.isoenen
dc.sourceCellen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85114044916&doi=10.1016%2fj.cell.2021.07.038&partnerID=40&md5=958bb69a64c7c97b8d68ca77740ad43c
dc.subjectarthralgiaen
dc.subjectArticleen
dc.subjectarticular cartilageen
dc.subjectfunctional genomicsen
dc.subjectgene expressionen
dc.subjectgene identificationen
dc.subjectgene locusen
dc.subjectgenetic associationen
dc.subjectgenetic correlationen
dc.subjectgenetic linkageen
dc.subjectgenetic risken
dc.subjectgenetic variabilityen
dc.subjectgeneticsen
dc.subjectgenome-wide association studyen
dc.subjecthumanen
dc.subjectmeta analysisen
dc.subjectnonhumanen
dc.subjectonset ageen
dc.subjectosteoarthritisen
dc.subjectosteophyteen
dc.subjectpathogenesisen
dc.subjectphenotypeen
dc.subjectspondylosisen
dc.subjectstudy designen
dc.subjectsubchondral boneen
dc.subjectweight bearingen
dc.subjectfemaleen
dc.subjectgenetic predispositionen
dc.subjectosteoarthritisen
dc.subjectpopulation geneticsen
dc.subjectrisk factoren
dc.subjectsexual characteristicsen
dc.subjectsignal transductionen
dc.subjectsingle nucleotide polymorphismen
dc.subjectFemaleen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectGenetics, Populationen
dc.subjectGenome-Wide Association Studyen
dc.subjectHumansen
dc.subjectOsteoarthritisen
dc.subjectPhenotypeen
dc.subjectPolymorphism, Single Nucleotideen
dc.subjectRisk Factorsen
dc.subjectSex Characteristicsen
dc.subjectSignal Transductionen
dc.subjectElsevier B.V.en
dc.titleDeciphering osteoarthritis genetics across 826,690 individuals from 9 populationsen
dc.typejournalArticleen


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