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Genetic and Genomic Analysis of Primary Human Chondrocytes

Osteoarthritis (OA) is a common, degenerative joint disease characterized by the gradual breakdown of the cartilage in the joints. Despite osteoarthritis affecting over 250 million individuals, the lack of a comprehensive mechanistic understanding of the disease has greatly hindered the development of adequate treatment options. To address this, we generated RNA-seq, Hi-C, and ATAC-seq data in primary human chondrocytes treated with either PBS as control or a fibronectin fragment (FN7-10) to model the OA chondrocyte phenotype. We mapped expression quantitative trait loci and performed colocalization with OA GWAS data to identify putative OA risk genes. Intersection with ATAC-seq and Hi-C data supported these genes and provided insight into mechanism. This study revealed 16 putative osteoarthritis risk genes, 13 of which have not been identified in prior chondrocyte eQTL studies.