Identification of TMEM129, encoding a ubiquitin-protein ligase, as an effector gene of osteoarthritis genetic risk.
Abby BrumwellGuillaume AubourgJuhel HussainEleanor ParkerDavid J DeehanSarah J RiceJohn LoughlinPublished in: Arthritis research & therapy (2022)
TMEM129 is a target of osteoarthritis genetic risk at this locus. Genotype at rs11732213 impacts DNA methylation at the enhancer, which, in turn, modulates TMEM129 expression. TMEM129 encodes an enzyme involved in protein degradation within the endoplasmic reticulum, a process previously implicated in osteoarthritis. TMEM129 is a compelling osteoarthritis susceptibility target.
Keyphrases
- genome wide
- rheumatoid arthritis
- dna methylation
- endoplasmic reticulum
- knee osteoarthritis
- binding protein
- copy number
- poor prognosis
- gene expression
- protein protein
- small molecule
- transcription factor
- amino acid
- dendritic cells
- regulatory t cells
- immune response
- single molecule
- living cells
- type iii
- genome wide analysis