Identification of Mechanisms by Which Genetic Susceptibility Loci Influence Systemic Sclerosis Risk Using Functional Genomics in Primary T Cells and Monocytes.

ABSTRACT:

Objective

Systemic sclerosis (SSc) is a complex autoimmune disease with a strong genetic component. However, most of the genes associated with the disease are still unknown because associated variants affect mostly noncoding intergenic elements of the genome. We used functional genomics to translate the genetic findings into a better understanding of the disease.

Methods

Promoter capture Hi-C and RNA-sequencing experiments were performed in CD4+ T cells and CD14+ monocytes from 10 SSc patients and 5 healthy controls to link SSc-associated variants with their target genes, followed by differential expression and differential interaction analyses between cell types.

Results

We linked SSc-associated loci to 39 new potential target genes and confirmed 7 previously known S

SUBMITTER: Gonzalez-Serna D 

PROVIDER: S-EPMC10953390 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature