Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.
Babis, George C
Uitterlinden, Andre G
van Meurs, Joyce BJ
Davey Smith, George
Springer Science and Business Media LLC
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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
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.
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
Medical Research Council (MC_PC_12009)
External DOI: https://doi.org/10.1038/s41588-018-0079-y
This record's URL: https://www.repository.cam.ac.uk/handle/1810/275545