In a study described by an article in Science Daily, it has been revealed that researchers have associated nine genetic regions with a rare autoimmune disease of the liver known as primary sclerosing cholangitis (PSC). According to The American Liver Foundation, (PSC) is a chronic, or long-term, disease that slowly damages the bile ducts inside and outside the liver.
Approximately 70 per cent of people who suffer from PSC also suffer from IBD. The team showed that only half of the newly associated genetic regions were shared with inflammatory bowel disease (IBD). For the first time, this definitively proves that PSC, although genetically related to IBD, is a distinct disease by itself. There are no effective treatments available. Although PSC affects only one in 10,000 people, it is a leading cause of liver transplant surgery.
This study has discovered the underlying genetic aspects of PSC, more than ever before.
According to the article,
“Using the Immunochip genotyping chip, we can pull apart the genetic relationships between these autoimmune diseases and begin to see not only their genetic similarities, but also the differences,” says Jimmy Liu, PhD student and first author from the Wellcome Trust Sanger Institute. “As PSC is a rare disorder, sample collection is more difficult than for other, more common, autoimmune diseases. We hope that with more samples from patients, we’ll be able to link more genetic regions to the disease, and it will become easier to identify underlying pathways that could act as therapeutic targets.”
