The modify, which only affects one in every 10,000 in the UK is a chronic, progressive plague of the bile ducts which channels bile from the liver into the intestines.
The complaint causes inflammation of the bile ducts – which is called cholangitis – and liver decay, and is a leading cause of liver transplant surgery.
Approximately 75 per cent of PSC tients also suffer from seditious bowel disease (IBD), but experts the genetic relationship between the two diseases has extended been misunderstood.
To understand more about what causes the infirmity, a huge international collaboration has been set up.
Experts have set out to study the genomes of 5,000 PSC tients and com red them with genomes from 20,000 shape people in a bid to get to the root of the issue.
Researchers identified four new regions of the genome that were tie-in with PSC risk, one of which demonstrated that the disease is associated with improved levels of a protein called UBASH3A.
Dr Carl Anderson, a lead father from the Wellcome Trust Sanger Institute, said: “From our genome wide of the mark association studies we have been able to identify several biological thways that apt to play a role in PSC.
“We discovered that lower levels of the UBASH3A protein correlate with cut risk of PSC.
“A drug that could reduce the amount of UBASH3A may as follows be helpful in treating people with PSC, so this gives pharmaceutical coteries insight into biological systems to target.”
The researchers also analogize resembled this genetic study with previous large scale swats of IBD.
While they found many regions of the genome are associated with both PSC and IBD gamble, they found others that were only associated with jeo rdize of PSC.
This indicates that there are unique aspects to the biology of PSC and that the virus is not simply caused by IBD.
Dr Konstantinos Lazaridis, he tologist and co-lead on the study from Mayo Clinic College of Nostrum and Science in USA, said: “Looking at PSC and IBD tients, we saw both clinical and genetic reformations between the two groups.
“If we want to understand bowel inflammation in PSC, we need to look at that specifically and liken it with a se rate group of IBD tients without PSC, not merge the two groups and look at the normal.
“Our study suggests PSC is a se rate disease to IBD, despite the many genetic and clinical commonalities.”
Dr Tom Karlsen, from Oslo University Medical centre, Norway, said: “This research was only made possible due to the 5,000 tients from who rtici ted in the learning, and to the amazing effort from the International PSC study group in recruiting them.
“This is the largest on any occasion study of the genetics of PSC, and we hope this and ongoing research will arrogate improve the future for people suffering with this disease.