<p>Osteoarthritis (OA) is a common, degenerative joint disease characterized by the gradual breakdown of the cartilage in the joints. Despite osteoarthritis affecting over 500 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 resting or a fibronectin fragment (FN-f) to model the OA chondrocyte phenotype. We mapped expression quantitative trait loci and splicing quantitative trait loci, and performed colocalization with OA GWAS data to identify putative OA risk genes. Integration of ATAC-seq and Hi-C data provided insights into the regulatory mechanisms. This study revealed both expression-based and splicing-based OA risk genes, several of which had not been previously identified in chondrocyte studies. </p>

Genetic and Genomic Analysis of Primary Human Chondrocytes

Genes Involved in the Osteoarthritis Process Identified through Genome Wide Expression Analysis in Articular Cartilage; the RAAK Study

Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

A molecular quantitative trait locus map for osteoarthritis

Transcriptional response of human articular chondrocytes treated with fibronectin fragments: an in vitro model of the osteoarthritis phenotype

3D Chromatin Structure in Chondrocytes Identifies Putative Osteoarthritis Risk Genes