Mediation of the Same Epigenetic and Transcriptional Effect by Independent Osteoarthritis Risk–Conferring Alleles on a Shared Target Gene, COLGALT2
Authors' conclusion
COLGALT2 is the target of independent OA risk loci sharing a common mechanism of action.
Study context
- Population
- Human fetal cartilage, cartilage from osteoarthritis (OA) and femoral neck fracture arthroplasty patients, and a chondrocyte cell modelOA 87, arthroplasty 132, fetal 77 samples
- Outcome
- Target gene(s) and mechanism of action of the OA locus marked by rs1046934 (COLGALT2/TSEN15 linkage disequilibrium block)
Methodological detailsgenotyping and methylation array, pyrosequencing replication, allelic expression imbalance, reporter gene assays, epigenetic editing, in silico analyses
- Genotyping and methylation array
- Pyrosequencing replication
- Allelic expression imbalance
- Reporter gene assays
- Epigenetic editing
- In silico analyses
Main finding
As reported in the abstract
Differentially methylated CpGs within regulatory regions in OA cartilage array data
3
CpGs replicated in arthroplasty and fetal cartilage
2
Original publication
Mediation of the Same Epigenetic and Transcriptional Effect by Independent Osteoarthritis Risk–Conferring Alleles on a Shared Target Gene, COLGALT2. Arthritis Rheumatol. Published 11 April 2023. doi:10.
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