arcOGEN (Arthritis Research UK Osteoarthritis Genetics)

arcOGEN is a study that aims to find genetic determinants of osteoarthritis and elucidate the genetic architecture of the disease. Osteoarthritis is the most common form of arthritis - it affects about 8 million people in the UK and presents major health and economic burdens. There is a considerable genetic component to osteoarthritis: those people with a parent or sibling with the condition are two to three times more likely to develop osteoarthritis than those who don't.

[Mark Wilkinson, The University of Sheffield]


arcOGEN investigators are conducting a large-scale, genome-wide association scan to try to tease apart the complex interplay of environmental and genetic factors that contribute to the disease by finding genetic markers associated with the condition. Identifying the genes that play a role in the development of osteoarthritis will help researchers to understand why the disease occurs and assist in the development of new treatments by identifying new molecular targets.

The arcOGEN study is a collaboration comprising 16 investigators from 11 centres, including Dr Eleftheria Zeggini and Dr Panos Deloukas from the Wellcome Trust Sanger Institute. The arcOGEN study is funded by Arthritis Research UK.

The study involves a two-stage genome-wide association scan to understand the genetic contribution to this complex and common disease. The study uses the genetic data of more than 7,500 people with knee and/or hip osteoarthritis and 11,000 controls from the UK population. The team have genotyped the data, looking for more than 600,000 single letter changes (SNPs) in the genome. Analyses are being carried out to try to identify those variants that are associated with increased disease risk.

Research investigators will soon be able to access genotype and phenotype data, as well as the osteoarthritis patient DNA biobank - created by arcOGEN - freely, via the European Genome-phenome Archive (EGA).

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