| Title: | Genetics of osteoarthritis |
| Lead Institution: | Helmholtz Zentrum Munchen |
| Principal investigator: | Professor Eleftheria Zeggini |
Application 9979
WARNING: the interactive features of this website use CSS3, which your browser does not support. To use the full features of this website, please update your browser.
About
We are requesting access to the full UK Biobank genotype data along with phenotype data on osteoarthritis and related traits. We will carry out a nested case-control study for OA and will additionally investigate genetic overlap between OA and related traits, whilst adjusting for appropriate covariates. The proposed work fits in with the aims of UK Biobank, as it seeks to identify associations between sequence variants and a disease of medical relevance. It leverages the large sample size of the UK Biobank cohort for an OA GWAS of unprecedented scale. We will carry out a nested case-control study for OA and will additionally investigate genetic overlap between OA and related traits, whilst adjusting for appropriate covariates. These include age, sex, anthropometric measurements, blood biochemistry, as well as other demographic and lifestyle data including region of origin, occupational activity, HRT information and smoking habits. We would also like to request data on OA severity (Kellgren-Lawrence score, if available), age at OA diagnosis, and information on total joint replacement surgery including joint site, and age at surgery. The focus of our work is on complex trait genetics. We design and carry out large-scale genetic association studies and aim to identify genetic loci associated with osteoarthritis. The data will be used in genotype-phenotype association studies and will contribute to genome-wide discovery efforts, as well as to replication efforts for already-identified promising signals in independent samples. Our team is positioned among global leaders in OA genetics. Full cohort, divided into case-control by OA status6 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 7442 | A molecular quantitative trait locus map for osteoarthritis | Julia Steinberg (+14) | 2021 | Nature Communications |
| 10223 | Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations | Cindy G. Boer (+158) | 2021 | Cell |
| 7333 | Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis | Eleni Zengini (+22) | 2018 | Nature Genetics |
| 8535 | Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5 | Konstantinos Hatzikotoulas (+15) | 2018 | Communications Biology |
| 8686 | Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data | Ioanna Tachmazidou (+20) | 2019 | Nature Genetics |
| 7280 | Widespread epigenomic, transcriptomic and proteomic differences between hip osteophytic and articular chondrocytes in osteoarthritis | Julia Steinberg (+10) | 2018 | Rheumatology |
Enabling scientific discoveries that improve human health