Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations
dc.date.accessioned | 2021-10-22T15:46:11Z | |
dc.date.available | 2021-10-22T15:46:11Z | |
dc.date.created | 2021-10-04T13:34:02Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | Boer, Cindy G. Hatzikotoulas, Konstantinos Southam, Lorraine Stefánsdóttir, Lilja Almeida, Rodrigo Coutinho de Zhang, Yanfei Wu, Tian T. Zheng, Jie Hartley, April Teder-Laving, Maris Skogholt, Anne Heidi Terao, Chikashi Zengini, Eleni Alexiadis, George Barysenka, Andrei Bjornsdottir, Gyda Gabrielsen, Maiken Elvestad Gilly, Arthur Ingvarsson, Thorvaldur Johnsen, Marianne Bakke Jonsson, Helgi Kloppenburg, Margreet Luetge, Almut Lund, Sigrun H Magi, Reedik Mangino, Massimo Nelissen, Rob G.H.H. Shivakumar, Manu Steinberg, Julia Takuwa, Hiroshi Thomas, Laurent Tuerlings, Margo Babis, George C. Cheung, Jason Pui Yin Kang, Jae Hee Kraft, Peter Lietman, Steven A. Samartzis, Dino Slagboom, P. Eline Stefansson, Kari Thorsteinsdottir, Unnur Tobias, Jonathan H. Uitterlinden, André G. Winsvold, Bendik K S Zwart, John Anker Henrik Smith, George Davey Sham, Pak Chung Thorleifsson, Gudmar Hveem, Kristian Zeggini, Eleftheria . Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations. Cell. 2021, 184, 4784-4818 | |
dc.identifier.uri | http://hdl.handle.net/10852/89014 | |
dc.description.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. | |
dc.language | EN | |
dc.publisher | Cell Press | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | |
dc.title | Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations | |
dc.type | Journal article | |
dc.creator.author | Boer, Cindy G. | |
dc.creator.author | Hatzikotoulas, Konstantinos | |
dc.creator.author | Southam, Lorraine | |
dc.creator.author | Stefánsdóttir, Lilja | |
dc.creator.author | Almeida, Rodrigo Coutinho de | |
dc.creator.author | Zhang, Yanfei | |
dc.creator.author | Wu, Tian T. | |
dc.creator.author | Zheng, Jie | |
dc.creator.author | Hartley, April | |
dc.creator.author | Teder-Laving, Maris | |
dc.creator.author | Skogholt, Anne Heidi | |
dc.creator.author | Terao, Chikashi | |
dc.creator.author | Zengini, Eleni | |
dc.creator.author | Alexiadis, George | |
dc.creator.author | Barysenka, Andrei | |
dc.creator.author | Bjornsdottir, Gyda | |
dc.creator.author | Gabrielsen, Maiken Elvestad | |
dc.creator.author | Gilly, Arthur | |
dc.creator.author | Ingvarsson, Thorvaldur | |
dc.creator.author | Johnsen, Marianne Bakke | |
dc.creator.author | Jonsson, Helgi | |
dc.creator.author | Kloppenburg, Margreet | |
dc.creator.author | Luetge, Almut | |
dc.creator.author | Lund, Sigrun H | |
dc.creator.author | Magi, Reedik | |
dc.creator.author | Mangino, Massimo | |
dc.creator.author | Nelissen, Rob G.H.H. | |
dc.creator.author | Shivakumar, Manu | |
dc.creator.author | Steinberg, Julia | |
dc.creator.author | Takuwa, Hiroshi | |
dc.creator.author | Thomas, Laurent | |
dc.creator.author | Tuerlings, Margo | |
dc.creator.author | Babis, George C. | |
dc.creator.author | Cheung, Jason Pui Yin | |
dc.creator.author | Kang, Jae Hee | |
dc.creator.author | Kraft, Peter | |
dc.creator.author | Lietman, Steven A. | |
dc.creator.author | Samartzis, Dino | |
dc.creator.author | Slagboom, P. Eline | |
dc.creator.author | Stefansson, Kari | |
dc.creator.author | Thorsteinsdottir, Unnur | |
dc.creator.author | Tobias, Jonathan H. | |
dc.creator.author | Uitterlinden, André G. | |
dc.creator.author | Winsvold, Bendik K S | |
dc.creator.author | Zwart, John Anker Henrik | |
dc.creator.author | Smith, George Davey | |
dc.creator.author | Sham, Pak Chung | |
dc.creator.author | Thorleifsson, Gudmar | |
dc.creator.author | Hveem, Kristian | |
dc.creator.author | Zeggini, Eleftheria | |
cristin.unitcode | 185,53,42,0 | |
cristin.unitname | Nevroklinikken | |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 2 | |
dc.identifier.cristin | 1943065 | |
dc.identifier.bibliographiccitation | info:ofi/fmt:kev:mtx:ctx&ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Cell&rft.volume=184&rft.spage=4784&rft.date=2021 | |
dc.identifier.jtitle | Cell | |
dc.identifier.volume | 184 | |
dc.identifier.issue | 18 | |
dc.identifier.startpage | 4784 | |
dc.identifier.endpage | 4818.e17 | |
dc.identifier.doi | https://doi.org/10.1016/j.cell.2021.07.038 | |
dc.identifier.urn | URN:NBN:no-91629 | |
dc.type.document | Tidsskriftartikkel | |
dc.type.peerreviewed | Peer reviewed | |
dc.source.issn | 0092-8674 | |
dc.identifier.fulltext | Fulltext https://www.duo.uio.no/bitstream/handle/10852/89014/2/Deciphering%2Bosteoarthritis%2Bgenetics%2Bacross%2B826%252C690.pdf | |
dc.type.version | PublishedVersion | |
dc.relation.project | SKGJ/SKGJ-MED-015 | |
dc.relation.project | NFR/248817 |
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