Genetic and Epigenetic Fine-Tuning of TGFB1 Expression Within the Human Osteoarthritic Joint.

Sarah J Rice Jack B RobertsMaria TselepiAbby BrumwellJulia FalkCharlotte StevenJohn Loughlin

Published in: Arthritis & rheumatology (Hoboken, N.J.) (2021)

The OA risk SNP rs75621460 impacts TGFB1 expression by modulating the function of a gene enhancer. We propose a mechanism by which the SNP impacts enhancer function, providing novel biologic insight into one mechanism of OA genetic risk, which may facilitate the development of future pharmacologic therapies.

Keyphrases

genome wide
dna methylation
binding protein
poor prognosis
copy number
transcription factor
endothelial cells
rheumatoid arthritis
gene expression
knee osteoarthritis
air pollution
signaling pathway
long non coding rna
high density
current status
genetic diversity
pluripotent stem cells