The PTPN2 gene has recently been associated with increased primary biliary cholangitis (PBC) susceptibility in a recently published study in Hepatology. The gene also appears to be involved in the disease mechanism and could be a potential target for new drugs.
PBC is characterized by chronic inflammation of the liver bile ducts , which can also lead to liver scarring (fibrosis) and liver cirrhosis due to the accumulation of bile in the damaged bile ducts (cholestasis). All of this is caused by an abnormal immune system response to healthy bile ducts. Several studies show that genetics play an important role in the development of the disease.
“The higher concordance rate in monozygotic-twins compared to dizygotic-twins and the elevated estimated sibling relative risk in PBC patients compared to unaffected individuals indicate the involvement of strong genetic factors in the development of PBC,” the authors wrote.
Research has identified several genes that appear to increase susceptibility to the disease. However, there is a need to identify genes associated with increased susceptibility in specific populations. The authors aimed to identify susceptibility genes specific to the Japanese population.
The authors found that the PTPN2 gene was associated with increased PCB susceptibility in the Japanese population. Furthermore, it was also detected in the immune cells that cause bile duct and liver damage in patients with PBC. These findings suggest that the gene is not only involved in increased susceptibility but also plays an important role in the disease mechanism.
Researchers believe that this gene could be a potential therapeutic target for future drugs aimed at treating PBC.
“PTPN2, a novel susceptibility gene for PBC in the Japanese population, may be involved in the pathogenesis of PBC via an insufficient negative feedback loop caused by the PTPN2 risk allele of rs2292758 in IFN signaling,” the authors wrote. “This suggests that PTPN2 could be a potential molecular target for PBC treatment.”
