Alterations of the Primary Cilia Gene SPAG17 and SOX9 Locus Noncoding RNAs Identified by RNA-Sequencing Analysis in Patients With Systemic Sclerosis.

ABSTRACT:

Objective

Systemic sclerosis (SSc) is characterized by immune activation, vasculopathy, and unresolving fibrosis in the skin, lungs, and other organs. We performed RNA-sequencing analysis on skin biopsy samples and peripheral blood mononuclear cells (PBMCs) from SSc patients and unaffected controls to better understand the pathogenesis of SSc.

Methods

We analyzed these data 1) to test for case/control differences and 2) to identify genes whose expression levels correlate with SSc severity as measured by local skin score, modified Rodnan skin thickness score (MRSS), forced vital capacity (FVC), or diffusing capacity for carbon monoxide (DLco).

Results

We found that PBMCs from SSc patients showed a strong type I interferon signature. This signal was found to be replicat

SUBMITTER: Roberson EDO 

PROVIDER: S-EPMC10445493 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature