Primary osteoarthritis chondrocyte map of chromatin conformation (Hi-C)

Osteoarthritis is a complex disease with a huge public health burden. Genome-wide association studies (GWAS) have identified hundreds of osteoarthritis-associated sequence variants, but the effector genes underpinning these signals remain largely elusive. Understanding chromosome organization in 3D space is essential for identifying long-range contacts between distant genomic features (e.g., between genes and regulatory elements), in a tissue-specific manner. Here, we generate the first whole genome chromosome conformation analysis (Hi-C) map of primary osteoarthritis chondrocytes. Overall design: Human knee cartilage samples were collected during routine joint replacement surgery. Healthy cartilage was defined according to the International Cartilage Repair Society macroscopic grading system (Grade 0-1).