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Genotype data of osteoarthritis cases from the UK collected by the arcOGEN Consortium (

The arcOGEN study is a UK-wide collaboration effort by the Arthritis Research UK Osteoarthritis Genetics (arcOGEN) Consortium ( aimed at the identification of the genetic determinants of osteoarthritis (OA). Unrelated samples were collected in 2 stages from 10 United Kingdom locations (London, Nottingham, Oxford, Sheffield, Southampton, Edinburgh, Newcastle-Upon-Tyne, Sheffield, Wansbeck, and Worcester). The majority of cases had primary OA requiring joint replacement of the hip or knee while a smaller number were ascertained by radiographic evidence of disease (Kellgren-Lawrence (KL) grade ≥2). The exclusion criteria included the need for joint replacement due to fracture, secondary OA of any cause, and developmental, vascular, or infective causes of joint disease. The full genotype data generated from the arcOGEN genome-wide association scan (GWAS) is contained in separate datasets because of differences in patient consent between the different collection sites.

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
EGAD00010000740 674
EGAD00010000742 5383
EGAD00010000744 2326
EGAD00010000922 Illumina HumanCoreExome-24v1-0 494
EGAD00010000923 Illumina HumanCoreExome-12v1-0 463
EGAD00010000924 Illumina HumanCoreExome-12v1-1 991
EGAD00010000925 Illumina HumanCoreExome-12v1-0 855
EGAD00010000926 Illumina HumanCoreExome-12v1-1 3075
EGAD00010000927 Illumina HumanCoreExome-24v1-0 248
Publications Citations
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.
Lancet 380: 2012 815-823
A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.
Ann Rheum Dis 73: 2014 2130-2136
Genome-wide association scan of neuropathic pain symptoms post total joint replacement highlights a variant in the protein-kinase C gene.
Eur J Hum Genet 25: 2017 446-451
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
Am J Hum Genet 100: 2017 865-884
A novel variant in <i>GLIS3</i> is associated with osteoarthritis.
Ann Rheum Dis 77: 2018 620-623
Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.
Nat Genet 51: 2019 230-236
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.
Cell 184: 2021 4784-4818.e17