The DOI matches its Crossref record; 132 of the 132 references it cites were found in a registry or an index.
Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis
Open accessAbstract
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. Genome-wide association study for osteoarthritis using data from UK Biobank identifies loci for knee- and hip-specific disease. Functional analyses of chondrocytes provide further insight into candidate causal genes.
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Cited by
Buniello, A., MacArthur, J. A. L., Cerezo, M., Harris, L. W., Hayhurst, J., Malangone, C., McMahon, A., Morales, J., Mountjoy, E., Sollis, E., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1120 · Cited by 4,000
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Self-citationYoulten, S. E., Kemp, J. P., Logan, J. G., Ghirardello, E. J., Sergio, C. M., Dack, M. R. G., Guilfoyle, S. E., Leitch, V. D., Butterfield, N. C., Komla-Ebri, D., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-22517-1 · Cited by 133
Self-citationFunctional testing of thousands of osteoarthritis-associated variants for regulatory activity
Klein, J. C., Keith, A., Rice, S. J., Shepherd, C., Agarwal, V., Loughlin, J., & Shendure, J. (2019) · Nature Communications · doi:10.1038/s41467-019-10439-y · Cited by 92
Metadata
- Authors
- 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., Uitterlinden, A. G., van Meurs, J. B. J., Thorsteinsdottir, U., Stefansson, K., Davey Smith, G., Wilkinson, J. M., & Zeggini, E.
- Venue
- Nature Genetics
- Published
- 2018-03-20
- Volume
- 50
- Issue
- 4
- Pages
- 549-558
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2793718487
- Cited by
- 319
- References
- 132
- FWCI
- 23.48
- Type
- journal article
- Language
- en
- Open access
- green
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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., Uitterlinden, A. G., van Meurs, J. B. J., Thorsteinsdottir, U., . . . Zeggini, E. (2018). Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis. Nature Genetics. https://doi.org/10.1038/s41588-018-0079-y
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.