Primary osteoarthritis chondrocyte map of chromatin conformation reveals novel candidate effector genes
Authors' conclusion
We have constructed the first Hi-C map of primary human chondrocytes and have made it available as a resource for the scientific community. By integrating 3D genomics with large-scale genetic association and epigenetic data, we identify novel candidate effector genes for osteoarthritis
Study context
- Population
- Primary chondrocytes from patients with knee OA
- Participants
- 8 participants
- Outcome
- Variants in chromatin loop anchors linked to OA GWAS signals
Methodological detailsHi-C chromosome conformation analysis, integration with OA genome-wide association studies (GWAS) and epigenomic data
- Hi-C chromosome conformation analysis
- Integration with OA GWAS and epigenomic data
Main finding
As reported in the abstract
- Genetic variants within chromatin loop anchors
- 345
- OA GWAS signals associated with these variants
- 77
- Variants residing directly in enhancer regions of newly described active enhancer-promoter loops
- 10
- Newly described active enhancer-promoter loops
- 10
- New candidate effector genes: SPRY4 and PAPPA; further support for SLC44A2
- 2
Original publication
Primary osteoarthritis chondrocyte map of chromatin conformation reveals novel candidate effector genes. Ann Rheum Dis. Published 15 July 2024. doi:10.
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