A June 2024 study by the Francis Crick Institute, working with UCL and Imperial College London, said,
“IBD usually develops in young people and can cause severe symptoms that disrupt education, relationships, family life and employment. Better treatments are urgently needed.”
“Using genetics as a starting point, we’ve uncovered a pathway that appears to play a major role in IBD and other inflammatory diseases. Excitingly, we’ve shown that this can be targeted therapeutically, and we’re now working on how to ensure this approach is safe and effective for treating people in the future."
“IBD and other autoimmune conditions are really complex, with multiple genetic and environmental risk factors, so to find one of the central pathways, and show how this can be switched off with an existing drug, is a massive step forwards.”
References
Stankey, CT., Bourges, C., and Haag, LM. et al. (2024). A disease-associated gene desert directs macrophage inflammation through ETS2. Nature. 10.1038/s41586-024-07501-1.
Conrad, N. et al. (2023). Incidence, prevalence, and co-occurrence of autoimmune disorders over time and by age, sex, and socioeconomic status: a population-based cohort study of 22 million individuals in the UK. The Lancet. 10.1016/S0140-6736(23)00457-9.
Rates of Crohn’s and Colitis have been vastly underestimated for decades, says new study. (2022). University of Nottingham.
The gene desert is located on chromosome 21. The variant of the enhancer linked to IBD, called rs2836882, is a ‘single nucleotide polymorphism’ – where just one base (A,C,T or G) is changed in the DNA. Rs2836882 could bind four times better than other variants to a ‘pioneer factor’ called PU.1, which initiates activation of the gene, allowing it to increase the activity of ETS2 further down the chromosome