Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues
Authors' conclusion
This is the first direct demonstration for osteoarthritis genetic risk of a functional link between DNA methylation and gene expression operating in opposite directions between articular joint tissues.
Study context
- Population
- Synovium of OA patients; synovial cell line
- Outcome
- Association of OA risk variants with COLGALT2 enhancer DNA methylation and expression in synovium
Methodological detailspyrosequencing, reporter gene assay, epigenetic editing, in silico analysis
- Pyrosequencing
- Reporter gene assay
- Epigenetic editing
- In silico analysis
Main finding
As reported in the abstract
- rs1046934 genotype did not associate with DNA methylation or COLGALT2 expression in the synovium
- rs11583641 genotype associated with DNA methylation and COLGALT2 expression in the synovium, with effects opposite to those previously observed in cartilage
- Epigenetic editing in synovial cells: enhancer methylation causally linked to COLGALT2 expression
Original publication
Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues. Arthritis Res Ther. Published 19 May 2023. doi:10.
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