Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.
View / Open Files
Authors
Zengini, Eleni
Tachmazidou, Ioanna
Steinberg, Julia
Hackinger, Sophie
Gilly, Arthur
Suveges, Daniel
Killian, Britt
Ingvarsson, Thorvaldur
Jonsson, Helgi
Babis, George C
Uitterlinden, Andre G
van Meurs, Joyce BJ
Thorsteinsdottir, Unnur
Stefansson, Kari
Davey Smith, George
Publication Date
2018-04Journal Title
Nat Genet
ISSN
1061-4036
Publisher
Springer Science and Business Media LLC
Volume
50
Issue
4
Pages
549-558
Language
eng
Type
Article
This Version
AM
Physical Medium
Print-Electronic
Metadata
Show full item recordCitation
Zengini, E., Hatzikotoulas, K., Tachmazidou, I., Steinberg, J., Hartwig, F. P., Southam, L., Hackinger, S., et al. (2018). Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.. Nat Genet, 50 (4), 549-558. https://doi.org/10.1038/s41588-018-0079-y
Abstract
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.
Keywords
Humans, Osteoarthritis, Genetic Predisposition to Disease, RNA, Untranslated, Chromosome Mapping, Biological Specimen Banks, Female, Male, Genetic Variation, Genome-Wide Association Study, Genetic Loci, United Kingdom
Sponsorship
Medical Research Council (MC_PC_12009)
Identifiers
External DOI: https://doi.org/10.1038/s41588-018-0079-y
This record's URL: https://www.repository.cam.ac.uk/handle/1810/275545
Rights
Licence:
http://www.rioxx.net/licenses/all-rights-reserved
Statistics
Total file downloads (since January 2020). For more information on metrics see the
IRUS guide.