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Major cause of inflammatory bowel disease found (www.bbc.com)
submitted 3 weeks ago by fne8w2ah@lemmy.world to c/science@lemmy.world
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[-] Aurenkin@sh.itjust.works 121 points 3 weeks ago* (last edited 3 weeks ago)

They found a weak spot in our DNA that is present in 95% of people with the disease. It makes it much easier for some immune cells to go haywire and drive excessive inflammation in the bowels. The team have found drugs that already exist seem to reverse the disease in laboratory experiments and are now aiming for human trials.

[-] AmidFuror@fedia.io 61 points 3 weeks ago

The "weak spot" is an enhancer region about 290 Kbp from the gene ETS2 mentioned elsewhere in the comments. The haplotype associated with IBS leads to overepression of the gene. They did some nice cell and molecular work to confirm the enhancer's effect on the gene and the genes effect on inflammation response.

this post was submitted on 05 Jun 2024
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