The research is published
in Nature Genetics
‘Four locations in the genome were found to increase the risk of primary sclerosing cholangitis.’
Research Study on the
Genes Associated with Primary Sclerosing Cholangitis
genetic study was conducted by researchers at the Mayo Clinic in collaboration
with other researchers to find genes associated with increased risk for primary
. 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
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
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
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
- 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.
- Primary Sclerosing Cholangitis - (https://www.niddk.nih.gov/health-information/liver-disease/primary-sclerosing-cholangitis)