Primary biliary cholangitis (PBC) is a chronic immuneassociated cholestatic liver disease with unclear complex/multifactorial etiopathogenesis affecting mostly
middle-aged women. Patients with PBC exhibit
reduced expression of the AE2/SLC4A2 gene. Herein,
we found that AE2 promoter regions are hypermethylated in the liver and peripheral blood mononuclear
cells of patients with PBC. This increased methylation
is associated with downregulated AE2-gene expression, which might contribute to the pathogenesis of
PBC. Therefore, novel epigenetic targets may improve
treatment in patients with PBC who respond poorly to
current pharmacological therapies
