Article
Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk.
Human molecular genetics - 1 Oct 2018
Rice Sarah J, Aubourg Guillaume, Sorial Antony K, Almarza David, Tselepi Maria, Deehan David J, Reynard Louise N, Loughlin John
Abstract excerpt
Osteoarthritis (OA) is a common, multifactorial and polygenic skeletal disease that, in its severest form, requires joint replacement surgery to restore mobility and to relieve chronic pain. Using tissues from the articulating joints of 260 patients with OA and a range of in vitro experiments, including CRISPR-Cas9, we have characterized an intergenic regulatory element. Here, genotype at an OA risk locus...
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