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The aim of this work is to apply an integrated systems approach to understand the biological underpinnings of knee osteoarthritis that culminates in the need for total joint replacement (TJR). This study is a feasibility pilot that integrates functional genomics data from diseased and non-diseased tissues of OA patients who have undergone TJR. For each tissue, we characterised epigenetic marks (methylation), gene transcription (RNASeq) and expression (quantitative proteomics). We also generated genotype data on the HumanCoreExome array for each individual.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001003355 Illumina HiSeq 2500 72
EGAD00010001285 Illumina InfiniumCoreExome-24v1-1_A 17
EGAD00010001287 Illumina HumanMethylation450K 68
Publications Citations
Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis.
Nat Genet 50: 2018 549-558
Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.
Nat Genet 51: 2019 230-236
Accelerating functional gene discovery in osteoarthritis.
Nat Commun 12: 2021 467
A molecular quantitative trait locus map for osteoarthritis.
Nat Commun 12: 2021 1309
Linking chondrocyte and synovial transcriptional profile to clinical phenotype in osteoarthritis.
Ann Rheum Dis 80: 2021 1070-1074
A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis.
Hum Mol Genet 31: 2022 2090-2105