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. 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).