05Sep 2021
Genetic and Epigenetic Fine‐Tuning of TGFB1 Expression Within the Human Osteoarthritic Joint

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

This study showed that SNP rs75621460 was located within a TGFB1 enhancer region, and the osteoarthritis (OA) risk allele A altered transcription factor binding, with decreased enhancer activity. Strong correlations between patient DNA methylation levels and TGFB1 expression were observed, with directly opposing effects in the cartilage and the synovium at this locus. The OA risk SNP rs75621460 impacts TGFB1 expression by modulating the function of a gene enhancer.

  • #orthopaedics

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