Promoter hypermethylation of the AE2/SLC4A2 gene in PBC.

ABSTRACT:

Background & aims

Patients with primary biliary cholangitis (PBC) exhibit reduced AE2/SLC4A2 gene expression in the liver and peripheral blood mononuclear cells (PBMCs). AE2 encodes a Cl^-/HCO₃ ^- exchanger involved in biliary bicarbonate secretion and intracellular pH regulation. Reduced AE2 expression in PBC may be pathogenic, as Ae2-knockout mice reproduce characteristic PBC features. Herein, we aimed to identify CpG-methylation abnormalities in AE2 promoter regions that might contribute to the reduced gene transcription in PBC livers and PBMCs.

Methods

CpG-cytosine methylation rates were interrogated at 1-base pair resolution in upstream and alternate AE2 promoter regions through pyrosequencing of b

SUBMITTER: Arenas F 

PROVIDER: S-EPMC7001545 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature