Variants in the <i>DDX6-CXCR5</i> autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland.

ABSTRACT: Fine mapping and bioinformatic analysis of the DDX6-CXCR5 genetic risk association in Sjögren's Disease (SjD) and Systemic Lupus Erythematosus (SLE) identified five common SNPs with functional evidence in immune cell types: rs4938573, rs57494551, rs4938572, rs4936443, rs7117261. Functional interrogation of nuclear protein binding affinity, enhancer/promoter regulatory activity, and chromatin-chromatin interactions in immune, salivary gland epithelial, and kidney epithelial cells revealed cell type-specific allelic effects for all five SNPs that expanded regulation beyond effects on DDX6 and CXCR5 expression. Mapping the local chromatin regulatory network revealed several additional genes of interest, including lnc-PHLDB1-1. Collectively, functional characterizat

SUBMITTER: Wiley MM 

PROVIDER: S-EPMC11275775 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature