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Comprehensive DNA Methylation Analysis Using a Methyl-CpG-binding Domain Capture-based Method in Chronic Lymphocytic Leukemia Patients
Published on: June 16, 2017
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Cell-specific epigenome-wide DNA methylation in peripheral CD4(+) lymphocytes from patients with primary biliary
Pinelopi Arvaniti1,2,3, Kalliopi Zachou1,2, Aggeliki Lyberopoulou1
1Department of Medicine and Research Laboratory of Internal Medicine, Expertise Center of Greece in Autoimmune Liver Diseases, General University Hospital of Larissa, Mezourlo, 41110, Larissa, Greece.
Journal of Translational Autoimmunity
|December 31, 2025
Summary
Epigenetic changes, specifically DNA hypermethylation, are prominent in CD4(+) lymphocytes of primary biliary cholangitis (PBC) patients, impacting immune responses and potentially sex-driven disease development.
Area of Science:
- Immunology
- Epigenetics
- Hepatology
Background:
- Primary biliary cholangitis (PBC) is a chronic autoimmune liver disease with complex etiology.
- Genetic, environmental, and epigenetic factors contribute to PBC pathogenesis.
- Limited data exist on gene-specific epigenetic modifications in PBC.
Purpose of the Study:
- To investigate the methylation profile of peripheral CD4(+) lymphocytes in PBC patients.
- To compare PBC patients with healthy controls (HC) and autoimmune hepatitis (AIH) patients.
- To identify epigenetic modifications contributing to PBC pathogenesis.
Main Methods:
- Isolation of CD4(+) lymphocytes from treatment-naïve PBC patients, HC, and AIH patients.
- Whole genome methylation analysis using Illumina 850k array.
- Quantification of candidate gene expression via RT-PCR.
Main Results:
- Significant differentially methylated positions (DMPs) found between PBC and HC, predominantly hypermethylated.
- Hypermethylation affected immune cell differentiation and signaling pathways.
- Extensive DMPs identified between PBC and AIH, with enrichment in cytokine and interleukin signaling.
- IFN-regulated genes were hypermethylated in PBC, with increased IFNGR2 expression.
Conclusions:
- Hypermethylation is a key epigenetic feature in CD4(+) lymphocytes of PBC patients.
- Epigenetic modifications primarily impact immunological response pathways.
- The substantial number of X chromosome DMPs suggests a role for sex in PBC pathogenesis.
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