Health In Focus
  • Primary sclerosing cholangitis is a liver condition whose exact cause is not known
  • Four genes associated with an increased risk of the condition, making the total number of genes associated with primary sclerosing cholangitis to 20
  • The research could potentially lead to the development of drugs for the treatment of this untreatable liver disease

A large genome-wide study has picked out four genes that may be associated with increased risk for the development of a liver disease called primary sclerosing cholangitis.

The research is published in Nature Genetics.
Four New Genes May Increase Risk of Primary Sclerosing Cholangitis

Research Study on the Genes Associated with Primary Sclerosing Cholangitis

A genetic study was conducted by researchers at the Mayo Clinic in collaboration with other researchers to find genes associated with increased risk for primary sclerosing cholangitis. The research team analyzed the genomes of 4,796 patients with primary sclerosing cholangitis and compared the information with the genetic data obtained from nearly 20000 individuals.

The data that they obtained revealed four locations in the genome that appear to increase the risk of primary sclerosing cholangitis, which was not detected earlier. This additional information has increased the number of loci ( a position of the gene on the chromosome) predisposing to the development of the condition to 20.

The research team could also use the information obtained from the study to understand the genetic associations between primary sclerosing cholangitis and inflammatory bowel disease.

The researchers feel that the genomic study may also help to arrive at the development of specific drugs for the treatment of primary sclerosing cholangitis. For example, one of the four loci associated with primary sclerosing cholangitis increases the level of the protein called UBASH3A. Therefore, drugs that could possibly reduce the level of the molecule could be beneficial in the treatment of the liver disease.

Primary Sclerosing Cholangitis (PSC)

Primary sclerosing cholangitis is a condition where the bile ducts, the ducts that carry bile from the liver to the digestive tract get scarred. The condition affects the ducts inside as well as outside the liver. As a consequence, the bile cannot flow out of the liver and damages the liver cells, ultimately resulting in liver cirrhosis and liver failure, and sometimes even bile duct cancer.

There is no definite medication for the condition except symptomatic treatment. Liver transplantation may be required in the advanced stage of liver failure.

The exact cause of primary sclerosing cholangitis is not known, though genetic factors, immune system-related problems, microorganisms like bacteria and viruses have been implicated.

Facts on Primary Sclerosing Cholangitis (PSC)

  • Primary sclerosing cholangitis is more common among men when compared to women.
  • It usually occurs during the 4th or 5th decade of life (approximately 42 years).
  • Around 10-15% of PSC patients have a risk of developing bile duct cancer.
  • People with primary sclerosing cholangitis often suffer from a type of inflammatory bowel disease called ulcerative colitis. However, the reverse is not true - people with inflammatory bowel disease rarely suffer from primary sclerosing cholangitis.
  • Complications of bile duct cancer may lead to infections, vitamin deficiencies, cirrhosis and liver failure.
  • PSC is the main cause of 5% of liver transplants that are done in the United States.
Reference :

  1. Primary Sclerosing Cholangitis - (

Source: Medindia

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