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Zengini, E.* ; Hatzikotoulas, K.* ; Tachmazidou, I.* ; Steinberg, J.* ; Hartwig, F.P.* ; Southam, L.* ; Hackinger, S.* ; Boer, C.G.* ; Styrkarsdottir, U.* ; Gilly, A.* ; Suveges, D.* ; Killian, B.* ; Ingvarsson, T.* ; Jonsson, H.* ; Babis, G.C.* ; McCaskie, A.W.* ; Uitterlinden, A.G.* ; van Meurs, J.B.J.* ; Thorsteinsdottir, U.* ; Stefansson, K.* ; Davey Smith, G.* ; Wilkinson, J.M.* ; Zeggini, E.

Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.

Nat. Genet. 50, 549-558 (2018)
Verlagsversion DOI
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Osteoarthritis is a common complex disease imposing a large public-health burden. Here, we performed a genome-wide association study for osteoarthritis, using data across 16.5 million variants from the UK Biobank resource. After performing replication and meta-analysis in up to 30,727 cases and 297,191 controls, we identified nine new osteoarthritis loci, in all of which the most likely causal variant was noncoding. For three loci, we detected association with biologically relevant radiographic endophenotypes, and in five signals we identified genes that were differentially expressed in degraded compared with intact articular cartilage from patients with osteoarthritis. We established causal effects on osteoarthritis for higher body mass index but not for triglyceride levels or genetic predisposition to type 2 diabetes.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Zeitschrift Nature Genetics
Quellenangaben Band: 50, Heft: 4, Seiten: 549-558 Artikelnummer: , Supplement: ,
Verlag Nature Publishing Group
Verlagsort New York, NY
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Translational Genomics (ITG)