Whole-genome bisulfite sequencing in systemic sclerosis provides novel targets to understand disease pathogenesis.

ABSTRACT:

Background

Systemic sclerosis (SSc) is a rare autoimmune connective tissue disease whose pathogenesis remains incompletely understood. Increasing evidence suggests that both genetic susceptibilities and changes in DNA methylation influence pivotal biological pathways and thereby contribute to the disease. The role of DNA methylation in SSc has not been fully elucidated, because existing investigations of DNA methylation predominantly focused on nucleotide CpGs within restricted genic regions, and were performed on samples containing mixed cell types.

Methods

We performed whole-genome bisulfite sequencing on purified CD4+ T lymphocytes from nine SSc patients and nine controls in a pilot study, and then profiled genome-wide cytosine methylation as well as genetic variations. W

SUBMITTER: Lu T 

PROVIDER: S-EPMC6813992 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature