Genetic link to rare liver disorder discovered
London: Scientists have found specific genes associated with a rare liver disease that could provide a valuable tool for therapy, says a study.
The large-scale genetic study defines the relationship between primary sclerosing cholangitis and other autoimmune diseases.
Researchers have newly associated nine genetic regions with a rare autoimmune disease of the liver known as primary sclerosing cholangitis (PSC). This brings the total number of genetic regions associated with the disease to 16.
Approximately 70 percent 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.
PSC is a chronic, progressive disease of the bile ducts that channels bile from the liver into the intestines. It can cause inflammation of the bile ducts (cholangitis) and liver scarring that leads to liver cirrhosis and liver failure.
There are no effective treatments available.
Although PSC affects only one in 10,000 people, it is a leading cause of liver transplant surgery, reports Science Daily.
"Before our study, it was never quite clear whether PSC was a complication of IBD or a distinct disease in its own right," says Carl Anderson, lead author from the Wellcome Trust Sanger Institute, a genome research institute.
"We have proven it to be a unique disease, and hope that our results will inform the development of more effective treatments, designed to target the biological pathways involved in causing the disease".